# Copyright (c) 1966-2019 Johns Hopkins University. Use of this file adheres to the terms specified at https://omim.org/help/agreement. # Generated: 2019-08-08 # Prefix Mim Number Preferred Title; symbol Alternative Title(s); symbol(s) Included Title(s); symbols NULL 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT Percent 100070 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 1; AAA1 ANEURYSM, ABDOMINAL AORTIC; AAA;; ABDOMINAL AORTIC ANEURYSM Number Sign 100100 PRUNE BELLY SYNDROME; PBS ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM;; EAGLE-BARRETT SYNDROME; EGBRS NULL 100200 ABDUCENS PALSY Number Sign 100300 ADAMS-OLIVER SYNDROME 1; AOS1 AOS;; ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL;; CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES;; APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED Caret 100500 MOVED TO 200150 Percent 100600 ACANTHOSIS NIGRICANS Asterisk 100640 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A1; ALDH1A1 ALDEHYDE DEHYDROGENASE 1; ALDH1;; ACETALDEHYDE DEHYDROGENASE 1;; ALDH, LIVER CYTOSOLIC;; RETINAL DEHYDROGENASE 1; RALDH1 Plus 100650 ALDEHYDE DEHYDROGENASE 2 FAMILY; ALDH2 ALDEHYDE DEHYDROGENASE 2;; ALDH, LIVER MITOCHONDRIAL;; ACETALDEHYDE DEHYDROGENASE 2 SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO, INCLUDED;; ALDH2/HMGIC FUSION GENE, INCLUDED;; ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO, INCLUDED Asterisk 100660 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 1; ALDH3A1 ALDEHYDE DEHYDROGENASE 3; ALDH3;; ACETALDEHYDE DEHYDROGENASE 3;; ALDH, STOMACH TYPE Asterisk 100670 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER B1; ALDH1B1 ALDEHYDE DEHYDROGENASE 5; ALDH5;; ACETALDEHYDE DEHYDROGENASE 5 NULL 100675 ACETAMINOPHEN METABOLISM Asterisk 100678 ACETYL-CoA ACETYLTRANSFERASE 2; ACAT2 ACETOCOENZYME A ACETYLTRANSFERASE 2;; ACETOACETYL-CoA THIOLASE, CYTOSOLIC Caret 100680 MOVED TO 100740 Asterisk 100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1 CHRNA;; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT; ACHRA NULL 100700 ACHARD SYNDROME Asterisk 100710 CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1; CHRNB1 CHRNB;; ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT; ACHRB Asterisk 100720 CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; CHRND ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT; ACHRD Asterisk 100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT; ACHRE Asterisk 100730 CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE; CHRNG ACETYLCHOLINE RECEPTOR, MUSCLE, GAMMA SUBUNIT; ACHRG Caret 100735 MOVED TO 142445 Asterisk 100740 ACETYLCHOLINESTERASE; ACHE ACETYLCHOLINE ACETYLHYDROLASE;; YT Asterisk 100790 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 1; ASCL1 MAMMALIAN ACHAETE-SCUTE HOMOLOG 1; MASH1;; HUMAN ACHAETE-SCUTE HOMOLOG 1; HASH1 Number Sign 100800 ACHONDROPLASIA; ACH Percent 100820 ACHOO SYNDROME AUTOSOMAL DOMINANT COMPELLING HELIOOPHTHALMIC OUTBURST SYNDROME;; PHOTIC SNEEZE REFLEX;; SNEEZING FROM LIGHT EXPOSURE;; PEROUTKA SNEEZE Asterisk 100850 ACONITASE, MITOCHONDRIAL; ACO2 ACONM Asterisk 100880 ACONITASE 1, SOLUBLE; ACO1 ACONITATE HYDRATASE, SOLUBLE;; ACONITASE, SOLUBLE; ACONS;; IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 1; IREB1;; IRE-BINDING PROTEIN 1; IREBP1; IREBP;; IRON REGULATORY PROTEIN 1; IRP1 Caret 100900 MOVED TO 100880 Number Sign 101000 NEUROFIBROMATOSIS, TYPE II; NF2 NEUROFIBROMATOSIS, CENTRAL TYPE;; ACOUSTIC SCHWANNOMAS, BILATERAL;; BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF;; ACOUSTIC NEURINOMA, BILATERAL; ACN NULL 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III ACPS III;; ACPS WITH LEG HYPOPLASIA;; SAKATI-NYHAN SYNDROME Number Sign 101200 APERT SYNDROME ACROCEPHALOSYNDACTYLY, TYPE I; ACS1;; ACS I APERT-CROUZON DISEASE, INCLUDED;; ACROCEPHALOSYNDACTYLY, TYPE II, INCLUDED;; ACS II, INCLUDED;; VOGT CEPHALODACTYLY, INCLUDED Number Sign 101400 SAETHRE-CHOTZEN SYNDROME; SCS ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;; ACS III;; CHOTZEN SYNDROME;; ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;; BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED; BPES3, FORMERLY, INCLUDED Number Sign 101600 PFEIFFER SYNDROME ACROCEPHALOSYNDACTYLY, TYPE V; ACS5;; ACS V;; NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED Number Sign 101800 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 ADOHR NULL 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE AFD, CATANIA TYPE NULL 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT Percent 101850 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE III; PPKP3 ACROKERATOELASTOIDOSIS; AKE;; COLLAGENOUS PLAQUES OF HANDS AND FEET Number Sign 101900 ACROKERATOSIS VERRUCIFORMIS; AKV HOPF DISEASE NULL 102000 ACROLEUKOPATHY, SYMMETRIC Percent 102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA ROSENTHAL-KLOEPFER SYNDROME Percent 102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME AFA SYNDROME;; THICK LIPS AND ORAL MUCOSA Number Sign 102200 PITUITARY ADENOMA 1, MULTIPLE TYPES; PITA1 SOMATOTROPINOMA, FAMILIAL ISOLATED; FIS;; ISOLATED FAMILIAL SOMATOTROPINOMA; IFS;; SOMATOTROPHINOMA, FAMILIAL;; ACROMEGALY DUE TO PITUITARY ADENOMA 1;; PAGH1 PITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED;; PITUITARY ADENOMA, FAMILIAL ISOLATED, INCLUDED; FIPA, INCLUDED Percent 102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1; RLS1 ACROMELALGIA, HEREDITARY;; EKBOM SYNDROME Percent 102350 ACROMIAL DIMPLES SUPRASPINOUS FOSSAE, CONGENITAL Number Sign 102370 ACROMICRIC DYSPLASIA; ACMICD NULL 102400 ACROOSTEOLYSIS Asterisk 102480 ACROSIN; ACR PROACROSIN, INCLUDED;; PREPROACROSIN, INCLUDED Caret 102490 MOVED TO 607323 Number Sign 102500 HAJDU-CHENEY SYNDROME; HJCYS ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE;; CHENEY SYNDROME;; ARTHRODENTOOSTEODYSPLASIA;; SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME; SFPKS Percent 102510 ACROPECTOROVERTEBRAL DYSPLASIA; ACRPV F SYNDROME NULL 102520 ACRORENAL SYNDROME Asterisk 102525 ACROSOMAL VESICLE PROTEIN 1; ACRV1 SP-10 PROTEIN Number Sign 102530 SPERMATOGENIC FAILURE 6; SPGF6 GLOBOZOOSPERMIA;; ROUND-HEADED SPERMATOZOA;; SPERMATOZOA, ROUND-HEADED;; ACROSOME MALFORMATION OF SPERMATOZOA Asterisk 102540 ACTIN, ALPHA, CARDIAC MUSCLE; ACTC1 ACTC;; SMOOTH MUSCLE ACTIN;; ACTIN, ALPHA Asterisk 102545 ACTIN, GAMMA-2, SMOOTH MUSCLE, ENTERIC; ACTG2 ACTSG;; ACTE;; ACTIN, ALPHA-3, FORMERLY; ACTA3, FORMERLY Caret 102550 MOVED TO 102630 Asterisk 102560 ACTIN, GAMMA-1; ACTG1 ACTIN, GAMMA; ACTG;; CYTOSKELETAL GAMMA-ACTIN;; ACTIN, CYTOPLASMIC, 2 Asterisk 102565 FILAMIN C; FLNC FILAMIN, GAMMA;; FILAMIN 2; FLN2;; ACTIN-BINDING PROTEIN 280, AUTOSOMAL FORM; ABP280A;; ABPA;; ACTIN-BINDING PROTEIN-LIKE; ABPL Caret 102570 REMOVED FROM DATABASE Asterisk 102573 ACTININ, ALPHA-2; ACTN2 Asterisk 102574 ACTININ, ALPHA-3; ACTN3 Asterisk 102575 ACTININ, ALPHA-1; ACTN1 Asterisk 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 2; ACVRLK2;; ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2 Asterisk 102577 REPLICATION FACTOR C, SUBUNIT 4; RFC4 ACTIVATOR 1, 37-KD SUBUNIT;; REPLICATION FACTOR C, 37-KD SUBUNIT;; RFC2, YEAST, HOMOLOG OF Asterisk 102578 ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML MYL PML/RARA FUSION GENE, INCLUDED Asterisk 102579 REPLICATION FACTOR C, SUBUNIT 1; RFC1 ACTIVATOR 1, 140-KD SUBUNIT;; REPLICATION FACTOR C, 140-KD SUBUNIT; RFC140;; RFC Asterisk 102581 ACTIVIN A RECEPTOR, TYPE IIA; ACVR2A ACVR2 Asterisk 102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3 ACUTE-PHASE RESPONSE FACTOR; APRF NULL 102590 ACYLASE, COBALT-ACTIVATED Asterisk 102593 ACYLOXYACYL HYDROLASE; AOAH Asterisk 102595 ACYLPHOSPHATASE 2, MUSCLE TYPE; ACYP2 ACYLPHOSPHATASE, MUSCLE; ACYP Asterisk 102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT Asterisk 102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 ASMA Asterisk 102620 ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2 ACTIN, ALPHA, SMOOTH MUSCLE, AORTIC; ACTSA;; ACTIN, VASCULAR SMOOTH MUSCLE Asterisk 102630 ACTIN, BETA; ACTB BETA-ACTIN;; ACTIN, CYTOPLASMIC, 1 Caret 102640 MOVED TO 102630 Asterisk 102642 STEROL O-ACYLTRANSFERASE 1; SOAT1 SOAT;; ACYL-CoA:CHOLESTEROL ACYLTRANSFERASE; ACACT;; ACAT1;; STEROL ACYLTRANSFERASE Asterisk 102645 ACYLPEPTIDE HYDROLASE; APH N-ACYLAMINOACYLPEPTIDE HYDROLASE; APEH NULL 102650 ADACTYLIA, UNILATERAL TERMINAL TRANSVERSE DEFECTS OF HAND, UNILATERAL NULL 102660 ADAMANTINOMA OF LONG BONES Asterisk 102670 MUCOSAL VASCULAR ADDRESSIN CELL ADHESION MOLECULE 1; MADCAM1 ADDRESSIN, MUCOSAL;; MUCOSAL ADDRESSIN CELL ADHESION MOLECULE 1; MACAM1 Asterisk 102680 ADDUCIN 1; ADD1 ADDUCIN, ALPHA Asterisk 102681 ADDUCIN 2; ADD2 ADDUCIN, BETA NULL 102699 ADENO-ASSOCIATED VIRUS INTEGRATION SITE 1; AAVS1 Number Sign 102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY SCID DUE TO ADA DEFICIENCY;; ADA-SCID;; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED;; SCID DUE TO ADA DEFICIENCY, LATE-ONSET, INCLUDED;; ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, INCLUDED;; PARTIAL ADA DEFICIENCY, INCLUDED Caret 102710 MOVED TO 102720 Asterisk 102720 DIPEPTIDYL PEPTIDASE IV; DPP4 DIPEPTIDYL PEPTIDASE, INTESTINAL;; ADENOSINE DEAMINASE COMPLEXING PROTEIN 2; ADCP2;; T-CELL ACTIVATION ANTIGEN CD26; CD26 NULL 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO Asterisk 102750 ADENOSINE KINASE; ADK Asterisk 102770 ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1 AMP DEAMINASE;; MYOADENYLATE DEAMINASE Asterisk 102771 ADENOSINE MONOPHOSPHATE DEAMINASE 2; AMPD2 Asterisk 102772 ADENOSINE MONOPHOSPHATE DEAMINASE 3; AMPD3 Asterisk 102775 ADENOSINE A1 RECEPTOR; ADORA1 RDC7 Asterisk 102776 ADENOSINE A2A RECEPTOR; ADORA2A A2AR;; ADORA2;; RDC8 Asterisk 102777 ADENOSINE A2 RECEPTOR-LIKE; ADORA2L1 ADORA2B-LIKE;; ADORA2L Percent 102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO Number Sign 102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES PYRUVATE KINASE HYPERACTIVITY Asterisk 102910 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, BETA SUBUNIT; ATP5F1B ATP5B;; MITOCHONDRIAL ATP SYNTHASE, BETA SUBUNIT; ATPMB;; ATPSB Caret 102920 REMOVED FROM DATABASE Caret 102930 REMOVED FROM DATABASE Caret 102940 REMOVED FROM DATABASE Caret 102970 REMOVED FROM DATABASE Asterisk 102980 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1; ADCYAP1 PITUITARY ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE; PACAP PACAP38, INCLUDED;; PACAP27, INCLUDED;; PACAP-RELATED PEPTIDE, INCLUDED; PRP, INCLUDED Asterisk 102981 ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE 1, RECEPTOR FOR; ADCYAP1R1 PITUITARY ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE RECEPTOR, TYPE I;; PACAP RECEPTOR, TYPE I;; PAC1 Caret 102990 MOVED TO 145600 Asterisk 103000 ADENYLATE KINASE 1; AK1 ADENYLATE KINASE, SOLUBLE Asterisk 103020 ADENYLATE KINASE 2; AK2 ADENYLATE KINASE, MITOCHONDRIAL MYOKINASE Asterisk 103030 ADENYLATE KINASE 3-LIKE 1; AK3L1 AK4, MOUSE, HOMOLOG OF; AK4;; ADENYLATE KINASE 3, FORMERLY; AK3, FORMERLY Number Sign 103050 ADENYLOSUCCINASE DEFICIENCY; ADSLD ADENYLOSUCCINATE LYASE DEFICIENCY;; ADSL DEFICIENCY Asterisk 103060 ADENYLOSUCCINATE SYNTHETASE; ADSS Ade(-)H, COMPLEMENT OF; ADEH Asterisk 103070 ADENYLATE CYCLASE 8; ADCY8 ADCY8;; ADENYLYL CYCLASE, BRAIN, TYPE I;; ADENYLATE CYCLASE 3, FORMERLY; ADCY3, FORMERLY Asterisk 103071 ADENYLATE CYCLASE 2; ADCY2 ADENYLYL CYCLASE 2;; ADENYLYL CYCLASE, BRAIN, TYPE II Asterisk 103072 ADENYLATE CYCLASE 1; ADCY1 ADENYLYL CYCLASE 1;; ADENYLYL CYCLASE, FETAL BRAIN, TYPE I Number Sign 103100 ADIE PUPIL ADIE SYNDROME;; POORLY REACTING PUPILS HOLMES-ADIE SYNDROME, INCLUDED Asterisk 103180 ADP-RIBOSYLATION FACTOR 1; ARF1 Asterisk 103188 ADP-RIBOSYLATION FACTOR 5; ARF5 Asterisk 103190 ADP-RIBOSYLATION FACTOR 3; ARF3 Asterisk 103195 PERILIPIN 2; PLIN2 ADIPOSE DIFFERENTIATION-RELATED PROTEIN; ADRP;; ADIPOPHILIN Percent 103200 ADIPOSIS DOLOROSA DERCUM DISEASE Asterisk 103220 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 4; SLC25A4 ADENINE NUCLEOTIDE TRANSLOCATOR 1; ANT1;; ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE; ANT;; ADP/ATP TRANSLOCASE 1;; ADP/ATP CARRIER 1; AAC1 NULL 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL ADDISON DISEASE, CONGENITAL Asterisk 103260 FERREDOXIN 1; FDX1 ADRENODOXIN; ADX Asterisk 103270 FERREDOXIN REDUCTASE; FDXR FERREDOXIN:NADP(+) REDUCTASE;; ADRENODOXIN REDUCTASE; ADXR Asterisk 103275 ADRENOMEDULLIN; ADM Asterisk 103280 H19, IMPRINTED MATERNALLY EXPRESSED NONCODING TRANSCRIPT; H19 LONG INTERGENIC NONCODING RNA H19;; lincRNA H19;; ADULT SKELETAL MUSCLE GENE; ASM;; ASM1 Number Sign 103285 ADULT SYNDROME ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME Percent 103300 HYPOGLOSSIA-HYPODACTYLIA PEROMELIA WITH MICROGNATHISM;; OROMANDIBULAR LIMB HYPOPLASIA;; AGLOSSIA-ADACTYLIA HANHART SYNDROME, INCLUDED Asterisk 103320 AGRIN; AGRN Caret 103321 MOVED TO 128239 Asterisk 103390 AHNAK NUCLEOPROTEIN; AHNAK DESMOYOKIN NULL 103400 AINHUM Percent 103420 ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT ALACRIMIA CONGENITA, AUTOSOMAL DOMINANT Number Sign 103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE; WS2-OA Number Sign 103500 TIETZ ALBINISM-DEAFNESS SYNDROME; TADS TIETZ SYNDROME;; ALBINISM-DEAFNESS OF TIETZ;; HYPOPIGMENTATION/DEAFNESS OF TIETZ Number Sign 103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A PHP IA;; ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE Caret 103581 MOVED TO 103580 Asterisk 103600 ALBUMIN; ALB Asterisk 103700 ALCOHOL DEHYDROGENASE 1A, CLASS I, ALPHA POLYPEPTIDE; ADH1A ALCOHOL DEHYDROGENASE 1; ADH1;; ADH, ALPHA SUBUNIT Asterisk 103710 ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5 ALCOHOL DEHYDROGENASE, CHI ISOZYME;; ADH, CLASS III; ADHX;; FORMALDEHYDE DEHYDROGENASE; FDH;; FORMALDEHYDE DEHYDROGENASE, GLUTATHIONE-DEPENDENT;; S-NITROSOGLUTATHIONE REDUCTASE; GSNOR Asterisk 103720 ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE; ADH1B ALCOHOL DEHYDROGENASE 2; ADH2;; ADH, BETA SUBUNIT Asterisk 103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH1C ALCOHOL DEHYDROGENASE 3; ADH3;; ADH, GAMMA SUBUNIT Asterisk 103735 ALCOHOL DEHYDROGENASE 6; ADH6 Asterisk 103740 ALCOHOL DEHYDROGENASE 4; ADH4 ALCOHOL DEHYDROGENASE, PI ISOZYME;; ADH, CLASS II Number Sign 103780 ALCOHOL DEPENDENCE ALCOHOLISM ALCOHOL DEPENDENCE, PROTECTION AGAINST, INCLUDED;; AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST, INCLUDED Caret 103800 MOVED TO 253200 AND 258870 Asterisk 103830 ALDO-KETO REDUCTASE FAMILY 1, MEMBER A1; AKR1A1 ALDEHYDE REDUCTASE; ALR Asterisk 103850 ALDOLASE A, FRUCTOSE-BISPHOSPHATE; ALDOA FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE A;; ALDOLASE A; ALDA;; ALDOLASE 1;; FRUCTOALDOLASE A Asterisk 103870 ALDOLASE C, FRUCTOSE-BISPHOSPHATE; ALDOC ALDOLASE 3;; FRUCTOALDOLASE C; ALDC Asterisk 103880 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B1; AKR1B1 ALDOSE REDUCTASE; AR;; ALDEHYDE REDUCTASE 1; ALDR1 Asterisk 103890 ALDOSE REDUCTASE M; ARM Number Sign 103900 HYPERALDOSTERONISM, FAMILIAL, TYPE I; HALD1 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA;; FH I;; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; GSH;; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE;; ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME NULL 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL Asterisk 103950 ALPHA-2-MACROGLOBULIN; A2M MACROGLOBULIN, ALPHA-2 Percent 104000 ALOPECIA AREATA 1; AA1 ALOPECIA UNIVERSALIS, INCLUDED; AU, INCLUDED Number Sign 104100 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1; PPKCA1 PPKCA, STEVANOVIC TYPE;; KERATODERMA-HYPOTRICHOSIS-LEUKONYCHIA TOTALIS SYNDROME NULL 104110 ALOPECIA, FAMILIAL FOCAL; ALPF Percent 104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY SHOKEIR SYNDROME Asterisk 104145 AFAMIN; AFM ALPHA-ALBUMIN; ALBA; ALB2 Asterisk 104150 ALPHA-FETOPROTEIN; AFP Asterisk 104155 ZINC FINGER HOMEOBOX 3; ZFHX3 AT MOTIF-BINDING FACTOR 1; ATBF1;; AT-BINDING TRANSCRIPTION FACTOR 1;; ALPHA-FETOPROTEIN ENHANCER-BINDING PROTEIN Asterisk 104160 GLUCOSIDASE, ALPHA, NEUTRAL AB; GANAB ALPHA-GLUCOSIDASE, NEUTRAL, AB FORM;; GLUCOSIDASE II, ALPHA SUBUNIT Asterisk 104170 N-ACETYL-ALPHA-D-GALACTOSAMINIDASE; NAGA ALPHA-GALACTOSIDASE B; GALB Asterisk 104175 GLYCOPROTEIN, ALPHA-GALACTOSYLTRANSFERASE 1 PSEUDOGENE; GGTA1P GGTA1;; ALPHA-1,3-GALACTOSYLTRANSFERASE Asterisk 104180 GLUCOSIDASE, ALPHA, NEUTRAL C; GANC ALPHA-GLUCOSIDASE C, NEUTRAL Number Sign 104200 ALPORT SYNDROME 3, AUTOSOMAL DOMINANT; ATS3 Asterisk 104210 ALPHA-2A-ADRENERGIC RECEPTOR; ADRA2A ADRAR;; ALPHA-2-ADRENERGIC RECEPTOR, PLATELET TYPE;; ADRENOCEPTOR, ALPHA-2A; ADRA2 Asterisk 104219 ALPHA-1D-ADRENERGIC RECEPTOR; ADRA1D ALPHA-1A-ADRENERGIC RECEPTOR, FORMERLY; ADRA1A, FORMERLY Asterisk 104220 ALPHA-1B-ADRENERGIC RECEPTOR; ADRA1B ALPHA-1-ADRENERGIC RECEPTOR; ADRA1 Asterisk 104221 ALPHA-1A-ADRENERGIC RECEPTOR; ADRA1A ALPHA-1C-ADRENERGIC RECEPTOR, FORMERLY; ADRA1C, FORMERLY Caret 104222 MOVED TO 104219 Asterisk 104225 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-ASSOCIATED PROTEIN 1; LRPAP1 ALPHA-2-MACROGLOBULIN RECEPTOR-ASSOCIATED PROTEIN; A2RAP; MRAP; RAP Asterisk 104230 FUCOSYLTRANSFERASE 4; FUT4 ALPHA-3-FUCOSYLTRANSFERASE; FCT3A Asterisk 104240 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 4; ST3GAL4 SIALYLTRANSFERASE 4C; SIAT4C;; ALPHA-3-N-ACETYLNEURAMINYLTRANSFERASE;; CMP-N-ACETYLNEURAMINATE-BETA-GALACTOSIDASE ALPHA-2,3-SIALYLTRANSFERASE;; CGS23;; NANTA3;; ST3O/N Plus 104250 ALPHA-2C-ADRENERGIC RECEPTOR; ADRA2C ALPHA-2-ADRENERGIC RECEPTOR, RENAL TYPE CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF, INCLUDED Asterisk 104260 ALPHA-2B-ADRENERGIC RECEPTOR; ADRA2B ALPHA-2-ADRENERGIC RECEPTOR-LIKE 1;; ADRA2L1 Number Sign 104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1 Number Sign 104300 ALZHEIMER DISEASE; AD PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED; AD1, INCLUDED;; ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY, INCLUDED;; ALZHEIMER DISEASE, PROTECTION AGAINST, INCLUDED Number Sign 104310 ALZHEIMER DISEASE 2; AD2 ALZHEIMER DISEASE 2, LATE-ONSET;; ALZHEIMER DISEASE ASSOCIATED WITH APOE4 Asterisk 104311 PRESENILIN 1; PSEN1 PS1;; S182 NULL 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM NULL 104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA Number Sign 104500 AMELOGENESIS IMPERFECTA, TYPE IB; AI1B AMELOGENESIS IMPERFECTA, HYPOPLASTIC LOCAL, AUTOSOMAL DOMINANT;; AIH2;; ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED Number Sign 104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4 AMELOGENESIS IMPERFECTA, HYPOMATURATION-HYPOPLASTIC TYPE, WITH TAURODONTISM; AIHHT Number Sign 104530 AMELOGENESIS IMPERFECTA, TYPE IA; AI1A AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA Percent 104570 AMELOONYCHOHYPOHIDROTIC SYNDROME NULL 104600 AMENORRHEA-GALACTORRHEA SYNDROME Asterisk 104610 AMILORIDE-BINDING PROTEIN 1; ABP1 ABP;; DIAMINE OXIDASE; DAO;; DAO1 Asterisk 104613 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6A; CCT6A CCT6;; T-COMPLEX HOMOLOG TCP20; TCP20;; HISTIDINE TRANSPORT REGULATOR 3; HTR3;; AMINO ACID TRANSPORT DEFECT-COMPLEMENTING Asterisk 104614 SOLUTE CARRIER FAMILY 3 (CYSTINE, DIBASIC, AND NEUTRAL AMINO ACID TRANSPORTER), MEMBER 1; SLC3A1 AMINO ACID TRANSPORTER 1; ATR1;; D2H;; RBAT Asterisk 104615 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 1; SLC7A1 AMINO ACID TRANSPORTER, CATIONIC 1; ATRC1;; CATIONIC AMINO ACID TRANSPORTER 1; CAT1 Asterisk 104620 AMINOACYLASE 1; ACY1 N-ACYL-L-AMINO ACID AMIDOHYDROLASE;; ACYLASE Asterisk 104640 AMPHIREGULIN; AREG SCHWANNOMA-DERIVED GROWTH FACTOR; SDGF Asterisk 104650 AMYLASE, PANCREATIC, A; AMY2A AMY2 Asterisk 104660 AMYLASE, PANCREATIC, B; AMY2B Asterisk 104700 AMYLASE, SALIVARY, A; AMY1A AMYLASE, SALIVARY; AMY1 Asterisk 104701 AMYLASE, SALIVARY, B; AMY1B Asterisk 104702 AMYLASE, SALIVARY, C; AMY1C Caret 104740 MOVED TO 602414 Asterisk 104750 SERUM AMYLOID A1; SAA1 AMYLOID A, SERUM; SAA Asterisk 104751 SERUM AMYLOID A2; SAA2 AMYLOID A, SERUM, 2 Asterisk 104752 SERUM AMYLOID A4; SAA4 AMYLOID A, SERUM, 4;; SERUM AMYLOID A4, CONSTITUTIVE Asterisk 104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP AMYLOID OF AGING AND ALZHEIMER DISEASE; AAA;; CEREBRAL VASCULAR AMYLOID PEPTIDE; CVAP;; PROTEASE NEXIN II; PN2 Asterisk 104770 AMYLOID P COMPONENT, SERUM; APCS SERUM AMYLOID P; SAP;; PENTRAXIN 2, SHORT; PTX2 Asterisk 104775 AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 1; APLP1 AMYLOID PRECURSOR-LIKE PROTEIN 1;; AMYLOID PRECURSOR-LIKE PROTEIN; APLP Asterisk 104776 AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 2; APLP2 AMYLOID PRECURSOR-LIKE PROTEIN 2;; CDEI-BINDING PROTEIN; CDEBP;; SPERM MEMBRANE PROTEIN Number Sign 105120 AMYLOIDOSIS, FINNISH TYPE AMYLOIDOSIS V;; AMYLOIDOSIS, MERETOJA TYPE;; AMYLOID CRANIAL NEUROPATHY WITH LATTICE CORNEAL DYSTROPHY;; AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED, INCLUDED;; CORNEAL DYSTROPHY, LATTICE TYPE II, INCLUDED; LCD2, INCLUDED;; LATTICE CORNEAL DYSTROPHY, TYPE II, INCLUDED Number Sign 105150 CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE;; AMYLOIDOSIS VI;; HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS; HCHWA;; CEREBRAL HEMORRHAGE, HEREDITARY, WITH AMYLOIDOSIS Number Sign 105200 AMYLOIDOSIS, FAMILIAL VISCERAL AMYLOIDOSIS VIII;; OSTERTAG TYPE AMYLOIDOSIS;; GERMAN TYPE AMYLOIDOSIS;; AMYLOIDOSIS, FAMILIAL RENAL;; AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC Number Sign 105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED;; TRANSTHYRETIN AMYLOIDOSIS;; AMYLOID POLYNEUROPATHY, FAMILIAL; FAP AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED;; AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED Number Sign 105250 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1; PLCA1 AMYLOIDOSIS, PRIMARY CUTANEOUS, 1; PCA1;; PCA;; LICHEN AMYLOIDOSIS, FAMILIAL;; AMYLOIDOSIS IX;; AMYLOIDOSIS, FAMILIAL CUTANEOUS LICHEN NULL 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA Number Sign 105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL; FALS;; AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL DOMINANT AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, INCLUDED;; AMYOTROPHIC LATERAL SCLEROSIS, SPORADIC, INCLUDED Number Sign 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX OF GUAM;; GUAM DISEASE;; ALS-PDC Number Sign 105550 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1; FTDALS1 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS; FTDALS;; FRONTOTEMPORAL DEMENTIA AND/OR MOTOR NEURON DISEASE; FTDMND;; AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA; ALSFTD NULL 105563 ANAL SPHINCTER DYSPLASIA; ASDP NULL 105565 ANAL SPHINCTER MYOPATHY, INTERNAL PROCTALGIA FUGAX DUE TO ANAL SPHINCTER MYOPATHY NULL 105570 ANDROSTENONE, ABILITY TO SMELL NULL 105580 ANAL CANAL CARCINOMA CLOACOGENIC CARCINOMA, INCLUDED Asterisk 105590 ANAPLASTIC LYMPHOMA KINASE; ALK ALK/EML4 FUSION GENE, INCLUDED;; ALK/NPM1 FUSION GENE, INCLUDED;; ALK/RNF213 FUSION GENE, INCLUDED;; ALK/CARS FUSION GENE, INCLUDED;; ALK/CLTC FUSION GENE, INCLUDED Percent 105600 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III; CDAN3 DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III;; CDA III;; ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS;; ERYTHRORETICULOSIS, HEREDITARY BENIGN Number Sign 105650 DIAMOND-BLACKFAN ANEMIA 1; DBA1 DBA;; BLACKFAN-DIAMOND SYNDROME; BDS;; ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND;; ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC;; RED CELL APLASIA, PURE, HEREDITARY;; AREGENERATIVE ANEMIA, CHRONIC CONGENITAL;; ERYTHROGENESIS IMPERFECTA;; AASE-SMITH SYNDROME II;; AASE SYNDROME Percent 105800 ANEURYSM, INTRACRANIAL BERRY, 1; ANIB1 ANEURYSMAL SUBARACHNOID HEMORRHAGE, FAMILIAL NULL 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM Number Sign 105830 ANGELMAN SYNDROME; AS HAPPY PUPPET SYNDROME, FORMERLY ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED; ANCR, INCLUDED NULL 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED Asterisk 105850 ANGIOGENIN; ANG RIBONUCLEASE A FAMILY, 5; RNASE5 NULL 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT Percent 106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS SPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED;; HEMANGIOMATOSIS, DISSEMINATED, INCLUDED Number Sign 106100 ANGIOEDEMA, HEREDITARY, TYPE I; HAE1 ANGIONEUROTIC EDEMA, HEREDITARY; HANE;; C1 ESTERASE INHIBITOR, DEFICIENCY OF ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED; HAE2, INCLUDED Plus 106150 ANGIOTENSINOGEN; AGT SERPINA8 IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO, INCLUDED;; ANGIOTENSIN I, INCLUDED;; ANGIOTENSIN II, INCLUDED Caret 106160 MOVED TO 106165 Asterisk 106165 ANGIOTENSIN RECEPTOR 1; AGTR1 ANGIOTENSIN II RECEPTOR, VASCULAR TYPE 1; AT2R1;; ANGIOTENSIN RECEPTOR 1A; AGTR1A;; AT1R ANGIOTENSIN RECEPTOR 1B, INCLUDED; AGTR1B, INCLUDED Plus 106180 ANGIOTENSIN I-CONVERTING ENZYME; ACE ACE1;; DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1;; KININASE II ANGIOTENSIN I-CONVERTING ENZYME, PLASMA LEVEL OF, INCLUDED;; ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE, INCLUDED;; IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO, INCLUDED;; ANGIOTENSIN I-CONVERTING ENZYME, TESTICULAR, INCLUDED Number Sign 106190 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS; ANHD DANN-EPSTEIN-SOHAR SYNDROME Asterisk 106195 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 3; SLC4A3 SLC2C;; ANION EXCHANGER 3; AE3;; ANION EXCHANGER, NEURONAL Caret 106200 MOVED TO 106210 Number Sign 106210 ANIRIDIA 1; AN1 AN;; ANIRIDIA II, FORMERLY; AN2, FORMERLY CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY, INCLUDED NULL 106220 ANIRIDIA AND ABSENT PATELLA NULL 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT NULL 106240 ANISOCORIA NULL 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE; AFA Number Sign 106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; AEC AEC SYNDROME;; HAY-WELLS SYNDROME NULL 106280 ANKYLOGLOSSIA WITH OR WITHOUT TOOTH ANOMALIES; ANKG ANKYLOGLOSSIA;; 'TONGUE-TIE' Number Sign 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO;; MARIE-STRUMPELL SPONDYLITIS;; BECHTEREW SYNDROME NULL 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED; DISH, INCLUDED Asterisk 106410 ANKYRIN 2; ANK2 ANKYRIN, NONERYTHROID;; ANKYRIN, BRAIN;; ANKYRIN, NEURONAL;; ANKYRIN-B Asterisk 106490 ANNEXIN A3; ANXA3 ANNEXIN III; ANX3;; LIPOCORTIN III Asterisk 106491 ANNEXIN A4; ANXA4 ANNEXIN IV; ANX4;; PLACENTAL ANTICOAGULANT PROTEIN II;; ZYMOGEN GRANULE MEMBRANE-ASSOCIATED PROTEIN, 36-KD; ZAP36 NULL 106500 ANNULAR ERYTHEMA Number Sign 106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1 HYPODONTIA/OLIGODONTIA 1; HYD1;; SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF;; TOOTH AGENESIS, FAMILIAL TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT, INCLUDED;; HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT, INCLUDED Percent 106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1 ANOMALOUS PULMONARY VENOUS RETURN; APVR;; SCIMITAR SYNDROME;; SCIMITAR ANOMALY NULL 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION NULL 106900 ANONYCHIA-ECTRODACTYLY NULL 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY Percent 106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES COOKS SYNDROME Percent 107000 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6; NDNC6 ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY;; ANONYCHIA, PARTIAL Percent 107100 ANORECTAL ANOMALIES Percent 107200 ANOSMIA, ISOLATED CONGENITAL; ANIC ANOSMIA, CONGENITAL Caret 107240 MOVED TO 116930 Number Sign 107250 ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD;; ANTERIOR SEGMENT OCULAR DYSGENESIS; ASOD Caret 107253 REMOVED FROM DATABASE Asterisk 107254 ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 30.2A8; MIC12 LEUKOCYTE ANTIGEN MIC12 Asterisk 107257 ANTIGEN MSK3 IDENTIFIED BY MONOCLONAL ANTIBODY M68; MSK3 Asterisk 107260 ANTIGEN MSK41 IDENTIFIED BY MONOCLONAL ANTIBODY E3; MSK41 Asterisk 107265 CD19 ANTIGEN; CD19 B-LYMPHOCYTE ANTIGEN CD19 Asterisk 107266 CD22 ANTIGEN; CD22 B-CELL ANTIGEN CD22;; SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 2; SIGLEC2 Asterisk 107269 CD44 ANTIGEN; CD44 HERMES ANTIGEN;; Pgp1;; MDU3;; INLU-RELATED p80 GLYCOPROTEIN Asterisk 107270 CD38 ANTIGEN; CD38 ADP-RIBOSYL CYCLASE/CYCLIC ADP-RIBOSE HYDROLASE;; ECTO-NICOTINAMIDE ADENINE DINUCLEOTIDE GLYCOHYDROLASE Asterisk 107271 CD59 ANTIGEN; CD59 PROTECTIN;; HUMAN LEUKOCYTE ANTIGEN MIC11; MIC11;; SURFACE ANTIGEN RECOGNIZED BY MONOCLONAL ANTIBODY 16.3A5 Asterisk 107272 CD72 ANTIGEN; CD72 LYB2, MOUSE, HOMOLOG OF; LYB2 Asterisk 107273 CD69 ANTIGEN; CD69 EARLY T-CELL ACTIVATION ANTIGEN p60 Asterisk 107280 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 3; SERPINA3 ALPHA-1-ANTICHYMOTRYPSIN; AACT;; ANTICHYMOTRYPSIN, ALPHA-1; ACT Asterisk 107285 SECRETORY LEUKOCYTE PROTEASE INHIBITOR; SLPI ANTILEUKOPROTEASE;; HUMAN SEMINAL PROTEINASE INHIBITOR; HUSI Percent 107290 ANTIPYRINE METABOLISM Asterisk 107300 SERPIN PEPTIDASE INHIBITOR, CLADE C (ANTITHROMBIN), MEMBER 1; SERPINC1 ANTITHROMBIN III; AT3;; ANTITHROMBIN;; HEPARIN COFACTOR I Asterisk 107310 SOLUTE CARRIER FAMILY 9, MEMBER 1; SLC9A1 ANTIPORTER, SODIUM-HYDROGEN ION, AMILORIDE-SENSITIVE; APNH;; SODIUM/HYDROGEN EXCHANGER 1; NHE1;; Na+/H+ ANTIPORTER NULL 107320 ANTIPHOSPHOLIPID SYNDROME, FAMILIAL LUPUS ANTICOAGULANT, FAMILIAL Asterisk 107323 ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ALDH7A1 ANTIQUITIN; ATQ1;; ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE;; ALPHA-AASA DEHYDROGENASE;; AASA DEHYDROGENASE Asterisk 107325 CD3-EPSILON-ASSOCIATED PROTEIN; CD3EAP CD3 ANTIGEN, EPSILON-ASSOCIATED PROTEIN;; ANTISENSE ERCC1; ASE1;; POLYMERASE I-ASSOCIATED FACTOR, 49-KD, MOUSE, HOMOLOG OF; PAF49 Asterisk 107400 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1; SERPINA1 ALPHA-1-ANTITRYPSIN; AAT;; PROTEASE INHIBITOR 1; PI;; PI1;; ANTI-ELASTASE;; ANTITRYPSIN NULL 107410 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 2, PSEUDOGENE; SERPINA2P PROTEASE INHIBITOR 1-LIKE; PIL;; ANTITRYPSIN-RELATED PROTEIN; ATR;; ALPHA-1-ANTITRYPSIN-RELATED GENE SEQUENCE; ARGS;; SERPINA2 NULL 107440 ANTIVIRAL STATE REPRESSOR, REGULATOR OF; AVRR Asterisk 107450 INTERFERON-ALPHA, -BETA, AND -OMEGA RECEPTOR 1; IFNAR1 IFNAR;; ANTIVIRAL PROTEIN, ALPHA-TYPE; AVP;; ANTIVIRAL PROTEIN, BETA-TYPE;; INTERFERON-ALPHA RECEPTOR;; IFRC INTERFERON-BETA RECEPTOR; IFNBR Caret 107460 MOVED TO 107450 Asterisk 107470 INTERFERON-GAMMA RECEPTOR 1; IFNGR1 AVP, TYPE II;; ANTIVIRAL PROTEIN, TYPE II;; IMMUNE INTERFERON RECEPTOR 1;; CD119 ANTIGEN; CD119 Number Sign 107480 TOWNES-BROCKS SYNDROME 1; TBS1 RENAL-EAR-ANAL-RADIAL SYNDROME;; REAR SYNDROME;; ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES;; DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED NULL 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION NULL 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA Asterisk 107580 TRANSCRIPTION FACTOR AP2-ALPHA; TFAP2A AP2;; ACTIVATING ENHANCER-BINDING PROTEIN 2-ALPHA;; AP2 TRANSCRIPTION FACTOR; AP2TF;; TFAP2 Number Sign 107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC CONGENITAL DEFECT OF SKULL AND SCALP;; SCALP DEFECT, CONGENITAL Caret 107601 MOVED TO 100300 NULL 107640 APNEA, CENTRAL SLEEP Percent 107650 APNEA, OBSTRUCTIVE SLEEP OSA;; OBSTRUCTIVE SLEEP APNEA SYNDROME; OSAS;; SLEEP APNEA/HYPOPNEA SYNDROME; SAHS; OSAHS Plus 107670 APOLIPOPROTEIN A-II; APOA2 APOLIPOPROTEIN A-II DEFICIENCY, INCLUDED Plus 107680 APOLIPOPROTEIN A-I; APOA1 APOLIPOPROTEIN OF HIGH DENSITY LIPOPROTEIN APOA1 DEFICIENCY, INCLUDED;; APOA1/APOC3 FUSION GENE, INCLUDED Asterisk 107690 APOLIPOPROTEIN A-IV; APOA4 NULL 107700 APPENDICITIS, PRONENESS TO Asterisk 107710 APOLIPOPROTEIN C-I; APOC1 Asterisk 107720 APOLIPOPROTEIN C-III; APOC3 APOC3/APOA1 FUSION GENE, INCLUDED Asterisk 107730 APOLIPOPROTEIN B; APOB APOB100, INCLUDED;; APOB48, INCLUDED;; APOLIPOPROTEIN B ALLOTYPES, INCLUDED;; Ag LIPOPROTEIN TYPES, INCLUDED Asterisk 107740 APOLIPOPROTEIN D; APOD Asterisk 107741 APOLIPOPROTEIN E; APOE Asterisk 107748 APEX NUCLEASE 1; APEX1 APURINIC ENDONUCLEASE; APE; APE1;; HUMAN APURINIC ENDONUCLEASE 1; HAP1;; APURINIC/APYRIMIDINIC EXONUCLEASE;; REDOX FACTOR 1; REF1 Number Sign 107750 ARBITRARY RESTRICTION POLYMORPHISM 1 ANONYMOUS RESTRICTION POLYMORPHISM 1; ARP1;; RESTRICTION FRAGMENT LENGTH POLYMORPHISM 14A;; RFLP-14A;; ARP-14A; D14S1 Asterisk 107760 APOLIPOPROTEIN F; APOF LIPID TRANSFER INHIBITOR PROTEIN; LTIP Asterisk 107770 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1; LRP1 LIPOPROTEIN RECEPTOR-RELATED PROTEIN; LRP;; ALPHA-2-MACROGLOBULIN RECEPTOR; A2MR;; APOLIPOPROTEIN RECEPTOR; APR;; APOLIPOPROTEIN E RECEPTOR; APOER;; CD91;; CED1, C. ELEGANS, HOMOLOG OF Asterisk 107773 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 2; NR2F2 TRANSCRIPTION FACTOR COUP 2; TFCOUP2;; CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR 2; COUPTFII;; APOLIPOPROTEIN REGULATORY PROTEIN I; ARP1 Asterisk 107776 AQUAPORIN 1; AQP1 AQUAPORIN-CHIP;; AQP-CHIP;; CHANNEL-LIKE INTEGRAL MEMBRANE PROTEIN, 28-KD; CHIP28 Asterisk 107777 AQUAPORIN 2; AQP2 AQUAPORIN-CD NULL 107800 ARCUS CORNEAE CORNEAL ARCUS;; ARCUS SENILIS Asterisk 107820 ARGINYL-tRNA SYNTHETASE; RARS ARGINYL-tRNA SYNTHETASE 1; RARS1;; ARGINYL-tRNA SYNTHETASE, CYTOPLASMIC Asterisk 107830 ARGINASE 2; ARG2 Caret 107840 MOVED TO 215700 NULL 107850 ARM FOLDING PREFERENCE NULL 107900 ARMS, MALFORMATION OF Asterisk 107910 CYTOCHROME P450, FAMILY 19, SUBFAMILY A, POLYPEPTIDE 1; CYP19A1 CYTOCHROME P450, SUBFAMILY XIX; CYP19;; AROMATASE; ARO CYP19A1/CGNL1 FUSION GENE, INCLUDED;; CYP19A1/TMOD3 FUSION GENE, INCLUDED;; CYP19A1/TRPM7 FUSION GENE, INCLUDED NULL 107920 AROMATIC ALPHA-KETO ACID REDUCTASE ALPHA-KETO ACID REDUCTASE; KAR Asterisk 107930 DOPA DECARBOXYLASE; DDC AROMATIC L-AMINO ACID DECARBOXYLASE; AADC Asterisk 107940 ARRESTIN, BETA, 1; ARRB1 BETA-ARRESTIN 1; ARB1 Asterisk 107941 ARRESTIN, BETA, 2; ARRB2 BETA-ARRESTIN 2; ARB2;; BARR2 Caret 107950 MOVED TO 138800 Number Sign 107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1; ARVC1 UHL ANOMALY, INCLUDED;; CARDIOMYOPATHY, RIGHT VENTRICULAR DILATED, INCLUDED NULL 108000 ARTERIES, ANOMALIES OF Number Sign 108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN BAVM;; CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO, INCLUDED NULL 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS NULL 108100 ARTHRITIS, SACROILIAC Caret 108110 MOVED TO 108120 Number Sign 108120 ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; AMCD1 ARTHROGRYPOSIS, DISTAL, TYPE 2B4, INCLUDED; DA2B4, INCLUDED Caret 108130 MOVED TO 601680 Caret 108140 MOVED TO 601680 Number Sign 108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ABNORMALITIES;; OCULOMELIC AMYOPLASIA;; ARTHROGRYPOSIS, DISTAL, TYPE IIB; DAIIB NULL 108200 ARTHROGRYPOSIS, DISTAL, TYPE 6; DA6 ARTHROGRYPOSIS AND SENSORINEURAL DEAFNESS Number Sign 108300 STICKLER SYNDROME, TYPE I; STL1 STICKLER SYNDROME, VITREOUS TYPE 1;; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE;; ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM NULL 108320 ARTICHOKE, MODIFICATION OF TASTE BY Asterisk 108330 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1 CYTOCHROME P450, AROMATIC COMPOUND-INDUCIBLE;; ARYL HYDROCARBON HYDROXYLASE; AHH;; FLAVOPROTEIN-LINKED MONOOXYGENASE;; CYTOCHROME P1-450, DIOXIN-INDUCIBLE;; CYTOCHROME P1-450, INDUCIBLE BY 2,3,7,8-TETRACHLORODIBENZO-P-DIOXIN;; TCDD-INDUCIBLE CYTOCHROME P1-450; P450DX;; POLYCYCLIC AROMATIC COMPOUND-INDUCIBLE P450 Percent 108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY AHH INDUCIBILITY; AHHI Asterisk 108345 N-ACETYLTRANSFERASE 1; NAT1 ARYLAMIDE ACETYLASE 1; AAC1;; ARYLAMINE N-ACETYLTRANSFERASE 1;; ACETYL-CoA:ARYLAMINE N-ACETYLTRANSFERASE Asterisk 108355 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2; GRB2 ASH PROTEIN;; ABUNDANT SRC HOMOLOGY Asterisk 108360 ASIALOGLYCOPROTEIN RECEPTOR 1; ASGR1 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER H1; CLEC4H1 Asterisk 108361 ASIALOGLYCOPROTEIN RECEPTOR 2; ASGR2 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER H2; CLEC4H2 Asterisk 108370 ASPARAGINE SYNTHETASE; ASNS HUMAN COMPLEMENT FOR HAMSTER TEMPERATURE-SENSITIVE MUTANT ts11 Percent 108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY Caret 108400 REMOVED FROM DATABASE Asterisk 108410 ASPARAGINYL-tRNA SYNTHETASE; NARS ASNRS Percent 108420 SPERMATOGENIC FAILURE 2; SPGF2 ASPERMIOGENESIS FACTOR; ASG NULL 108450 ASYMMETRIC SHORT STATURE SYNDROME Number Sign 108500 EPISODIC ATAXIA, TYPE 2; EA2 ATAXIA, EPISODIC, WITH NYSTAGMUS;; EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED;; CEREBELLOPATHY, HEREDITARY PAROXYSMAL;; ATAXIA, FAMILIAL PAROXYSMAL;; ACETAZOLAMIDE-RESPONSIVE HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA; APCA;; CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE; CAPA Number Sign 108600 SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1 Percent 108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7 SPASTIC ATAXIA WITH CONGENITAL MIOSIS;; MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA NULL 108700 ATAXIA WITH FASCICULATIONS Number Sign 108720 ATELOSTEOGENESIS, TYPE I; AO1 AOI;; GIANT CELL CHONDRODYSPLASIA;; SPONDYLOHUMEROFEMORAL HYPOPLASIA Number Sign 108721 ATELOSTEOGENESIS, TYPE III; AO3 AOIII Percent 108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS ATHEROGENIC LIPOPROTEIN PHENOTYPE; ALP Asterisk 108728 ATP CITRATE LYASE; ACLY CLATP;; ATPCL;; ACL Asterisk 108729 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, GAMMA SUBUNIT 1; ATP5F1C ATP5C1;; ATP5C;; MITOCHONDRIAL ATP SYNTHASE, GAMMA SUBUNIT 1 Asterisk 108730 ATPase, Ca(2+)-TRANSPORTING, FAST-TWITCH 1; ATP2A1 SARCOPLASMIC RETICULUM Ca(2+)-ATPase 1; SERCA1 SERCA1 TRUNCATED ISOFORM, INCLUDED; S1T, INCLUDED Asterisk 108731 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 1; ATP2B1 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 1; PMCA1 Asterisk 108732 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 4; ATP2B4 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 4; PMCA4;; ATP2B2, FORMERLY Asterisk 108733 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 2; ATP2B2 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 2; PMCA2 Asterisk 108740 ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A2 ATP2B;; SARCOPLASMIC RETICULUM Ca(2+)-ATPase 2; SERCA2 Asterisk 108745 ATPase, H+ TRANSPORTING, LYSOSOMAL, 16-KD, V0 SUBUNIT C; ATP6V0C ATPase, H+ TRANSPORTING, LYSOSOMAL; ATP6L;; VACUOLAR PROTON PUMP, SUBUNIT C; VPPC Asterisk 108746 ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E1 ATP6V1E;; ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT E; ATP6E;; VACUOLAR PROTON PUMP, 31-KD SUBUNIT;; ATP6E2; E2 Percent 108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS Number Sign 108770 ATRIAL STANDSTILL 1; ATRST1 ATRIAL CARDIOMYOPATHY WITH HEART BLOCK;; CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE Asterisk 108780 NATRIURETIC PEPTIDE PRECURSOR A; NPPA ATRIAL NATRIURETIC POLYPEPTIDES; ANP;; CARDIONATRIN;; ATRIONATRIURETIC FACTOR;; ATRIAL NATRIURETIC FACTOR; ANF;; PRONATRIODILATIN; PND;; ATRIOPEPTIN Percent 108800 ATRIAL SEPTAL DEFECT 1; ASD1 ASD ATRIAL SEPTAL DEFECT, PRIMUM TYPE, INCLUDED;; ASD I, INCLUDED;; ATRIAL SEPTAL DEFECT, SECUNDUM TYPE, INCLUDED;; ASD II, INCLUDED Number Sign 108900 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ASD7 ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS NULL 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL Asterisk 108960 NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A; NPR1 ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE A; ANPRA; NPRA;; ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE A;; GUANYLYL CYCLASE 2A; GUC2A Asterisk 108961 NATRIURETIC PEPTIDE RECEPTOR 2; NPR2 GUANYLATE CYCLASE B; GCB;; GUC2B; GUCY2B;; ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B; ANPRB;; ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE B; NPRB;; ANPB RECEPTOR Asterisk 108962 NATRIURETIC PEPTIDE RECEPTOR C; NPR3 ATRIAL NATRIURETIC PEPTIDE CLEARANCE RECEPTOR; ANPRC;; ATRIONATRIURETIC PEPTIDE RECEPTOR, TYPE C Caret 108970 MOVED TO 120520 Percent 108980 PR INTERVAL, VARIATION IN ATRIOVENTRICULAR CONDUCTION TIME, VARIATION IN Number Sign 108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA ATROPHIA AREATA; AA;; PERIPAPILLARY CHORIORETINAL DEGENERATION, ICELANDIC TYPE;; HELICOIDAL PERIPAPILLARY CHORIORETINAL DEGENERATION; HPCD Asterisk 108990 ATTACHED CELL ANTIGEN 28.3.7; MIC7 Percent 109000 AURICULOOSTEODYSPLASIA NULL 109050 AUROCEPHALOSYNDACTYLY AURALCEPHALOSYNDACTYLY Asterisk 109090 SJOGREN SYNDROME ANTIGEN B; SSB AUTOANTIGEN La;; La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 3; LARP3 Asterisk 109091 CALRETICULIN; CALR CRT;; AUTOANTIGEN Ro; RO;; COMPLEMENT COMPONENT C1q RECEPTOR; CC1QR Asterisk 109092 TRIPARTITE MOTIF-CONTAINING PROTEIN 21; TRIM21 SJOGREN SYNDROME ANTIGEN A1; SSA1;; SICCA SYNDROME ANTIGEN A; SSA;; AUTOANTIGEN Ro/SSA, 52-KD; RO52 Number Sign 109100 AUTOIMMUNE DISEASE Asterisk 109110 AUTONOMOUSLY REPLICATING SEQUENCE 1 ARS1 NULL 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES DE HAUWERE SYNDROME;; IRIS DYSPLASIA WITH OCULAR HYPERTELORISM, PSYCHOMOTOR RETARDATION, AND SENSORINEURAL DEAFNESS NULL 109130 AXIAL OSTEOMALACIA Asterisk 109135 AXL RECEPTOR TYROSINE KINASE; AXL ONCOGENE AXL;; AXL TRANSFORMING GENE Number Sign 109150 MACHADO-JOSEPH DISEASE; MJD SPINOCEREBELLAR ATAXIA 3; SCA3;; SPINOCEREBELLAR ATROPHY III;; AZOREAN NEUROLOGIC DISEASE;; SPINOPONTINE ATROPHY;; NIGROSPINODENTATAL DEGENERATION Percent 109160 AZOTEMIA, FAMILIAL Asterisk 109170 LEUKOCYTE-SPECIFIC TRANSCRIPT 1; LST1 B144 PROTEIN;; D6S49E NULL 109180 BABOON M7 VIRUS INTEGRATION SITE; BEVI Asterisk 109190 SOLUTE CARRIER FAMILY 1 (NEUTRAL AMINO ACID TRANSPORTER), MEMBER 5; SLC1A5 NEUTRAL AMINO ACID TRANSPORTER-LIKE PROTEIN;; BABOON M7 VIRUS RECEPTOR; M7V1; M7VS1;; RD114 VIRUS RECEPTOR; RDRC;; RD114 SENSITIVITY Asterisk 109195 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN; BPI Percent 109200 ALOPECIA, ANDROGENETIC, 1; AGA1 ANDROGENETIC ALOPECIA; AGA BALDNESS, MALE PATTERN, INCLUDED; MPB, INCLUDED Plus 109270 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1 BAND 3 OF RED CELL MEMBRANE; BND3;; ERYTHROCYTE MEMBRANE PROTEIN BAND 3; EMPB3;; ERYTHROID PROTEIN BAND 3; EPB3;; ANION EXCHANGE PROTEIN 1; AE1 ACANTHOCYTOSIS, ONE FORM OF, INCLUDED Asterisk 109280 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 2; SLC4A2 ANION EXCHANGER, NONERYTHROID; AE2;; ERYTHROCYTE MEMBRANE PROTEIN BAND 3-LIKE 1; EPB3L1;; BAND 3-LIKE PROTEIN; BND3L;; NONERYTHROID BAND 3; NBND3;; HKB3 NULL 109300 BANKI SYNDROME Percent 109350 GASTROESOPHAGEAL REFLUX; GER GASTROESOPHAGEAL REFLUX DISEASE; GERD;; GASTROESOPHAGEAL REFLUX, PEDIATRIC Caret 109390 MOVED TO 301845 Number Sign 109400 BASAL CELL NEVUS SYNDROME; BCNS GORLIN SYNDROME;; GORLIN-GOLTZ SYNDROME;; NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS;; MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES Asterisk 109480 BASIGIN; BSG TCSF;; EXTRACELLULAR MATRIX METALLOPROTEINASE INDUCER; EMMPRIN;; M6 LEUKOCYTE ACTIVATION ANTIGEN; M6;; CD147 ANTIGEN; CD147 Percent 109500 BASILAR IMPRESSION, PRIMARY Asterisk 109530 CD48 ANTIGEN; CD48 B-CELL ACTIVATION MARKER; BCM1; BLAST1;; SLAM FAMILY, MEMBER 2; SLAMF2 Asterisk 109535 CD40 ANTIGEN; CD40 B CELL-ASSOCIATED MOLECULE CD40;; TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5; TNFRSF5 NULL 109540 B-CELL GROWTH FACTOR; BCGF B-CELL GROWTH FACTOR 1; BCGF1 Percent 109543 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 2 CLLS2;; B-CELL MALIGNANCY, LOW-GRADE;; DISRUPTED IN B-CELL MALIGNANCY; DBM;; LEUKEMIA, CHRONIC LYMPHOCYTIC, B-CELL; BCLL Asterisk 109545 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 17; TNFRSF17 B-CELL MATURATION FACTOR; BCMA; BCM Asterisk 109560 B-CELL LEUKEMIA/LYMPHOMA 3; BCL3 BCL4, FORMERLY Asterisk 109565 B-CELL LYMPHOMA 6; BCL6 ZINC FINGER PROTEIN 51; ZNF51;; LYMPHOMA-ASSOCIATED ZINC FINGER GENE ON CHROMOSOME 3; LAZ3 BCL6/H4FM FUSION GENE, INCLUDED;; BCL6/IKAROS FUSION GENE, INCLUDED;; BCL6/LCP1 FUSION GENE, INCLUDED;; BCL6/IL21R FUSION GENE, INCLUDED Asterisk 109580 B-CELL TRANSLOCATION GENE 1; BTG1 NULL 109600 BEETURIA BETACYANINURIA Asterisk 109610 TRANSLOCATOR PROTEIN, 18-KD; TSPO BENZODIAZEPINE RECEPTOR, PERIPHERAL; BZRP; PBR;; BENZODIAZEPINE PERIPHERAL BINDING SITE; PBS; BPBS;; ISOQUINOLINE CARBOXAMIDE-BINDING PROTEIN Plus 109630 BETA-1-ADRENERGIC RECEPTOR; ADRB1 ADRB1R;; B1AR CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF, INCLUDED Asterisk 109635 G PROTEIN-COUPLED RECEPTOR KINASE 2; GRK2 BETA-ADRENERGIC RECEPTOR KINASE 1; ADRBK1;; BARK1;; BETA-ARK1 Asterisk 109636 BETA-ADRENERGIC RECEPTOR KINASE 2; ADRBK2 BARK2;; GRK3 Asterisk 109640 BETA-GLYCEROL PHOSPHATASE; GPB Percent 109650 BEHCET SYNDROME BEHCET DISEASE; BD Percent 109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT TAURINE RENAL REABSORPTION NULL 109670 BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS Asterisk 109675 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GAL1 ST6GALI;; SIALYLTRANSFERASE 1; SIAT1;; ST6N Asterisk 109684 17-BETA-HYDROXYSTEROID DEHYDROGENASE I; HSD17B1 17-BETA-HSD I;; ESTRADIOL 17-BETA-DEHYDROGENASE II; EDH17B2 Asterisk 109685 17-BETA-HYDROXYSTEROID DEHYDROGENASE II; HSD17B2 17-BETA-HSD II Plus 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2 BETA-ADRENERGIC RECEPTOR; ADRBR;; BETA-2-ADRENOCEPTOR; BAR; B2AR;; ADRB2R BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO, INCLUDED Asterisk 109691 BETA-3-ADRENERGIC RECEPTOR; ADRB3 Asterisk 109700 BETA-2-MICROGLOBULIN; B2M Asterisk 109710 BETA-2-MICROGLOBULIN REGULATOR; B2MR Asterisk 109715 3-BETA-HYDROXYSTEROID DEHYDROGENASE 1; HSD3B1 3-BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-ISOMERASE, TYPE I;; 3-BETA-HSD, PLACENTAL TYPE Percent 109720 BILIARY CIRRHOSIS, PRIMARY, 1; PBC1 PBC Number Sign 109730 AORTIC VALVE DISEASE 1; AOVD1 AORTIC VALVE DISEASE; AOVD;; BICUSPID AORTIC VALVE; BAV;; AORTIC VALVE, BICUSPID;; AORTIC VALVE, CALCIFICATION OF;; AORTIC STENOSIS, CALCIFIC NULL 109740 BIFID NOSE, AUTOSOMAL DOMINANT Asterisk 109750 BILIVERDIN REDUCTASE A; BLVRA BILIVERDIN IX-ALPHA REDUCTASE;; BVR;; BLVR;; BVRA Asterisk 109760 5-HYDROXYTRYPTAMINE RECEPTOR 1A; HTR1A SEROTONIN 5-HT-1A RECEPTOR;; BETA-2-ADRENERGIC RECEPTOR-LIKE PROTEIN G-21 Asterisk 109770 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 1; CEACAM1 BILIARY GLYCOPROTEIN; BGP;; BILIARY GLYCOPROTEIN 1; BGP1;; CD66 ANTIGEN; CD66 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE PSEUDOGENES, INCLUDED;; CEACAMPS, INCLUDED Asterisk 109780 BKM DNA BANDED KRAIT MINOR SATELLITE DNA; BKMA1 BKMA2, INCLUDED Number Sign 109800 BLADDER CANCER NULL 109820 BLADDER DIVERTICULUM NULL 109900 BLEPHAROCHALASIS AND DOUBLE LIP ASCHER SYNDROME NULL 110000 BLEPHAROCHALASIS, SUPERIOR NULL 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME PASHAYAN SYNDROME Number Sign 110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES BPES, TYPE I, INCLUDED;; BPES WITH OVARIAN FAILURE, INCLUDED;; BPES, TYPE II, INCLUDED;; BPES WITHOUT OVARIAN FAILURE, INCLUDED;; BPES WITH DUANE RETRACTION SYNDROME, INCLUDED NULL 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS NULL 110250 BLOOD GROUP--ABO SUPPRESSOR Asterisk 110300 ABO GLYCOSYLTRANSFERASE; ABO ABO HISTO-BLOOD GROUP GLYCOSYLTRANSFERASES TRANSFERASE A, ALPHA 1-3-N-ACETYLGALACTOSAMINYLTRANSFERASE, INCLUDED;; TRANSFERASE B, ALPHA 1-3-GALACTOSYLTRANSFERASE, INCLUDED NULL 110310 BLOOD GROUP--ABH ANTIGEN, TYPE 2 Percent 110350 BLOOD GROUP--AHONEN; AN Number Sign 110450 BLOOD GROUP, COLTON SYSTEM; CO COLTON BLOOD GROUP SYSTEM COLTON-NULL PHENOTYPE, INCLUDED Number Sign 110500 BLOOD GROUP, DIEGO SYSTEM; DI DIEGO BLOOD GROUP SYSTEM Asterisk 110600 ADP-RIBOSYLTRANSFERASE 4; ART4 DOK1 Number Sign 110700 BLOOD GROUP, DUFFY SYSTEM; FY DUFFY BLOOD GROUP SYSTEM PLASMODIUM VIVAX, RESISTANCE TO, INCLUDED NULL 110720 BLOOD GROUP--En Asterisk 110750 GLYCOPHORIN C; GYPC GPC;; SIALOGLYCOPROTEIN, BETA GLYCOPHORIN D, INCLUDED; GYPD, INCLUDED; GPD, INCLUDED;; SIALOGLYCOPROTEIN, GAMMA, INCLUDED Number Sign 110800 BLOOD GROUP, I SYSTEM; Ii I BLOOD GROUP SYSTEM;; Ii BLOOD GROUP SYSTEM ADULT i PHENOTYPE, INCLUDED Number Sign 110900 BLOOD GROUP--KELL SYSTEM; KEL BLOOD GROUP--KELL-CELLANO SYSTEM KELL-NULL, INCLUDED;; K(0), INCLUDED;; Ko, INCLUDED Number Sign 111000 BLOOD GROUP, KIDD SYSTEM; JK KIDD BLOOD GROUP SYSTEM Plus 111100 FUCOSYLTRANSFERASE 3; FUT3 LEWIS ENZYME BLOOD GROUP--LEWIS SYSTEM, INCLUDED; Le, INCLUDED;; Les, INCLUDED Percent 111130 BLOOD GROUP--LKE; LKE BLOOD GROUP--LUKE, FORMERLY Number Sign 111150 BLOOD GROUP--LUTHERAN INHIBITOR; INLU DOMINANT LU (a-b-) PHENOTYPE Number Sign 111200 BLOOD GROUP--LUTHERAN SYSTEM; LU AUBERGER SYSTEM, INCLUDED; AU, INCLUDED Number Sign 111250 BLOOD GROUP SYSTEM, LANDSTEINER-WIENER; LW LANDSTEINER-WIENER BLOOD GROUP SYSTEM Number Sign 111300 BLOOD GROUP, MN; MN MN BLOOD GROUP BLOOD GROUP, MNSs SYSTEM, INCLUDED;; MNSs BLOOD GROUP SYSTEM, INCLUDED;; MNS BLOOD GROUP SYSTED, INCLUDED NULL 111360 BLOOD GROUP--NEWFOUNDLAND; NFLD Number Sign 111380 BLOOD GROUP--OK; OK Number Sign 111400 BLOOD GROUP, P1PK SYSTEM P(1) PHENOTYPE, INCLUDED;; P(2) PHENOTYPE, INCLUDED;; P1(k) PHENOTYPE, INCLUDED;; P2(k) PHENOTYPE, INCLUDED;; p PHENOTYPE, INCLUDED;; NOR POLYAGGLUTINATION SYNDROME, INCLUDED Caret 111410 MOVED TO 111400 Number Sign 111500 BLOOD GROUP--PRIVATE SYSTEMS ANTIGENIC DETERMINANTS OF LOW FREQUENCY IN THE POPULATION Number Sign 111600 BLOOD GROUP, LANGEREIS SYSTEM; LAN Number Sign 111620 RADIN BLOOD GROUP ANTIGEN; RD BLOOD GROUP--RADIN ANTIGEN Asterisk 111680 RHESUS BLOOD GROUP, D ANTIGEN; RHD BLOOD GROUP--RHESUS SYSTEM D POLYPEPTIDE Caret 111690 MOVED TO 111700 Asterisk 111700 RHESUS BLOOD GROUP, CcEe ANTIGENS; RHCE BLOOD GROUP--RHESUS SYSTEM Cc/Ee POLYPEPTIDE;; RHC;; RHE Asterisk 111730 BETA-1,4-N-ACETYL-GALACTOSAMINYLTRANSFERASE 2; B4GALNT2 GALGT2;; CT-GalNAc TRANSFERASE Number Sign 111740 BLOOD GROUP, Ss; Ss Ss BLOOD GROUP Number Sign 111750 BLOOD GROUP--SCIANNA SYSTEM; SC SCIANNA BLOOD GROUP Percent 111800 BLOOD GROUP--STOLTZFUS SYSTEM; Sf Percent 112000 BLOOD GROUP--Ul SYSTEM; UL Number Sign 112010 BLOOD GROUP--WALDNER TYPE; WD WALDNER BLOOD GROUP ANTIGEN Number Sign 112050 BLOOD GROUP--WRIGHT ANTIGEN; WR WRIGHT BLOOD GROUP ANTIGEN Number Sign 112100 YT BLOOD GROUP ANTIGEN CARTWRIGHT ANTIGEN Percent 112200 BLUE RUBBER BLEB NEVUS BEAN SYNDROME Asterisk 112203 CD80 ANTIGEN; CD80 CD28 ANTIGEN LIGAND 1; CD28LG1;; B-LYMPHOCYTE ACTIVATION ANTIGEN B7-1; LAB7;; B71 ANTIGEN Asterisk 112205 CD79A ANTIGEN; CD79A IMMUNOGLOBULIN-ASSOCIATED ALPHA; IGA;; B LYMPHOCYTE-SPECIFIC MB1 PROTEIN; MB1;; MEMBRANE-BOUND IMMUNOGLOBULIN IgM-ALPHA Asterisk 112210 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 1; MS4A1 B-LYMPHOCYTE SURFACE ANTIGEN B1; B1;; CD20 Number Sign 112240 COLE-CARPENTER SYNDROME 1; CLCRP1 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES Number Sign 112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA; BDMF;; BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA;; MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY Asterisk 112260 GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, BONE; BGLAP BONE GAMMA-CARBOXYGLUTAMIC ACID PROTEIN;; BONE Gla PROTEIN; BGP;; OSTEOCALCIN; OC Asterisk 112261 BONE MORPHOGENETIC PROTEIN 2; BMP2 BONE MORPHOGENETIC PROTEIN 2A; BMP2A REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 110 KB DOWNSTREAM OF BMP2, INCLUDED; RECE-BMP2, INCLUDED Asterisk 112262 BONE MORPHOGENETIC PROTEIN 4; BMP4 BONE MORPHOGENETIC PROTEIN 2B; BMP2B;; BMP2B1 Asterisk 112263 BONE MORPHOGENETIC PROTEIN 3; BMP3 OSTEOGENIN Asterisk 112264 BONE MORPHOGENETIC PROTEIN 1; BMP1 TOLLOID, DROSOPHILA, HOMOLOG OF; TLD;; PROCOLLAGEN C-PROTEINASE Asterisk 112265 BONE MORPHOGENETIC PROTEIN 5; BMP5 Asterisk 112266 BONE MORPHOGENETIC PROTEIN 6; BMP6 VG1-RELATED SEQUENCE; VGR1 Asterisk 112267 BONE MORPHOGENETIC PROTEIN 7; BMP7 OSTEOGENIC PROTEIN 1; OP1 NULL 112270 BONE PAIN, PERIODIC Percent 112300 BOOK SYNDROME PHC SYNDROME Number Sign 112310 BOOMERANG DYSPLASIA; BOOMD Percent 112350 WEISMANN-NETTER SYNDROME; WNS BOWING OF LEGS, ANTERIOR, WITH DWARFISM;; TOXOPACHYOSTEOSE DIAPHYSAIRE TIBIO-PERONIERE NULL 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY Number Sign 112410 HYPERTENSION AND BRACHYDACTYLY SYNDROME; HTNB BRACHYDACTYLY WITH HYPERTENSION;; BRACHYDACTYLY, TYPE E, WITH SHORT STATURE AND HYPERTENSION;; BILGINTURAN SYNDROME NULL 112430 LONG-THUMB BRACHYDACTYLY SYNDROME BRACHYDACTYLY, LONG-THUMB TYPE Percent 112440 BRACHYDACTYLY, COMBINED B AND E TYPES PITT-WILLIAMS BRACHYDACTYLY;; BRACHYDACTYLY, BALLARD TYPE NULL 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION CHRISTIAN BRACHYDACTYLY Number Sign 112500 BRACHYDACTYLY, TYPE A1; BDA1 FARABEE-TYPE BRACHYDACTYLY Number Sign 112600 BRACHYDACTYLY, TYPE A2; BDA2 BRACHYMESOPHALANGY II;; MOHR-WRIEDT TYPE BRACHYDACTYLY Percent 112700 BRACHYDACTYLY, TYPE A3; BDA3 BRACHYMESOPHALANGY V;; BRACHYDACTYLY-CLINODACTYLY Percent 112800 BRACHYDACTYLY, TYPE A4; BDA4 BRACHYMESOPHALANGY II AND V;; TEMTAMY TYPE BRACHYDACTYLY Caret 112900 MOVED TO 112800 NULL 112910 OSEBOLD-REMONDINI SYNDROME BRACHYMESOPHALANGY WITH MESOMELIC SHORT LIMBS AND CARPAL AND TARSAL OSSEOUS ABNORMALITIES;; BRACHYDACTYLY, TYPE A6; BDA6 Number Sign 113000 BRACHYDACTYLY, TYPE B1; BDB1 BRACHYDACTYLY, TYPE B; BDB Number Sign 113100 BRACHYDACTYLY, TYPE C; BDC BRACHYDACTYLY, HAWS TYPE Number Sign 113200 BRACHYDACTYLY, TYPE D; BDD STUB THUMB Number Sign 113300 BRACHYDACTYLY, TYPE E1; BDE1 BRACHYDACTYLY, TYPE E; BDE NULL 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II NULL 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA NULL 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA NULL 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME NULL 113470 BRACHYMESOMELIA-RENAL SYNDROME NULL 113475 BRACHYMETATARSUS IV METATARSUS IV, SHORT;; TOE, FOURTH, SHORT NULL 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME BOD SYNDROME NULL 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME Number Sign 113500 BRACHYOLMIA TYPE 3; BCYM3 BRACHYOLMIA, AUTOSOMAL DOMINANT;; BRACHYRACHIA Asterisk 113503 BRADYKININ RECEPTOR B2; BDKRB2 BRADYKININ RECEPTOR 2; BKR2 Asterisk 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF Asterisk 113508 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ETA ISOFORM; YWHAH BRAIN PROTEIN 14-3-3, ETA ISOFORM;; TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN 1; YWHA1;; 14-3-3-ETA Asterisk 113510 BRAIN-SPECIFIC PROTEIN Pc-1 DUARTE BRAIN-SPECIFIC PROTEIN Asterisk 113520 BRANCHED-CHAIN AMINOTRANSFERASE 1; BCAT1 BCT1;; PLACENTAL PROTEIN 18; PP18 P3, INCLUDED Asterisk 113530 BRANCHED-CHAIN AMINOTRANSFERASE 2; BCAT2 BCT2 NULL 113600 BRANCHIAL CLEFT ANOMALIES BRANCHIAL CYSTS, INCLUDED NULL 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA Number Sign 113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS BOF SYNDROME;; BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING;; HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;; LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME Caret 113630 MOVED TO 151410 Caret 113640 MOVED TO 151410 Number Sign 113650 BRANCHIOOTORENAL SYNDROME 1; BOR1 BRANCHIOOTORENAL DYSPLASIA;; MELNICK-FRASER SYNDROME Caret 113660 MOVED TO 151410 Percent 113670 HYPERTROPHY OF THE BREAST, JUVENILE; JHB GIGANTOMASTIA, JUVENILE Percent 113700 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1 AMASTIA;; ATHELIA;; AMAZIA Asterisk 113703 RIBOSOMAL PROTEIN L13; RPL13 BREAST BASIC CONSERVED GENE 1; BBC1;; D16S444E Asterisk 113705 BREAST CANCER 1 GENE; BRCA1 Asterisk 113710 TREFOIL FACTOR 1; TFF1 BREAST CANCER ESTROGEN-INDUCIBLE SEQUENCE; BCEI;; GASTROINTESTINAL TREFOIL PROTEIN pS2; pS2 Asterisk 113720 BREAST CANCER-ASSOCIATED DF3 ANTIGEN NULL 113721 BREAST CANCER-RELATED REGULATOR OF TP53 BCPR;; BREAST CANCER SUPPRESSOR Asterisk 113725 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 2; POU4F2 POU-DOMAIN TRANSCRIPTION FACTOR BRN3B; BRN3B;; BRN3.2, MOUSE, HOMOLOG OF Asterisk 113730 UNCOUPLING PROTEIN 1; UCP1 UCP;; BROWN ADIPOSE TISSUE UNCOUPLING PROTEIN;; THERMOGENIN Number Sign 113750 ALBINISM, OCULOCUTANEOUS, TYPE VI; OCA6 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4, INCLUDED; SHEP4, INCLUDED;; SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN, INCLUDED Number Sign 113800 EPIDERMOLYTIC HYPERKERATOSIS; EHK BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ;; BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; BCIE;; BULLOUS ICHTHYOSIFORM ERYTHRODERMA; BIE;; EPIDERMOLYTIC ICHTHYOSIS EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED Asterisk 113810 DYSTONIN; DST DYSTONIA MUSCULORUM, MOUSE, HOMOLOG OF; DMH; DT;; BULLOUS PEMPHIGOID ANTIGEN 1; BPAG1;; BP240 Asterisk 113811 COLLAGEN, TYPE XVII, ALPHA-1; COL17A1 BULLOUS PEMPHIGOID ANTIGEN 2; BPAG2;; BP180 Number Sign 113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A PFHBIA;; HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI;; LENEGRE-LEV DISEASE;; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD;; BUNDLE BRANCH BLOCK;; HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBD HEART BLOCK, NONPROGRESSIVE, INCLUDED;; CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED Percent 113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT Asterisk 113955 BUNGAROTOXIN, ALPHA, RECEPTOR FOR; BGTXR NULL 113960 BUTYRYLESTERASE 1 Number Sign 113970 BURKITT LYMPHOMA; BL Asterisk 113995 COMPLEMENT COMPONENT 5a RECEPTOR 1; C5AR1 COMPLEMENT COMPONENT 5 RECEPTOR 1; C5R1;; C5a ANAPHYLATOXIN RECEPTOR; C5AR;; CD88 ANTIGEN; CD88 Number Sign 114000 CAFFEY DISEASE INFANTILE CORTICAL HYPEROSTOSIS Asterisk 114010 CARBAMOYL PHOSPHATE SYNTHETASE/ASPARTATE TRANSCARBAMOYLASE/DIHYDROOROTASE; CAD CAD TRIFUNCTIONAL PROTEIN;; CPSase/ATCase/DHOase Asterisk 114019 CADHERIN 15; CDH15 CADHERIN, MUSCLE;; M-CADHERIN; MCAD;; CDHM;; CDH14, FORMERLY;; CDH3, FORMERLY Asterisk 114020 CADHERIN 2; CDH2 CADHERIN, NEURONAL;; N-CADHERIN; NCAD;; CALCIUM-DEPENDENT ADHESION PROTEIN, NEURONAL; CDHN Asterisk 114021 CADHERIN 3; CDH3 CADHERIN, PLACENTAL;; P-CADHERIN; PCAD;; CALCIUM-DEPENDENT ADHESION PROTEIN, PLACENTAL;; CDHP Asterisk 114025 CATENIN, ALPHA-2; CTNNA2 ALPHA-N-CATENIN;; CADHERIN-ASSOCIATED PROTEIN, RELATED; CAPR NULL 114030 CAFE-AU-LAIT SPOTS, MULTIPLE Asterisk 114050 CALBINDIN 1; CALB1 CALB;; CALBINDIN, 28-KD Asterisk 114051 CALBINDIN 2; CALB2 CALBINDIN, 29-KD;; CALBINDIN D29K;; CALRETININ NULL 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL Asterisk 114070 ANNEXIN A6; ANXA6 ANNEXIN VI; ANX6;; CALCIUM-BINDING PROTEIN p68;; CALELECTRIN Asterisk 114078 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA; CAMK2A CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE TYPE IIA Asterisk 114080 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV; CAMK4 BRAIN Ca(2+)/CALMODULIN-DEPENDENT PROTEIN KINASE TYPE IV Asterisk 114085 S100 CALCIUM-BINDING PROTEIN A10; S100A10 CALPACTIN I, LIGHT CHAIN; CAL1L;; CALPACTIN I, p11 SUBUNIT; CLP11;; ANNEXIN II LIGAND; ANX2LG;; ANNEXIN II, LIGHT CHAIN;; p11 Asterisk 114090 CALPASTATIN; CAST Percent 114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET IBGC, CHILDHOOD-ONSET;; STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;; CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET Asterisk 114105 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP3CA CALCINEURIN A; CALNA; CANA;; CALCINEURIN A1; CALNA1;; CALCINEURIN A-ALPHA;; CNA-ALPHA;; PROTEIN PHOSPHATASE 2B, CATALYTIC SUBUNIT, ALPHA ISOFORM, FORMERLY; PPP2B, FORMERLY Asterisk 114106 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, BETA ISOFORM; PPP3CB CALCINEURIN A-BETA;; CNA-BETA;; CALCINEURIN A2; CALNA2;; CALCINEURIN B, FORMERLY; CALNB, FORMERLY;; PROTEIN PHOSPHATASE 2B, CATALYTIC SUBUNIT, BETA ISOFORM, FORMERLY Asterisk 114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC CALCINEURIN A3; CALNA3;; CALCINEURIN A-GAMMA;; CALCINEURIN, TESTIS-SPECIFIC CATALYTIC SUBUNIT;; PROTEIN PHOSPHATASE 2B, CATALYTIC SUBUNIT, GAMMA ISOFORM, FORMERLY Asterisk 114110 S100 CALCIUM-BINDING PROTEIN A6; S100A6 CALCYCLIN; CACY Caret 114120 MOVED TO 211900 Asterisk 114130 CALCITONIN/CALCITONIN-RELATED POLYPEPTIDE, ALPHA; CALCA CALCITONIN; CALC1; CT CALCITONIN GENE-RELATED PEPTIDE, INCLUDED; CGRP, INCLUDED;; KATACALCIN, INCLUDED Asterisk 114131 CALCITONIN RECEPTOR; CALCR CTR; CTR1 Percent 114140 CALLOSITIES, HEREDITARY PAINFUL CALLOSITIES, PAINFUL PLANTAR Percent 114150 CAMPTOBRACHYDACTYLY Asterisk 114160 CALCITONIN-RELATED POLYPEPTIDE, BETA; CALCB CALCITONIN GENE-RELATED PEPTIDE-2; CGRP2; CALC2 Asterisk 114170 CALPAIN, SMALL SUBUNIT 1; CAPNS1 CALPAIN 4; CAPN4;; CANPS;; CALCIUM-DEPENDENT PROTEASE, SMALL SUBUNIT; CDPS Asterisk 114180 CALMODULIN 1; CALM1 PHOSPHORYLASE KINASE, DELTA SUBUNIT; PHKD Caret 114181 MOVED TO 114180 Asterisk 114182 CALMODULIN 2; CALM2 PHKD2 Asterisk 114183 CALMODULIN 3; CALM3 PHKD3 Asterisk 114184 CALMODULIN-LIKE 3; CALML3 CALMODULIN-LIKE PROTEIN; CLP Asterisk 114190 CALCITONIN RECEPTOR-LIKE GENE; CALCRL CALCITONIN RECEPTOR-LIKE RECEPTOR; CRLR;; CALCITONIN GENE-RELATED PEPTIDE RECEPTOR; CGRPR Percent 114200 CAMPTODACTYLY 1; CAMPD1 CAMPTODACTYLY AND KNUCKLE PADS STREBLODACTYLY, INCLUDED Asterisk 114204 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 1; CACNA2D1 CALCIUM CHANNEL, L TYPE, ALPHA-2 POLYPEPTIDE; CACNL2A;; CALCIUM CHANNEL, ALPHA-2/DELTA SUBUNIT Asterisk 114205 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNA1C CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 1, CARDIAC MUSCLE; CACNL1A1;; CCHL1A1;; CaV1.2;; CALCIUM CHANNEL, CARDIAC DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;; DHPR, ALPHA-1 SUBUNIT;; CACH2 Asterisk 114206 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1D SUBUNIT; CACNA1D CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 2; CACNL1A2;; CALCIUM CHANNEL, NEUROENDOCRINE/BRAIN-TYPE, ALPHA-1 SUBUNIT Asterisk 114207 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-1 SUBUNIT; CACNB1 CALCIUM CHANNEL, L TYPE, BETA-1 POLYPEPTIDE; CACNLB1;; CALCIUM CHANNEL, NEURONAL DIHYDROPYRIDINE-SENSITIVE, BETA SUBUNIT; CCHLB;; CCHLB1 Asterisk 114208 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1S SUBUNIT; CACNA1S CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 3, SKELETAL MUSCLE; CACNL1A3;; CCHL1A3;; CALCIUM CHANNEL, SKELETAL MUSCLE DIHYDROPYRIDINE-SENSITIVE, ALPHA-1 SUBUNIT;; CaV.1 Asterisk 114209 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-1 SUBUNIT; CACNG1 CALCIUM CHANNEL, L TYPE, GAMMA POLYPEPTIDE; CACNLG;; CALCIUM CHANNEL, NEURONAL DIHYDROPYRIDINE-SENSITIVE, GAMMA SUBUNIT Asterisk 114210 S100 CALCIUM-BINDING PROTEIN A4; S100A4 CALCIUM PLACENTAL PROTEIN; CAPL;; FIBROBLAST-SPECIFIC PROTEIN 1; FSP1 Asterisk 114212 CALCYPHOSINE; CAPS Asterisk 114213 CALDESMON 1; CALD1 CDM Asterisk 114217 CALNEXIN; CANX CNX Asterisk 114220 CALPAIN 1; CAPN1 CALPAIN, LARGE POLYPEPTIDE L1;; CALPAIN I, LARGE SUBUNIT; CANPL1;; CALCIUM-ACTIVATED NEUTRAL PROTEASE 1, CATALYTIC SUBUNIT; CANP1;; CALCIUM-ACTIVATED NEUTRAL PROTEASE, MU, LARGE SUBUNIT;; MU-CANP, LARGE SUBUNIT;; CALPAIN, MU, LARGE SUBUNIT;; MU-CALPAIN, LARGE SUBUNIT;; MU-CAPN, LARGE SUBUNIT Asterisk 114230 CALPAIN 2; CAPN2 CALPAIN, LARGE POLYPEPTIDE L2;; CALPAIN II, LARGE SUBUNIT; CANPL2;; CALCIUM-ACTIVATED NEUTRAL PROTEASE 2, CATALYTIC SUBUNIT; CANP2 Asterisk 114240 CALPAIN 3; CAPN3 CALPAIN, LARGE POLYPEPTIDE L3;; CALPAIN III, LARGE SUBUNIT; CANPL3;; CALCIUM-ACTIVATED NEUTRAL PROTEASE 3, MUSCLE-SPECIFIC, LARGE SUBUNIT; CANP3;; p94 Asterisk 114250 CALSEQUESTRIN 1; CASQ1 CASQ;; CALSEQUESTRIN, FAST-TWITCH, SKELETAL MUSCLE;; CALMITINE;; CALSEQUESTRIN, CELL Asterisk 114251 CALSEQUESTRIN 2; CASQ2 CALSEQUESTRIN, FAST-TWITCH, CARDIAC MUSCLE Caret 114260 MOVED TO 300006 Asterisk 114280 CAMPATH-1 ANTIGEN; CDW52 Number Sign 114290 CAMPOMELIC DYSPLASIA CMPD;; CMD1; CMPD1;; CMPD1/SRA1 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;; ACAMPOMELIC CAMPOMELIC DYSPLASIA, INCLUDED;; ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED;; CAMPTOMELIC DYSPLASIA, INCLUDED Number Sign 114300 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 GORDON SYNDROME;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA;; CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT Asterisk 114350 NUCLEOPORIN, 214-KD; NUP214 CAIN GENE; CAN;; D9S46E NUP214/DEK FUSION GENE, INCLUDED;; NUP214/ABL1 FUSION GENE, INCLUDED Caret 114400 MOVED TO 120435 NULL 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE Number Sign 114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED Number Sign 114500 COLORECTAL CANCER; CRC COLON CANCER Number Sign 114550 HEPATOCELLULAR CARCINOMA HCC;; CANCER, HEPATOCELLULAR;; LIVER CANCER;; LIVER CELL CARCINOMA; LCC;; HEPATOMA HEPATOBLASTOMA, INCLUDED;; HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION, INCLUDED Percent 114580 CANDIDIASIS, FAMILIAL, 1; CANDF1 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH OR WITHOUT THYROID DISEASE;; CMCT Percent 114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT Asterisk 114610 CANNABINOID RECEPTOR 1; CNR1 CB1 RECEPTOR; CB1; CB1R NULL 114620 CRANIOFACIOFRONTODIGITAL SYNDROME CANTU CRANIOFACIOFRONTODIGITAL SYNDROME NULL 114650 CAR FACTOR DEFICIENCY NULL 114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH Asterisk 114750 CARBONIC ANHYDRASE III; CA3 CA III;; CARBONIC ANHYDRASE, MUSCLE-SPECIFIC;; CARBONIC ANHYDRASE C Asterisk 114760 CARBONIC ANHYDRASE IV; CA4 CA IV Asterisk 114761 CARBONIC ANHYDRASE VA; CA5A CARBONIC ANHYDRASE, MITOCHONDRIAL;; CARBONIC ANHYDRASE 5; CA5;; CA V;; CA VA Asterisk 114770 CARBONIC ANHYDRASE VII; CA7 CA VII Asterisk 114780 CARBONIC ANHYDRASE VI; CA6 CA VI;; CARBONIC ANHYDRASE, SECRETED;; GUSTIN Asterisk 114800 CARBONIC ANHYDRASE I; CA1 CA I;; CARBONIC ANHYDRASE A;; CARBONIC ANHYDRASE B, FORMERLY Asterisk 114815 CARBONIC ANHYDRASE VIII; CA8 CA VIII;; CARBONIC ANHYDRASE-RELATED POLYPEPTIDE; CARP;; CARBONIC ANHYDRASE-LIKE SEQUENCE; CALS Asterisk 114830 CARBONYL REDUCTASE 1; CBR1 CARBONYL REDUCTASE; CBR Asterisk 114835 CARBOXYLESTERASE 1; CES1 SERINE ESTERASE 1; SES1;; CARBOXYLESTERASE, LIVER;; TRIACYLGLYCEROL HYDROLASE; TGH;; CARBOXYLESTERASE 2, FORMERLY; CES2, FORMERLY;; CHOLESTEROL ESTER HYDROLASE, NEUTRAL, MACROPHAGE-DERIVED; CEH Caret 114836 MOVED TO 114835 Asterisk 114840 CARBOXYL-ESTER LIPASE; CEL CARBOXYL-ESTER HYDROLASE;; CHOLESTEROL ESTERASE;; LYSOPHOSPHOLIPASE;; BILE SALT-STIMULATED LIPASE; BSSL;; BILE SALT-DEPENDENT LIPASE; BSDL BILE SALT-DEPENDENT LIPASE, ONCOFETAL ISOFORM, INCLUDED;; FETOACINAR PANCREATIC PROTEIN, INCLUDED; FAPP, INCLUDED; FAP, INCLUDED;; CARBOXYL-ESTER LIPASE-LIKE, INCLUDED; CELL, INCLUDED;; CARBOXYL-ESTER LIPASE PSEUDOGENE, INCLUDED; CELP, INCLUDED Caret 114841 MOVED TO 114840 Asterisk 114850 CARBOXYPEPTIDASE A1; CPA1 CPA;; PROCARBOXYPEPTIDASE A1, PANCREATIC Asterisk 114851 CARBOXYPEPTIDASE A3, MAST CELL; CPA3 MC-CPA Asterisk 114852 CARBOXYPEPTIDASE B1, TISSUE; CPB1 CARBOXYPEPTIDASE B, PANCREATIC;; PROCARBOXYPEPTIDASE B, PANCREATIC; PCPB;; PANCREAS-SPECIFIC PROTEIN; PASP Asterisk 114855 CARBOXYPEPTIDASE E; CPE CARBOXYPEPTIDASE H Asterisk 114860 CARBOXYPEPTIDASE M; CPM Asterisk 114890 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5; CEACAM5 CARCINOEMBRYONIC ANTIGEN; CEA Percent 114900 CARCINOID TUMORS, INTESTINAL NULL 115000 CARDIAC ARRHYTHMIA EXTRASYSTOLES Number Sign 115080 CARDIAC CONDUCTION DEFECT SUDDEN CARDIAC DEATH, INCLUDED; SCD, INCLUDED;; FAMILIAL SUDDEN DEATH, INCLUDED Number Sign 115150 CARDIOFACIOCUTANEOUS SYNDROME 1; CFC1 CFC SYNDROME;; CFCS Number Sign 115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 Number Sign 115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 Number Sign 115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO, INCLUDED Caret 115198 MOVED TO 192600 AND 115197 Number Sign 115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; CDCD1;; CARDIOMYOPATHY, IDIOPATHIC DILATED;; CARDIOMYOPATHY, FAMILIAL IDIOPATHIC;; CARDIOMYOPATHY, CONGESTIVE Number Sign 115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 RCM NULL 115250 COLLAGENOMA, FAMILIAL CUTANEOUS Number Sign 115300 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT; HCVAD CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1, INCLUDED Number Sign 115310 PARAGANGLIOMAS 4; PGL4 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS;; PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA;; PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL;; PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL;; PARAGANGLIOMA, FAMILIAL MALIGNANT NULL 115400 CARPAL DISPLACEMENT CARPAL BOSSING Number Sign 115430 CARPAL TUNNEL SYNDROME; CTS1 CTS;; AMYOTROPHY, THENAR, OF CARPAL ORIGIN Asterisk 115435 HYALURONAN AND PROTEOGLYCAN LINK PROTEIN 1; HAPLN1 CARTILAGE LINK PROTEIN; CRTL1 Asterisk 115437 MATRILIN 1; MATN1 CARTILAGE MATRIX PROTEIN; CRTM; CMP Asterisk 115440 CASEIN KINASE II, ALPHA-1; CSNK2A1 CASEIN KINASE II, ALPHA SUBUNIT; CK2A1 Asterisk 115441 CASEIN KINASE II, BETA; CSNK2B CASEIN KINASE II, BETA SUBUNIT; CK2B;; PHOSVITIN Asterisk 115442 CASEIN KINASE II, ALPHA-2; CSNK2A2 CASEIN KINASE II, ALPHA-PRIME SUBUNIT; CK2A2 Asterisk 115450 CASEIN, ALPHA; CSN1 CASA CASEIN, ALPHA-S1, INCLUDED Asterisk 115460 CASEIN, BETA; CSN2 CASB Number Sign 115470 CAT EYE SYNDROME; CES SCHMID-FRACCARO SYNDROME;; CHROMOSOME 22 PARTIAL TETRASOMY;; INV DUP(22)(q11) Asterisk 115500 CATALASE; CAT Asterisk 115501 TYROSINASE-RELATED PROTEIN 1; TYRP1 TYRP; TRP;; CATALASE B; CATB; CAS2;; GLYCOPROTEIN 75; GP75;; b-PROTEIN NULL 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION Percent 115650 CATARACT 32, MULTIPLE TYPES; CTRCT32 CATARACT, ANTERIOR POLAR, 1; CTAA1;; CATARACT, ANTERIOR POLAR; CAP;; CATARACT, POSTERIOR POLAR, 5; CTPP5 Percent 115660 CATARACT 7; CTRCT7 CATARACT 7, CERULEAN TYPE;; CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1 Percent 115665 CATARACT 8, MULTIPLE TYPES; CTRCT8 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV Number Sign 115700 CATARACT 4, MULTIPLE TYPES; CTRCT4 CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CRYSTALLINE ACULEIFORM; CACA;; CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3;; CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL; PCC;; CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET Percent 115800 CATARACT 29; CTRCT29 CATARACT 29, CORALLIFORM Number Sign 115900 CATARACT 42; CTRCT42 Number Sign 116100 CATARACT 20, MULTIPLE TYPES; CTRCT20 Caret 116150 MOVED TO 116200 AND 107250 Number Sign 116200 CATARACT 1, MULTIPLE TYPES; CTRCT1 CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, DUFFY-LINKED;; CATARACT, ZONULAR PULVERULENT, 1; CZP1; CZP; CAE1 Number Sign 116300 CATARACT 30, MULTIPLE TYPES; CTRCT30 Number Sign 116400 CATARACT 41; CTRCT41 CATARACT 41, CONGENITAL NUCLEAR TYPE Number Sign 116600 CATARACT 6, MULTIPLE TYPES; CTRCT6 CATARACT, POSTERIOR POLAR, 1; CTPP1;; CATARACT, AGE-RELATED CORTICAL, 2; ARCC2 Number Sign 116700 CATARACT 13 WITH ADULT i PHENOTYPE; CTRCT13 Plus 116790 CATECHOL-O-METHYLTRANSFERASE; COMT CATECHOL-O-METHYLTRANSFERASE ACTIVITY, LOW, IN RED CELLS, INCLUDED Number Sign 116800 CATARACT 5, MULTIPLE TYPES; CTRCT5 CATARACT, LAMELLAR;; CATARACT, MARNER TYPE; CAM; CTM Asterisk 116805 CATENIN, ALPHA-1; CTNNA1 ALPHA-E-CATENIN;; CADHERIN-ASSOCIATED PROTEIN Asterisk 116806 CATENIN, BETA-1; CTNNB1 CADHERIN-ASSOCIATED PROTEIN, BETA; CTNNB Asterisk 116810 CATHEPSIN B; CTSB CATB;; AMYLOID PRECURSOR PROTEIN SECRETASE;; APP SECRETASE; APPS REGULATORY ELEMENT, CIS-ACTING, ENHANCER, UPSTREAM OF CTSB, INCLUDED Asterisk 116820 CATHEPSIN H; CTSH Asterisk 116830 CATHEPSIN G; CTSG CATG Asterisk 116831 GRANZYME H; GZMH CATHEPSIN G-LIKE 2; CTSGL2;; CGL2 Asterisk 116840 CATHEPSIN D; CTSD Asterisk 116845 CATHEPSIN S; CTSS NULL 116850 CATATRICHY FORELOCK Number Sign 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM CAVERNOUS ANGIOMA, FAMILIAL;; CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;; CEREBRAL CAPILLARY MALFORMATIONS CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;; CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;; HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED NULL 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM Asterisk 116880 CATHEPSIN L; CTSL MAJOR EXCRETED PROTEIN; MEP;; CATL Asterisk 116890 CATHEPSIN E; CTSE CATE Asterisk 116896 CUT-LIKE HOMEOBOX 1; CUX1 CUT, DROSOPHILA, HOMOLOG OF, 1;; CUT-LIKE 1; CUTL1;; CCAAT DISPLACEMENT PROTEIN; CDP; CDP1;; CUX; CUX1 CDP/CUT ALTERNATIVELY SPLICED PRODUCT, INCLUDED; CASP, INCLUDED;; HUMAN ACCELERATED REGION 426, INCLUDED; HAR426, INCLUDED Asterisk 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA C/EBP-ALPHA;; CEBP Asterisk 116898 CCAAT/ENHANCER-BINDING PROTEIN, DELTA; CEBPD C/EBP-DELTA;; CRP3 Asterisk 116899 CYCLIN-DEPENDENT KINASE INHIBITOR 1A; CDKN1A CDKN1;; CDK-INTERACTING PROTEIN 1; CIP1;; WILDTYPE p53-ACTIVATED FRAGMENT 1; WAF1;; p21 Asterisk 116900 CDC28 PROTEIN KINASE 1B; CKS1B CDC2-ASSOCIATED PROTEIN CKS1; CKS1 Asterisk 116901 CDC2-ASSOCIATED PROTEIN CKS2; CKS2 Number Sign 116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD LAD1;; LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN 1 IMMUNODEFICIENCY;; LFA1 IMMUNODEFICIENCY Asterisk 116930 CELL ADHESION MOLECULE, NEURAL, 1; NCAM1 CD56;; ANTIGEN MSK39 IDENTIFIED BY MONOCLONAL ANTIBODY 5.1H11; MSK39 Caret 116935 MOVED TO 602783 Asterisk 116940 CYCLIN-DEPENDENT KINASE 1; CDK1 CELL DIVISION CYCLE 2, G1 TO S AND G2 TO M; CDC2;; CELL CYCLE CONTROLLER CDC2;; p34(CDC2) Asterisk 116945 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 2; MCM2 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 2;; MITOTIN;; CELL DIVISION CYCLE-LIKE 1; CDCL1;; NUCLEAR PROTEIN BM28; BM28 Asterisk 116946 CELL DIVISION CYCLE 27; CDC27 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 3; APC3 Asterisk 116947 CELL DIVISION CYCLE 25A; CDC25A Asterisk 116948 CELL DIVISION CYCLE 34, S. CEREVISIAE, HOMOLOG OF; CDC34 UBIQUITIN-CONJUGATING ENZYME CDC34;; UBC3; UBCH3;; UBIQUITIN-CONJUGATING ENZYME E2R 1; UBE2R1 Asterisk 116949 CELL DIVISION CYCLE 25B; CDC25B NULL 116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T CELL CYCLE CONTROLLER, G1 Asterisk 116951 CYCLIN-DEPENDENT KINASE 11A; CDK11A CELL DIVISION CYCLE 2-LIKE 2; CDC2L2;; PITSLRE A Asterisk 116952 CELL DIVISION CYCLE 42; CDC42 GTP-BINDING PROTEIN, 25-KD; G25K Asterisk 116953 CYCLIN-DEPENDENT KINASE 2; CDK2 CELL DIVISION KINASE 2;; p33(CDK2) Caret 116954 MOVED TO 120920 Asterisk 116955 CCHC-TYPE ZINC FINGER NUCLEIC ACID-BINDING PROTEIN; CNBP ZINC FINGER PROTEIN 9; ZNF9;; CELLULAR RETROVIRAL NUCLEIC ACID-BINDING PROTEIN 1; CNBP1 Asterisk 116957 RETINOBLASTOMA-LIKE 1; RBL1 CELLULAR PROTEIN p107; CP107; p107 Asterisk 116960 MORTALITY FACTOR 4; MORF4 SENESCENCE-RELATED, CELLULAR, 1; SEN1;; CELLULAR SENESCENCE 1;; CELL SENESCENCE-RELATED GENE, COMPLEMENTATION GROUP B; CSR Number Sign 117000 CENTRAL CORE DISEASE OF MUSCLE; CCD CCO MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;; MULTICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;; MULTIMINICORE DISEASE, MODERATE, WITH HAND INVOLVEMENT, INCLUDED;; NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED; CNMDU1, INCLUDED Percent 117100 CENTRALOPATHIC EPILEPSY CENTROTEMPORAL EPILEPSY; ECT;; TEMPORAL-CENTRAL FOCAL EPILEPSY;; BENIGN ROLANDIC EPILEPSY;; BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES; BECTS Asterisk 117139 CENTROMERIC PROTEIN A; CENPA Asterisk 117140 CENTROMERIC PROTEIN B; CENPB Asterisk 117141 CENTROMERIC PROTEIN C1; CENPC1 CENTROMERIC PROTEIN C1 PSEUDOGENE, INCLUDED; CENPC2, INCLUDED Asterisk 117142 CENTROMERIC PROTEIN D; CENPD Asterisk 117143 CENTROMERIC PROTEIN E; CENPE KINESIN FAMILY MEMBER 10; KIF10 Caret 117200 REMOVED FROM DATABASE Number Sign 117210 SPINOCEREBELLAR ATAXIA 31; SCA31 SPINOCEREBELLAR ATAXIA, 16q22-LINKED Number Sign 117300 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2 DEMENTIA, FAMILIAL DANISH; FDD;; FAMILIAL DANISH DEMENTIA;; CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS;; HEREDOPATHIA OPHTHALMOOTOENCEPHALICA; HOOE Asterisk 117340 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 2; CDR2 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN, 62-KD; CDR62 Caret 117350 MOVED TO 183090 Number Sign 117360 SPINOCEREBELLAR ATAXIA 29; SCA29 CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT; CNPCA;; CEREBELLAR VERMIS APLASIA;; APLASIA OF CEREBELLAR VERMIS; ACV Caret 117400 MOVED TO 164400 AND 117210 Number Sign 117550 SOTOS SYNDROME 1; SOTOS1 SOTOS SYNDROME;; CEREBRAL GIGANTISM;; CHROMOSOME 5q35 DELETION SYNDROME NULL 117600 CEREBRAL SARCOMA Number Sign 117650 CEREBROCOSTOMANDIBULAR SYNDROME; CCMS RIB GAP DEFECTS WITH MICROGNATHIA Asterisk 117700 CERULOPLASMIN; CP FERROXIDASE Number Sign 117800 APOCRINE GLAND SECRETION, VARIATION IN EAR WAX, WET/DRY; EWWD;; WET WAX; WW;; CERUMEN, VARIATION IN;; AXILLARY ODOR, VARIATION IN;; COLOSTRUM SECRETION, VARIATION IN NULL 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS HYPERTRICHOSIS, POSTERIOR CERVICAL, WITH UNDERLYING KYPHOSCOLIOSIS NULL 117900 CERVICAL RIB NULL 118000 CERVICAL VERTEBRAL BRIDGE NULL 118005 CERVICAL VERTEBRAL DYSPLASIA Number Sign 118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 KFS;; CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT Caret 118150 MOVED TO 107776 Asterisk 118190 HEAT-SHOCK 60-KD PROTEIN 1; HSPD1 HSP60;; CHAPERONIN, 60-KD; CPN60;; GroEL, E. COLI, HOMOLOG OF Number Sign 118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B HEREDITARY MOTOR AND SENSORY NEUROPATHY I; HMSN I;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IB; HMSN IB;; HMSN1;; HMSN1B;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B;; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY;; PERONEAL MUSCULAR ATROPHY;; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B Number Sign 118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1;; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1;; HMSN IIA1;; HMSN2A1 Number Sign 118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; HMSN IA;; HMSN1A;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A;; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A NULL 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE Number Sign 118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT;; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CMT1E NULL 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM NULL 118330 CHEILITIS GLANDULARIS NULL 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS Number Sign 118400 CHERUBISM CRBM Percent 118420 CHIARI MALFORMATION TYPE I CM1 CHIARI MALFORMATION TYPE I WITH SYRINGOMYELIA, INCLUDED;; CM1 WITH SYRINGOMYELIA, INCLUDED Asterisk 118423 CHIMERIN 1; CHN1 N-CHIMERIN; CHN;; CHIMERIN, ALPHA-1;; GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2;; RHO GTPase-ACTIVATING PROTEIN 2; RHOGAP2 CHIMERIN, ALPHA-2, INCLUDED Asterisk 118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1 CHLORIDE CHANNEL, MUSCLE; CLC1 NULL 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF Asterisk 118440 CHOLECYSTOKININ; CCK Asterisk 118444 CHOLECYSTOKININ A RECEPTOR; CCKAR Asterisk 118445 CHOLECYSTOKININ B RECEPTOR; CCKBR GASTRIN RECEPTOR; GASR Number Sign 118450 ALAGILLE SYNDROME 1; ALGS1 ALAGILLE SYNDROME; ALGS;; ALAGILLE-WATSON SYNDROME; AWS;; CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;; ARTERIOHEPATIC DYSPLASIA; AHD;; HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC Asterisk 118455 CYTOCHROME P450, SUBFAMILY VIIA, POLYPEPTIDE 1; CYP7A1 CYP7;; CHOLESTEROL 7-ALPHA-HYDROXYLASE;; CHOLESTEROL 7-ALPHA-MONOOXYGENASE Asterisk 118457 CHOLESTEROL CRYSTALLIZATION INHIBITOR; CCI Asterisk 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP LIPID TRANSFER PROTEIN I Caret 118480 MOVED TO 134634 Asterisk 118485 CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1; CYP11A1 CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME;; CYTOCHROME P450 SIDE-CHAIN CLEAVAGE ENZYME;; CYTOCHROME P450SCC;; CYTOCHROME P450C11A1;; CYP11A Asterisk 118490 CHOLINE ACETYLTRANSFERASE; CHAT Asterisk 118491 CHOLINE KINASE, ALPHA; CHKA CHK;; CKI, YEAST, HUMAN COMPLEMENT OF Asterisk 118493 CHOLINERGIC RECEPTOR, MUSCARINIC, 2; CHRM2 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 2 Asterisk 118494 CHOLINERGIC RECEPTOR, MUSCARINIC, 3; CHRM3 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 3 Asterisk 118495 CHOLINERGIC RECEPTOR, MUSCARINIC, 4; CHRM4 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 4 Asterisk 118496 CHOLINERGIC RECEPTOR, MUSCARINIC, 5; CHRM5 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 5 Asterisk 118502 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; CHRNA2 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT Asterisk 118503 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 3; CHRNA3 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-3 SUBUNIT Asterisk 118504 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT Asterisk 118505 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 5; CHRNA5 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-5 SUBUNIT Asterisk 118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-2 SUBUNIT Asterisk 118508 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 3; CHRNB3 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-3 SUBUNIT Asterisk 118509 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 4; CHRNB4 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, BETA-4 SUBUNIT Asterisk 118510 CHOLINERGIC RECEPTOR, MUSCARINIC, 1; CHRM1 ACETYLCHOLINE RECEPTOR, MUSCARINIC, 1 Asterisk 118511 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-7 SUBUNIT Number Sign 118600 CHONDROCALCINOSIS 2; CCAL2 CHONDROCALCINOSIS, FAMILIAL ARTICULAR;; CALCIUM GOUT;; CALCIUM PYROPHOSPHATE ARTHROPATHY;; CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE; CPPDD NULL 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION FAMILIAL APATITE DISEASE NULL 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED;; CHONDRODYSPLASIA PUNCTATA DUE TO WARFARIN TERATOGENICITY, INCLUDED Percent 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE CHONDRODYSPLASIA PUNCTATA, MT TYPE Asterisk 118661 VERSICAN; VCAN CHONDROITIN SULFATE PROTEOGLYCAN 2; CSPG2;; CHONDROITIN SULFATE PROTEOGLYCAN CORE PROTEIN, CARTILAGE NULL 118670 CHONDRONECTIN Number Sign 118700 CHOREA, BENIGN HEREDITARY; BHC BCH;; HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA NULL 118750 CHOREOATHETOSIS, FAMILIAL INVERTED INFANTILE CHOREOATHETOSIS OF FISHER Number Sign 118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 PAROXYSMAL DYSTONIC CHOREOATHETOSIS; PDC;; CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1;; MOUNT-REBACK SYNDROME;; CHOREOATHETOSIS, NONKINESIGENIC;; DYSTONIA 8; DYT8 Asterisk 118820 CHORIONIC SOMATOMAMMOTROPIN HORMONE 2; CSH2 CHORIONIC SOMATOMAMMOTROPIN B; CSB Asterisk 118825 CHM-LIKE; CHML RAB ESCORT PROTEIN 2; REP2 Percent 118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE HYPERLIPOPROTEINEMIA, TYPE IC Percent 118840 CHROMATE RESISTANCE; CHR Asterisk 118850 CHORIONIC GONADOTROPIN, ALPHA CHAIN; CGA GLYCOPROTEIN HORMONES, ALPHA CHAIN;; FOLLICLE-STIMULATING HORMONE, ALPHA CHAIN; FSHA;; LUTEINIZING HORMONE, ALPHA CHAIN; LHA;; THYROID-STIMULATING HORMONE, ALPHA CHAIN; TSHA;; THYROTROPIN, ALPHA CHAIN Asterisk 118860 CHORIONIC GONADOTROPIN, BETA CHAIN; CGB CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 3; CGB3 NULL 118865 CHOROIDAL OSTEOMA, BILATERAL Asterisk 118870 CHROMOSOMAL PROTEIN, NONHISTONE 1; NHCP1 Asterisk 118880 CHROMOSOMAL PROTEIN, NONHISTONE 2; NHCP2 Asterisk 118888 CHYMOTRYPSIN-LIKE PROTEASE; CTRL CTRL1 Asterisk 118890 CHYMOTRYPSINOGEN B1; CTRB1 CHYMOTRYPSINOGEN B; CTRB;; CHYMOTRYPSINOGEN A;; ALPHA-CHYMOTRYPSINOGEN NULL 118900 CIRRHOSIS, FAMILIAL Asterisk 118910 CHROMOGRANIN A; CHGA CGA;; SECRETORY PROTEIN I PARATHYROID SECRETORY PROTEIN, INCLUDED; PSP, INCLUDED;; PANCREASTATIN, INCLUDED;; CHROMOSTATIN, INCLUDED;; CATESTATIN, INCLUDED Asterisk 118920 CHROMOGRANIN B; CHGB SECRETOGRANIN I; SCG1 Asterisk 118930 SECRETOGRANIN II; SCG2 CHROMOGRANIN C; CHGC SECRETONEURIN, INCLUDED; SN, INCLUDED Asterisk 118938 CHYMASE 1; CMA1 CHYMASE, MAST CELL;; CHYMASE, HEART; CYH Caret 118940 MOVED TO 118938 NULL 118943 CHYMOSIN PSEUDOGENE; CYMP PROCHYMOSIN, INCLUDED Asterisk 118945 CILIARY NEUROTROPHIC FACTOR; CNTF Asterisk 118946 CILIARY NEUROTROPHIC FACTOR RECEPTOR; CNTFR CNTFR-ALPHA Asterisk 118950 CITRATE SYNTHASE, MITOCHONDRIAL; CS Caret 118953 MOVED TO 192020 Asterisk 118955 CLATHRIN, HEAVY POLYPEPTIDE; CLTC CLATHRIN HEAVY CHAIN; CHC CLTC/TFE3 FUSION GENE, INCLUDED;; CLTC/ALK FUSION GENE, INCLUDED Asterisk 118960 CLATHRIN, LIGHT POLYPEPTIDE A; CLTA LCA Asterisk 118970 CLATHRIN, LIGHT POLYPEPTIDE B; CLTB LCB NULL 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL Asterisk 118990 SPERM-SPECIFIC ANTIGEN 2; SSFA2 CLEAVAGE SIGNAL 1; CS1;; KRAS-INDUCED ACTIN-INTERACTING PROTEIN; KRAP Percent 119000 CLEFT CHIN CHIN DIMPLE Percent 119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY; SHFLD;; CLEFT HAND AND ABSENT TIBIA;; APLASIA OF TIBIA WITH ECTRODACTYLY;; TIBIAL APLASIA WITH SPLIT-HAND/SPLIT-FOOT DEFORMITY;; ECTRODACTYLY WITH APLASIA OF LONG BONES Number Sign 119300 VAN DER WOUDE SYNDROME 1; VWS1 VDWS;; LIP-PIT SYNDROME; LPS; PIT;; CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP Number Sign 119500 POPLITEAL PTERYGIUM SYNDROME; PPS CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES;; FACIOGENITOPOPLITEAL SYNDROME Percent 119530 OROFACIAL CLEFT 1; OFC1 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1;; OROFACIAL CLEFT, NONSYNDROMIC; OFC;; CLEFT LIP/PALATE, NONSYNDROMIC Percent 119540 CLEFT PALATE, ISOLATED; CPI CLEFT PALATE; CP Percent 119550 SYNGNATHIA CLEFT PALATE-LATERAL SYNECHIA SYNDROME;; CPLS SYNDROME NULL 119570 CLEFT SOFT PALATE Number Sign 119580 BLEPHAROCHEILODONTIC SYNDROME 1; BCDS1 BLEPHAROCHEILODONTIC SYNDROME; BCDS;; BCD SYNDROME;; CLEFTING, ECTROPION, AND CONICAL TEETH;; ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE;; ELSCHNIG SYNDROME;; LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE Number Sign 119600 CLEIDOCRANIAL DYSPLASIA; CCD CLEIDOCRANIAL DYSOSTOSIS; CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;; CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED NULL 119650 CLEIDORHIZOMELIC SYNDROME Number Sign 119800 CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF Number Sign 119900 DIGITAL CLUBBING, ISOLATED CONGENITAL CLUBBING OF DIGITS;; ACROPACHY, HEREDITARY Percent 119915 CLUSTER HEADACHE, FAMILIAL NULL 120000 COARCTATION OF AORTA NULL 120040 COCHLEOSACCULAR DEGENERATION WITH PROGRESSIVE CATARACTS Percent 120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S CB3S Asterisk 120070 COLLAGEN, TYPE IV, ALPHA-3; COL4A3 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-3 CHAIN TUMSTATIN, INCLUDED;; GOODPASTURE ANTIGEN, INCLUDED Number Sign 120080 COLCHICINE RESISTANCE COLCHICINE SENSITIVITY; CLCS Asterisk 120090 COLLAGEN, TYPE IV, ALPHA-2; COL4A2 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-2 CHAIN Number Sign 120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 FCAS;; COLD HYPERSENSITIVITY;; COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL;; COLD URTICARIA, FAMILIAL; FCU;; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1; CAPS1 Asterisk 120105 COLIPASE, PANCREATIC; CLPS Asterisk 120110 COLLAGEN, TYPE X, ALPHA-1; COL10A1 Asterisk 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1 LONG-CHAIN COLLAGEN;; LC COLLAGEN Asterisk 120130 COLLAGEN, TYPE IV, ALPHA-1; COL4A1 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-1 CHAIN ARRESTEN, INCLUDED Asterisk 120131 COLLAGEN, TYPE IV, ALPHA-4; COL4A4 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-4 CHAIN Plus 120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 COLLAGEN, TYPE II;; COLLAGEN OF CARTILAGE CHONDROCALCIN, INCLUDED;; VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA, INCLUDED Plus 120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1 COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-1 CHAIN COL1A1/PDGFB FUSION GENE, INCLUDED;; OI/EDS COMBINED SYNDROME, INCLUDED Asterisk 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2 COLLAGEN OF SKIN, TENDON, AND BONE, ALPHA-2 CHAIN Asterisk 120165 COLLAGEN, TYPE XIX, ALPHA-1; COL19A1 COLLAGEN, TYPE IX-LIKE; COL9A1L Caret 120170 MOVED TO 120190 Asterisk 120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 COLLAGEN, FETAL;; COLLAGEN, BLOOD VESSEL Asterisk 120190 COLLAGEN, TYPE V, ALPHA-2; COL5A2 AB COLLAGEN Number Sign 120200 COLOBOMA, OCULAR, AUTOSOMAL DOMINANT COLOBOMA, UVEORETINAL;; COLOBOMA OF IRIS, CHOROID, AND RETINA; COI Asterisk 120210 COLLAGEN, TYPE IX, ALPHA-1; COL9A1 COLLAGEN, CARTILAGE-SPECIFIC SHORT;; ALPHA-1(IX) COLLAGEN CHAIN;; CARTILAGE-SPECIFIC SHORT COLLAGEN Asterisk 120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 Asterisk 120216 COLLAGEN, TYPE V, ALPHA-3; COL5A3 Asterisk 120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1 COLLAGEN, INTIMAL;; SHORT-CHAIN COLLAGEN Asterisk 120240 COLLAGEN, TYPE VI, ALPHA-2; COL6A2 Asterisk 120250 COLLAGEN, TYPE VI, ALPHA-3; COL6A3 Asterisk 120251 COLLAGEN, TYPE VIII, ALPHA-1; COL8A1 Asterisk 120252 COLLAGEN, TYPE VIII, ALPHA-2; COL8A2 Asterisk 120260 COLLAGEN, TYPE IX, ALPHA-2; COL9A2 Asterisk 120270 COLLAGEN, TYPE IX, ALPHA-3; COL9A3 Asterisk 120280 COLLAGEN, TYPE XI, ALPHA-1; COL11A1 Asterisk 120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2 Percent 120300 COLOBOMA OF MACULA AGENESIS OF MACULA Caret 120310 MOVED TO 120140 Asterisk 120320 COLLAGEN, TYPE XII, ALPHA-1; COL12A1 Caret 120321 MOVED TO 120320 Asterisk 120324 COLLAGEN, TYPE XIV, ALPHA-1; COL14A1 UNDULIN; UND Asterisk 120325 COLLAGEN, TYPE XV, ALPHA-1; COL15A1 Asterisk 120326 COLLAGEN, TYPE XVI, ALPHA-1; COL16A1 Caret 120327 MOVED TO 113811 Asterisk 120328 COLLAGEN, TYPE XVIII, ALPHA-1; COL18A1 ENDOSTATIN, INCLUDED Number Sign 120330 PAPILLORENAL SYNDROME; PAPRS RENAL-COLOBOMA SYNDROME;; OPTIC NERVE COLOBOMA WITH RENAL DISEASE;; COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE;; OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES;; RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES;; CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES;; CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES Asterisk 120340 COLLAGEN, TYPE I, ALPHA, RECEPTOR; COL1AR COLLAGEN RECEPTOR; COLR Asterisk 120350 COLLAGEN, TYPE XIII, ALPHA-1; COL13A1 Asterisk 120353 MATRIX METALLOPROTEINASE 1; MMP1 COLLAGENASE, FIBROBLAST; CLG; CLGN;; COLLAGENASE, INTERSTITIAL Asterisk 120355 MATRIX METALLOPROTEINASE 8; MMP8 COLLAGENASE I, NEUTROPHIL; CLG1 Asterisk 120360 MATRIX METALLOPROTEINASE 2; MMP2 COLLAGENASE TYPE IV-A; CLG4A;; COLLAGENASE TYPE IV, 72-KD;; GELATINASE, 72-KD;; GELATINASE A;; GELATINASE, NEUTROPHIL Asterisk 120361 MATRIX METALLOPROTEINASE 9; MMP9 COLLAGENASE TYPE IV-B; CLG4B;; COLLAGENASE TYPE IV, 92-KD;; COLLAGENASE TYPE V;; GELATINASE, 92-KD;; GELATINASE B; GELB NULL 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY APICAL DYSTROPHY;; SORSBY SYNDROME Asterisk 120420 COLONY-STIMULATING FACTOR 1; CSF1 COLONY-STIMULATING FACTOR, MACROPHAGE-SPECIFIC; MCSF Number Sign 120430 COLOBOMA OF OPTIC NERVE OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED;; MORNING GLORY DISC ANOMALY, INCLUDED Number Sign 120433 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION; COB1 Number Sign 120435 LYNCH SYNDROME I COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; HNPCC1;; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; FCC1;; COCA1 LYNCH SYNDROME II, INCLUDED Asterisk 120436 MutL, E. COLI, HOMOLOG OF, 1; MLH1 NULL 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION Percent 120450 COMEDONES, FAMILIAL DYSKERATOTIC Caret 120460 MOVED TO 191170 Asterisk 120470 DCC NETRIN 1 RECEPTOR; DCC NETRIN RECEPTOR DCC;; DELETED IN COLORECTAL CARCINOMA;; COLORECTAL CANCER-RELATED CHROMOSOME SEQUENCE 18; CRC18;; CRCR1 NULL 120500 COMMISSURAL LIP PITS Percent 120502 BRANCHIOOTIC SYNDROME 2 BO SYNDROME 2; BOS2 Asterisk 120520 MEMBRANE METALLOENDOPEPTIDASE; MME COMMON ACUTE LYMPHOCYTIC LEUKEMIA ANTIGEN; CALLA;; CD10;; NEPRILYSIN;; NEUTRAL ENDOPEPTIDASE, MEMBRANE-ASSOCIATED; NEP;; ENKEPHALINASE;; ATRIOPEPTIDASE Asterisk 120550 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, A CHAIN; C1QA COMPLEMENT COMPONENT 1, q SUBCOMPONENT, ALPHA POLYPEPTIDE;; COMPLEMENT COMPONENT C1q, A CHAIN;; SERUM C1q Asterisk 120560 COMPLEMENT COMPONENT C1q, FIBROBLAST TYPE Asterisk 120570 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, B CHAIN; C1QB COMPLEMENT COMPONENT 1, q SUBCOMPONENT, BETA POLYPEPTIDE;; COMPLEMENT COMPONENT C1q, B CHAIN Asterisk 120575 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, C CHAIN; C1QC COMPLEMENT COMPONENT C1q, C CHAIN;; COMPLEMENT COMPONENT 1, q SUBCOMPONENT, GAMMA POLYPEPTIDE; C1QG Asterisk 120577 COMPLEMENT COMPONENT 1, q SUBCOMPONENT, RECEPTOR 1; C1QR1 CD93 ANTIGEN; CD93;; COMPLEMENT COMPONENT 1q RECEPTOR; C1QR;; COLLECTIN RECEPTOR Asterisk 120580 COMPLEMENT COMPONENT 1, s SUBCOMPONENT; C1S COMPLEMENT COMPONENT C1s Asterisk 120620 COMPLEMENT COMPONENT RECEPTOR 1; CR1 COMPLEMENT COMPONENT 3b/4b RECEPTOR;; C3-BINDING PROTEIN;; C3BR;; C4BR;; CD35 Asterisk 120650 COMPLEMENT COMPONENT RECEPTOR 2; CR2 COMPLEMENT COMPONENT 3d RECEPTOR; C3DR;; EPSTEIN-BARR VIRUS RECEPTOR;; EBV RECEPTOR;; CD21 Asterisk 120700 COMPLEMENT COMPONENT 3; C3 C3a, INCLUDED;; C3b, INCLUDED;; C3c, INCLUDED;; C3d, INCLUDED;; ACYLATION-STIMULATING PROTEIN, INCLUDED; ASP, INCLUDED Number Sign 120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF Asterisk 120810 COMPLEMENT COMPONENT 4A; C4A COMPLEMENT COMPONENT 4S; C4S;; ACIDIC C4;; C4, RODGERS FORM;; SLP, MOUSE, HOMOLOG OF; SLP Asterisk 120820 COMPLEMENT COMPONENT 4B; C4B COMPLEMENT COMPONENT 4F; C4F;; BASIC C4;; C4, CHIDO FORM Asterisk 120830 COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA; C4BPA C4b RECEPTOR; C4BP COMPLEMENT COMPONENT 4-BINDING PROTEIN, ALPHA-LIKE 1, INCLUDED; C4BPAL1, INCLUDED Asterisk 120831 COMPLEMENT COMPONENT 4-BINDING PROTEIN, BETA CHAIN; C4BPB Caret 120832 MOVED TO 120830 Asterisk 120900 COMPLEMENT COMPONENT 5; C5 Asterisk 120920 CD46 ANTIGEN; CD46 TROPHOBLAST-LYMPHOCYTE CROSS-REACTIVE ANTIGEN; TLX;; MEMBRANE COFACTOR PROTEIN; MCP;; COMPLEMENT MEMBRANE COFACTOR PROTEIN;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY TRA-2-10; MIC10 Asterisk 120930 COMPLEMENT COMPONENT 8, GAMMA SUBUNIT; C8G C8C Asterisk 120940 COMPLEMENT COMPONENT 9; C9 Asterisk 120950 COMPLEMENT COMPONENT 8, ALPHA SUBUNIT; C8A C8 ALPHA Asterisk 120960 COMPLEMENT COMPONENT 8, BETA SUBUNIT; C8B COMPLEMENT COMPONENT C8B;; C8 BETA Number Sign 120970 CONE-ROD DYSTROPHY 2; CORD2 CONE-ROD DYSTROPHY; CORD;; CONE-ROD RETINAL DYSTROPHY; CRD; CRD2;; RETINAL CONE-ROD DYSTROPHY; RCRD2 Asterisk 120980 INTEGRIN, ALPHA-M; ITGAM COMPLEMENT RECEPTOR TYPE 3, ALPHA SUBUNIT; CR3A;; Mac1, ALPHA SUBUNIT; MAC1A;; Mo1, ALPHA SUBUNIT; MO1A;; CD11B Caret 121000 REMOVED FROM DATABASE Asterisk 121009 CONNECTIVE TISSUE GROWTH FACTOR; CTGF INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 8; IGFBP8;; CCN2 Asterisk 121010 PRO-PLATELET BASIC PROTEIN; PPBP CXC CHEMOKINE LIGAND 7; CXCL7;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 7; SCYB7 PLATELET BASIC PROTEIN, INCLUDED; PBP, INCLUDED;; CONNECTIVE TISSUE-ACTIVATING PEPTIDE III, INCLUDED; CTAP3, INCLUDED;; BETA-THROMBOGLOBULIN, INCLUDED; TGB, INCLUDED;; THROMBOGLOBULIN, BETA-1, INCLUDED; TGB1, INCLUDED;; NEUTROPHIL-ACTIVATING PEPTIDE 2, INCLUDED; NAP2, INCLUDED;; THROMBOCIDIN 1, INCLUDED; TC1, INCLUDED;; THROMBOCIDIN 2, INCLUDED; TC2, INCLUDED Asterisk 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2 GAP JUNCTION PROTEIN, 26-KD;; CONNEXIN 26; CX26 Asterisk 121012 GAP JUNCTION PROTEIN, ALPHA-4; GJA4 GAP JUNCTION PROTEIN, 37-KD;; CONNEXIN 37; CX37 Asterisk 121013 GAP JUNCTION PROTEIN, ALPHA-5; GJA5 GAP JUNCTION PROTEIN, 40-KD;; CONNEXIN 40; CX40 Asterisk 121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1 GAP JUNCTION PROTEIN, 43-KD;; CONNEXIN 43; CX43;; HEART CONNEXIN Asterisk 121015 GAP JUNCTION PROTEIN, ALPHA-3; GJA3 GAP JUNCTION PROTEIN, 46-KD;; CONNEXIN 46; CX46 Caret 121020 MOVED TO 160120 Number Sign 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9;; BEALS SYNDROME NULL 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E CONTRACTURES OF FINGERS AND JAW Number Sign 121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1 EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;; SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED Number Sign 121201 SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; BFNC2 Percent 121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1 CONVULSIONS, FAMILIAL FEBRILE, 1 Caret 121250 MOVED TO 300088 NULL 121270 COPPER DEFICIENCY, FAMILIAL BENIGN Number Sign 121300 COPROPORPHYRIA, HEREDITARY; HCP COPROPORPHYRINOGEN OXIDASE DEFICIENCY;; CPOX DEFICIENCY;; CPO DEFICIENCY;; CPX DEFICIENCY HARDEROPORPHYRIA, INCLUDED NULL 121350 CORACOCLAVICULAR JOINT, ANOMALOUS Asterisk 121360 CORE-BINDING FACTOR, BETA SUBUNIT; CBFB POLYOMAVIRUS ENHANCER-BINDING PROTEIN 2-BETA; PEBP2B CBFB/MYH11 FUSION GENE, INCLUDED Percent 121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS Percent 121400 CORNEA PLANA 1, AUTOSOMAL DOMINANT; CNA1 NULL 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS BAND KERATOPATHY WITH DEAFNESS Caret 121700 MOVED TO 122000 Number Sign 121800 SCHNYDER CORNEAL DYSTROPHY; SCCD CORNEAL DYSTROPHY, SCHNYDER;; SCHNYDER CRYSTALLINE CORNEAL DYSTROPHY;; CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER Number Sign 121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE; EBMD CORNEAL DYSTROPHY, ANTERIOR BASEMENT MEMBRANE;; COGAN CORNEAL DYSTROPHY;; CORNEAL DYSTROPHY, MAP-DOT-FINGERPRINT TYPE;; CORNEAL DYSTROPHY, MICROCYSTIC Number Sign 121850 CORNEAL DYSTROPHY, FLECK CFD;; FLECK CORNEAL DYSTROPHY; FCD;; CORNEAL DYSTROPHY, FRANCOIS-NEETENS SPECKLED OR FLECKED Number Sign 121900 CORNEAL DYSTROPHY, GROENOUW TYPE I; CDGG1 GRANULAR CORNEAL DYSTROPHY, TYPE I; GCD1;; CORNEAL DYSTROPHY, PUNCTATE OR NODULAR Number Sign 122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1 POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PPCD;; CORNEAL DYSTROPHY, HEREDITARY POLYMORPHOUS POSTERIOR;; MAUMENEE CORNEAL DYSTROPHY;; CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT, FORMERLY; CHED1, FORMERLY Number Sign 122100 CORNEAL DYSTROPHY, MEESMANN; MECD CORNEAL DYSTROPHY, MEESMANN EPITHELIAL;; MEESMANN CORNEAL DYSTROPHY;; CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN Number Sign 122200 CORNEAL DYSTROPHY, LATTICE TYPE I; LCD1 LCD;; LATTICE CORNEAL DYSTROPHY, TYPE I;; CDL1 Number Sign 122400 EPITHELIAL RECURRENT EROSION DYSTROPHY; ERED CORNEAL EROSIONS, RECURRING HEREDITARY NULL 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION RAMOS-ARROYO SYNDROME NULL 122440 CORNEODERMATOOSSEOUS SYNDROME CDO SYNDROME;; CORNEAL DYSTROPHY, EPITHELIAL, WITH SKIN AND SKELETAL CHANGES Percent 122450 CORNEAL HYPESTHESIA, FAMILIAL TRIGEMINAL ANESTHESIA, FAMILIAL NULL 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS Percent 122460 HUMAN CORONAVIRUS SENSITIVITY; HCVS CORONAVIRUS 229E SUSCEPTIBILITY; CVS Number Sign 122470 CORNELIA DE LANGE SYNDROME 1; CDLS1 CDL; CDLS;; TYPUS DEGENERATIVUS AMSTELODAMENSIS;; DE LANGE SYNDROME;; BRACHMANN-DE LANGE SYNDROME; BDLS Caret 122480 MOVED TO 166740 Asterisk 122500 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 6; SERPINA6 CORTICOSTEROID-BINDING GLOBULIN; CBG;; TRANSCORTIN NULL 122550 CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI Asterisk 122559 CORTICOTROPIN-RELEASING HORMONE-BINDING PROTEIN; CRHBP CORTICOTROPIN-RELEASING FACTOR-BINDING PROTEIN; CRFBP Asterisk 122560 CORTICOTROPIN-RELEASING HORMONE; CRH CORTICOTROPIN-RELEASING FACTOR; CRF Asterisk 122561 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 1; CRHR1 CORTICOTROPIN-RELEASING FACTOR RECEPTOR; CRFR1;; CORTICOTROPIN-RELEASING HORMONE RECEPTOR; CRHR NULL 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT Number Sign 122600 SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5 SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES;; TACS;; SPONDYLOCOSTAL DYSPLASIA;; SPONDYLOTHORACIC DYSOSTOSIS;; COSTOVERTEBRAL SEGMENTATION ANOMALIES Number Sign 122700 COUMARIN RESISTANCE COUMARIN, POOR METABOLISM OF;; WARFARIN RESISTANCE COUMARIN SENSITIVITY, INCLUDED;; WARFARIN SENSITIVITY, INCLUDED Plus 122720 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 6; CYP2A6 COUMARIN 7-HYDROXYLASE;; CYTOCHROME P450, PHENOBARBITAL-INDUCIBLE; P450PB;; CYP2A3, FORMERLY TEGAFUR, POOR METABOLISM OF, INCLUDED Percent 122750 COXA VARA NULL 122780 COXOAURICULAR SYNDROME NULL 122850 CRANIOACROFACIAL SYNDROME Number Sign 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD Number Sign 122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS NULL 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA OSTEOSCLEROSIS, STANESCU TYPE Caret 122920 MOVED TO 304110 Number Sign 123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD CMD;; CRANIOMETAPHYSEAL DYSPLASIA, JACKSON TYPE; CMDJ NULL 123050 CRANIORHINY Number Sign 123100 CRANIOSYNOSTOSIS 1; CRS1 CRS;; CRANIOSTENOSIS Asterisk 123101 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; MSX2 MSH, DROSOPHILA, HOMOLOG OF, 2 Number Sign 123150 JACKSON-WEISS SYNDROME; JWS CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES Percent 123155 HYDROCEPHALUS, AUTOSOMAL DOMINANT; HDCPH1 Asterisk 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP PENTRAXIN 1, SHORT; PTX1 NULL 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE Asterisk 123280 CREATINE KINASE, BRAIN TYPE; CKB BRAIN CREATINE KINASE; BCK Asterisk 123290 CREATINE KINASE, MITOCHONDRIAL 1B; CKMT1B CREATINE KINASE, UBIQUITOUS MITOCHONDRIAL; UMTCK;; MTCK, UBIQUITOUS;; MTCK, PLACENTAL;; CREATINE KINASE, MITOCHONDRIAL 1, CENTROMERIC COPY;; CKMT1, CENTROMERIC COPY;; CREATINE KINASE, MITOCHONDRIAL 1, FORMERLY; CKMT1, FORMERLY Asterisk 123295 CREATINE KINASE, MITOCHONDRIAL 2; CKMT2 CREATINE KINASE, SARCOMERIC MITOCHONDRIAL; CKMTS Asterisk 123310 CREATINE KINASE, MUSCLE TYPE; CKM CKMM Number Sign 123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM CPK, ELEVATED SERUM;; HYPERCKEMIA, IDIOPATHIC Number Sign 123400 CREUTZFELDT-JAKOB DISEASE; CJD CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED;; CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED; vCJD, INCLUDED;; CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT, INCLUDED Number Sign 123450 CRI-DU-CHAT SYNDROME CAT CRY SYNDROME;; CHROMOSOME 5p DELETION SYNDROME Number Sign 123500 CROUZON SYNDROME CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1;; CROUZON CRANIOFACIAL DYSOSTOSIS NULL 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY Percent 123550 CRYOGLOBULINEMIA, FAMILIAL MIXED MELTZER SYNDROME Caret 123555 MOVED TO 125220 NULL 123557 CRYPTOTIA, FAMILIAL NULL 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME Number Sign 123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED; CRYPTOP ANKYLOBLEPHARON, SIMPLE;; CRYPTOPHTHALMOS WITH MICROPHTHALMIA AND PETERS ANOMALY Asterisk 123580 CRYSTALLIN, ALPHA-A; CRYAA CRYSTALLIN, ALPHA-1; CRYA1;; HEAT-SHOCK PROTEIN BETA-4; HSPB4 Asterisk 123590 CRYSTALLIN, ALPHA-B; CRYAB CRYSTALLIN, ALPHA-2; CRYA2;; HEAT-SHOCK PROTEIN BETA-5; HSPB5 Asterisk 123610 CRYSTALLIN, BETA-A1; CRYBA1 CRYSTALLIN, BETA-1; CRYB1;; CRYSTALLIN, BETA-A1/A3 Asterisk 123620 CRYSTALLIN, BETA-B2; CRYBB2 CRYSTALLIN, BETA-2; CRYB2 CRYBB2P1, INCLUDED Asterisk 123630 CRYSTALLIN, BETA-B3; CRYBB3 CRYSTALLIN, BETA-3; CRYB3 Asterisk 123631 CRYSTALLIN, BETA-A4; CRYBA4 Asterisk 123660 CRYSTALLIN, GAMMA-A; CRYGA CRYSTALLIN, GAMMA-1; CRYG1 CRYSTALLIN, GAMMA-E PSEUDOGENE 1, INCLUDED; CRYGEP1, INCLUDED;; CRYG5, INCLUDED Asterisk 123670 CRYSTALLIN, GAMMA-B; CRYGB CRYSTALLIN, GAMMA-2; CRYG2 Asterisk 123680 CRYSTALLIN, GAMMA-C; CRYGC CRYSTALLIN, GAMMA-3; CRYG3 Asterisk 123690 CRYSTALLIN, GAMMA-D; CRYGD CRYSTALLIN, GAMMA-4; CRYG4 Asterisk 123691 CRYSTALLIN, ZETA; CRYZ QUINONE OXIDOREDUCTASE Asterisk 123695 PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, ALPHA ISOFORM; PCYT1A PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE; PCYT1;; CYTIDYLYLTRANSFERASE, CTP-PHOSPHOCHOLINE; CTPCT;; CHOLINE-PHOSPHATE CYTIDYLYLTRANSFERASE;; CCT-ALPHA Number Sign 123700 CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 Caret 123710 MOVED TO 123660 Caret 123720 MOVED TO 123660 Asterisk 123730 CRYSTALLIN, GAMMA-S; CRYGS CRYSTALLIN, GAMMA-8; CRYG8 Asterisk 123740 CRYSTALLIN, MU; CRYM Number Sign 123790 BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS BEARE-STEVENSON SYNDROME;; CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON Asterisk 123803 ACTIVATING TRANSCRIPTION FACTOR 1; ATF1 cAMP-DEPENDENT TRANSCRIPTION FACTOR 1 ATF1/EWS FUSION GENE, INCLUDED;; ATF1/FUS FUSION GENE, INCLUDED Asterisk 123805 PHOSPHODIESTERASE 3A, cGMP-INHIBITED; PDE3A cAMP PHOSPHODIESTERASE, MYOCARDIAL cGMP-INHIBITED Asterisk 123810 cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1 CREB CREB/EWS FUSION GENE, INCLUDED Asterisk 123811 ACTIVATING TRANSCRIPTION FACTOR 2; ATF2 CREBP1;; cAMP RESPONSE ELEMENT-BINDING PROTEIN 2, FORMERLY; CREB2, FORMERLY Asterisk 123812 cAMP RESPONSE ELEMENT MODULATOR; CREM INDUCIBLE cAMP EARLY REPRESSOR, INCLUDED; ICER, INCLUDED Asterisk 123825 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1 CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 1; CNCG1;; CNCG;; RETINAL ROD cGMP-GATED CHANNEL, ALPHA SUBUNIT Asterisk 123828 CYCLIN-DEPENDENT KINASE 3; CDK3 CELL DIVISION KINASE 3 Asterisk 123829 CYCLIN-DEPENDENT KINASE 4; CDK4 CELL DIVISION KINASE 4;; PSK-J3 Asterisk 123830 CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP CNP1;; 2-PRIME,3-PRIME CYCLIC NUCLEOTIDE 3-PRIME PHOSPHOHYDROLASE Asterisk 123831 CYCLIN-DEPENDENT KINASE 5; CDK5 CELL DIVISION KINASE 5;; PSSALRE Asterisk 123832 CYCLIN-DEPENDENT KINASE INHIBITOR 3; CDKN3 CYCLIN-DEPENDENT KINASE INTERACTOR 1; CDI1 Asterisk 123833 CYCLIN D2; CCND2 Asterisk 123834 CYCLIN D3; CCND3 Asterisk 123835 CYCLIN A2; CCNA2 CYCLIN A; CCNA Asterisk 123836 CYCLIN B1; CCNB1 CYCLIN B; CCNB Asterisk 123837 CYCLIN E1; CCNE1 CYCLIN E; CCNE Asterisk 123838 CYCLIN C; CCNC Caret 123839 MOVED TO 600262 Asterisk 123840 PEPTIDYL-PROLYL ISOMERASE A; PPIA CYCLOPHILIN A; CYPA;; CYPH Asterisk 123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB CYCLOPHILIN B; CYPB Asterisk 123842 PEPTIDYL-PROLYL ISOMERASE C; PPIC CYCLOPHILIN C; CYPC Caret 123850 MOVED TO 132700 NULL 123853 CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME Asterisk 123855 CYSTATIN 1; CST1 CYSTATIN SN Asterisk 123856 CYSTATIN 2; CST2 CYSTATIN SA Asterisk 123857 CYSTATIN 4; CST4 CYSTATIN S Asterisk 123858 CYSTATIN 5; CST5 CYSTATIN D Asterisk 123859 CYSTEINYL-tRNA SYNTHETASE; CARS CYSRS CARS/ALK FUSION GENE, INCLUDED Asterisk 123860 CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 1; CTPS1 CTPS;; CTP SYNTHETASE;; CTP SYNTHASE Asterisk 123864 CYTOCHROME c OXIDASE, SUBUNIT 4I1; COX4I1 CYTOCHROME c OXIDASE, SUBUNIT IV, ISOFORM 1;; CYTOCHROME c OXIDASE, SUBUNIT IV; COX4 Asterisk 123866 CYTOCHROME c OXIDASE, SUBUNIT 5B; COX5B CYTOCHROME c OXIDASE, SUBUNIT Vb Asterisk 123870 CYTOCHROME c OXIDASE, SUBUNIT 8A; COX8A CYTOCHROME c OXIDASE, SUBUNIT VIII, A Asterisk 123875 CYSTEINE-RICH INTESTINAL PROTEIN 1; CRIP1 CYSTEINE-RICH INTESTINAL PROTEIN; CRIP;; CYSTEINE-RICH HEART PROTEIN; CRHP Asterisk 123876 CYSTEINE- AND GLYCINE-RICH PROTEIN 1; CSRP1 CYSTEINE-RICH PROTEIN 1; CRP1;; CYSTEINE-RICH PROTEIN; CSRP; CRP NULL 123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE GORHAM-STOUT DISEASE; GSD;; OSTEOLYSIS, MASSIVE Asterisk 123885 S100 CALCIUM-BINDING PROTEIN A8; S100A8 CYSTIC FIBROSIS ANTIGEN; CFAG;; CALGRANULIN A; CAGA; CGLA;; MYELOID-RELATED PROTEIN 8; MRP8 S100A8/S100A9 COMPLEX, INCLUDED;; CALPROTECTIN, INCLUDED Asterisk 123886 S100 CALCIUM-BINDING PROTEIN A9; S100A9 CYSTIC FIBROSIS ANTIGEN B;; CALGRANULIN B; CAGB; CGLB;; MYELOID-RELATED PROTEIN 14; MRP14 S100A9/S100A8 COMPLEX, INCLUDED;; CALPROTECTIN, INCLUDED Asterisk 123889 INTERLEUKIN 10 RECEPTOR, BETA; IL10RB IL10R2;; CYTOKINE RECEPTOR FAMILY II, MEMBER 4; CRFB4 Asterisk 123890 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4 CD152 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4, SOLUBLE ISOFORM, INCLUDED Asterisk 123900 EZRIN; EZR VILLIN 2; VIL2;; CYTOVILLIN; CVIL; CVL Asterisk 123910 GRANZYME B; GZMB CYTOTOXIC T-LYMPHOCYTE-ASSOCIATED SERINE ESTERASE 1; CTLA1;; GRANZYME 2;; PROTEASE, SERINE, B; CSPB;; CATHEPSIN G-LIKE 1; CGL1 Asterisk 123920 CYTIDINE DEAMINASE; CDA Asterisk 123930 CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6 CYTOCHROME P450, PHENOBARBITAL-INDUCIBLE Asterisk 123940 KERATIN 4, TYPE II; KRT4 K4;; KB4;; CYTOKERATIN 4; CYK4; CK4 Caret 123950 MOVED TO 250790 Caret 123960 MOVED TO 122720 Asterisk 123970 CYTOCHROME C, SOMATIC; CYCS CYTOCHROME C; CYC Asterisk 123980 CYTOCHROME C1; CYC1 Asterisk 123995 CYTOCHROME c OXIDASE, SUBUNIT 7A1; COX7A1 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 1;; CYTOCHROME c OXIDASE, SUBUNIT VIIa, MUSCLE ISOFORM; COX7AM Asterisk 123996 CYTOCHROME c OXIDASE, SUBUNIT 7A2; COX7A2 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 2;; CYTOCHROME c OXIDASE, SUBUNIT VIIa, LIVER ISOFORM 1;; COX7AL; COX7AL1 NULL 123997 CYTOCHROME c OXIDASE, SUBUNIT 7A2, PSEUDOGENE 2; COX7A2P2 CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 3; COX7A3;; CYTOCHROME c OXIDASE, SUBUNIT VIIa, LIVER ISOFORM 2; COX7AL2 Number Sign 124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 Asterisk 124010 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4 CYP3; CYP3A;; P450, FAMILY III;; P450-III, STEROID-INDUCIBLE;; GLUCOCORTICOID-INDUCIBLE P450; P450C3;; CYTOCHROME P450PCN1;; NIFEDIPINE OXIDASE Asterisk 124015 CYTOCHROME P450 OXIDOREDUCTASE; POR CYTOCHROME P450 REDUCTASE Asterisk 124020 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 MEPHENYTOIN 4-PRIME-HYDROXYLASE;; P450C2C;; CYP2C Asterisk 124030 CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 CPD6;; P450DB1;; DEBRISOQUINE 4-HYDROXYLASE Asterisk 124040 CYTOCHROME P450, SUBFAMILY IIE; CYP2E1 P450C2E;; ETHANOL-INDUCIBLE P450 Asterisk 124050 D-AMINO ACID OXIDASE; DAO DAMOX;; DAAO Plus 124060 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2 CYTOCHROME P-450, AROMATIC COMPOUND-INDUCIBLE;; DIOXIN-INDUCIBLE P3-450 PHENACETIN METABOLISM, DEFECT IN, INCLUDED;; PHENACETIN O-DEETHYLASE, DEFICIENCY OF, INCLUDED Asterisk 124070 CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1 Asterisk 124075 CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1 Asterisk 124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2 STEROID 11/18-BETA-HYDROXYLASE;; STEROID 18-OXIDASE;; ALDOSTERONE SYNTHASE; ALDOS CORTICOSTERONE METHYLOXIDASE I, INCLUDED;; CMO I, INCLUDED;; CORTICOSTERONE METHYLOXIDASE II, INCLUDED;; CMO II, INCLUDED;; ALDOSTERONE TO RENIN RATIO, INCREASED, INCLUDED Asterisk 124089 CYTOCHROME c OXIDASE, SUBUNIT 6B1; COX6B1 CYTOCHROME c OXIDASE, SUBUNIT VIb, POLYPEPTIDE 1;; CYTOCHROME c OXIDASE, SUBUNIT VIb; COX6B Asterisk 124090 CYTOCHROME c OXIDASE, SUBUNIT 6C; COX6C CYTOCHROME c OXIDASE, SUBUNIT VIc COX6C/HMGIC FUSION GENE, INCLUDED Asterisk 124092 INTERLEUKIN 10; IL10 CYTOKINE SYNTHESIS INHIBITORY FACTOR; CSIF Asterisk 124095 CYTOPLASMIC TYROSINE KINASE; CSK c-SRC TYROSINE KINASE Asterisk 124097 D SITE OF ALBUMIN PROMOTER-BINDING PROTEIN; DBP DABP;; TRANSCRIPTION FACTOR DBP NULL 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY DEFN;; BALKAN ENDEMIC NEPHROPATHY; BEN;; NEPHROPATHIA EPIDEMICA Number Sign 124200 DARIER-WHITE DISEASE; DAR KERATOSIS FOLLICULARIS;; DARIER DISEASE; DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED;; DARIER DISEASE, SEGMENTAL, INCLUDED Percent 124300 DARWINIAN TUBERCLE OF PINNA DARWINIAN POINT OF PINNA DARWINIAN NOTCH, INCLUDED NULL 124400 DARWINIAN TUBERCLE OF PINNA Asterisk 124450 D-ASPARTATE OXIDASE; DDO DASOX Number Sign 124480 DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT; DDOD DDOD SYNDROME NULL 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY Number Sign 124500 VOHWINKEL SYNDROME; VOWNKL DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES;; MUTILATING KERATODERMA;; KERATODERMA HEREDITARIUM MUTILANS; KHM Caret 124580 REMOVED FROM DATABASE Percent 124700 DEAFNESS, MID-TONE NEURAL Caret 124800 MOVED TO 600994 Number Sign 124900 DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1 KONIGSMARK SYNDROME;; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA Caret 124910 MOVED TO 124900 NULL 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE NULL 125000 DEAFNESS, UNILATERAL NULL 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA Caret 125100 MOVED TO 602588 Asterisk 125220 DEFENSIN, ALPHA, 1; DEFA1 DEFENSIN 1; DEF1;; HUMAN NEUTROPHIL PEPTIDE 1; HNP1;; MYELOID-RELATED SEQUENCE; MRS DEFENSIN, ALPHA, 2, INCLUDED; DEFA2, INCLUDED;; HUMAN NEUTROPHIL PEPTIDE 2, INCLUDED; HNP2, INCLUDED;; CRYPTDIN, INCLUDED;; RETROCYCLIN, INCLUDED NULL 125230 DEAFNESS-CRANIOFACIAL SYNDROME Asterisk 125240 CD55 ANTIGEN; CD55 DECAY-ACCELERATING FACTOR FOR COMPLEMENT; DAF Number Sign 125250 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY DOMINANT OPTIC ATROPHY PLUS SYNDROME; DOA+ Asterisk 125255 DECORIN; DCN DERMATAN SULFATE PROTEOGLYCAN 2; DSPG2;; PROTEOGLYCAN II;; PG II;; PG40 Percent 125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF DIPI, CONTROL OF;; HOMOLOGOUS VIRAL INTERFERENCE;; VESICULAR STOMATITIS VIRUS DEFECTIVE INTERFERING PARTICLE REPRESSOR; VDI Asterisk 125263 SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER 1; SULT2A1 SULFOTRANSFERASE, DEHYDROEPIANDROSTERONE-PREFERRING; STD;; DHEA SULFOTRANSFERASE; DHEAST;; DEHYDROEPIANDROSTERONE SULFOTRANSFERASE Asterisk 125264 DEK ONCOGENE; DEK D6S231E DEK/NUP214 FUSION GENE, INCLUDED Asterisk 125265 RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5 DELETED IN POLYPOSIS 1; DP1;; TB2;; D5S346;; YOP1, S. CEREVISIAE, HOMOLOG OF; YOP1;; CHROMOSOME 5 OPEN READING FRAME 18; C5ORF18 Asterisk 125270 DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD ALADH;; PORPHOBILINOGEN SYNTHASE; PBGS NULL 125280 DENS EVAGINATUS Asterisk 125290 DELTA-AMINOLEVULINATE SYNTHASE 1; ALAS1 ALAS;; ALAS, HOUSEKEEPING TYPE; ALASH NULL 125300 DENS IN DENTE AND PALATAL INVAGINATIONS Asterisk 125305 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49 DEMATIN Number Sign 125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1 CADASIL;; DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;; CASIL NULL 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES Number Sign 125350 FAILURE OF TOOTH ERUPTION, PRIMARY; PFE PRIMARY FAILURE OF ERUPTION, NONSYNDROMIC;; PRIMARY RETENTION OF TEETH;; UNERUPTED SECOND PRIMARY MOLAR;; POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL;; DENTAL NONERUPTION Number Sign 125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA MYOCLONIC EPILEPSY WITH CHOREOATHETOSIS;; NAITO-OYANAGI DISEASE; NOD;; HAW RIVER SYNDROME; HRS;; ATAXIA, CHOREA, SEIZURES, AND DEMENTIA Number Sign 125400 DENTIN DYSPLASIA, TYPE I; DTDP1 DENTIN DYSPLASIA, SHIELDS TYPE I;; ROOTLESS TEETH;; RADICULAR DENTIN DYSPLASIA DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH, INCLUDED Number Sign 125420 DENTIN DYSPLASIA, TYPE II; DTDP2 DENTIN DYSPLASIA, SHIELDS TYPE II;; CORONAL DENTIN DYSPLASIA;; ANOMALOUS DYSPLASIA OF DENTIN;; PULPAL DYSPLASIA;; PULP STONES Percent 125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES Asterisk 125450 DEOXYCYTIDINE KINASE; DCK NULL 125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY Percent 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1 MANIC-DEPRESSIVE PSYCHOSIS; MD1;; BIPOLAR AFFECTIVE DISORDER; BPAD;; MANIC-DEPRESSIVE PSYCHOSIS, AUTOSOMAL Asterisk 125485 DENTIN SIALOPHOSPHOPROTEIN; DSPP DENTIN PHOSPHOPROTEIN, INCLUDED; DPP, INCLUDED;; DENTIN PHOSPHOPHORYN, INCLUDED;; DENTIN SIALOPROTEIN, INCLUDED; DSP, INCLUDED Number Sign 125490 DENTINOGENESIS IMPERFECTA 1; DGI1 OPALESCENT DENTIN;; DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTA;; OPALESCENT TEETH WITHOUT OSTEOGENESIS IMPERFECTA;; DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II;; DGI-II;; CAPDEPONT TEETH Number Sign 125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III DGI-III;; BRANDYWINE TYPE DENTINOGENESIS IMPERFECTA Asterisk 125505 DEOXYRIBONUCLEASE I; DNASE1 DNase I, LYSOSOMAL; DNL1 Caret 125510 REMOVED FROM DATABASE Percent 125520 CAYLER CARDIOFACIAL SYNDROME DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF;; ASYMMETRIC CRYING FACIES; ACF;; FACIAL PARESIS, PARTIAL, UNILATERAL NULL 125530 DERMAL RIDGES, NELSON SYNDROME Percent 125540 DERMAL RIDGES, PATTERNLESS Percent 125550 DERMAL RIDGES-OFF-THE-END; ROES RIDGES-OFF-THE-END SYNDROME NULL 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT NULL 125580 DERMATOGLYPHICS--FINGER RIDGE COUNT Percent 125590 DERMATOGLYPHICS--FINGERPRINT PATTERN Number Sign 125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR Asterisk 125597 DERMATOPONTIN; DPT NULL 125600 DERMATOSIS PAPULOSA NIGRA Number Sign 125630 VIBRATORY URTICARIA; VBU DERMODISTORTIVE URTICARIA; DDU;; VIBRATORY ANGIOEDEMA NULL 125635 DERMOGRAPHISM, FAMILIAL DERMATOGRAPHISM, FAMILIAL Percent 125640 DERMOODONTODYSPLASIA ECTODERMAL DYSPLASIA, HAIR-NAIL-TOOTH TYPE Asterisk 125643 DESMOCOLLIN 1; DSC1 Asterisk 125645 DESMOCOLLIN 2; DSC2 DESMOCOLLIN 3, FORMERLY; DSC3, FORMERLY;; DESMOSOMAL GLYCOPROTEIN II/III; DG2/3; DG2 Asterisk 125647 DESMOPLAKIN; DSP DESMOPLAKIN I, INCLUDED; DSPI, INCLUDED;; DESMOPLAKIN II, INCLUDED; DSPII, INCLUDED Caret 125650 MOVED TO 606418 Asterisk 125660 DESMIN; DES Asterisk 125670 DESMOGLEIN 1; DSG1 PEMPHIGUS FOLIACEUS ANTIGEN; PFA Asterisk 125671 DESMOGLEIN 2; DSG2 HUMAN DESMOGLEIN COLON; HDGC Number Sign 125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL DIABETES INSIPIDUS, PRIMARY CENTRAL; CDI;; DIABETES INSIPIDUS, CRANIAL TYPE Number Sign 125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DIABETES INSIPIDUS, NEPHROGENIC, TYPE II Number Sign 125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1; MODY1 MODY, TYPE 1;; MILD JUVENILE DIABETES MELLITUS Number Sign 125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 MODY, TYPE 2;; MODY, GLUCOKINASE-RELATED Number Sign 125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 INSULIN-DEPENDENT DIABETES MELLITUS 2; IDDM2 Number Sign 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM DIABETES MELLITUS, TYPE II; T2D;; NONINSULIN-DEPENDENT DIABETES MELLITUS;; MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED;; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST, INCLUDED Asterisk 125855 DIACYLGLYCEROL KINASE, ALPHA, 80-KD; DGKA DIACYLGLYCEROL KINASE, ALPHA; DAGK1;; DAGK, 80-KD;; DGK-ALPHA Plus 125860 NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1 NAD(P)H:MENADIONE OXIDOREDUCTASE 1, DIOXIN-INDUCIBLE 1; NMOR1;; DIAPHORASE 4; DIA4;; DT DIAPHORASE; DTD BENZENE TOXICITY, SUSCEPTIBILITY TO, INCLUDED;; LEUKEMIA, POST-CHEMOTHERAPY, SUSCEPTIBILITY TO, INCLUDED;; BREAST CANCER, POST-CHEMOTHERAPY SURVIVAL IN, INCLUDED Caret 125870 MOVED TO 600941 Asterisk 125880 DIAPHORASE 3; DIA3 SPERM DIAPHORASE;; GONADAL DIAPHORASE NULL 125890 DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY NULL 125900 DIASTEMA, DENTAL MEDIAL Asterisk 125950 DIAZEPAM BINDING INHIBITOR; DBI ACYL-CoA BINDING PROTEIN; ACBP;; CHOLECYSTOKININ-RELEASING PEPTIDE, TRYPSIN-SENSITIVE Percent 126050 DIGITOTALAR DYSMORPHISM ULNAR DRIFT, HEREDITARY Asterisk 126060 DIHYDROFOLATE REDUCTASE; DHFR DIHYDROFOLATE REDUCTASE PSEUDOGENES, INCLUDED;; DHFR PSEUDOGENES, INCLUDED Caret 126061 MOVED TO 126060 Asterisk 126063 DIHYDROLIPOAMIDE S-SUCCINYLTRANSFERASE; DLST ALPHA-KETOGLUTARATE DEHYDROGENASE COMPLEX, E2 COMPONENT Asterisk 126064 DIHYDROOROTATE DEHYDROGENASE; DHODH DHOdehase;; URA1, YEAST, HUMAN COMPLEMENT OF Asterisk 126065 CYTOCHROME P450, FAMILY 24, SUBFAMILY A, POLYPEPTIDE 1; CYP24A1 CYTOCHROME P450, SUBFAMILY XXIV; CYP24;; 1,25-DIHYDROXYVITAMIN D3 24-HYDROXYLASE;; VITAMIN D 24-HYDROXYLASE Percent 126070 DILUTION, PIGMENTARY ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT;; ALBINISM, PARTIAL;; HYPOPIGMENTATION Asterisk 126090 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 1; PCBD1 PCBD;; DIMERIZATION COFACTOR OF HEPATIC NUCLEAR FACTOR 1-ALPHA; DCOH NULL 126100 DIMPLES, FACIAL CHEEK DIMPLES;; SMILING DIMPLES Asterisk 126110 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR; ARNT DIOXIN RECEPTOR, NUCLEAR TRANSLOCATOR;; HYPOXIA-INDUCIBLE FACTOR 1, BETA SUBUNIT; HIF1B;; HIF1-BETA;; TANGO ARNT/TEL FUSION GENE, INCLUDED Caret 126140 MOVED TO 102720 Asterisk 126141 DIPEPTIDYL PEPTIDASE VI; DPP6 DIPEPTIDYL PEPTIDASE IV-RELATED PROTEIN;; DPPX Asterisk 126150 HEPARIN-BINDING EGF-LIKE GROWTH FACTOR; HBEGF HEPARIN-BINDING EGF;; HEGFL;; DIPHTHERIA TOXIN RECEPTOR; DTR NULL 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN SENSORY DISCRIMINATION NULL 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS Number Sign 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS DISSEMINATED SCLEROSIS MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1, INCLUDED; MS1, INCLUDED NULL 126250 DISTAL OSTEOSCLEROSIS OSTEOSCLEROSIS, DISTAL Asterisk 126255 DISTAL-LESS HOMEOBOX 2; DLX2 TES1 Percent 126300 DISTICHIASIS EYELASHES, TWO ROWS OF NULL 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE Asterisk 126330 DNA, CYTOPLASMIC-MEMBRANE; DNCM cmDNA Asterisk 126335 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, ALPHA; GADD45A DNA DAMAGE-INDUCIBLE TRANSCRIPT 1; DDIT1;; DNA DAMAGE-INDUCIBLE GENE GADD45; GADD45 Asterisk 126337 DNA DAMAGE-INDUCIBLE TRANSCRIPT 3; DDIT3 C/EBP-HOMOLOGOUS PROTEIN; CHOP;; GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD153; GADD153 CHOP/FUS FUSION GENE, INCLUDED;; CHOP/EWS FUSION GENE, INCLUDED Asterisk 126340 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; ERCC2 DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; EM9;; XPD GENE; XPD Asterisk 126350 DEOXYRIBONUCLEASE II, LYSOSOMAL; DNASE2 DNase II, LYSOSOMAL; DNL2 NULL 126370 DNA, SATELLITE, III; HS3; D1Z1 Asterisk 126375 DNA METHYLTRANSFERASE 1; DNMT1 DNA METHYLTRANSFERASE; DNMT;; DNA CYTOSINE-5-METHYLTRANSFERASE; MCMT;; CXXC FINGER PROTEIN 9; CXXC9 Asterisk 126380 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; ERCC1 DNA REPAIR DEFECT UV-20 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; UV20 NULL 126390 DNA, LOW-REPETITIVE SEQUENCES OF REPETITIVE SEQUENCE DNA Asterisk 126391 LIGASE I, DNA, ATP-DEPENDENT; LIG1 DNA LIGASE I NULL 126410 DNA, SATELLITE, ALPHA TYPE Asterisk 126420 TOPOISOMERASE, DNA, I; TOP1 TOP1/NUP98 FUSION GENE, INCLUDED Asterisk 126430 TOPOISOMERASE, DNA, II, ALPHA; TOP2A DNA TOPOISOMERASE II; TOP2 Asterisk 126431 TOPOISOMERASE, DNA, II, BETA; TOP2B Caret 126440 REMOVED FROM DATABASE Caret 126448 MOVED TO 126453 Asterisk 126449 DOPAMINE RECEPTOR D1; DRD1 DOPAMINE RECEPTOR D1A; DRD1A Asterisk 126450 DOPAMINE RECEPTOR D2; DRD2 D2R Asterisk 126451 DOPAMINE RECEPTOR D3; DRD3 Asterisk 126452 DOPAMINE RECEPTOR D4; DRD4 D4DR Asterisk 126453 DOPAMINE RECEPTOR D5; DRD5 DOPAMINE RECEPTOR D1B; DRD1B Asterisk 126455 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; SLC6A3 DOPAMINE TRANSPORTER; DAT;; DAT1 NULL 126500 DOUBLE NAIL FOR FIFTH TOE Number Sign 126550 CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY; CDL DOUGHNUT LESIONS OF SKULL, FAMILIAL CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA, INCLUDED; CDLSMD, INCLUDED Number Sign 126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD DOYNE HONEYCOMB DEGENERATION OF RETINA; DHD MALATTIA LEVENTINESE, INCLUDED; MLVT, INCLUDED;; DRUSEN, RADIAL, AUTOSOMAL DOMINANT, INCLUDED Asterisk 126650 SOLUTE CARRIER FAMILY 26, MEMBER 3; SLC26A3 DOWNREGULATED IN ADENOMA; DRA Asterisk 126660 DREBRIN E; DBN1 Number Sign 126700 BASAL LAMINAR DRUSEN DRUSEN OF BRUCH MEMBRANE;; DRUSEN, CUTICULAR;; DRUSEN, EARLY ADULT-ONSET, GROUPED Percent 126800 DUANE RETRACTION SYNDROME 1; DURS1 DRS;; DUANE SYNDROME; DUS;; DUANE ANOMALY;; RETRACTION SYNDROME Caret 126830 MOVED TO 169100 NULL 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION Percent 126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I Percent 126900 DUPUYTREN CONTRACTURE DUPUYTREN CONTRACTURE 1, INCLUDED; DUPC1, INCLUDED;; PLANTAR FIBROMAS, INCLUDED;; PLANTAR FIBROMATOSIS, FAMILIAL, INCLUDED NULL 126950 DWARFISM WITH TALL VERTEBRAE Number Sign 127000 KENNY-CAFFEY SYNDROME, TYPE 2; KCS2 DWARFISM, CORTICAL THICKENING OF TUBULAR BONES, AND TRANSIENT HYPOCALCEMIA;; KENNY SYNDROME NULL 127100 DWARFISM, LEVI TYPE SNUB-NOSED TYPE OF DWARFISM NULL 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES MOORE-FEDERMAN SYNDROME Number Sign 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD DYSCHONDROSTEOSIS; DCO MADELUNG DEFORMITY, INCLUDED NULL 127350 DYSCHONDROSTEOSIS AND NEPHRITIS Number Sign 127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; DSH1;; RETICULATE ACROPIGMENTATION OF DOHI; RAD;; SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES Number Sign 127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1 Number Sign 127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 DYSKERATOSIS CONGENITA, SCOGGINS TYPE Percent 127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL; HBID DKBI Number Sign 127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 WORD-BLINDNESS, CONGENITAL;; READING DISABILITY, SPECIFIC, 1 DYSLEXIA, SUSCEPTIBILITY TO, 4, INCLUDED; DYX4, INCLUDED;; DYSLEXIA, SUSCEPTIBILITY TO, 7, INCLUDED; DYX7, INCLUDED Number Sign 127750 DEMENTIA, LEWY BODY; DLB LEWY BODY DEMENTIA;; DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY, INCLUDED;; LEWY BODY VARIANT OF ALZHEIMER DISEASE, INCLUDED NULL 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA TREVOR DISEASE NULL 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS OSTEOCHONDROMATOSIS, DOMINANT CARPOTARSAL Percent 128000 DYSTELEPHALANGY KIRNER DEFORMITY Number Sign 128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 DYSTONIA MUSCULORUM DEFORMANS 1;; EARLY-ONSET TORSION DYSTONIA; EOTD Number Sign 128101 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4 WHISPERING DYSPHONIA, HEREDITARY;; DYSTONIA MUSCULORUM DEFORMANS 4 Number Sign 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1 PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;; PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;; DYSTONIA, FAMILIAL PAROXYSMAL;; DYSTONIA 10; DYT10 Number Sign 128230 DYSTONIA, DOPA-RESPONSIVE; DRD DYSTONIA 5; DYT5;; DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION;; DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION;; SEGAWA SYNDROME, AUTOSOMAL DOMINANT;; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT;; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT Number Sign 128235 DYSTONIA 12; DYT12 DYSTONIA-PARKINSONISM, RAPID-ONSET; RDP Asterisk 128239 DYSTROPHIN-ASSOCIATED GLYCOPROTEIN 1; DAG1 DAG;; DYSTROGLYCAN, ALPHA;; AGRIN RECEPTOR; AGRNR DYSTROGLYCAN, BETA, INCLUDED Asterisk 128240 UTROPHIN; UTRN DYSTROPHIN-LIKE PROTEIN; DMDL;; DYSTROPHIN-RELATED PROTEIN 1; DRP1;; DRP Asterisk 128260 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE E; SNRPE E PROTEIN OF SMALL NUCLEAR RIBONUCLEOPROTEIN COMPLEXES NULL 128290 EAR ANTITRAGUS, TAG AT BASE OF NULL 128300 EAR EXOSTOSES EXOSTOSES OF EXTERNAL AUDITORY CANAL NULL 128400 EAR FLARE NULL 128500 EAR FOLDING Percent 128600 EAR MALFORMATION CUP EAR Percent 128700 PREAURICULAR FISTULAE, CONGENITAL PAFC;; EAR PITS NULL 128710 EAR PITS, POSTERIOR HELICAL POSTERIOR HELICAL EAR PITS; PHEP EARLOBE INDENTATIONS, POSTERIOR, INCLUDED NULL 128800 EAR WITHOUT HELIX NULL 128900 EARLOBE ATTACHMENT, ATTACHED VS UNATTACHED NULL 128950 EARLOBE CREASE Percent 128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES Asterisk 128990 EARLY GROWTH RESPONSE 1; EGR1 KROX24;; NERVE GROWTH FACTOR-INDUCED CLONE A; NGFIA;; ZIF268 Asterisk 128992 EARLY GROWTH RESPONSE 4; EGR4 NERVE GROWTH FACTOR-INDUCED CLONE C; NGFIC NULL 129000 EARRING HOLES, NATURAL EARLOBE SINUSES Asterisk 129010 EARLY GROWTH RESPONSE 2; EGR2 KROX20 NULL 129100 EARS, ABILITY TO MOVE Percent 129150 ECHO VIRUS 11 SENSITIVITY; E11S Asterisk 129190 ECTO-5-PRIME NUCLEOTIDASE; NT5E E5NT; ENT; NTE;; NUCLEOTIDASE, ECTO-5-PRIME; NT5;; CD73 Number Sign 129200 BASAN SYNDROME ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES;; ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE Number Sign 129400 RAPP-HODGKIN SYNDROME; RHS ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE Number Sign 129490 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED Number Sign 129500 CLOUSTON SYNDROME ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE; ECTD2;; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT;; CLOUSTON HIDROTIC ECTODERMAL DYSPLASIA;; ECTODERMAL DYSPLASIA, HIDROTIC, 2, FORMERLY; HED2, FORMERLY NULL 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE NULL 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET NULL 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST Number Sign 129600 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 NULL 129750 ECTOPIA PUPILLAE NULL 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE EEC SYNDROME WITHOUT CLEFT LIP/PALATE NULL 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME ECP SYNDROME NULL 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL Number Sign 129850 EDINBURGH MALFORMATION SYNDROME Percent 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 EEC;; EEC SYNDROME 1 NULL 129905 EGASYN ESTERASE 22; ES22 Number Sign 130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 EHLERS-DANLOS SYNDROME, TYPE I, FORMERLY; EDS1, FORMERLY;; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE, FORMERLY;; EDS I, FORMERLY;; EHLERS-DANLOS SYNDROME, GRAVIS TYPE, FORMERLY Number Sign 130010 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2 EHLERS-DANLOS SYNDROME, TYPE II, FORMERLY; EDS2, FORMERLY;; EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE, FORMERLY;; EDS II, FORMERLY;; EHLERS DANLOS SYNDROME, MITIS TYPE, FORMERLY Percent 130020 EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE; EDSHMB EHLERS-DANLOS SYNDROME, TYPE III; EDS3;; EDS III;; BENIGN HYPERMOBILITY SYNDROME Number Sign 130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; EDS4;; EDS IV;; EHLERS-DANLOS SYNDROME, ARTERIAL TYPE;; EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE;; EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE Number Sign 130060 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1; EDSARTH1 EHLERS-DANLOS SYNDROME, TYPE VIIA, AUTOSOMAL DOMINANT; EDS7A;; EDS VIIA;; ARTHROCHALASIS MULTIPLEX CONGENITA;; EDS VII, MUTANT PROCOLLAGEN TYPE Number Sign 130070 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1; EDSSPD1 EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA;; PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF;; PDS, DEFECTIVE BIOSYNTHESIS OF;; DERMATAN SULFATE PROTEOGLYCAN;; XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY;; XGPT DEFICIENCY;; GALACTOSYLTRANSFERASE I DEFICIENCY;; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, FORMERLY; EDSP1, FORMERLY Number Sign 130080 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1 EHLERS-DANLOS SYNDROME, TYPE VIII; EDS8;; EDS VIII;; EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE;; EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE NULL 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED EDS, UNSPECIFIED TYPE;; EHLERS-DANLOS SYNDROME, FRIEDMAN-HARROD TYPE NULL 130100 ELASTOSIS PERFORANS SERPIGINOSA; EPS ELASTOMA INTRAPAPILLARE PERFORANS VERRUCIFORMIS;; MIESCHER ELASTOMA Asterisk 130120 CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 1; CELA1 ELASTASE 1; ELA1;; ELASTASE, PANCREATIC, FORMERLY Asterisk 130130 ELASTASE, NEUTROPHIL-EXPRESSED; ELANE ELASTASE 2; ELA2;; ELASTASE, NEUTROPHIL; NE;; HNE;; ELASTASE, LEUKOCYTE;; HLE;; MEDULLASIN;; PROTEASE, SERINE, BONE MARROW Asterisk 130135 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 1; SERPINB1 PROTEASE INHIBITOR 2, MONOCYTE/NEUTROPHIL DERIVED; ELANH2;; ELASTASE INHIBITOR, MONOCYTE/NEUTROPHIL; EI Asterisk 130160 ELASTIN; ELN Percent 130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE EEG, LOW-VOLTAGE; EEGL;; ELECTROENCEPHALOGRAPHIC VARIANT PATTERN 1; EEGV1 Percent 130190 ELECTROENCEPHALOGRAPHIC PATTERN, BETA FREQUENCY, QUANTITATIVE TRAIT LOCUS; EEGBQTL NULL 130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON NULL 130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS NULL 130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES Asterisk 130410 ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE; ETFB Asterisk 130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41 PROTEIN 4.1, RED BLOOD CELL TYPE; 4.1R;; EL1 GENE Asterisk 130590 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-1; EEF1A1 ELONGATION FACTOR 1, ALPHA-1;; ELONGATION FACTOR 1, ALPHA; EF1A; EEF1A CERVICAL CANCER SUPPRESSOR 3 ISOFORM, INCLUDED; CCS3, INCLUDED Caret 130591 MOVED TO 600655 Asterisk 130592 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, DELTA; EEF1D ELONGATION FACTOR 1, DELTA; EF1D;; GUANINE NUCLEOTIDE EXCHANGE PROTEIN Asterisk 130593 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, GAMMA; EEF1G ELONGATION FACTOR 1, GAMMA; EF1G;; EEF1B-GAMMA Number Sign 130600 ELLIPTOCYTOSIS 2; EL2 ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE Asterisk 130610 EUKARYOTIC TRANSLATION ELONGATION FACTOR 2; EEF2 ELONGATION FACTOR 2; EF2;; POLYPEPTIDYL-tRNA TRANSLOCASE Asterisk 130620 RIBOSOMAL PROTEIN S14; RPS14 EMETINE RESISTANCE GENE; EMTB Number Sign 130650 BECKWITH-WIEDEMANN SYNDROME; BWS EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME;; EMG SYNDROME;; WIEDEMANN-BECKWITH SYNDROME; WBS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED Asterisk 130660 ELASTIN MICROFIBRIL INTERFACER 1; EMILIN1 ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN; EMILIN NULL 130700 EMPHYSEMA, HEREDITARY PULMONARY NULL 130710 EMPHYSEMA, CONGENITAL LOBAR; CLE Number Sign 130720 LATERAL MENINGOCELE SYNDROME; LMNS LMS;; LEHMAN SYNDROME Number Sign 130900 AMELOGENESIS IMPERFECTA, TYPE IIIA; AI3A AMELOGENESIS IMPERFECTA, TYPE III; AI3;; AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT; ADHCAI;; AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE NULL 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD Number Sign 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1 MEN I;; ENDOCRINE ADENOMATOSIS, MULTIPLE;; MEA I;; WERMER SYNDROME MEN1 SOMATIC MUTATIONS, INCLUDED Asterisk 131150 ENDOGENOUS RETROVIRAL SEQUENCE 1; ERV1 Asterisk 131170 ENDOGENOUS RETROVIRAL SEQUENCE 3; ERV3 HUMAN PROVIRUS-LINKED KRUPPEL; HPLK Asterisk 131180 ENDOGENOUS RETROVIRAL POL-LIKE SEQUENCE-2; ERPL2 Asterisk 131190 ENDOGENOUS RETROVIRAL POL-LIKE SEQUENCE-1; ERPL1 ONCOGENE HLM2 Asterisk 131195 ENDOGLIN; ENG CD105 Percent 131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 ENDO1 Asterisk 131210 SELECTIN E; SELE E-SELECTIN;; ENDOTHELIAL LEUKOCYTE ADHESION MOLECULE 1; ELAM1;; ELAM Asterisk 131220 FIBROBLAST GROWTH FACTOR 1; FGF1 ENDOTHELIAL CELL GROWTH FACTOR; ECGF;; HEPARIN-BINDING GROWTH FACTOR 1; HBGF1;; FIBROBLAST GROWTH FACTOR, ACIDIC; FGFA; AFGF ENDOTHELIAL CELL GROWTH FACTOR, ALPHA, INCLUDED; ECGFA, INCLUDED;; ENDOTHELIAL CELL GROWTH FACTOR, BETA, INCLUDED; ECGFB, INCLUDED Asterisk 131222 THYMIDINE PHOSPHORYLASE; TYMP TP;; ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED; ECGF; ECGF1;; PLATELET-DERIVED ENDOTHELIAL CELL GROWTH FACTOR; PDECGF;; GLIOSTATIN Asterisk 131230 ANNEXIN A5; ANXA5 ANNEXIN V; ANX5;; ENDONEXIN II; ENX2;; PLACENTAL ANTICOAGULANT PROTEIN I;; VASCULAR ANTICOAGULANT-ALPHA;; LIPOCORTIN V;; PLACENTAL PROTEIN 4; PP4;; ANCHORIN CII Asterisk 131235 KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 1; KDELR1 ERD2, S. CEREVISIAE, HOMOLOG OF; ERD2;; HDEL RECEPTOR, S. CEREVISIAE, HOMOLOG OF Plus 131240 ENDOTHELIN 1; EDN1 ET1 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7, INCLUDED; HDLCQ7, INCLUDED;; PREPROENDOTHELIN 1, INCLUDED Asterisk 131241 ENDOTHELIN 2; EDN2 ET2 Asterisk 131242 ENDOTHELIN 3; EDN3 ET3 Asterisk 131243 ENDOTHELIN RECEPTOR, TYPE A; EDNRA ENDOTHELIN RECEPTOR, ET1-SPECIFIC TYPE; ETA;; ETRA Asterisk 131244 ENDOTHELIN RECEPTOR, TYPE B; EDNRB ENDOTHELIN RECEPTOR, NONSELECTIVE TYPE; ETB;; ETRB; ETBR Asterisk 131290 ENGRAILED 1; EN1 Number Sign 131300 CAMURATI-ENGELMANN DISEASE; CAEND CED;; ENGELMANN DISEASE;; DIAPHYSEAL DYSPLASIA 1, PROGRESSIVE; DPD1;; PROGRESSIVE DIAPHYSEAL DYSPLASIA; PDD Asterisk 131310 ENGRAILED 2; EN2 Asterisk 131320 GATA-BINDING PROTEIN 3; GATA3 ENHANCER-BINDING PROTEIN GATA3 Asterisk 131330 PROENKEPHALIN; PENK ENKEPHALIN A;; PREPROENKEPHALIN A Asterisk 131340 PRODYNORPHIN; PDYN ENKEPHALIN B;; PREPROENKEPHALIN B Asterisk 131360 ENOLASE 2; ENO2 ENOLASE, GAMMA;; ENOLASE, NEURON-SPECIFIC; NSE Asterisk 131370 ENOLASE 3; ENO3 ENOLASE, BETA;; ENOLASE, MUSCLE-SPECIFIC; MSE NULL 131375 ENOLASE, SPERM SPECIFIC; ENO4 Asterisk 131390 NIDOGEN 1; NID1 NIDOGEN; NID;; ENTACTIN Asterisk 131398 RIBONUCLEASE, RNase A FAMILY, 3; RNASE3 RNS3;; EOSINOPHIL CATIONIC PROTEIN; ECP Asterisk 131399 EOSINOPHIL PEROXIDASE; EPX Percent 131400 EOSINOPHILIA, FAMILIAL EOS Asterisk 131410 RIBONUCLEASE, RNase A FAMILY, 2; RNASE2 RNS2;; EOSINOPHIL-DERIVED NEUROTOXIN; EDN NULL 131430 EOSINOPHILOPENIA EOSINOPHIL APLASIA Number Sign 131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA MPE; EMP;; EOSINOPHILS, MALIGNANT PROLIFERATION OF Caret 131445 MOVED TO 137800 NULL 131450 EPIBLEPHARON OF LOWER LID NULL 131460 EPIBLEPHARON OF UPPER LID Percent 131500 EPICANTHUS Asterisk 131530 EPIDERMAL GROWTH FACTOR; EGF UROGASTRONE; URG Asterisk 131550 EPIDERMAL GROWTH FACTOR RECEPTOR; EGFR V-ERB-B AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG;; ONCOGENE ERBB;; ERBB1;; HER1;; SPECIES ANTIGEN 7; SA7 EGFR/SEPT14 FUSION GENE, INCLUDED Asterisk 131560 FLOTILLIN 2; FLOT2 EPIDERMAL SURFACE ANTIGEN 1; ESA1;; MEMBRANE COMPONENT, CHROMOSOME 17, SURFACE MARKER 1; M17S1 NULL 131600 EPIDERMOID CYSTS Number Sign 131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM;; DYSTROPHIC EPIDERMOLYSIS BULLOSA, NEONATAL Number Sign 131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE; EBDCT;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE;; ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED; EBDSC, INCLUDED Number Sign 131760 EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE;; EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Number Sign 131800 EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE;; EPIDERMOLYSIS BULLOSA OF HANDS AND FEET;; EBS, ACRAL FORM Number Sign 131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL;; DEB, PRETIBIAL;; EPIDERMOLYSIS BULLOSA, PRETIBIAL NULL 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE Number Sign 131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED EBS, GENERALIZED;; EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE Number Sign 131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; EBSOG Number Sign 131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBSMP SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING Number Sign 132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE NULL 132090 EPILEPSY, BENIGN OCCIPITAL; BOE Percent 132100 PHOTOPAROXYSMAL RESPONSE 1; PPR1 PPR;; PHOTOSENSITIVITY;; PHOTOCONVULSIVE REACTION;; EPILEPSY, PHOTOGENIC NULL 132300 EPILEPSY, READING Asterisk 132350 SYNTAXIN 2; STX2 EPIMORPHIN; EPIM;; SYNTAXIN 2A; STX2A;; SYNTAXIN 2B; STX2B;; SYNTAXIN 2C; STX2C Number Sign 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-RELATED EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED;; EPIPHYSEAL DYSPLASIA, RIBBING TYPE, INCLUDED Number Sign 132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD NULL 132500 EPISTAXIS, HEREDITARY Number Sign 132600 PILOMATRIXOMA PILOMATRICOMA; PTR;; EPITHELIOMA CALCIFICANS OF MALHERBE Number Sign 132700 CYLINDROMATOSIS, FAMILIAL ANCELL-SPIEGLER CYLINDROMAS;; 'TURBAN TUMOR' SYNDROME;; CYLINDROMAS, DERMAL ECCRINE Number Sign 132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; MSSE FERGUSON-SMITH-TYPE EPITHELIOMA;; ESS1, FORMERLY Asterisk 132810 EPOXIDE HYDROLASE 1, MICROSOMAL; EPHX1 EPOXIDE HYDROLASE; EPHX;; EPOXIDE HYDROLASE, MICROSOMAL XENOBIOTIC; EPOX Asterisk 132811 EPOXIDE HYDROLASE 2, CYTOSOLIC; EPHX2 NULL 132850 EPSTEIN-BARR VIRUS INSERTION SITE 1; EBVS1 EPSTEIN-BARR VIRUS INTEGRATION SITE Caret 132860 REMOVED FROM DATABASE Asterisk 132880 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 6; NR2F6 V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG-LIKE 2; ERBAL2;; ERBA-RELATED 2; EAR2 Asterisk 132890 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP F, MEMBER 1; NR2F1 TRANSCRIPTION FACTOR COUP 1; TFCOUP1;; CHICKEN OVALBUMIN UPSTREAM PROMOTER TRANSCRIPTION FACTOR 1; COUPTFI; COUPTF1;; ERBA-RELATED 3; EAR3;; V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG-LIKE 3; ERBAL3 Number Sign 132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 FAA4;; AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS NULL 132990 ERYTHEMA NODOSUM, FAMILIAL Percent 133000 ERYTHEMA PALMARE HEREDITARIUM Number Sign 133020 ERYTHERMALGIA, PRIMARY ERYTHROMELALGIA, PRIMARY;; ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER, INCLUDED; SFNP, INCLUDED Asterisk 133090 STOMATIN; STOM ERYTHROCYTE SURFACE PROTEIN BAND 7.2; EPB72;; ERYTHROCYTE BAND 7 INTEGRAL MEMBRANE PROTEIN; BND7 Number Sign 133100 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1 POLYCYTHEMIA, PRIMARY FAMILIAL AND CONGENITAL; PFCP;; ERYTHROCYTOSIS, AUTOSOMAL DOMINANT BENIGN Asterisk 133170 ERYTHROPOIETIN; EPO EP Asterisk 133171 ERYTHROPOIETIN RECEPTOR; EPOR Number Sign 133180 ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO; FERLK DI GUGLIELMO DISEASE, FAMILIAL;; LEUKEMIA, ACUTE MYELOGENOUS, M6 Number Sign 133190 SPINOCEREBELLAR ATAXIA 34; SCA34 ERYTHROKERATODERMIA WITH ATAXIA Number Sign 133200 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; EKVP;; ERYTHROKERATODERMIA VARIABILIS; EKV;; ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC; PSEK;; ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES;; ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE, INCLUDED;; KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED Asterisk 133220 ESTERASE A4; ESA4 Asterisk 133230 ESTERASE A-5; ESA5 ACETYLESTERASE, ADULT BRAIN ACETYLESTERASE, FETAL BRAIN, INCLUDED;; ESA7, INCLUDED Number Sign 133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SUSCEPTIBILITY TO, INCLUDED;; ESCC, SUSCEPTIBILITY TO, INCLUDED;; AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO, INCLUDED;; GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO, INCLUDED NULL 133240 ESOPHAGEAL RING, LOWER Caret 133250 MOVED TO 172460 NULL 133260 ESTERASE B; ESB NULL 133270 ESTERASE C; ESC Asterisk 133280 ESTERASE D; ESD S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED Asterisk 133290 ESTERASE B3; ESB3 NULL 133300 ESTERASE ES-2, REGULATOR FOR Caret 133420 MOVED TO 113710 Plus 133430 ESTROGEN RECEPTOR 1; ESR1 ESTROGEN RECEPTOR; ESR; ER;; ESTROGEN RECEPTOR, ALPHA; ESRA HDL CHOLESTEROL, AUGMENTED RESPONSE OF, TO HORMONE REPLACEMENT, INCLUDED;; ATHEROSCLEROSIS, SUSCEPTIBILITY TO, INCLUDED Asterisk 133435 RUNT-RELATED TRANSCRIPTION FACTOR 1, TRANSLOCATED TO, 1; RUNX1T1 RUNX1, TRANSLOCATED TO, 1;; ACUTE MYELOGENOUS LEUKEMIA 1 TRANSLOCATION 1, CYCLIN-D RELATED; AML1T1;; ETO GENE; ETO;; MYELOID TRANSLOCATION GENE ON 8q22; MTG8;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 2; ZMYND2;; CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 1; CBFA2T1 ETO/AML FUSION GENE, INCLUDED Asterisk 133440 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E; EIF4E EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 1; EIF4E1;; EIF4E FAMILY, MEMBER 1;; EIF4E-LIKE 1; EIF4EL1;; MESSENGER RNA CAP-BINDING PROTEIN EIF4E Asterisk 133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1 EWS GENE; EWS EWS/FLI1 FUSION GENE, INCLUDED;; EWS/ERG FUSION GENE, INCLUDED;; EWS/WT1 FUSION GENE, INCLUDED;; EWS/ATF1 FUSION GENE, INCLUDED;; EWS/FEV FUSION GENE, INCLUDED;; EWS/ZNF278 FUSION GENE, INCLUDED;; EWS/CREB1 FUSION GENE, INCLUDED;; EWS/NR4A3 FUSION GENE, INCLUDED;; EWS/POU5F1 FUSION GENE, INCLUDED;; EWS/ETV1 FUSION GENE, INCLUDED;; EWS/ETV4 FUSION GENE, INCLUDED;; EWS/UQCRH FUSION GENE, INCLUDED Percent 133500 EXCHONDROSIS OF PINNA, POSTERIOR EAR BUMP Asterisk 133510 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3 XPB GENE; XPB Asterisk 133520 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; ERCC4 XPF GENE Asterisk 133530 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5 ERCM2;; UV DAMAGE, EXCISION REPAIR OF, UV-135; UVDR;; RAD2, YEAST, HOMOLOG OF;; XERODERMA PIGMENTOSUM, GROUP G CORRECTING PROTEIN; XPGC;; XPG GENE; XPG Asterisk 133535 EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN MOUSE CELLS; ERCM1 Number Sign 133540 COCKAYNE SYNDROME B; CSB Asterisk 133550 SOLUTE CARRIER FAMILY 1 (NEURONAL/EPITHELIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 1; SLC1A1 EXCITATORY AMINO ACID CARRIER 1; EAAC1;; EAAT3;; GLUTAMATE TRANSPORTER, HIGH AFFINITY NULL 133600 EXOSTOSES OF HEEL NULL 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E Number Sign 133700 EXOSTOSES, MULTIPLE, TYPE I; EXT1 EXT;; MULTIPLE CARTILAGINOUS EXOSTOSES;; DIAPHYSEAL ACLASIS;; MULTIPLE OSTEOCHONDROMAS;; OSTEOCHONDROMATOSIS Number Sign 133701 EXOSTOSES, MULTIPLE, TYPE II; EXT2 NULL 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS RASMUSSEN SYNDROME Caret 133710 REMOVED FROM DATABASE Caret 133730 REMOVED FROM DATABASE Caret 133740 REMOVED FROM DATABASE NULL 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY Number Sign 133780 EXUDATIVE VITREORETINOPATHY 1; EVR1 EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT;; FEVR, AUTOSOMAL DOMINANT;; CRISWICK-SCHEPENS SYNDROME RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED NULL 133800 EYEBROW, WHORL IN NULL 133900 HEMIFACIAL HYPERPLASIA HEMIFACIAL HYPERTROPHY;; FACIAL HEMIHYPERTROPHY;; FACIAL ASYMMETRY NULL 134000 FACIAL HYPERTRICHOSIS Caret 134100 MOVED TO 601471 Percent 134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL NULL 134300 FACIAL SPASM Asterisk 134350 COMPLEMENT FACTOR D; CFD FACTOR D; DF;; ADIPSIN; ADN Asterisk 134370 COMPLEMENT FACTOR H; CFH H FACTOR 1; HF1;; FACTOR H; HF FACTOR H-LIKE 1, INCLUDED; FHL1, INCLUDED;; COMPLEMENT FACTOR H-LIKE 1, INCLUDED; CFHL1, INCLUDED Asterisk 134371 COMPLEMENT FACTOR H-RELATED 1; CFHR1 FACTOR H-RELATED GENE 1; FHR1;; H FACTOR-LIKE 1; HFL1 Asterisk 134390 COAGULATION FACTOR III; F3 TISSUE FACTOR; TF;; TISSUE THROMBOPLASTIN NULL 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS THROMBOPHILIA WITH ELEVATED FACTOR V;; PROACCELERIN EXCESS NULL 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY IV; FMFD IV;; MULTIPLE COAGULATION FACTOR DEFICIENCY IV; MCFD4 Caret 134450 MOVED TO 613878 NULL 134500 FACTOR VIII DEFICIENCY AUTOSOMAL HEMOPHILIA A NULL 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; F8F9D FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY II; FMFD II NULL 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY V; FMFD V;; MULTIPLE COAGULATION FACTOR DEFICIENCY V; MCFD5 Caret 134530 MOVED TO 227600 NULL 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY VI; FMFD VI;; MULTIPLE COAGULATION FACTOR DEFICIENCY VI; MCFD6 Asterisk 134570 FACTOR XIII, A1 SUBUNIT; F13A1 F13A;; FIBRIN STABILIZING FACTOR, A SUBUNIT;; FSF, A SUBUNIT;; FIBRINOLIGASE;; TRANSGLUTAMINASE, PLASMA Asterisk 134580 FACTOR XIII, B SUBUNIT; F13B FIBRIN STABILIZING FACTOR, B SUBUNIT;; FSF, B SUBUNIT Percent 134600 FANCONI RENOTUBULAR SYNDROME 1; FRTS1 FANCONI RENOTUBULAR SYNDROME; FRTS;; RENAL FANCONI SYNDROME; RFS;; ADULT FANCONI SYNDROME;; FANCONI SYNDROME WITHOUT CYSTINOSIS;; LUDER-SHELDON SYNDROME Number Sign 134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT FMF, AUTOSOMAL DOMINANT Asterisk 134629 FARNESYL DIPHOSPHATE SYNTHASE; FDPS FARNESYLPYROPHOSPHATE SYNTHETASE; FPS Caret 134631 MOVED TO 134629 Caret 134632 MOVED TO 134629 Caret 134633 MOVED TO 134629 Caret 134634 MOVED TO 134629 Asterisk 134635 FARNESYLTRANSFERASE, CAAX BOX, ALPHA; FNTA PROTEIN GERANYLGERANYLTRANSFERASE TYPE I, ALPHA SUBUNIT; PGGT1A Asterisk 134636 FARNESYLTRANSFERASE, CAAX BOX, BETA; FNTB Asterisk 134637 FAS CELL SURFACE DEATH RECEPTOR; FAS TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6;; APOPTOSIS ANTIGEN 1; APT1;; FAS ANTIGEN;; SURFACE ANTIGEN APO1; APO1;; CD95 Asterisk 134638 FAS LIGAND; FASLG FASL;; TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6;; APOPTOSIS ANTIGEN LIGAND 1; APT1LG1;; APOPTOSIS ANTIGEN LIGAND;; CD95 LIGAND; CD95L;; CD178 ANTIGEN; CD178 Asterisk 134640 FATTY ACID-BINDING PROTEIN 2; FABP2 FATTY ACID-BINDING PROTEIN, INTESTINAL Asterisk 134650 FATTY ACID-BINDING PROTEIN 1; FABP1 FATTY ACID-BINDING PROTEIN, LIVER; FABPL;; Z PROTEIN Asterisk 134651 FATTY ACID-BINDING PROTEIN 3; FABP3 FATTY ACID-BINDING PROTEIN, MUSCLE AND HEART;; FATTY ACID-BINDING PROTEIN, SKELETAL MUSCLE;; MAMMARY-DERIVED GROWTH INHIBITOR; MDGI Asterisk 134660 GLUTATHIONE S-TRANSFERASE, PI; GSTP1 GLUTATHIONE S-TRANSFERASE 3; GST3;; GST, CLASS PI;; FATTY ACID ETHYL ESTER SYNTHASE III, MYOCARDIAL; FAEES3 GLUTATHIONE S-TRANSFERASE PI PSEUDOGENE, INCLUDED; GSTPP, INCLUDED Asterisk 134690 FAU GENE; FAU FBR-MuSV ASSOCIATED UBIQUITOUSLY EXPRESSED GENE Caret 134700 MOVED TO 300908 NULL 134720 FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF FECB NULL 134750 FELTY SYNDROME Asterisk 134770 FERRITIN HEAVY CHAIN 1; FTH1 FTH;; FHC;; FTHL6 NULL 134780 FEMORAL-FACIAL SYNDROME; FFS FEMORAL HYPOPLASIA-UNUSUAL FACIES SYNDROME; FHUFS Asterisk 134790 FERRITIN LIGHT CHAIN; FTL Asterisk 134795 FIBRILLARIN; FBL FLRN Asterisk 134797 FIBRILLIN 1; FBN1 FIBRILLIN; FBN Asterisk 134820 FIBRINOGEN, A ALPHA POLYPEPTIDE; FGA FIBRINOGEN--ALPHA POLYPEPTIDE CHAIN Asterisk 134830 FIBRINOGEN, B BETA POLYPEPTIDE; FGB FIBRINOGEN--BETA POLYPEPTIDE CHAIN Asterisk 134850 FIBRINOGEN, G GAMMA POLYPEPTIDE; FGG FIBRINOGEN--GAMMA POLYPEPTIDE CHAIN NULL 134900 FIBRINOLYTIC DEFECT Asterisk 134920 FIBROBLAST GROWTH FACTOR 2; FGF2 FIBROBLAST GROWTH FACTOR, BASIC; FGFB; BFGF Asterisk 134921 FIBROBLAST GROWTH FACTOR 6; FGF6 HST2 ONCOGENE Asterisk 134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 FGFR3/TACC3 FUSION GENE, INCLUDED Asterisk 134935 FIBROBLAST GROWTH FACTOR RECEPTOR 4; FGFR4 TYROSINE KINASE RELATED TO FIBROBLAST GROWTH FACTOR RECEPTOR; TKF Caret 135000 MOVED TO 178500 Number Sign 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP Number Sign 135150 BIRT-HOGG-DUBE SYNDROME; BHD HORNSTEIN-KNICKENBERG SYNDROME;; FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS Number Sign 135290 DESMOID DISEASE, HEREDITARY FIBROMATOSIS, FAMILIAL INFILTRATIVE; FIF DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED Number Sign 135300 FIBROMATOSIS, GINGIVAL, 1; GINGF1 GINGF;; GGF1;; FIBROMATOSIS, GINGIVAL, HEREDITARY; HGF Number Sign 135400 HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;; CHROMOSOME 17q24.2-q24.3 DELETION SYNDROME;; CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME;; MICRODELETION 17q24.2-q24.3 SYNDROME;; MICRODUPLICATION 17q24.2-q24.3 SYNDROME;; HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA Number Sign 135500 ZIMMERMANN-LABAND SYNDROME 1; ZLS1 LABAND SYNDROME;; FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE, AND EARS, AND SPLENOMEGALY Percent 135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS GINGIVAL FIBROMATOSIS WITH SENSORINEURAL HEARING LOSS; GFD;; JONES SYNDROME NULL 135580 FIBROMUSCULAR DYSPLASIA; FMDA FIBROMUSCULAR DYSPLASIA OF ARTERIES;; FMD Asterisk 135600 FIBRONECTIN 1; FN1 FN;; LARGE, EXTERNAL, TRANSFORMATION-SENSITIVE PROTEIN; LETS NULL 135610 FIBRONECTIN-LIKE 2; FNL2 Asterisk 135620 INTEGRIN, ALPHA-5; ITGA5 FIBRONECTIN RECEPTOR, ALPHA SUBUNIT; FNRA;; VERY LATE ACTIVATION PROTEIN 5, ALPHA SUBUNIT; VLA5A Asterisk 135630 INTEGRIN, BETA-1; ITGB1 GLYCOPROTEIN IIa;; GP IIa;; FIBRONECTIN RECEPTOR, BETA SUBUNIT; FNRB;; VERY LATE ACTIVATION PROTEIN, BETA POLYPEPTIDE;; VLA-BETA; VLAB;; CD29 Caret 135631 MOVED TO 135630 Number Sign 135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1 OPHTHALMOPLEGIA, CONGENITAL;; BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS;; FEOM1 LOCUS FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED; CFEOM3B, INCLUDED Number Sign 135750 LAURIN-SANDROW SYNDROME; LSS SANDROW SYNDROME;; MIRROR HANDS AND FEET WITH NASAL DEFECTS;; TETRAMELIC MIRROR-IMAGE POLYDACTYLY; TMIP;; MIRROR-IMAGE POLYDACTYLY; MIP;; FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED NULL 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF Asterisk 135820 FIBULIN 1; FBLN1 Asterisk 135821 FIBULIN 2; FBLN2 Number Sign 135900 COFFIN-SIRIS SYNDROME 1; CSS1 COFFIN-SIRIS SYNDROME; CSS;; FIFTH DIGIT SYNDROME;; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12; MRD12;; HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES; HHID Asterisk 135940 FILAGGRIN; FLG PROFILAGGRIN, INCLUDED NULL 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE Number Sign 136000 ADERMATOGLYPHIA; ADERM FINGERPRINTS, ABSENCE OF NULL 136100 FINGERS, RELATIVE LENGTH OF 2D:4D FINGER-LENGTH RATIO Number Sign 136120 FISH-EYE DISEASE; FED DYSLIPOPROTEINEMIC CORNEAL DYSTROPHY;; ALPHA-LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY;; ALPHA-LCAT DEFICIENCY;; LCATA DEFICIENCY Asterisk 136130 FLAVIN-CONTAINING MONOOXYGENASE 1; FMO1 FMO, FETAL LIVER Asterisk 136131 FLAVIN-CONTAINING MONOOXYGENASE 4; FMO4 FLAVIN-CONTAINING MONOOXYGENASE 2, FORMERLY; FMO2, FORMERLY;; FMO, ADULT LIVER FORM;; TRIMETHYLAMINE OXYGENASE;; TMA OXYGENASE Asterisk 136132 FLAVIN-CONTAINING MONOOXYGENASE 3; FMO3 Number Sign 136140 FLOATING-HARBOR SYNDROME; FLHS NULL 136150 FLOOD FACTOR DEFICIENCY NULL 136200 FLUSHING OF EARS AND SOMNOLENCE Percent 136300 FLYNN-AIRD SYNDROME Asterisk 136350 FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1 FMS-LIKE TYROSINE KINASE 2; FLT2;; FMS-LIKE GENE; FLG FGFR1/BCR FUSION GENE, INCLUDED;; FGFR1/FGFR1OP2 FUSION GENE, INCLUDED;; FGFR1/ZNF198 FUSION GENE, INCLUDED;; FGFR1/TACC1 FUSION GENE, INCLUDED Asterisk 136351 FMS-RELATED TYROSINE KINASE 3; FLT3 STEM CELL TYROSINE KINASE 1; STK1;; FLK2 Asterisk 136352 FMS-LIKE TYROSINE KINASE 4; FLT4 VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3; VEGFR3 NULL 136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA Asterisk 136425 FOLATE RECEPTOR 2, FETAL; FOLR2 FOLATE-BINDING PROTEIN, PLACENTAL;; FOLATE RECEPTOR, BETA Asterisk 136430 FOLATE RECEPTOR 1, ADULT; FOLR1 FOLATE-BINDING PROTEIN, ADULT; FBP;; FOLATE RECEPTOR; FOLR;; FOLATE RECEPTOR, ALPHA;; OVARIAN CANCER-ASSOCIATED ANTIGEN; MOv18 Asterisk 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR FSH RECEPTOR Asterisk 136440 3-KETODIHYDROSPHINGOSINE REDUCTASE; KDSR FOLLICULAR LYMPHOMA VARIANT TRANSLOCATION 1; FVT1;; FOLLICULAR-VARIANT-TRANSLOCATION GENE Asterisk 136470 FOLLISTATIN; FST NULL 136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL TROCHLEAR NERVE PALSY, FAMILIAL CONGENITAL;; SUPERIOR OBLIQUE OCULOMOTOR PALSY, FAMILIAL CONGENITAL;; STRABISMUS FROM SUPERIOR OBLIQUE PALSY Caret 136490 MOVED TO 103710 Percent 136500 FOCAL FACIAL DERMAL DYSPLASIA 1, BRAUER TYPE; FFDD1 BRAUER SYNDROME;; HEREDITARY SYMMETRICAL APLASTIC NEVI OF TEMPLES;; BITEMPORAL APLASIA CUTIS CONGENITA Asterisk 136510 FOLYLPOLYGLUTAMATE SYNTHETASE; FPGS Asterisk 136515 FOS-LIKE ANTIGEN 1; FOSL1 FOS-RELATED ANTIGEN 1; FRA1 Number Sign 136520 FOVEAL HYPOPLASIA 1; FVH1 FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT Asterisk 136530 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB FOLLITROPIN, BETA CHAIN Asterisk 136533 FORKHEAD BOX O1A; FOXO1A FOXO1;; FORKHEAD IN RHABDOMYOSARCOMA; FKHR;; FORKHEAD, DROSOPHILA, HOMOLOG OF, IN RHABDOMYOSARCOMA FKHR/PAX7 FUSION GENE, INCLUDED;; FKHR/PAX3 FUSION GENE, INCLUDED Asterisk 136535 FORMIN 1; FMN1 FORMIN; FMN;; LIMB DEFORMITY, MOUSE, HOMOLOG OF; LD Asterisk 136537 FORMYL PEPTIDE RECEPTOR 1; FPR1 FMLP RECEPTOR;; N-FORMYLPEPTIDE RECEPTOR Asterisk 136538 FORMYL PEPTIDE RECEPTOR 2; FPR2 FORMYL PEPTIDE RECEPTOR-LIKE 1; FPRL1;; FORMYL PEPTIDE RECEPTOR HOMOLOG 1; FPRH1;; HM63;; LIPOXIN A4 RECEPTOR; ALXR; LXA4R Asterisk 136539 FORMYL PEPTIDE RECEPTOR 3; FPR3 FORMYL PEPTIDE RECEPTOR-LIKE 2; FPRL2;; FORMYL PEPTIDE RECEPTOR HOMOLOG 2; FPRH2 Number Sign 136540 FRAGILE SITE 10q23 Number Sign 136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 NORTH CAROLINA MACULAR DYSTROPHY; NCMD;; CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHY; CAPED;; RETINAL PIGMENT EPITHELIAL DYSTROPHY, CENTRAL;; FOVEAL DYSTROPHY, PROGRESSIVE, FORMERLY Caret 136560 MOVED TO 616109 Number Sign 136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED; FRA16E, INCLUDED;; FRAGILE SITE 16p12, INCLUDED Number Sign 136580 FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1); FRA16B FRAGILE SITE 16q22 Number Sign 136590 FRAGILE SITE 20p11 NULL 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS Caret 136610 MOVED TO 601464 Number Sign 136620 FRAGILE SITE 10q25; FRA10B BrdU-DEPENDENT FRAGILE SITE Number Sign 136630 MENTAL RETARDATION, FRA12A TYPE Number Sign 136640 FRAGILE SITE 9q32 Caret 136650 MOVED TO 601153 Number Sign 136660 FRAGILE SITE 17p12 Caret 136670 REMOVED FROM DATABASE Number Sign 136680 FRASIER SYNDROME Caret 136750 MOVED TO 164770 Number Sign 136760 FRONTONASAL DYSPLASIA 1; FND1 FRONTORHINY;; FRONTONASAL DYSPLASIA; FND;; FRONTONASAL MALFORMATION; FNM;; MEDIAN FACIAL CLEFT SYNDROME Caret 136770 MOVED TO 164770 Number Sign 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY-ONSET Asterisk 136820 FUCOSIDASE, ALPHA-L, 2; FUCA2 ALPHA-L-FUCOSIDASE 2;; FUCOSIDASE, ALPHA-L, PLASMA NULL 136830 FUCOSIDASE REGULATOR ALPHA-L-FUCOSIDASE REGULATOR; FUCT Asterisk 136835 FUCOSYLTRANSFERASE 5; FUT5 ALPHA-3-FUCOSYLTRANSFERASE, PLASMA TYPE Asterisk 136836 FUCOSYLTRANSFERASE 6; FUT6 Asterisk 136840 FULL-LENGTH RETROVIRAL SEQUENCE 1; FRV1 Asterisk 136850 FUMARATE HYDRATASE; FH FUMARASE FUMARATE HYDRATASE, CYTOSOLIC, INCLUDED; FH1, INCLUDED;; FUMARATE HYDRATASE, MITOCHONDRIAL, INCLUDED; FH2, INCLUDED Asterisk 136870 FULL-LENGTH RETROVIRAL SEQUENCE 2; FRV2 Number Sign 136880 FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS, INCLUDED Asterisk 136890 FULL-LENGTH RETROVIRAL SEQUENCE 3; FRV3 Number Sign 136900 SORSBY FUNDUS DYSTROPHY; SFD FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY;; MACULAR DYSTROPHY, HEMORRHAGIC Asterisk 136950 FURIN, PAIRED BASIC AMINO ACID CLEAVING ENZYME; FURIN PAIRED BASIC AMINO ACID CLEAVING ENZYME; PACE;; PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 3; PCSK3;; SPC1 NULL 137000 FUTCHER LINE Asterisk 137010 F9 EMBRYONIC ANTIGEN; FEA Asterisk 137020 TISSUE-SPECIFIC TRANSPLANTATION ANTIGEN 3; TSTA3 GDP-KETO-6-DEOXYMANNOSE 3,5-EPIMERASE, 4-REDUCTASE;; RED CELL NADP(H)-BINDING PROTEIN;; FX Asterisk 137025 FYN ONCOGENE RELATED TO SRC, FGR, YES; FYN FYN TYROSINE KINASE PROTOONCOGENE;; SRC-LIKE KINASE; SLK;; SYN Asterisk 137026 G PROTEIN-COUPLED RECEPTOR KINASE 4; GRK4 GPRK4;; G PROTEIN-COUPLED RECEPTOR KINASE 2-LIKE; GPRK2L Asterisk 137028 GALACTOKINASE 2; GALK2 GK2 Asterisk 137030 GALACTOSE MUTAROTASE; GALM ALDOSE 1-EPIMERASE;; GALACTOSE ENZYME ACTIVATOR; GLAT;; GAL PLUS ACTIVATOR Caret 137033 MOVED TO 153619 Asterisk 137035 GALANIN; GAL GALN; GLNN NULL 137040 GALLBLADDER, AGENESIS OF NULL 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF IMMUNOGLOBULIN A, DEFECT IN ASSEMBLY OF;; IgA, DEFECT IN ASSEMBLY OF Asterisk 137060 BETA-1,4-GALACTOSYLTRANSFERASE 1; B4GALT1 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1;; GTB;; GALACTOSYLTRANSFERASE 1; GT1;; GLYCOPROTEIN 4-BETA-GALACTOSYLTRANSFERASE 2; GGTB2 LACTOSE SYNTHETASE, INCLUDED Caret 137061 MOVED TO 137060 Asterisk 137070 FUSED IN SARCOMA; FUS FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA;; TRANSLOCATED IN LIPOSARCOMA; TLS FUS/ATF1 FUSION GENE, INCLUDED;; FUS/CHOP FUSION GENE, INCLUDED;; FUS/ERG FUSION GENE, INCLUDED;; FUS/CREB3L2 FUSION GENE, INCLUDED Percent 137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF;; IgA, SELECTIVE DEFICIENCY OF;; GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OF NULL 137130 GASTRIC SNEEZING STOMACH SNEEZE REFLEX Asterisk 137140 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2 GABA-A RECEPTOR, ALPHA-2 POLYPEPTIDE Asterisk 137141 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4 GABA-A RECEPTOR, ALPHA-4 POLYPEPTIDE Asterisk 137142 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-5; GABRA5 GABA-A RECEPTOR, ALPHA-5 POLYPEPTIDE Asterisk 137143 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-6; GABRA6 GABA-A RECEPTOR, ALPHA-6 POLYPEPTIDE Asterisk 137150 4-AMINOBUTYRATE AMINOTRANSFERASE; ABAT GAMMA-AMINOBUTYRATE TRANSAMINASE; GABAT;; GABA-TRANSFERASE;; GABA-TRANSAMINASE Asterisk 137160 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABRA1 GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE Asterisk 137161 GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-1; GABRR1 GABA-C RECEPTOR, RHO-1 SUBUNIT Asterisk 137162 GAMMA-AMINOBUTYRIC ACID RECEPTOR, RHO-2; GABRR2 GABA-C RECEPTOR, RHO-2 SUBUNIT Asterisk 137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD GABA-A RECEPTOR, DELTA POLYPEPTIDE Asterisk 137164 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2 GABA-A RECEPTOR, GAMMA-2 POLYPEPTIDE Asterisk 137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 1; SLC6A1 GAMMA-AMINOBUTYRIC ACID TRANSPORTER;; GABA TRANSPORTER; GABATR;; GABATHG Asterisk 137166 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-1; GABRG1 GABA-A RECEPTOR, GAMMA-1 POLYPEPTIDE Asterisk 137167 GAMMA-GLUTAMYL CARBOXYLASE; GGCX Asterisk 137168 GAMMA-GLUTAMYLTRANSFERASE 5; GGT5 GAMMA-GLUTAMYLTRANSFERASE-LIKE ACTIVITY 1; GGTLA1;; GAMMA-GLUTAMYL TRANSPEPTIDASE-RELATED ENZYME; GGTREL;; GAMMA-GLUTAMYL CLEAVING ENZYME;; GAMMA-GLUTAMYL LEUKOTRIENASE; GGL Asterisk 137170 GAMMA-GLUTAMYL CYCLOTRANSFERASE; GGCT GLUTAMYLCYCLOTRANSFERASE, GAMMA; GCTG;; CHROMOSOME 7 OPEN READING FRAME 24; C7ORF24;; CYTOCHROME c-RELEASING FACTOR, 21-KD; CRF21 Asterisk 137181 GAMMA-GLUTAMYLTRANSFERASE 2; GGT2 Asterisk 137190 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-1; GABRB1 GABA-A RECEPTOR, BETA-1 POLYPEPTIDE Asterisk 137192 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-3; GABRB3 GABA-A RECEPTOR, BETA-3 POLYPEPTIDE Number Sign 137200 NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN GAMSTORP-WOHLFART SYNDROME;; MYOKYMIA, MYOTONIA, AND MUSCLE WASTING Asterisk 137207 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 32; LRRC32 GLYCOPROTEIN A REPETITIONS PREDOMINANT; GARP;; D11S833E NULL 137210 GASTRIC VOLVULUS, INTRATHORACIC Number Sign 137215 GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC;; GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR, INCLUDED; LBC, INCLUDED;; GASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFT PALATE, INCLUDED Asterisk 137216 ATPase, H+,K+ EXCHANGING, ALPHA SUBUNIT; ATP4A GASTRIC HYDROGEN-POTASSIUM ATPase, ALPHA;; ATP6A, FORMERLY Asterisk 137217 ATPase, H+,K+ EXCHANGING, BETA POLYPEPTIDE; ATP4B GASTRIC HYDROGEN-POTASSIUM ATPase, BETA NULL 137220 GASTRIC JUICE PEPTIDES Asterisk 137240 GASTRIC INHIBITORY POLYPEPTIDE; GIP GLUCOSE-DEPENDENT INSULINOTROPIC POLYPEPTIDE Plus 137241 GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR INSULINOTROPIC POLYPEPTIDE RECEPTOR, GLUCOSE-DEPENDENT PLASMA GLUCOSE, 2-HOUR, QUANTITATIVE TRAIT LOCUS 2, INCLUDED; PGQTL2, INCLUDED Number Sign 137245 LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE MALT LYMPHOMA;; GASTRIC LYMPHOMA, PRIMARY Asterisk 137250 GASTRIN; GAS Asterisk 137260 GASTRIN-RELEASING PEPTIDE; GRP GASTRIN-RELEASING POLYPEPTIDE;; BOMBESIN; BN NULL 137270 GASTROCUTANEOUS SYNDROME PEPTIC ULCER/HIATAL HERNIA, MULTIPLE LENTIGINES/CAFE-AU-LAIT SPOTS, HYPERTELORISM, MYOPIA NULL 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC MENETRIER DISEASE Asterisk 137290 TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; TACSTD2 MEMBRANE COMPONENT, CHROMOSOME 1, SURFACE MARKER 1; M1S1;; GASTROINTESTINAL TUMOR-ASSOCIATED ANTIGEN 1, 40-KD GLYCOPROTEIN; GA733-1;; GA733 Asterisk 137295 GATA-BINDING PROTEIN 2; GATA2 Asterisk 137350 GELSOLIN; GSN Caret 137357 MOVED TO 194072 Percent 137360 GENOCHONDROMATOSIS NULL 137370 GENU VALGUM, ST. HELENA FAMILIAL GENU VALGUM, HEREDITARY PUBERTAL NULL 137400 GEOGRAPHIC AND FISSURED TONGUE GLOSSITIS, BENIGN MIGRATORY, INCLUDED;; SCROTAL TONGUE, INCLUDED;; LINGUA PLICATA, INCLUDED Number Sign 137440 GERSTMANN-STRAUSSLER DISEASE; GSD ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE;; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GSS;; CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS;; AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY;; PRION DEMENTIA CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, INCLUDED Percent 137500 GIANT NEUTROPHIL LEUKOCYTES Number Sign 137550 MELANOCYTIC NEVUS SYNDROME, CONGENITAL; CMNS GIANT PIGMENTED HAIRY NEVUS; GPHN;; GIANT CONGENITAL PIGMENTED NEVUS;; PIGMENTED MOLES NEVUS SPILUS, INCLUDED;; SPITZ NEVUS, INCLUDED Caret 137560 MOVED TO 155100 Asterisk 137570 SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 1; SLC20A1 GIBBON APE LEUKEMIA VIRUS RECEPTOR 1; GLVR1;; PHOSPHATE TRANSPORTER 1; PIT1 Percent 137575 GIGANTIFORM CEMENTOMA, FAMILIAL CEMENTOMAS, FAMILIAL MULTIPLE;; CEMENTAL DYSPLASIA, PERIAPICAL Number Sign 137580 GILLES DE LA TOURETTE SYNDROME; GTS TOURETTE SYNDROME; TS;; TOURETTE DISORDER CHRONIC MOTOR TICS, INCLUDED Number Sign 137600 ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 IRIDOGONIODYSGENESIS, TYPE 2; IRID2;; IRIDOGONIODYSGENESIS SYNDROME; IGDS;; IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA, AUTOSOMAL DOMINANT; IHGA NULL 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE Number Sign 137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; JOAG1 GLAUCOMA 1, OPEN ANGLE, L, INCLUDED; GLC1L, INCLUDED Number Sign 137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG GLAUCOMA 1, OPEN ANGLE, E, INCLUDED; GLC1E, INCLUDED;; GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED NULL 137763 GLAUCOMA AND SLEEP APNEA Caret 137765 MOVED TO 608328 Asterisk 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP Number Sign 137800 GLIOMA SUSCEPTIBILITY 1; GLM1 GLIOMA OF BRAIN, FAMILIAL, INCLUDED; GLM, INCLUDED;; GLIOBLASTOMA MULTIFORME, INCLUDED; GBM, INCLUDED;; ASTROCYTOMA, INCLUDED;; OLIGODENDROGLIOMA, INCLUDED;; EPENDYMOMA, INCLUDED;; SUBEPENDYMOMA, INCLUDED NULL 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN Number Sign 137920 RENAL CYSTS AND DIABETES SYNDROME; RCAD MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5; MODY5;; HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, ATYPICAL;; FJHN, ATYPICAL;; GLOMERULOCYSTIC KIDNEY DISEASE, HYPOPLASTIC TYPE;; GLOMERULOCYSTIC KIDNEY, FAMILIAL HYPOPLASTIC;; CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES;; CAKUT WITH DIABETES Number Sign 137940 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES;; TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS Percent 137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1; GFND1 GLOMERULOPATHY WITH GIANT FIBRILLAR DEPOSITS;; LOBULAR GLOMERULOPATHY, FAMILIAL Asterisk 137960 MPV17, MOUSE, HOMOLOG OF; MPV17 Number Sign 138000 GLOMUVENOUS MALFORMATIONS; GVM VENOUS MALFORMATIONS WITH GLOMUS CELLS; VMGLOM;; GLOMUS TUMORS, MULTIPLE;; GLOMANGIOMAS, MULTIPLE Asterisk 138030 GLUCAGON; GCG GLUCAGON-LIKE PEPTIDE 1, INCLUDED; GLP1, INCLUDED;; GLUCAGON-LIKE PEPTIDE 2, INCLUDED; GLP2, INCLUDED Asterisk 138032 GLUCAGON-LIKE PEPTIDE 1 RECEPTOR; GLP1R GLP1 RECEPTOR Asterisk 138033 GLUCAGON RECEPTOR; GCGR Caret 138035 MOVED TO 230800 Asterisk 138040 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1; NR3C1 GLUCOCORTICOID RECEPTOR; GCCR; GR;; GCR; GRL NULL 138060 GLUCOCORTICOID RECEPTOR-LIKE 1; GRLL1 GCRL;; GLUCOCORTICOID RECEPTOR 2; GCR2 NULL 138070 GLUCOGLYCINURIA Asterisk 138079 GLUCOKINASE; GCK GK; GLK;; HEXOKINASE 4; HK4;; LIVER GLUCOKINASE; LGLK Asterisk 138090 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD GLUCOSE DEHYDROGENASE; GDH;; GDH/6PGL ENDOPLASMIC BIFUNCTIONAL PROTEIN;; HEXOSE-6-PHOSPHATE DEHYDROGENASE PRECURSOR;; GLUCOSE-6-PHOSPHATE DEHYDROGENASE, SALIVARY;; G6PD, H FORM; G6PDH;; GLUCOSE 1-DEHYDROGENASE Caret 138100 MOVED TO 138090 NULL 138110 GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE; G6PDL Asterisk 138120 HEAT-SHOCK 70-KD PROTEIN 5; HSPA5 GLUCOSE-REGULATED PROTEIN, 78-KD; GRP78;; IMMUNOGLOBULIN HEAVY CHAIN-BINDING PROTEIN; BIP Asterisk 138130 GLUTAMATE DEHYDROGENASE 1; GLUD1 GLUD;; GDH Asterisk 138140 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1 GLUCOSE TRANSPORTER 1; GLUT; GLUT1;; ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER;; HUMAN T-CELL LEUKEMIA VIRUS RECEPTOR; HTLVR;; HTLV-1 AND HTLV-2 RECEPTOR Asterisk 138150 GLUTAMATE OXALOACETATE TRANSAMINASE, MITOCHONDRIAL; GOT2 ASPARTATE AMINOTRANSFERASE, MITOCHONDRIAL Asterisk 138160 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2; SLC2A2 GLUCOSE TRANSPORTER 2; GLUT2;; GLUCOSE TRANSPORTER, LIVER/ISLET Asterisk 138170 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 3; SLC2A3 GLUCOSE TRANSPORTER 3; GLUT3;; GLUCOSE TRANSPORTER, FETAL SKELETAL MUSCLE SOLUTE CARRIER FAMILY 2, MEMBER 3 PSEUDOGENE, INCLUDED; SLC2A3P, INCLUDED;; GLUCOSE TRANSPORTER 3 PSEUDOGENE 1, INCLUDED; GLUT3P1, INCLUDED Asterisk 138180 GLUTAMATE OXALOACETATE TRANSAMINASE, SOLUBLE; GOT1 ASPARTATE AMINOTRANSFERASE, CYTOSOLIC; AST Asterisk 138190 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 4; SLC2A4 GLUCOSE TRANSPORTER 4; GLUT4;; GLUCOSE TRANSPORTER, INSULIN-RESPONSIVE Asterisk 138200 GLUTAMATE PYRUVATE TRANSAMINASE; GPT GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE RED CELL; GPT1;; GLUTAMATE PYRUVATE TRANSAMINASE, SOLUBLE LIVER;; ALANINE AMINOTRANSFERASE 1; AAT1; ALT1;; ALANINE AMINOTRANSFERASE, SOLUBLE Asterisk 138210 GLUTAMATE PYRUVATE TRANSAMINASE 2; GPT2 GLUTAMATE PYRUVATE TRANSAMINASE, MITOCHONDRIAL;; ALANINE AMINOTRANSFERASE 2; ALT2 Caret 138220 MOVED TO 138200 Asterisk 138230 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE/FRUCTOSE TRANSPORTER), MEMBER 5; SLC2A5 GLUCOSE TRANSPORTER 5; GLUT5;; GLUCOSE TRANSPORTER, KIDNEY Caret 138240 MOVED TO 138170 Asterisk 138243 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 3; GRIK3 GLUTAMATE RECEPTOR 7; GLUR7; GLR7 Asterisk 138244 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 2; GRIK2 GLUTAMATE RECEPTOR 6; GLR6; GLUR6 Asterisk 138245 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 1; GRIK1 GLUTAMATE RECEPTOR 5; GLR5; GLUR5 Asterisk 138246 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 4; GRIA4 GLUTAMATE RECEPTOR 4; GLUR4;; GLURD Asterisk 138247 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2 GLUTAMATE RECEPTOR 2; GLUR2;; GLURB Asterisk 138248 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 1; GRIA1 GLUTAMATE RECEPTOR 1; GLUR1;; GLURA Asterisk 138249 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1 N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT ZETA-1; NMDAR1;; NR1 Asterisk 138250 ALDEHYDE DEHYDROGENASE 18 FAMILY, MEMBER A1; ALDH18A1 1-PYRROLINE-5-CARBOXYLATE SYNTHETASE; PYCS;; P5CS;; GLUTAMATE GAMMA-SEMIALDEHYDE SYNTHETASE; GSAS Asterisk 138251 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, ASSOCIATED PROTEIN; GRINA N-METHYL-D-ASPARTATE RECEPTOR-ASSOCIATED PROTEIN 1; NMDARA1;; N-METHYL-D-ASPARTATE RECEPTOR, GLUTAMATE-BINDING SUBUNIT;; GLUTAMATE RECEPTOR, NMDA SUBTYPE, GLUTAMATE-BINDING SUBUNIT Asterisk 138252 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2B; GRIN2B N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-2; NMDAR2B;; NR2B Asterisk 138253 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A; GRIN2A N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-1; NMDAR2A;; NR2A Asterisk 138254 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2C; GRIN2C N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-3; NMDAR2C;; NR2C Caret 138270 MOVED TO 138385 Asterisk 138275 GLUTAMATE DECARBOXYLASE 2; GAD2 GLUTAMIC ACID DECARBOXYLASE 2;; GLUTAMATE DECARBOXYLASE, PANCREATIC ISLET AND BRAIN, 65-KD; GAD65 Caret 138276 MOVED TO 605363 NULL 138277 GLUTAMIC ACID DECARBOXYLASE, BRAIN, MEMBRANE FORM Asterisk 138280 GLUTAMINASE; GLS GLUTAMINASE, PHOSPHATE-ACTIVATED;; GLUTAMINASE, PLATELET;; KIAA0838 Asterisk 138290 GLUTAMATE-AMMONIA LIGASE; GLUL GLUTAMINE SYNTHETASE; GLNS GLUTAMATE-AMMONIA LIGASE-LIKE 1, INCLUDED; GLULL1, INCLUDED;; GLUTAMATE-AMMONIA LIGASE-LIKE 2, INCLUDED; GLULL2, INCLUDED;; GLUTAMATE-AMMONIA LIGASE-LIKE 3, INCLUDED; GLULL3, INCLUDED Asterisk 138292 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 1; GFPT1 GFAT1;; GFAT GFPT1L, INCLUDED Asterisk 138295 GLUTAMYL-PROLYL-tRNA SYNTHETASE; EPRS GLU-PRO-tRNA SYNTHETASE; GLUPRORS;; PROLYL-tRNA SYNTHETASE; PARS Asterisk 138297 GLUTAMYL AMINOPEPTIDASE; ENPEP AMINOPEPTIDASE A; APA;; GP160 Plus 138300 GLUTATHIONE REDUCTASE; GSR GLUTATHIONE REDUCTASE, HEMOLYTIC ANEMIA DUE TO DEFICIENCY OF, IN RED CELLS, INCLUDED Asterisk 138319 GLUTATHIONE PEROXIDASE 2; GPX2 GLUTATHIONE PEROXIDASE, GASTROINTESTINAL Asterisk 138320 GLUTATHIONE PEROXIDASE 1; GPX1 Asterisk 138321 GLUTATHIONE PEROXIDASE 3; GPX3 GLUTATHIONE PEROXIDASE, PLASMA Asterisk 138322 GLUTATHIONE PEROXIDASE 4; GPX4 PHOSPHOLIPID HYDROPEROXIDE GLUTATHIONE PEROXIDASE; PHGPX Asterisk 138330 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 1; MGST1 GLUTATHIONE S-TRANSFERASE 12; GST12 Asterisk 138333 GLUTATHIONE S-TRANSFERASE, MU-4; GSTM4 GLUTATHIONE S-TRANSFERASE M4 Caret 138335 MOVED TO 138370 NULL 138340 GLUTATHIONE TRANSFERASE ACTIVITY TOWARD TRANS-STILBENE OXIDE TRANS-STILBENE OXIDE GLUTATHIONE TRANSFERASE ACTIVITY Asterisk 138350 GLUTATHIONE S-TRANSFERASE, MU-1; GSTM1 GLUTATHIONE S-TRANSFERASE M1;; GLUTATHIONE TRANSFERASE, CLASS MU, 1;; GST1;; LIVER AND FIBROBLAST GST1 Asterisk 138359 GLUTATHIONE S-TRANSFERASE, ALPHA-1; GSTA1 GLUTATHIONE S-TRANSFERASE A1;; GST, CLASS ALPHA, 1 Asterisk 138360 GLUTATHIONE S-TRANSFERASE, ALPHA-2; GSTA2 GLUTATHIONE S-TRANSFERASE A2;; GLUTATHIONE S-TRANSFERASE 2; GST2;; LIVER GST2;; GST, CLASS ALPHA, 2 Caret 138370 MOVED TO 134660 Asterisk 138380 GLUTATHIONE S-TRANSFERASE, MU-2; GSTM2 GLUTATHIONE S-TRANSFERASE 4; GST4;; GLUTATHIONE S-TRANSFERASE M2;; GST, MUSCLE; GSTM Asterisk 138385 GLUTATHIONE S-TRANSFERASE, MU-5; GSTM5 GLUTATHIONE S-TRANSFERASE M5;; GLUTATHIONE S-TRANSFERASE, CLASS MU, 5 Asterisk 138390 GLUTATHIONE S-TRANSFERASE, MU-3; GSTM3 GLUTATHIONE S-TRANSFERASE M3;; BRAIN GST; GSTB;; GLUTATHIONE S-TRANSFERASE 5; GST5 Caret 138391 REMOVED FROM DATABASE Asterisk 138400 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE; GAPDH GAPD; G3PD;; OCT1 COACTIVATOR IN S PHASE, 38-KD COMPONENT;; OCAS, p38 COMPONENT Asterisk 138420 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1; GPD1 GLYCEROPHOSPHATE DEHYDROGENASE;; GLYCEROL-3-PHOSPHATE DEHYDROGENASE, CYTOSOLIC Asterisk 138430 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 2; GPD2 GLYCEROPHOSPHATE DEHYDROGENASE-2 Ca(2+)-RESPONSIVE MITOCHONDRIAL FAD-LINKED;; GPD, MITOCHONDRIAL; GPDM;; GDH2 Asterisk 138440 PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE/PHOSPHORIBOSYLGLYCINAMIDE SYNTHETASE/PHOSPHORIBOSYLAMINOIMIDAZOLE SYNTHETASE; GART GLYCINAMIDE PHOSPHORIBOSYLTRANSFERASE, INCLUDED;; GLYCINAMIDE RIBONUCLEOTIDE SYNTHETASE, INCLUDED; GARS, INCLUDED;; GLYCINAMIDE PHOSPHORIBOSYL SYNTHETASE, INCLUDED;; GLYCINAMIDE RIBONUCLEOTIDE TRANSFORMYLASE, INCLUDED; GARTF, INCLUDED;; PHOSPHORIBOSYLGLYCINAMIDE SYNTHETASE, INCLUDED; PRGS, INCLUDED;; PHOSPHORIBOSYLAMINOIMIDAZOLE SYNTHETASE, INCLUDED; PAIS, INCLUDED;; AIRS, INCLUDED;; PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE, INCLUDED; PGFT, INCLUDED Asterisk 138450 SERINE HYDROXYMETHYLTRANSFERASE, MITOCHONDRIAL; SHMT2 GLYCINE AUXOTROPH A, HUMAN COMPLEMENT FOR HAMSTER; GLY A+ Asterisk 138470 COMPLEMENT FACTOR B; CFB FACTOR B; FB;; PROPERDIN FACTOR B; BF;; FACTOR B, PROPERDIN;; C3 PROACTIVATOR;; C3 PROACCELERATOR;; GLYCINE-RICH BETA-GLYCOPROTEIN; GBG Asterisk 138480 GLYCINE B COMPLEMENTING; GLYB GLYCINE AUXOTROPH B, HUMAN COMPLEMENT OF HAMSTER;; GLY B+ Asterisk 138491 GLYCINE RECEPTOR, ALPHA-1 SUBUNIT; GLRA1 Asterisk 138492 GLYCINE RECEPTOR, BETA SUBUNIT; GLRB Number Sign 138500 HYPERGLYCINURIA GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS;; GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS;; IMINOGLYCINURIA TYPE II Asterisk 138550 GLYCOGEN PHOSPHORYLASE, BRAIN TYPE; PYGB Asterisk 138570 GLYCOGEN SYNTHASE 1; GYS1 GLYCOGEN SYNTHASE, MUSCLE;; GYS Asterisk 138571 GLYCOGEN SYNTHASE 2; GYS2 GLYCOGEN SYNTHASE, LIVER;; LIVER GLYCOGEN SYNTHASE Asterisk 138590 GLYCOPHORIN E; GYPE GPE Asterisk 138600 OROSOMUCOID 1; ORM1 ORM;; GLYCOPROTEIN, ALPHA-1-ACID, OF SERUM;; ALPHA-1-ACID GLYCOPROTEIN;; ALPHA-1-AGP; AGP1 Asterisk 138610 OROSOMUCOID 2; ORM2 GLYCOPROTEIN, ALPHA-1-ACID, OF SERUM, TYPE 2;; ALPHA-1-ACID GLYCOPROTEIN, TYPE 2; AGP2 Asterisk 138670 ALPHA-1-B-GLYCOPROTEIN; A1BG GAB;; A1B;; ABG Asterisk 138680 ALPHA-2-HS-GLYCOPROTEIN; AHSG A2HS; AHS; HSGA;; FETUIN, MOUSE, HOMOLOG OF;; FETUIN A; FETUA Asterisk 138700 APOLIPOPROTEIN H; APOH GLYCOPROTEIN I, BETA-2; B2GP1;; GLYCOPROTEIN 1, BETA-2;; BG NULL 138710 GLYCOPROTEIN, RENAL Asterisk 138720 GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE; GP1BB PLATELET GLYCOPROTEIN Ib, BETA POLYPEPTIDE;; GP Ib, BETA SUBUNIT Asterisk 138750 GLYOXALASE I; GLO1 Asterisk 138760 HYDROXYACYL GLUTATHIONE HYDROLASE; HAGH GLYOXALASE II; GLO2 NULL 138770 GMS SYNDROME GONIODYSGENESIS--MENTAL RETARDATION--SHORT STATURE SYNDROME NULL 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE, AND DIGITAL ANOMALIES MULTINODULAR GOITER/CYSTIC RENAL DISEASE/DIGITAL ANOMALIES;; MNG/CRD/DA Number Sign 138800 GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS; MNG1 GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION;; MULTINODULAR GOITER, ADOLESCENT;; EUTHYROID GOITER;; SIMPLE GOITER Asterisk 138850 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR GNRHR1;; GRHR;; LUTEINIZING HORMONE-RELEASING HORMONE RECEPTOR; LHRHR Asterisk 138890 GOOSECOID HOMEOBOX; GSC Number Sign 138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 GOUT SUSCEPTIBILITY 1; GOUT1 NULL 138920 GRANDDAD SYNDROME GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUS FAT, AUTOSOMAL DOMINANT INHERITANCE NULL 138930 GRANT SYNDROME Asterisk 138945 GRANULIN PRECURSOR; GRN PROGRANULIN; PGRN;; EPITHELIN PRECURSOR;; PROEPITHELIN; PEPI;; GRANULIN-EPITHELIN PRECURSOR; GEP;; PC CELL-DERIVED GROWTH FACTOR; PCDGF;; ACROGRANIN;; GLYCOPROTEIN, 88-KD; GP88 GRANULINS, INCLUDED;; EPITHELINS, INCLUDED Asterisk 138960 COLONY-STIMULATING FACTOR 2; CSF2 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR; GMCSF Asterisk 138965 CHEMOKINE, CXC MOTIF, LIGAND 6; CXCL6 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 6; SCYB6;; GRANULOCYTE CHEMOTACTIC PROTEIN 2; GCP2 Asterisk 138970 COLONY-STIMULATING FACTOR 3; CSF3 GRANULOCYTE COLONY-STIMULATING FACTOR; GCSF Asterisk 138971 COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R GRANULOCYTE COLONY-STIMULATING FACTOR RECEPTOR; GCSFR Asterisk 138972 CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG C/EBP-GAMMA;; GRANULOCYTE COLONY-STIMULATING FACTOR PROMOTER ELEMENT 1-BINDING PROTEIN; GPE1BP;; GPE1-BINDING PROTEIN Asterisk 138981 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, BETA; CSF2RB INTERLEUKIN 5 RECEPTOR, BETA; IL5RB;; INTERLEUKIN 3 RECEPTOR, BETA; IL3RB;; COMMON BETA CHAIN;; BETA-C NULL 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE NULL 139000 GRANULOSIS RUBRA NASI Asterisk 139080 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GRAVES DISEASE AUTOANTIGEN), MEMBER 16; SLC25A16 GRAVES DISEASE AUTOANTIGEN; GDA;; D10S105E Number Sign 139090 GRAY PLATELET SYNDROME; GPS BLEEDING DISORDER, PLATELET-TYPE, 4; BDPLT4;; PLATELET ALPHA-GRANULE DEFICIENCY Percent 139100 GRAYING OF HAIR, PRECOCIOUS WHITE HAIR, PREMATURE Asterisk 139110 CHEMOKINE, CXC MOTIF, LIGAND 2; CXCL2 GRO2 ONCOGENE; GRO2;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 2; SCYB2;; MACROPHAGE INFLAMMATORY PROTEIN 2; MIP2;; GRO PROTEIN, BETA; GROB;; MIP2-ALPHA; MIP2A Asterisk 139111 CHEMOKINE, CXC MOTIF, LIGAND 3; CXCL3 GRO3 ONCOGENE; GRO3;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B; MEMBER 3; SCYB3;; GRO PROTEIN, GAMMA; GROG;; MACROPHAGE INFLAMMATORY PROTEIN-2-BETA; MIP2B Asterisk 139130 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-3; GNB3 Asterisk 139139 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 1; NR4A1 HORMONE RECEPTOR; HMR;; GROWTH FACTOR INDUCIBLE NUCLEAR PROTEIN N10; NP10;; GROWTH FACTOR RESPONSE PROTEIN 1; GFRP1;; NAK1;; NUCLEAR HORMONE RECEPTOR TR3; TR3;; NUR77, MOUSE, HOMOLOG OF; NUR77;; NGFIB Caret 139145 MOVED TO 139139 Asterisk 139150 RAS p21 PROTEIN ACTIVATOR 1; RASA1 GUANOSINE TRIPHOSPHATASE-ACTIVATING PROTEIN;; GTPase-ACTIVATING PROTEIN; GAP;; p120 RASGAP Asterisk 139160 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA Z POLYPEPTIDE; GNAZ Asterisk 139180 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING, POLYPEPTIDE 2 PSEUDOGENE 1; GNAI2P1 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING, POLYPEPTIDE-h; GNAIH;; GUANINE NUCLEOTIDE-BINDING PROTEIN, POLYPEPTIDE 2A; GNAI2A;; GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING, POLYPEPTIDE-2-LIKE; GNAI2L Asterisk 139185 GROWTH ARREST-SPECIFIC 1; GAS1 Asterisk 139190 GROWTH HORMONE-RELEASING HORMONE; GHRH SOMATOCRININ;; GROWTH HORMONE-RELEASING FACTOR; GHRF Asterisk 139191 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR GROWTH HORMONE-RELEASING FACTOR RECEPTOR; GHRFR Asterisk 139200 GROUP-SPECIFIC COMPONENT; GC VITAMIN D-BINDING PROTEIN; DBP; VDBP;; VITAMIN D-BINDING ALPHA-GLOBULIN; VDBG Number Sign 139210 MYHRE SYNDROME; MYHRS GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE;; LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE; LAPS SYNDROME Caret 139220 REMOVED FROM DATABASE Caret 139230 REMOVED FROM DATABASE Asterisk 139240 GROWTH HORMONE 2; GH2 GROWTH HORMONE, VARIANT; GHV;; GROWTH HORMONE, PLACENTAL; GH2;; GROWTH HORMONE-LIKE; GHL Asterisk 139250 GROWTH HORMONE 1; GH1 GH;; GROWTH HORMONE, NORMAL; GHN;; GROWTH HORMONE, PITUITARY Asterisk 139255 METALLOTHIONEIN 3; MT3 METALLOTHIONEIN III;; GROWTH INHIBITORY FACTOR, BRAIN; GIFB;; GROWTH INHIBITORY FACTOR, NEUROTROPHIC; GRIF Asterisk 139259 G1- TO S-PHASE TRANSITION 1; GSPT1 GST1, YEAST, HOMOLOG OF; GST1;; PEPTIDE CHAIN RELEASE FACTOR 3A; ERF3A;; ETF3A Asterisk 139260 GUANINE DEAMINASE; GDA GUANASE;; CYTOPLASMIC PSD95 INTERACTOR; CYPIN Asterisk 139265 GUANOSINE MONOPHOSPHATE REDUCTASE; GMPR GUANOSINE MONOPHOSPHATE REDUCTASE 1; GMPR1;; GMP REDUCTASE Asterisk 139270 GUANYLATE KINASE 1; GUK1 GMP KINASE; GMK;; ATP:GMP PHOSPHOTRANSFERASE NULL 139280 GUANYLATE KINASE 2; GUK2 NULL 139290 GUANYLATE KINASE 3; GUK3 Number Sign 139300 AROMATASE EXCESS SYNDROME; AEXS AROMATASE ACTIVITY, INCREASED GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED;; GYNECOMASTIA, HEREDITARY, INCLUDED Asterisk 139310 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 1; GNAI1 G PROTEIN, ALPHA-INHIBITING 1; Gi;; INHIBITORY G PROTEIN;; ADENYLATE CYCLASE INHIBITORY PROTEIN Asterisk 139311 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE O; GNAO1 Go, ALPHA SUBUNIT;; GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-'OTHER'; GNAO;; G-ALPHA-o Asterisk 139312 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL G-ALPHA-OLF Asterisk 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11 Asterisk 139314 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-15; GNA15 GNA16, FORMERLY Asterisk 139320 GNAS COMPLEX LOCUS; GNAS GNAS1 GENE, FORMERLY; GNAS1, FORMERLY GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1, INCLUDED; GNAS1, INCLUDED;; Gs, ALPHA SUBUNIT, INCLUDED;; STIMULATORY G PROTEIN, INCLUDED;; ADENYLATE CYCLASE STIMULATORY PROTEIN, ALPHA SUBUNIT, INCLUDED;; SECRETOGRANIN VI, INCLUDED;; NEUROENDOCRINE SECRETORY PROTEIN 55, INCLUDED; NESP55, INCLUDED;; XL-ALPHA-S, INCLUDED; XLAS, INCLUDED;; A/B TRANSCRIPT, INCLUDED;; ALTERNATIVE GENE PRODUCT ENCODED BY THE XL EXON, INCLUDED; ALEX, INCLUDED Asterisk 139330 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 1; GNAT1 G PROTEIN, ALPHA-TRANSDUCING 1;; TRANSDUCIN, ROD-SPECIFIC, ALPHA POLYPEPTIDE Asterisk 139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNAT2 G PROTEIN, ALPHA-TRANSDUCING 2;; TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE Asterisk 139350 KERATIN 1, TYPE II; KRT1 K1;; KB1;; CYTOKERATIN 1; CK1 Asterisk 139360 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 2; GNAI2 G PROTEIN, ALPHA-INHIBITING 2B; GNAI2B Asterisk 139370 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-INHIBITING ACTIVITY POLYPEPTIDE 3; GNAI3 G PROTEIN, ALPHA-INHIBITING 3 Asterisk 139380 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1; GNB1 TRANSDUCIN, BETA POLYPEPTIDE Asterisk 139390 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2; GNB2 Asterisk 139391 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNGT2 Asterisk 139392 GUANYLATE CYCLASE ACTIVATOR 2A; GUCA2A GUCA2;; GUANYLIN;; GUANYLIN 2, INTESTINAL Number Sign 139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE; AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC, INCLUDED; CIDP, INCLUDED Asterisk 139395 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 3; GNAT3 GUSTDUCIN, ALPHA POLYPEPTIDE;; GDCA;; GUSTATORY G PROTEIN Asterisk 139396 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-3; GUCY1A3 GUANYLYL CYCLASE, SOLUBLE, ALPHA-3; GUCA3;; GUANYLATE CYCLASE, SOLUBLE, ALPHA-1; GUCY1A1;; GUANYLYL CYCLASE, NITRIC OXIDE-SENSITIVE, ALPHA-1 SUBUNIT;; NITRIC OXIDE-SENSITIVE GUANYLYL CYCLASE, ALPHA-1 SUBUNIT;; NOGC, ALPHA-1 SUBUNIT Asterisk 139397 GUANYLATE CYCLASE 1, SOLUBLE, BETA-3; GUCY1B3 GUANYLYL CYCLASE, SOLUBLE, BETA-3; GUCB3;; GUANYLATE CYCLASE, SOLUBLE, BETA-1; GUCY1B1;; GUANYLYL CYCLASE, NITRIC OXIDE-SENSITIVE, BETA-1 SUBUNIT;; NITRIC OXIDE-SENSITIVE GUANYLYL CYCLASE, BETA-1 SUBUNIT;; NOGC, BETA-1 SUBUNIT NULL 139400 HAIR WHORL COWLICK; CROWN DOUBLE HAIR WHORL, INCLUDED Percent 139450 HAIR MORPHOLOGY 2; HRM2 CURLY HAIR;; HAIR CURVATURE, VARIATION IN NULL 139500 HAIRY EARS HYPERTRICHOSIS PINNAE AURIS Percent 139600 HAIRY ELBOWS HYPERTRICHOSIS CUBITI Asterisk 139605 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 1; HES1 HAIRY, DROSOPHILA, HOMOLOG OF; HRY NULL 139630 HAIRY NOSE TIP Percent 139650 HAIRY PALMS AND SOLES CIRCUMSCRIBED HAIRY DYSEMBRYOPLASIA OF PALMS NULL 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES NULL 139800 HAND CLASPING PATTERN Percent 139900 HAND SKILL, RELATIVE; HSR HANDEDNESS Number Sign 140000 HAND-FOOT-GENITAL SYNDROME; HFG HAND-FOOT-UTERUS SYNDROME; HFU Asterisk 140050 GRANZYME A; GZMA HANUKAH FACTOR SERINE PROTEASE; HFSP;; CYTOLYTIC T CELL- AND NATURAL KILLER CELL-SPECIFIC TRYPSIN-LIKE SERINE PROTEASE;; CYTOTOXIC T-LYMPHOCYTE-ASSOCIATED SERINE ESTERASE 3; CTLA3 Caret 140090 MOVED TO 189903 Asterisk 140100 HAPTOGLOBIN; HP HAPTOGLOBIN, ALPHA POLYPEPTIDE, INCLUDED;; HAPTOGLOBIN, BETA POLYPEPTIDE, INCLUDED;; Bp, INCLUDED Asterisk 140210 HAPTOGLOBIN-RELATED PROTEIN GENE; HPR Percent 140300 HASHIMOTO THYROIDITIS HT;; HASHIMOTO STRUMA;; HYPOTHYROIDISM, AUTOIMMUNE THYROID AUTOANTIBODIES, INCLUDED Caret 140340 MOVED TO 125370 Number Sign 140350 HAWKINSINURIA Percent 140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2 PFHBII NULL 140450 HEART-HAND SYNDROME, SPANISH TYPE NULL 140500 HEART, MALFORMATION OF Asterisk 140550 HEAT-SHOCK 70-KD PROTEIN 1A; HSPA1A HEAT-SHOCK 70-KD PROTEIN 1; HSPA1;; HEAT-SHOCK PROTEIN, 70-KD, 1;; HSP70-1;; HSP70-1A;; HSP72;; HEAT-SHOCK 70-KD PROTEIN, INDUCIBLE; HSP70I Asterisk 140555 HEAT-SHOCK 70-KD PROTEIN 6; HSPA6 HSP70B-PRIME Asterisk 140556 HEAT-SHOCK 70-KD PROTEIN 7; HSPA7 HSP70B Asterisk 140559 HEAT-SHOCK 70-KD PROTEIN-LIKE 1; HSPA1L HEAT-SHOCK PROTEIN, 70-KD, HOMOLOGOUS;; HSP70-HOM;; HSP70-1L;; HSP70T Asterisk 140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2 HEAT-SHOCK PROTEIN, 70-KD, 2;; HSP70-2;; HEAT-SHOCK PROTEIN, 70-KD, 3;; HSP70-3 Caret 140570 MOVED TO 140550 Asterisk 140571 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 1; HSP90AA1 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA, FORMERLY; HSPCA, FORMERLY;; HSPC1;; HSP90A;; HSP89-ALPHA; HSP89A;; HEAT-SHOCK 90-KD PROTEIN 1, ALPHA-LIKE 4; HSPCAL4;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 2; LAP2;; LPS-ASSOCIATED PROTEIN 2 Asterisk 140572 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS B, MEMBER 1; HSP90AB1 HEAT-SHOCK 90-KD PROTEIN 1, BETA, FORMERLY; HSPCB, FORMERLY;; HSPC2;; HSP90B Caret 140573 MOVED TO 140571 Caret 140574 MOVED TO 140571 Asterisk 140575 HEAT-SHOCK PROTEIN, 90-KD, ALPHA, CLASS A, MEMBER 2; HSP90AA2 HEAT-SHOCK 90-KD PROTEIN 1, ALPHA-LIKE 3, FORMERLY; HSPCAL3, FORMERLY Caret 140576 MOVED TO 140571 Asterisk 140580 HEAT-SHOCK TRANSCRIPTION FACTOR 1; HSF1 HEAT-SHOCK FACTOR 1 Asterisk 140581 HEAT-SHOCK TRANSCRIPTION FACTOR 2; HSF2 HEAT-SHOCK FACTOR 2 Number Sign 140600 OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS;; OADIP;; DIPOA;; HAND OSTEOARTHRITIS; HOA HEBERDEN NODES, INCLUDED Number Sign 140700 HEINZ BODY ANEMIAS Asterisk 140750 SUPPRESSOR OF TUMORIGENICITY 5; ST5 HELA TUMOR SUPPRESSION; HTS1 NULL 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE RAPHE, SUPRAUMBILICAL MIDLINE, WITH CAVERNOUS FACIAL HEMANGIOMAS;; STERNAL NONUNION WITH SUPRAUMBILICAL RAPHE NULL 140900 HEMANGIOMAS OF SMALL INTESTINE NULL 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME KASABACH-MERRITT SYNDROME; KMS Asterisk 141180 HEMATOPOIETIC PROTEIN HEM-1; HEM1 Number Sign 141200 HEMATURIA, BENIGN FAMILIAL; BFH THIN-BASEMENT-MEMBRANE NEPHROPATHY;; THIN MEMBRANE NEPHROPATHY; TMN Asterisk 141250 HEME OXYGENASE 1; HMOX1 HEMOXYGENASE 1; HO1;; HEAT SHOCK PROTEIN, 32-KD; HSP32 Asterisk 141251 HEME OXYGENASE 2; HMOX2 HEMOXYGENASE 2 Percent 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA PARRY-ROMBERG SYNDROME Percent 141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS BENCZE SYNDROME Percent 141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS GOLDENHAR SYNDROME WITH IPSILATERAL RADIAL DEFECT;; OCULOAURICULOVERTEBRAL SPECTRUM WITH RADIAL DEFECT;; OAVS WITH RADIAL DEFECT NULL 141405 HEMIFACIAL SPASM, FAMILIAL Number Sign 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 FHM;; MHP1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED;; MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED NULL 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES Number Sign 141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 HEMOGLOBIN F, HEREDITARY PERSISTENCE OF; HPFH;; HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, HB GENE CLUSTER-RELATED DELTA-BETA THALASSEMIA, INCLUDED Number Sign 141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;; ATR-16 SYNDROME;; ATR, DELETION-TYPE;; HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;; MENTAL RETARDATION WITH HEMOGLOBIN H;; CHROMOSOME 16p DELETION SYNDROME Asterisk 141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1 3-PRIME ALPHA-GLOBIN GENE;; MINOR ALPHA-GLOBIN LOCUS Asterisk 141850 HEMOGLOBIN--ALPHA LOCUS 2; HBA2 5-PRIME ALPHA-GLOBIN GENE;; ALPHA-GLOBIN LOCUS, SECOND;; MAJOR ALPHA-GLOBIN LOCUS Asterisk 141860 HEMOGLOBIN--ALPHA LOCUS 3 ALPHA-GLOBIN LOCUS, THIRD Asterisk 141900 HEMOGLOBIN--BETA LOCUS; HBB Caret 141940 MOVED TO 141900 Asterisk 142000 HEMOGLOBIN--DELTA LOCUS; HBD Asterisk 142100 HEMOGLOBIN--EPSILON LOCUS; HBE1 Asterisk 142200 HEMOGLOBIN, GAMMA A; HBG1 HEMOGLOBIN--GAMMA LOCUS, 136 ALANINE Asterisk 142210 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER D; HIST1H1D HISTONE GENE CLUSTER 1, H1D;; HIST1 ClUSTER, H1D;; H1D;; H1.3;; H1 HISTONE FAMILY, MEMBER 3, FORMERLY; H1F3, FORMERLY Asterisk 142220 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER E; HIST1H1E HISTONE GENE CLUSTER 1, H1E;; HIST1 CLUSTER, H1E;; H1E;; H1.4;; H1 HISTONE FAMILY, MEMBER 4, FORMERLY; H1F4, FORMERLY Asterisk 142230 HEMATOPOIETIC PROGENITOR CELL ANTIGEN CD34; CD34 Asterisk 142240 HEMOGLOBIN--THETA-1 LOCUS; HBQ1 Asterisk 142250 HEMOGLOBIN, GAMMA G; HBG2 HEMOGLOBIN--GAMMA LOCUS, 136 GLYCINE Caret 142270 MOVED TO 142200 Asterisk 142290 HEMOPEXIN; HPX Caret 142300 MOVED TO 142310 Number Sign 142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN Asterisk 142310 HEMOGLOBIN--ZETA LOCUS; HBZ HEMOGLOBIN ZETA;; 5-PRIME ZETA LOCUS;; HEMOGLOBIN ZETA-2, FORMERLY; HBZ2, FORMERLY Number Sign 142330 HEPATIC ADENOMAS, FAMILIAL LIVER CELL ADENOMAS, FAMILIAL Caret 142333 MOVED TO 114550 Percent 142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5 Percent 142340 DIAPHRAGMATIC HERNIA, CONGENITAL DIH;; HERNIA, CONGENITAL DIAPHRAGMATIC; HCD; CDH;; DIAPHRAGMATIC DEFECT, CONGENITAL;; DIAPHRAGM, UNILATERAL AGENESIS OF;; HEMIDIAPHRAGM, AGENESIS OF DIAPHRAGMATIC HERNIA 1, INCLUDED; DIH1, INCLUDED;; DIAPHRAGM, COMPLETE AGENESIS OF, INCLUDED NULL 142350 HERNIA, DOUBLE INGUINAL Asterisk 142360 HEPARIN COFACTOR II; HCF2 LEUSERPIN 2; LS2;; SERPIND1 Asterisk 142370 HEMOPOIETIC CELL KINASE; HCK Caret 142380 MOVED TO 114550 Asterisk 142385 HEPATIC LEUKEMIA FACTOR; HLF HLF/E2A FUSION GENE, INCLUDED Asterisk 142390 HEPATIC PROTEIN; HEP10 Number Sign 142395 HEPATITIS B VACCINE, RESPONSE TO HBV VACCINE, RESPONSE TO Percent 142400 HERNIA, HIATUS HIATAL HERNIA Asterisk 142408 MACROPHAGE STIMULATING 1; MST1 HEPATOCYTE GROWTH FACTOR-LIKE PROTEIN; HGFL;; MACROPHAGE STIMULATING PROTEIN; MSP Asterisk 142409 HEPATOCYTE GROWTH FACTOR; HGF SCATTER FACTOR; SF;; LUNG FIBROBLAST-DERIVED MITOGEN;; HEPATOPOIETIN A Asterisk 142410 HNF1 HOMEOBOX A; HNF1A TRANSCRIPTION FACTOR 1; TCF1;; HEPATOCYTE NUCLEAR FACTOR-1-ALPHA;; HEPATOCYTE NUCLEAR FACTOR 1; HNF1;; HEPATIC NUCLEAR FACTOR-1-ALPHA;; ALBUMIN PROXIMAL FACTOR Caret 142420 REMOVED FROM DATABASE Asterisk 142440 HEPSIN; HPN TRANSMEMBRANE PROTEASE, SERINE 1; TMPRSS1 Asterisk 142445 NEUREGULIN 1; NRG1 HEREGULIN, ALPHA; HGL; HRGA;; NEU DIFFERENTIATION FACTOR; NDF;; ACETYLCHOLINE RECEPTOR-INDUCING ACTIVITY, CHICK, HOMOLOG OF; ARIA GLIAL GROWTH FACTOR 2, INCLUDED; GGF2, INCLUDED;; SENSORY AND MOTOR NEURON-DERIVED FACTOR, INCLUDED; SMDF, INCLUDED Caret 142450 MOVED TO 600644 Asterisk 142460 SYNDECAN 2; SDC2 SYND2;; HEPARAN SULFATE PROTEOGLYCAN; HSPG;; HSPG1;; FIBROGLYCAN Asterisk 142461 HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE; HSPG2 PERLECAN; PLC Percent 142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2 NULL 142500 HETEROCHROMIA IRIDIS Caret 142510 MOVED TO 300049 Caret 142550 MOVED TO 142600 Asterisk 142560 DEAD BOX POLYPEPTIDE 39B; DDX39B HLA-B-ASSOCIATED TRANSCRIPT 1; BAT1;; U2AF65-ASSOCIATED PROTEIN, 56-KD; UAP56;; D6S81E Asterisk 142570 HEXOKINASE 3; HK3 HEXOKINASE, WHITE CELL Asterisk 142580 PROLINE-RICH COILED-COIL PROTEIN 2A; PRRC2A HLA-B-ASSOCIATED TRANSCRIPT 2; BAT2;; D6S51E Asterisk 142590 BCL2-ASSOCIATED ATHANOGENE 6; BAG6 SCYTHE, XENOPUS, HOMOLOG OF;; HLA-B-ASSOCIATED TRANSCRIPT 3; BAT3;; D6S52E Asterisk 142600 HEXOKINASE 1; HK1 Asterisk 142610 G-PATCH DOMAIN- AND ANKYRIN REPEATS-CONTAINING PROTEIN 1; GPANK1 HLA-B-ASSOCIATED TRANSCRIPT 4; BAT4;; D6S54E Asterisk 142620 ABHYDROLASE DOMAIN-CONTAINING 16A; ABHD16A HLA-B-ASSOCIATED TRANSCRIPT 5; BAT5;; D6S82E Asterisk 142622 HIPPOCALCIN; HPCA Number Sign 142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 HIRSCHSPRUNG DISEASE; HSCR;; AGANGLIONIC MEGACOLON;; MEGACOLON, AGANGLIONIC; MGC HIRSCHSPRUNG DISEASE, PROTECTION AGAINST, INCLUDED NULL 142625 HIRSUTISM, SKELETAL DYSPLASIA, AND MENTAL RETARDATION NULL 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS Asterisk 142640 HISTIDINE-RICH GLYCOPROTEIN; HRG HRGP NULL 142660 HEXOSAMINIDASE C; HEXC Number Sign 142669 BEUKES HIP DYSPLASIA; BHD HIP DYSPLASIA, BEUKES TYPE;; BEUKES FAMILIAL HIP DYSPLASIA; BFHD;; OSTEOARTHROPATHY, PREMATURE DEGENERATIVE, OF HIP Number Sign 142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT FPF;; HIBERNIAN FEVER, FAMILIAL; FHF;; FAMILIAL HIBERNIAN FEVER;; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME; TRAPS;; TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME Number Sign 142690 ACNE INVERSA, FAMILIAL, 1; ACNINV1 ACNE INVERSA, FAMILIAL;; HIDRADENITIS SUPPURATIVA, FAMILIAL Asterisk 142695 HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN; HDLBP VIGILIN; VGL Percent 142700 DEVELOPMENTAL DYSPLASIA OF THE HIP 1; DDH1 HIP DYSPLASIA, DEVELOPMENTAL; DDH;; HIP DYSPLASIA, CONGENITAL; CDH;; ACETABULAR DYSPLASIA Asterisk 142701 HISTATIN 1; HTN1 HIS1 PAROTID BASIC PROTEIN, POST-, INCLUDED;; POST-PB PROTEIN, INCLUDED; PPB, INCLUDED Asterisk 142702 HISTATIN 3; HTN3 HISTATIN 2; HTN2; HIS2 HISTATIN 5, INCLUDED; HTN5, INCLUDED;; PB, INCLUDED Asterisk 142703 HISTAMINE RECEPTOR H2; HRH2 Asterisk 142704 HISTIDINE DECARBOXYLASE; HDC Asterisk 142705 HISTIDINE-RICH CALCIUM-BINDING PROTEIN; HRC Asterisk 142708 H1 HISTONE FAMILY, MEMBER 0; H1F0 H1.0;; H1-0 HISTONE;; H1FV Asterisk 142709 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER A; HIST1H1A HISTONE GENE CLUSTER 1, H1A;; HIST1 CLUSTER, H1A;; H1A;; H1.1;; H1 HISTONE FAMILY, MEMBER 1, FORMERLY; H1F1, FORMERLY Asterisk 142710 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER C; HIST1H1C HISTONE GENE CLUSTER 1, H1C;; HIST1 CLUSTER, H1C;; H1C;; H1.2;; H1 HISTONE FAMILY, MEMBER 2, FORMERLY; H1F2; FORMERLY Asterisk 142711 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER B; HIST1H1B HISTONE GENE CLUSTER 1, H1B;; HIST1 CLUSTER, H1B;; H1B;; H1.5;; H1 HISTONE FAMILY, MEMBER 5, FORMERLY; H1F5, FORMERLY Asterisk 142712 HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, MEMBER T; HIST1H1T HISTONE GENE CLUSTER 1, H1 HISTONE FAMILY, TESTIS-SPECIFIC MEMBER;; HISTONE GENE CLUSTER 1, H1T;; HIST1 CLUSTER, H1T;; H1T;; H1.T;; H1 HISTONE, TESTIS-SPECIFIC;; H1 HISTONE FAMILY, MEMBER T, FORMERLY; H1FT, FORMERLY Asterisk 142720 HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER A3; HIST2H2AA3 HISTONE GENE CLUSTER 2, H2AA3;; HIST2 CLUSTER, H2AA3;; H2A HISTONE FAMILY, MEMBER O; H2AFO;; H2A/O;; H2A.2;; HIST2H2AA NULL 142730 HISTIOCYTIC DERMATOARTHRITIS Asterisk 142750 HISTONE GENE CLUSTER 2, H4 HISTONE FAMILY, MEMBER A; HIST2H4A HISTONE GENE CLUSTER 2, H4A;; HIST2 CLUSTER, H4A;; HIST2H4;; H4 HISTONE FAMILY, MEMBER N; H4FN;; H4 HISTONE, FAMILY 2; H4F2 Caret 142760 MOVED TO 142720 Asterisk 142763 H2A HISTONE FAMILY, MEMBER Z; H2AFZ H2AZ HISTONE;; H2AZ Asterisk 142765 REGULATORY FACTOR X, 2; RFX2 HLA CLASS II REGULATORY FACTOR RFX2 NULL 142770 HLA MODIFIER Asterisk 142780 HISTONE GENE CLUSTER 2, H3 HISTONE FAMILY, MEMBER C; HIST2H3C HISTONE GENE CLUSTER 2, H3C;; HIST2 CLUSTER, H3C;; H3 HISTONE, FAMILY 2; H3F2;; H3 HISTONE FAMILY, MEMBER N; H3FN;; H3 HISTONE FAMILY, MEMBER M; H3FM;; H3/M;; H3.2 Asterisk 142790 CD74 ANTIGEN; CD74 INVARIANT POLYPEPTIDE OF MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II ANTIGEN-ASSOCIATED;; HLA-DR-GAMMA; DHLAG; HLADG;; Ia-GAMMA;; Ia-ASSOCIATED INVARIANT CHAIN;; HISTOCOMPATIBILITY: CLASS II ANTIGENS, GAMMA CHAIN OF;; INVARIANT CHAIN; II Asterisk 142795 HLA-8 HISTOCOMPATIBILITY TYPE; HLA8 Asterisk 142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A HLA-A HISTOCOMPATIBILITY TYPE MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, H PSEUDOGENE, INCLUDED; HLA-H, INCLUDED;; MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, J PSEUDOGENE, INCLUDED; HLA-J, INCLUDED Asterisk 142810 HISTIDYL-tRNA SYNTHETASE; HARS HRS;; HISRS Plus 142830 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, B; HLA-B HLA-B HISTOCOMPATIBILITY TYPE ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO, INCLUDED;; SYNOVITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED;; DRUG-INDUCED LIVER INJURY DUE TO FLUCLOXACILLIN, INCLUDED Asterisk 142840 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, C; HLA-C HLA-C HISTOCOMPATIBILITY TYPE Caret 142850 MOVED TO 142860 Asterisk 142855 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM ALPHA; HLA-DMA HLA-DM HISTOCOMPATIBILITY TYPE, ALPHA CHAIN;; HLADM;; RING6 Asterisk 142856 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DM BETA; HLA-DMB HLA-DM HISTOCOMPATIBILITY TYPE, BETA CHAIN;; HLADMB;; RING7 Asterisk 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1 Asterisk 142858 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP BETA-1; HLA-DPB1 HLA-DP HISTOCOMPATIBILITY TYPE, BETA-1 SUBUNIT Asterisk 142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA HLA-DRA1;; HLA-DR HISTOCOMPATIBILITY TYPE;; HLA-D HISTOCOMPATIBILITY TYPE Caret 142870 REMOVED FROM DATABASE Asterisk 142871 HLA-G HISTOCOMPATIBILITY ANTIGEN, CLASS I; HLA-G HLA-6.0; HLA60;; T-CELL A LOCUS; TCA Asterisk 142880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DP ALPHA-1; HLA-DPA1 HLA-DP;; HLA-SB HISTOCOMPATIBILITY TYPE; HLA-SB Asterisk 142890 HLA-MT HISTOCOMPATIBILITY TYPE; HLA-MT Number Sign 142900 HOLT-ORAM SYNDROME; HOS HOS1;; HEART-HAND SYNDROME;; ATRIODIGITAL DYSPLASIA Plus 142910 3-HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR HMG-CoA REDUCTASE LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3, INCLUDED; LDLCQ3, INCLUDED;; STATINS, ATTENUATED CHOLESTEROL LOWERING BY, INCLUDED Asterisk 142920 HLA-DO HISTOCOMPATIBILITY TYPE; HLA-DO Caret 142925 MOVED TO 142800 Asterisk 142930 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DN ALPHA; HLA-DNA HLA-DZ HISTOCOMPATIBILITY TYPE; HLADZ Asterisk 142940 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 1; HMGCS1 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, SOLUBLE;; HMG-CoA SYNTHASE, CYTOSOLIC; HMGCS Number Sign 142945 HOLOPROSENCEPHALY 3; HPE3 HLP3 Number Sign 142946 HOLOPROSENCEPHALY 4; HPE4 Asterisk 142950 HOMEOBOX A7; HOXA7 HOMEOBOX 1A; HOX1A;; Hox-1.1, MOUSE, HOMOLOG OF;; Antp, DROSOPHILA, HOMOLOG OF Asterisk 142951 HOMEOBOX A6; HOXA6 HOMEOBOX 1B; HOX1B;; Hox-1.2, MOUSE, HOMOLOG OF Asterisk 142952 HOMEOBOX A5; HOXA5 HOMEOBOX 1C; HOX1C;; Hox-1.3, MOUSE, HOMOLOG OF Asterisk 142953 HOMEOBOX A4; HOXA4 HOMEOBOX 1D; HOX1D;; Hox-1.4, MOUSE, HOMOLOG OF;; Dfd, DROSOPHILA, HOMOLOG OF Asterisk 142954 HOMEOBOX A3; HOXA3 HOMEOBOX 1E; HOX1E;; Hox-1.5, MOUSE, HOMOLOG OF Asterisk 142955 HOMEOBOX A1; HOXA1 HOMEOBOX 1F; HOX1F;; Hox-1.6, MOUSE, HOMOLOG OF;; lab, DROSOPHILA, HOMOLOG OF Asterisk 142956 HOMEOBOX A9; HOXA9 HOMEOBOX 1G; HOX1G;; Hox-1.7, MOUSE, HOMOLOG OF;; Abd-B, DROSOPHILA, HOMOLOG OF HOXA9/NUP98 FUSION GENE, INCLUDED;; HOXA9/MSI2 FUSION GENE, INCLUDED Asterisk 142957 HOMEOBOX A10; HOXA10 HOMEOBOX 1H; HOX1H Asterisk 142958 HOMEOBOX A11; HOXA11 HOMEOBOX 1I; HOX1I Asterisk 142959 HOMEOBOX A13; HOXA13 HOMEOBOX 1J; HOX1J Asterisk 142960 HOMEOBOX B5; HOXB5 HOMEOBOX 2A; HOX2A;; Hox2.1, MOUSE, HOMOLOG OF Asterisk 142961 HOMEOBOX B6; HOXB6 HOMEOBOX 2B; HOX2B;; Hox-2.2, MOUSE, HOMOLOG OF Asterisk 142962 HOMEOBOX B7; HOXB7 HOMEOBOX 2C; HOX2C;; Hox-2.3, MOUSE, HOMOLOG OF Asterisk 142963 HOMEOBOX B8; HOXB8 HOMEOBOX 2D; HOX2D;; Hox-2.4, MOUSE, HOMOLOG OF Asterisk 142964 HOMEOBOX B9; HOXB9 HOMEOBOX 2E; HOX2E;; Hox-2.5, MOUSE, HOMOLOG OF Asterisk 142965 HOMEOBOX B4; HOXB4 HOMEOBOX 2F; HOX2F;; Hox-2.6, MOUSE, HOMOLOG OF Asterisk 142966 HOMEOBOX B3; HOXB3 HOMEOBOX 2G; HOX2G;; Hox-2.7, MOUSE, HOMOLOG OF Asterisk 142967 HOMEOBOX B2; HOXB2 HOMEOBOX 2H; HOX2H;; Hox-2.8, MOUSE, HOMOLOG OF Asterisk 142968 HOMEOBOX B1; HOXB1 HOMEOBOX 2I; HOX2I;; Hox-2.9, MOUSE, HOMOLOG OF Asterisk 142970 HOMEOBOX C8; HOXC8 HOMEOBOX 3A; HOX3A;; Hox-3.1, MOUSE, HOMOLOG OF Asterisk 142971 HOMEOBOX C9; HOXC9 HOMEOBOX 3B; HOX3B;; Hox-3.2, MOUSE, HOMOLOG OF Asterisk 142972 HOMEOBOX C6; HOXC6 HOMEOBOX 3C; HOX3C;; Hox-6.1, MOUSE, HOMOLOG OF Asterisk 142973 HOMEOBOX C5; HOXC5 HOMEOBOX 3D; HOX3D;; Hox-6.2, MOUSE, HOMOLOG OF Asterisk 142974 HOMEOBOX C4; HOXC4 HOMEOBOX 3E; HOX3E Asterisk 142975 HOMEOBOX C12; HOXC12 HOMEOBOX 3F; HOX3F Asterisk 142976 HOMEOBOX C13; HOXC13 HOMEOBOX 3G; HOX3G HOXC13/NUP98 FUSION GENE, INCLUDED Asterisk 142980 HOMEOBOX D3; HOXD3 HOMEOBOX 4A; HOX4A;; Hox-4.1, MOUSE, HOMOLOG OF Asterisk 142981 HOMEOBOX D4; HOXD4 HOMEOBOX 4B; HOX4B;; Hox-4.2, MOUSE, HOMOLOG OF;; HOMEOBOX X Asterisk 142982 HOMEOBOX D9; HOXD9 HOMEOBOX 4C; HOX4C;; Hox-4.3, MOUSE, HOMOLOG OF Asterisk 142983 MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; MSX1 MSH, DROSOPHILA, HOMOLOG OF, 1;; HOMEOBOX 7; HOX7 Asterisk 142984 HOMEOBOX D10; HOXD10 HOMEOBOX 4D; HOX4D;; Hox-4.4, MOUSE, HOMOLOG OF Asterisk 142985 HOMEOBOX D8; HOXD8 HOMEOBOX 4E; HOX4E;; Hox-4.5, MOUSE, HOMOLOG OF Asterisk 142986 HOMEOBOX D11; HOXD11 HOMEOBOX 4F; HOX4F;; Hox-4.6, MOUSE, HOMOLOG OF HOXD11/NUP98 FUSION GENE, INCLUDED Asterisk 142987 HOMEOBOX D1; HOXD1 HOMEOBOX 4G; HOX4G;; Hox-4.7, MOUSE, HOMOLOG OF Asterisk 142988 HOMEOBOX D12; HOXD12 HOMEOBOX 4H; HOX4H Asterisk 142989 HOMEOBOX D13; HOXD13 HOMEOBOX 4I; HOX4I Caret 142990 MOVED TO 142981 Asterisk 142991 EVEN-SKIPPED HOMEOBOX 2; EVX2 HOMEOBOX EVX-2 Asterisk 142992 H6 FAMILY HOMEOBOX 1; HMX1 HOMEOBOX GENE H6; H6;; NKX5.3 Asterisk 142993 VISUAL SYSTEM HOMEOBOX 2; VSX2 HOMEOBOX 10; HOX10;; CEH10 HOMEODOMAIN-CONTAINING HOMOLOG; CHX10 Asterisk 142994 MOTOR NEURON AND PANCREAS HOMEOBOX 1; MNX1 HOMEOBOX GENE HB9; HLXB9;; HB9 Asterisk 142995 H.20-LIKE HOMEOBOX 1; HLX1 H.20, DROSOPHILA, HOMOLOG OF;; HOMEOBOX GENE HB24 Asterisk 142996 EVEN-SKIPPED HOMEOBOX 1; EVX1 HOMEOBOX EVX-1 Percent 143000 HORNER SYNDROME, CONGENITAL Asterisk 143010 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, E; HLA-E HLAE;; HLA-E HISTOCOMPATIBILITY TYPE;; HLA-6.2;; QA1, MOUSE, HOMOLOG OF; QA1 NULL 143020 HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1 RESTRICTION FRAGMENT LENGTH POLYMORPHISM, SICKLE CELL ANEMIA-RELATED Asterisk 143023 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 7; RASSF7 CHROMOSOME 11 OPEN READING FRAME 13; C11ORF13;; HRAS1-RELATED CLUSTER 1; HRC1 Asterisk 143024 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 1; GNL1 HSR1 GTP-BINDING PROTEIN; HSR1 Asterisk 143025 HTLV-RELATED ENDOGENOUS SEQUENCE 1; HRES1 Asterisk 143030 CD9 ANTIGEN; CD9 LEUKOCYTE ANTIGEN MIC3; MIC3;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY 602-29 Asterisk 143040 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY F10.44.2 HUMAN LEUKOCYTE ANTIGEN MIC4; MIC4 NULL 143050 HUMERORADIAL SYNOSTOSIS Asterisk 143054 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 2; HIVEP2 ZAS FAMILY, MEMBER 2; ZAS2;; MAJOR HISTOCOMPATIBILITY COMPLEX-BINDING PROTEIN 2; MBP2;; SCHNURRI, DROSOPHILA, HOMOLOG OF, 2; SHN2;; SCHNURRI 2;; MIBP1 Asterisk 143055 CYCLIN T1; CCNT1 CYCLIN T; CCNT;; CYCLIN C-RELATED PROTEIN;; CDK9-ASSOCIATED C-TYPE CYCLIN Asterisk 143060 HUMAN LEUKOCYTE ANTIGEN MIC6; MIC6 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY H207 Caret 143065 MOVED TO 107271 Caret 143070 REMOVED FROM DATABASE Caret 143080 REMOVED FROM DATABASE Asterisk 143089 HUMAN T-CELL LEUKEMIA VIRUS ENHANCER FACTOR; HTLF Caret 143090 MOVED TO 138140 Number Sign 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD HUMEROSPINAL DYSOSTOSIS; HSD;; SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE;; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS; CDMD Number Sign 143100 HUNTINGTON DISEASE; HD HUNTINGTON CHOREA Asterisk 143110 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, F; HLA-F HLA-F HISTOCOMPATIBILITY TYPE;; cda12 CLASS I GENE;; HLA-CDA12;; HLA-5.4 Caret 143150 MOVED TO 426000 Asterisk 143170 MALE-ENHANCED ANTIGEN 1; MEA1 MEA Number Sign 143200 WAGNER VITREORETINOPATHY; WGVRP EROSIVE VITREORETINOPATHY; ERVR;; WAGNER VITREORETINAL DEGENERATION;; HYALOIDEORETINAL DEGENERATION OF WAGNER;; WAGNER SYNDROME 1; WGN1 Number Sign 143400 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2; CAKUT2 URETEROPELVIC JUNCTION OBSTRUCTION; UPJO;; PELVIURETERIC JUNCTION OBSTRUCTION; PUJO;; HYDRONEPHROSIS DUE TO PUJO;; MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MCRD Asterisk 143450 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT; HADHB TRIFUNCTIONAL PROTEIN, BETA SUBUNIT;; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, BETA SUBUNIT;; ECHB NULL 143460 5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR; HTOR Number Sign 143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD HYPERACTIVITY OF CHILDHOOD Number Sign 143470 HYPERALPHALIPOPROTEINEMIA 1; HALP1 CHOLESTEROL ESTER TRANSFER PROTEIN DEFICIENCY;; CETP DEFICIENCY HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10, INCLUDED;; HDLCQ10, INCLUDED Number Sign 143500 GILBERT SYNDROME HYPERBILIRUBINEMIA, GILBERT TYPE; HBLRG;; HYPERBILIRUBINEMIA, ARIAS TYPE;; HYPERBILIRUBINEMIA I Percent 143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE OHDS;; ORTHOSTATIC HYPOTENSIVE DISORDER;; HYPERBRADYKININISM Number Sign 143860 HYPERCHLORHIDROSIS, ISOLATED; HYCHL Number Sign 143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2 HYPERCALCIURIA, FAMILIAL IDIOPATHIC Number Sign 143880 HYPERCALCEMIA, INFANTILE, 1; HCINF1 HYPERCALCEMIA, IDIOPATHIC, OF INFANCY Number Sign 143890 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1 FHC; FH;; HYPERLIPOPROTEINEMIA, TYPE II;; HYPERLIPOPROTEINEMIA, TYPE IIA;; HYPER-LOW-DENSITY-LIPOPROTEINEMIA;; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL;; LDL RECEPTOR DISORDER LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2, INCLUDED; LDLCQ2, INCLUDED Number Sign 144010 HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B;; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE;; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B;; APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE NULL 144020 HYPERCHOLESTEROLEMIA SUPPRESSOR NULL 144050 HYPERHEPARINEMIA NULL 144100 HYPERHIDROSIS, GUSTATORY; HYPRG GUSTATORY SWEATING;; FREY SYNDROME;; AURICULOTEMPORAL NERVE SYNDROME Percent 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS; HYPRPP HYPERHIDROSIS, PRIMARY PALMAR NULL 144120 HYPERIMMUNOGLOBULIN G1(A1) SYNDROME Percent 144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP FLEGEL DISEASE NULL 144190 HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME Number Sign 144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK PPKE;; KERATODERMA, EPIDERMOLYTIC PALMOPLANTAR;; PALMOPLANTAR KERATODERMA, VORNER TYPE;; HYPERKERATOSIS, LOCALIZED EPIDERMOLYTIC;; KERATOSIS PALMARIS ET PLANTARIS FAMILIARIS;; TYLOSIS;; KERATOSIS OF GREITHER PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED Number Sign 144250 HYPERLIPIDEMIA, FAMILIAL COMBINED, 3; FCHL3 FAMILIAL COMBINED HYPERLIPIDEMIA NULL 144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS Caret 144400 MOVED TO 143890 NULL 144600 HYPERLIPOPROTEINEMIA, TYPE IV CARBOHYDRATE-INDUCIBLE HYPERLIPEMIA Number Sign 144650 HYPERLIPOPROTEINEMIA, TYPE V HYPERLIPIDEMIA, TYPE V;; HYPERCHYLOMICRONEMIA, LATE-ONSET;; HYPERCHYLOMICRONEMIA WITH HYPERPREBETALIPOPROTEINEMIA, FAMILIAL;; HYPERLIPEMIA, MIXED;; HYPERLIPEMIA, COMBINED FAT AND CARBOHYDRATE-INDUCED Number Sign 144700 RENAL CELL CARCINOMA, NONPAPILLARY; RCC HYPERNEPHROMA;; ADENOCARCINOMA OF KIDNEY NONPAPILLARY RENAL CARCINOMA 1 LOCUS, INCLUDED; NRC1, INCLUDED Number Sign 144750 ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS;; OSTEOSCLEROSIS, AUTOSOMAL DOMINANT Number Sign 144755 HYPEROSTOSIS CRANIALIS INTERNA; HCIN NULL 144800 HYPEROSTOSIS FRONTALIS INTERNA MORGAGNI-STEWART-MOREL SYNDROME Number Sign 145000 HYPERPARATHYROIDISM 1; HRPT1 HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY; FIHP PARATHYROID ADENOMA, FAMILIAL, INCLUDED Number Sign 145001 HYPERPARATHYROIDISM 2 WITH JAW TUMORS; HRPT2 HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS;; HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY; HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC, INCLUDED Percent 145100 HYPERPIGMENTATION OF EYELIDS NULL 145200 HYPERPIGMENTATION OF FULDAUER AND KUIJPERS Number Sign 145250 HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH MELANOSIS UNIVERSALIS HEREDITARIA; MUH;; HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2, FORMERLY; FPH2, FORMERLY Percent 145260 PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL;; HYPERTENSIVE HYPERKALEMIA, FAMILIAL;; GORDON HYPERKALEMIA-HYPERTENSION SYNDROME NULL 145270 HYPERPROGLUCAGONEMIA GLUCAGON, LARGE MOLECULAR WEIGHT SPECIES OF NULL 145290 HYPERREFLEXIA; HRX NULL 145295 HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL NULL 145300 HYPERSENSITIVITY PNEUMONITIS, FAMILIAL NULL 145350 HYPERTAURINURIC CARDIOMYOPATHY Percent 145400 HYPERTELORISM Number Sign 145410 OPITZ GBBB SYNDROME, TYPE II; GBBB2 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT;; HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS;; G SYNDROME;; HYPOSPADIAS-DYSPHAGIA SYNDROME;; OPITZ-FRIAS SYNDROME;; OPITZ-G SYNDROME, TYPE II; OGS2;; TELECANTHUS WITH ASSOCIATED ABNORMALITIES;; BBB SYNDROME;; HYPERTELORISM-HYPOSPADIAS SYNDROME;; TELECANTHUS-HYPOSPADIAS SYNDROME;; OPITZ BBBG SYNDROME;; GBBB SYNDROME;; OPITZ OCULOGENITOLARYNGEAL SYNDROME, TYPE II;; CHROMOSOME 22q11.2 DELETION SYNDROME, OPITZ PHENOTYPE Number Sign 145420 HYPERTELORISM, TEEBI TYPE; TBHS BRACHYCEPHALOFRONTONASAL DYSPLASIA Number Sign 145500 HYPERTENSION, ESSENTIAL EHT Asterisk 145505 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 3; ACSM3 SA, RAT, HOMOLOG OF; SA; SAH NULL 145590 HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA FARMER SYNDROME Number Sign 145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 MHS;; HYPERTHERMIA OF ANESTHESIA;; HYPERPYREXIA, MALIGNANT; MH KING SYNDROME, INCLUDED;; KING-DENBOROUGH SYNDROME, INCLUDED Number Sign 145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION Number Sign 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH HYPERTHYROXINEMIA, DYSPREALBUMINEMIC;; DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA;; EUTHRYROIDAL HYPERTHYROXINEMIA 2 Percent 145700 HYPERTRICHOSIS LANUGINOSA CONGENITA HYPERTRICHOSIS UNIVERSALIS Percent 145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 AMBRAS SYNDROME;; HYPERTRICHOSIS, CONGENITAL GENERALIZED Number Sign 145750 HYPERTRIGLYCERIDEMIA, FAMILIAL Percent 145800 HYPERTROPHIA MUSCULORUM VERA Number Sign 145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS DEJERINE-SOTTAS SYNDROME; DSS;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 3; CMT3;; HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN3;; DEJERINE-SOTTAS NEUROPATHY; DSN Number Sign 145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 HHC; FHH;; FHH1;; FAMILIAL BENIGN HYPERCALCEMIA 1; FBH1;; HYPERCALCEMIA, FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA, ACQUIRED, INCLUDED Number Sign 145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2 FAMILIAL BENIGN HYPERCALCEMIA, TYPE II; FBH2;; HYPERCALCEMIA, FAMILIAL BENIGN, TYPE II Number Sign 146000 HYPOCHONDROPLASIA; HCH Number Sign 146110 HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 HYPOGONADISM, ISOLATED HYPOGONADOTROPIC;; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; IHH Caret 146150 MOVED TO 300337 NULL 146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES LIMB-UTERUS SYNDROME Number Sign 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED Number Sign 146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME; HDRS;; BARAKAT SYNDROME;; NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM Number Sign 146300 HYPOPHOSPHATASIA, ADULT HYPOPHOSPHATASIA, MILD ODONTOHYPOPHOSPHATASIA, INCLUDED Percent 146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD Number Sign 146390 CHROMOSOME 18p DELETION SYNDROME 18p- SYNDROME Caret 146400 MOVED TO 125400 Percent 146450 HYPOSPADIAS 3, AUTOSOMAL; HYSP3 Number Sign 146500 MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 MSA1, SUSCEPTIBILITY TO AUTONOMIC FAILURE, PURE, INCLUDED;; HYPOTENSION, ORTHOSTATIC, INCLUDED Number Sign 146510 PALLISTER-HALL SYNDROME; PHS HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY Number Sign 146520 HYPOTRICHOSIS 2; HYPT2 HYPOTRICHOSIS SIMPLEX OF THE SCALP 1; HTSS1;; HTSS;; HYPOTRICHOSIS, SPANISH TYPE Caret 146530 MOVED TO 301845 Number Sign 146550 HYPOTRICHOSIS 4; HYPT4 MARIE UNNA HEREDITARY HYPOTRICHOSIS 1; MUHH1;; HYPOTRICHOSIS, MARIE UNNA TYPE, 1 NULL 146580 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE SUPPRESSOR Number Sign 146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM NULL 146600 ICHTHYOSIS HYSTRIX GRAVIOR ICHTHYOSIS, LAMBERT TYPE;; PORCUPINE MAN Asterisk 146630 INTERCELLULAR ADHESION MOLECULE 2; ICAM2 Asterisk 146631 INTERCELLULAR ADHESION MOLECULE 3; ICAM3 Asterisk 146640 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 2; ITIH2 Asterisk 146650 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 3; ITIH3 Asterisk 146660 INTERLEUKIN 7; IL7 Asterisk 146661 INTERLEUKIN 7 RECEPTOR; IL7R INTERLEUKIN 7 RECEPTOR-ALPHA;; IL7R-ALPHA; IL7RA;; CD127 Asterisk 146680 INSULIN-DEGRADING ENZYME; IDE INSULYSIN;; INSULINASE Asterisk 146690 IMP DEHYDROGENASE 1; IMPDH1 INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE I; IMPD1;; IMPD IMP DEHYDROGENASE-LIKE 1, INCLUDED; IMPDHL1, INCLUDED Asterisk 146691 IMP DEHYDROGENASE 2; IMPDH2 INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE II; IMPD2; IMPDHII Caret 146692 MOVED TO 146690 Number Sign 146700 ICHTHYOSIS VULGARIS ICHTHYOSIS SIMPLEX Asterisk 146710 INTERLEUKIN 2 RECEPTOR, BETA; IL2RB CD122 ANTIGEN; CD122 NULL 146720 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME ICE SYNDROME Asterisk 146730 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 1; IGFBP1 IBP1;; PLACENTAL PROTEIN 12;; IGF-BP25 Asterisk 146731 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 2; IGFBP2 IBP2;; IGF-BP53 Asterisk 146732 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 3; IGFBP3 IBP3 Asterisk 146733 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 4; IGFBP4 IBP4 Asterisk 146734 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 5; IGFBP5 IBP5 Asterisk 146735 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 6; IGFBP6 IBP6 Asterisk 146738 INSULIN-LIKE 3; INSL3 INSULIN-LIKE PEPTIDE, LEYDIG CELL-SPECIFIC;; RELAXIN-LIKE FACTOR; RLF Asterisk 146740 Fc FRAGMENT OF IgG, LOW AFFINITY IIIa, RECEPTOR FOR; FCGR3A IMMUNOGLOBULIN G Fc RECEPTOR III-2;; FCRIII-2;; CD16A NULL 146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT LAMELLAR ICHTHYOSIS, AUTOSOMAL DOMINANT Asterisk 146760 Fc FRAGMENT OF IgG, HIGH AFFINITY Ia, RECEPTOR FOR; FCGR1A IMMUNOGLOBULIN G Fc RECEPTOR I; IGFR1;; CD64 Asterisk 146770 IMMUNOGLOBULIN LAMBDA-LIKE POLYPEPTIDE 1; IGLL1 IGLL;; IMMUNOGLOBULIN OMEGA POLYPEPTIDE CHAIN; IGO;; LAMBDA-5, MOUSE, HOMOLOG OF;; IGL5, MOUSE, HOMOLOG OF Caret 146771 MOVED TO 146770 Asterisk 146780 IMMUNOGLOBULIN KAPPA DELETING ELEMENT; IGKDEL Asterisk 146790 Fc FRAGMENT OF IgG, LOW AFFINITY IIa, RECEPTOR FOR; FCGR2A FCG2;; IMMUNOGLOBULIN G Fc RECEPTOR II; FcGR; IGFR2;; CDw32;; CD32 Number Sign 146800 ICHTHYOSIS BULLOSA OF SIEMENS; IBS ICHTHYOSIS, BULLOUS TYPE ICHTHYOSIS EXFOLIATIVA, INCLUDED NULL 146810 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRPHEGAL; IPHEG NULL 146820 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT; IGAT NULL 146830 IMMUNE DEFICIENCY, FAMILIAL VARIABLE NULL 146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST NULL 146850 IMMUNE SUPPRESSION; IS STREPTOCOCCAL CELL WALL ANTIGEN, SUPPRESSION OF IMMUNE RESPONSE TO; ISSCW;; ISCW Asterisk 146880 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-1; HLA-DQA1 HLA-DQA;; HLADC HISTOCOMPATIBILITY TYPE; HLA-DQ IMMUNE RESPONSE ANTIGENS HIa, INCLUDED;; DC1, INCLUDED Asterisk 146900 IgA CONSTANT HEAVY CHAIN 1; IGHA1 IMMUNOGLOBULIN Am1 Asterisk 146910 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE CLUSTER; IGHD@ IGHD GENE CLUSTER; IGHD;; IGD1;; IGHDY1 Asterisk 146920 ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR ADENOSINE DEAMINASE, RNA-SPECIFIC, 1; ADAR1;; DOUBLE-STRANDED RNA-SPECIFIC ADENOSINE DEAMINASE; DSRAD; DRADA;; INTERFERON-INDUCED PROTEIN 4; IFI4;; G1P1 Asterisk 146928 CHEMOKINE, CXC MOTIF, RECEPTOR 2; CXCR2 INTERLEUKIN 8 RECEPTOR, BETA; IL8RB;; INTERLEUKIN 8 RECEPTOR, TYPE 2; IL8R2 Asterisk 146929 CHEMOKINE, CXC MOTIF, RECEPTOR 1; CXCR1 INTERLEUKIN 8 RECEPTOR, ALPHA; IL8RA;; INTERLEUKIN 8 RECEPTOR, TYPE 1; IL8R1 Asterisk 146930 INTERLEUKIN 8; IL8 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 8; SCYB8;; MONOCYTE-DERIVED NEUTROPHIL CHEMOTACTIC FACTOR;; NEUTROPHIL-ACTIVATING PEPTIDE 1; NAP1;; GRANULOCYTE CHEMOTACTIC PROTEIN 1; GCP1;; CHEMOKINE, CXC MOTIF, LIGAND 8; CXCL8 Asterisk 146931 INTERLEUKIN 9; IL9 T-CELL/MAST CELL GROWTH FACTOR P40 Caret 146932 MOVED TO 300007 Asterisk 146933 INTERLEUKIN 10 RECEPTOR, ALPHA; IL10RA INTERLEUKIN 10 RECEPTOR; IL10R;; IL10R1 Caret 146940 MOVED TO 147220 NULL 146950 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRHGAL; IHG NULL 146960 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRTGAL; ITG Asterisk 146970 IMMUNOGLOBULIN KAPPA LIGHT CHAIN JOINING GENE CLUSTER; IGKJ@ IGKJ GENE CLUSTER; IGKJ Asterisk 146980 IMMUNOGLOBULIN KAPPA LIGHT CHAIN VARIABLE GENE CLUSTER; IGKV@ IGKV GENE CLUSTER; IGKV NULL 146990 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY REGION 2; IGHDY2 IGD2 Asterisk 147000 IgA CONSTANT HEAVY CHAIN 2; IGHA2 IMMUNOGLOBULIN Am2 Asterisk 147010 IMMUNOGLOBULIN HEAVY CHAIN JOINING GENE CLUSTER; IGHJ@ IGHJ GENE CLUSTER; IGHJ Asterisk 147020 IMMUNOGLOBULIN HEAVY CHAIN CONSTANT REGION MU; IGHM IMMUNOGLOBULIN HEAVY CHAIN MU CONSTANT REGION;; IgM HEAVY CHAIN CONSTANT REGION Asterisk 147040 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 2; IFIT2 INTERFERON-INDUCED PROTEIN 54; IFI54;; G10P2 Asterisk 147045 Fc FRAGMENT OF IgA, RECEPTOR FOR; FCAR IMMUNOGLOBULIN A Fc RECEPTOR IG;; CD89 Number Sign 147050 IgE RESPONSIVENESS, ATOPIC; IGER IMMUNOGLOBULIN E, BASIC LEVEL OF, IN SERUM;; IgE, LEVEL OF; IGEL;; IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS IgE, ELEVATED LEVEL OF, INCLUDED;; ATOPY, SUSCEPTIBILITY TO, INCLUDED;; ATOPIC HYPERSENSITIVITY, INCLUDED Number Sign 147060 HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT; HIES1 HYPER-IgE SYNDROME, AUTOSOMAL DOMINANT;; HIES, AUTOSOMAL DOMINANT;; JOB SYNDROME Percent 147061 IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES Asterisk 147070 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE CLUSTER; IGHV@ IGHV GENE CLUSTER; IGHV NULL 147080 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGLPHE 1; IGLP1 NULL 147090 IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGLPHE 2; IGLP2 Asterisk 147100 IgG HEAVY CHAIN LOCUS; IGHG1 IMMUNOGLOBULIN Gm1 IGHG1/CCND1 FUSION GENE, INCLUDED;; IGHG1/LHX4 FUSION GENE, INCLUDED Asterisk 147110 IMMUNOGLOBULIN HEAVY CHAIN CONSTANT REGION GAMMA-2; IGHG2 IMMUNOGLOBULIN HEAVY CHAIN GAMMA-2 CONSTANT REGION;; IgG2 HEAVY CHAIN CONSTANT REGION;; IMMUNOGLOBULIN Gm2 Asterisk 147120 IMMUNOGLOBULIN Gm3; IGHG3 Asterisk 147130 IMMUNOGLOBULIN Gm4; IGHG4 Asterisk 147138 MEMBRANE-SPANNING 4 DOMAINS, SUBFAMILY A, MEMBER 2; MS4A2 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, BETA SUBUNIT; FCER1B;; IMMUNOGLOBULIN E RECEPTOR, HIGH AFFINITY, BETA POLYPEPTIDE;; Fc IgE RECEPTOR, BETA CHAIN;; IMMUNOGLOBULIN E REGULATOR; IGHER; IGER Asterisk 147139 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, GAMMA SUBUNIT; FCER1G IMMUNOGLOBULIN E RECEPTOR, HIGH AFFINITY, OF MAST CELLS, GAMMA POLYPEPTIDE;; Fc IgE RECEPTOR, GAMMA CHAIN; FCRG;; Fc RECEPTOR, COMMON GAMMA CHAIN Asterisk 147140 Fc FRAGMENT OF IgE, HIGH AFFINITY I, RECEPTOR FOR, ALPHA SUBUNIT; FCER1A IMMUNOGLOBULIN E RECEPTOR, HIGH AFFINITY, OF MAST CELLS, ALPHA POLYPEPTIDE;; Fc IgE RECEPTOR, ALPHA CHAIN Asterisk 147141 TRANSCRIPTION FACTOR 3; TCF3 IMMUNOGLOBULIN ENHANCER-BINDING FACTORS E12/E47; E2A;; IMMUNOGLOBULIN TRANSCRIPTION FACTOR 1; ITF1;; VITAMIN D RECEPTOR-INTERACTING REPRESSOR; VDIR;; NEGATIVE VITAMIN D RESPONSE ELEMENT-BINDING PROTEIN E2A/HLF FUSION GENE, INCLUDED;; E2A/PBX1 FUSION GENE, INCLUDED;; E2A/TFPT FUSION GENE, INCLUDED Asterisk 147150 MYXOVIRUS RESISTANCE 1, MOUSE, HOMOLOG OF; MX1 INTERFERON-INDUCIBLE PROTEIN p78; IFI78;; MxA Caret 147160 MOVED TO 147180 Asterisk 147170 IMMUNOGLOBULIN: HEAVY DELTA CHAIN; IGHD Asterisk 147180 IMMUNOGLOBULIN: HEAVY EPSILON CHAIN; IGHE IMMUNOGLOBULIN EPSILON; IgE IMMUNOGLOBULIN: HEAVY EPSILON CHAIN PSEUDOGENE 1, INCLUDED; IGHEP1, INCLUDED;; IMMUNOGLOBULIN: HEAVY EPSILON CHAIN PSEUDOGENE 2, INCLUDED; IGHEP2, INCLUDED;; V(KAPPA) PSEUDOGENES, INCLUDED Asterisk 147183 RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION; RBPJ RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA, HOMOLOG OF; RBPSUH;; IMMUNOGLOBULIN KAPPA J REGION RECOMBINATION SIGNAL-BINDING PROTEIN 1; IGKJRB1;; RECOMBINATION SIGNAL-BINDING PROTEIN 1 FOR J-KAPPA; RBPJK; RBPJ;; C PROMOTER-BINDING FACTOR 1; CBF1 Asterisk 147185 IMMUNOGLOBULIN KAPPA VARIABLE 1/OR2-108; IGKV1OR2108 IMMUNOGLOBULIN KAPPA ORPHON 1; IGO1;; IMMUNOGLOBULIN TRANSPOSED ELEMENT 1 Asterisk 147200 IMMUNOGLOBULIN KAPPA LIGHT CHAIN CONSTANT REGION; IGKC IMMUNOGLOBULIN KM;; IMMUNOGLOBULIN InV Caret 147210 MOVED TO 147180 Asterisk 147220 IMMUNOGLOBULIN LAMBDA CONSTANT REGION 1; IGLC1 IGLC;; IMMUNOGLOBULIN: LAMBDA LIGHT CHAIN Asterisk 147230 IMMUNOGLOBULIN LAMBDA LIGHT CHAIN JOINING GENE CLUSTER; IGLJ@ IGLJ GENE CLUSTER; IGLJ Asterisk 147240 IMMUNOGLOBULIN LAMBDA LIGHT CHAIN VARIABLE GENE CLUSTER; IGLV@ IGLV GENE CLUSTER; IGLV Asterisk 147245 CD79B ANTIGEN; CD79B IMMUNOGLOBULIN-ASSOCIATED BETA; IGB;; IMMUNOGLOBULIN-ASSOCIATED B29 PROTEIN; B29 Number Sign 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI INCISORS, FUSED;; FUSED INCISORS;; SINGLE UPPER CENTRAL INCISOR;; SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED;; SMMCI SYNDROME, INCLUDED NULL 147251 INCISORS, FUSED MANDIBULAR 'DOUBLE TOOTH' NULL 147260 IMMUNOGLOBULIN SWITCH SEQUENCES S SEQUENCES IMMUNOGLOBULIN-INDEPENDENT SWITCH SEQUENCES, INCLUDED Asterisk 147263 INOSITOL POLYPHOSPHATE-1-PHOSPHATASE; INPP1 Asterisk 147264 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 75-KD; INPP5B Asterisk 147265 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 1; ITPR1 IP3R;; IP3R1 Asterisk 147267 INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR, TYPE 3; ITPR3 IP3R3 Asterisk 147270 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1; ITIH1 IATIH;; ITIH Asterisk 147280 INSULIN-LIKE GROWTH FACTOR II RECEPTOR; IGF2R MANNOSE 6-PHOSPHATE RECEPTOR, CATION-INDEPENDENT; MPRI;; CIMPR Asterisk 147290 INHIBIN, BETA A; INHBA INHIBIN, BETA-1;; FOLLICLE-STIMULATING HORMONE-RELEASING PROTEIN; FRP;; FSH-RELEASING PROTEIN;; FSH-RELEASING FACTOR;; ERYTHROID DIFFERENTIATION FACTOR; EDF ACTIVIN A, INCLUDED;; ACTIVIN A-B, INCLUDED;; ACTIVIN BETA-A, INCLUDED NULL 147300 INCISORS, LONG UPPER CENTRAL Asterisk 147310 CHEMOKINE, CXC MOTIF, LIGAND 10; CXCL10 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 10; SCYB10;; INTERFERON-GAMMA-INDUCIBLE PROTEIN 10; IP10; INP10;; INTERFERON-GAMMA-INDUCED FACTOR;; MOB1, MOUSE, HOMOLOG OF NULL 147320 INSULIN RECEPTORS, FAMILIAL INCREASE IN NULL 147330 INCISORS, LOWER CENTRAL, ABSENCE OF NULL 147350 INCISORS, ROTATION OF UPPER CENTRAL Asterisk 147360 INVOLUCRIN; IVL Asterisk 147370 INSULIN-LIKE GROWTH FACTOR I RECEPTOR; IGF1R Asterisk 147380 INHIBIN, ALPHA; INHA Asterisk 147390 INHIBIN, BETA B; INHBB INHIBIN, BETA-2 ACTIVIN BETA-B, INCLUDED;; ACTIVIN B, INCLUDED Percent 147400 INCISORS, SHOVEL-SHAPED SINODONTY Caret 147410 REMOVED FROM DATABASE Caret 147420 MOVED TO 601419 Percent 147421 INCLUSION BODY MYOSITIS IBM Number Sign 147430 MARSILI SYNDROME; MARSIS INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT;; CONGENITAL ANALGESIA, AUTOSOMAL DOMINANT Asterisk 147435 INDOLEAMINE 2,3-DIOXYGENASE; IDO1 INDO;; IDO Asterisk 147440 INSULIN-LIKE GROWTH FACTOR I; IGF1 IGF I;; SOMATOMEDIN C Asterisk 147450 SUPEROXIDE DISMUTASE 1; SOD1 SUPEROXIDE DISMUTASE, CYTOSOLIC;; SUPEROXIDE DISMUTASE, SOLUBLE;; SOD, SOLUBLE;; SUPEROXIDE DISMUTASE, COPPER-ZINC;; INDOPHENOL OXIDASE A; IPOA Asterisk 147460 SUPEROXIDE DISMUTASE 2; SOD2 SUPEROXIDE DISMUTASE, MITOCHONDRIAL;; INDOPHENOL OXIDASE B; IPO-B;; MANGANESE SUPEROXIDE DISMUTASE; MNSOD Asterisk 147470 INSULIN-LIKE GROWTH FACTOR II; IGF2 SOMATOMEDIN A Number Sign 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1 CHOLESTASIS, PREGNANCY-RELATED, 1 Asterisk 147485 INTRACISTERNAL A PARTICLE-PROMOTED POLYPEPTIDE; IPP Caret 147490 REMOVED FROM DATABASE Asterisk 147510 INSULIN-RELATED DNA POLYMORPHISM; IRDN INSULIN-LINKED POLYMORPHIC REGION; ILPR;; INSULIN MINISATELLITE;; INS VNTR;; INSULIN-RELATED VNTR Asterisk 147520 INOSINE TRIPHOSPHATASE; ITPA INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE Asterisk 147521 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE A; ITPKA Asterisk 147522 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE B; ITPKB NULL 147530 INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY NULL 147540 INSECT STINGS, HYPERSENSITIVITY TO Plus 147545 INSULIN RECEPTOR SUBSTRATE 1; IRS1 CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED Asterisk 147553 INTERFERON, OMEGA-1; IFNW1 IFN-ALPHA-LIKE INTERFERON, OMEGA-2, PSEUDOGENE, INCLUDED; IFNWP2, INCLUDED Caret 147554 MOVED TO 147553 Asterisk 147556 INTEGRIN, ALPHA-6; ITGA6 CD49F Asterisk 147557 INTEGRIN, BETA-4; ITGB4 Asterisk 147558 INTEGRIN, BETA-6; ITGB6 Asterisk 147559 INTEGRIN, BETA-7; ITGB7 NULL 147560 INTERFERON ANTIVIRAL DEPRESSOR Asterisk 147561 INTEGRIN, BETA-5; ITGB5 Asterisk 147562 INTERFERON, ALPHA-2; IFNA2 Asterisk 147563 INTEGRIN-BINDING SIALOPROTEIN; IBSP BONE SIALOPROTEIN II;; BONE SIALOPROTEIN; BSP;; SIALOPROTEIN, BONE Asterisk 147564 INTERFERON, ALPHA-4; IFNA4 Asterisk 147565 INTERFERON, ALPHA-5; IFNA5 Asterisk 147566 INTERFERON, ALPHA-6; IFNA6 Asterisk 147567 INTERFERON, ALPHA-7; IFNA7 Asterisk 147568 INTERFERON, ALPHA-8; IFNA8 Asterisk 147569 INTERFERON-GAMMA RECEPTOR 2; IFNGR2 IFGR2;; INTERFERON-GAMMA TRANSDUCER 1; IFNGT1;; INTERFERON-GAMMA RECEPTOR, ACCESSORY FACTOR FOR Asterisk 147570 INTERFERON, GAMMA; IFNG IFG;; IFN, IMMUNE; IFI Asterisk 147571 UBIQUITIN-LIKE MODIFIER ISG15; ISG15 INTERFERON-INDUCED PROTEIN IFI-15K; G1P2;; INTERFERON-INDUCED PROTEIN 15; IFI15 Asterisk 147572 INTERFERON-ALPHA-INDUCIBLE PROTEIN 6; IFI6 INTERFERON-INDUCED PROTEIN IFI-6-16; IFI616;; G1P3 Asterisk 147573 INTERFERON PRODUCTION REGULATOR; IFNR INTERFERON-GAMMA-RESPONSIVE INDUCER OF CLASS II MHC ANTIGENS; IFNGM; IFNGM2 Asterisk 147574 INTERFERON REGULATORY FACTOR 9; IRF9 INTERFERON-STIMULATED TRANSCRIPTION FACTOR 3, GAMMA; ISGF3G;; ISGF3-GAMMA;; p48 INTERFERON-STIMULATED GENE FACTOR 3, INCLUDED; ISGF3, INCLUDED Asterisk 147575 INTERFERON REGULATORY FACTOR 1; IRF1 Asterisk 147576 INTERFERON REGULATORY FACTOR 2; IRF2 Asterisk 147577 INTERFERON, ALPHA-10; IFNA10 Asterisk 147578 INTERFERON, ALPHA-13; IFNA13 Asterisk 147579 INTERFERON, ALPHA-14; IFNA14 LEUKOCYTE INTERFERON 2H; LEIF2H Asterisk 147580 INTERFERON, ALPHA-16; IFNA16 Caret 147581 MOVED TO 100880 Asterisk 147582 IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2 IRE-BINDING PROTEIN 2; IRP2 Asterisk 147583 INTERFERON, ALPHA-17; IFNA17 INTERFERON A; INFA;; LEUKOCYTE INTERFERON 2C1; LEIF2C1 Asterisk 147584 INTERFERON, ALPHA-21; IFNA21 Caret 147585 MOVED TO 147660 Asterisk 147586 INTERFERON-GAMMA-INDUCIBLE PROTEIN 16; IFI16 Caret 147590 MOVED TO 109120 NULL 147610 IRIS PIGMENT LAYER, CLEAVAGE OF Asterisk 147620 INTERLEUKIN 6; IL6 INTERFERON, BETA-2; IFNB2;; B-CELL DIFFERENTIATION FACTOR;; B-CELL STIMULATORY FACTOR 2; BSF2;; HEPATOCYTE STIMULATORY FACTOR; HSF;; HYBRIDOMA GROWTH FACTOR; HGF Asterisk 147625 ISLET CELL AUTOANTIGEN 1; ICA1 ISLET CELL AUTOANTIGEN, 69-KD; ICA69 Number Sign 147630 INSULINOMATOSIS AND DIABETES MELLITUS; INSDM ISLET CELL ADENOMATOSIS Asterisk 147640 INTERFERON, BETA-1; IFNB1 INTERFERON, FIBROBLAST; IFF;; IFN, FIBROBLAST;; BETA-INTERFERON; IFB; IFNB Asterisk 147650 ISOCITRATE DEHYDROGENASE 2; IDH2 ISOCITRATE DEHYDROGENASE, NADP(+)-SPECIFIC, MITOCHONDRIAL; IDPM Asterisk 147660 INTERFERON, ALPHA-1; IFNA1 INTERFERON, LEUKOCYTIC;; ALPHA-INTERFERON; IFN; IFNA;; IFN-ALPHA;; IFN, LEUKOCYTE; IFL INTERFERON, ALPHA, PSEUDOGENE 22, INCLUDED; IFNAP22, INCLUDED Asterisk 147670 INSULIN RECEPTOR; INSR Asterisk 147671 INSULIN RECEPTOR-RELATED RECEPTOR; INSRR IRR Asterisk 147678 CASPASE 1, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP1 INTERLEUKIN 1-BETA CONVERTASE; IL1BC;; IL1B-CONVERTASE;; IL1B-CONVERTING ENZYME; ICE Asterisk 147679 INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN IL1RA Asterisk 147680 INTERLEUKIN 2; IL2 T-CELL GROWTH FACTOR; TCGF Asterisk 147681 INTERLEUKIN 11; IL11 Asterisk 147683 INTERLEUKIN 13; IL13 Caret 147684 REMOVED FROM DATABASE Asterisk 147685 FORKHEAD BOX K2; FOXK2 INTERLEUKIN ENHANCER-BINDING FACTOR 1; ILF1;; ILF Caret 147686 MOVED TO 300119 Asterisk 147690 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 1; IFIT1 INTERFERON-INDUCED PROTEIN 56; IFI56;; INTERFERON-INDUCED PROTEIN IFI-56K; G10P1;; INTERFERON-INDUCIBLE mRNA 561; RNM561;; ISG56;; C56 Asterisk 147700 ISOCITRATE DEHYDROGENASE 1; IDH1 ISOCITRATE DEHYDROGENASE, NADP(+)-SPECIFIC, SOLUBLE;; PEROXISOMAL ISOCITRATE DEHYDROGENASE; PICD;; ISOCITRATE DEHYDROGENASE, NADP(+)-DEPENDENT, CYTOSOLIC; IDPC; ICDC NULL 147710 INTUSSUSCEPTION Asterisk 147720 INTERLEUKIN 1-BETA; IL1B IL1-BETA Asterisk 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA IL2 RECEPTOR; IL2R;; IL2R, ALPHA CHAIN;; T-CELL GROWTH FACTOR RECEPTOR; TCGFR;; TAC ANTIGEN;; CD25 Asterisk 147740 INTERLEUKIN 3; IL3 MULTI-CSF Number Sign 147750 IVIC SYNDROME RADIAL RAY DEFECTS, HEARING IMPAIRMENT, EXTERNAL OPHTHALMOPLEGIA, AND THROMBOCYTOPENIA;; OCULOOTORADIAL SYNDROME; OORS Asterisk 147760 INTERLEUKIN 1-ALPHA; IL1A IL1-ALPHA Percent 147770 JOHNSON NEUROECTODERMAL SYNDROME JOHNSON-MCMILLIN SYNDROME; JMS;; ALOPECIA-ANOSMIA-DEAFNESS-HYPOGONADISM SYNDROME;; AADH SYNDROME Asterisk 147780 INTERLEUKIN 4; IL4 B-CELL STIMULATORY FACTOR 1; BSF1 Asterisk 147781 INTERLEUKIN 4 RECEPTOR; IL4R INTERLEUKIN 4 RECEPTOR, ALPHA; IL4RA Asterisk 147790 IMMUNOGLOBULIN J POLYPEPTIDE, LINKER PROTEIN FOR IMMUNOGLOBULIN ALPHA AND MU POLYPEPTIDES; IGJ IGCJ;; J CHAIN; JCH Number Sign 147791 JACOBSEN SYNDROME; JBS CHROMOSOME 11q DELETION SYNDROME;; PARTIAL 11q MONOSOMY SYNDROME Asterisk 147795 JANUS KINASE 1; JAK1 Asterisk 147796 JANUS KINASE 2; JAK2 JAK2/ETV6 FUSION GENE, INCLUDED Percent 147800 AASE-SMITH SYNDROME I AASE-SMITH SYNDROME;; JOINT CONTRACTURES WITH OTHER ABNORMALITIES Asterisk 147810 INTERLEUKIN 1 RECEPTOR, TYPE I; IL1R1 INTERLEUKIN 1 RECEPTOR, ALPHA, TYPE I; IL1RA;; INTERLEUKIN 1 RECEPTOR; IL1R Asterisk 147811 INTERLEUKIN 1 RECEPTOR, TYPE II; IL1R2 INTERLEUKIN 1 RECEPTOR, BETA, TYPE II; IL1RB NULL 147820 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF Asterisk 147830 T-CELL TUMOR INVASION AND METASTASIS 1; TTIM1 INVASION AND METASTASIS FACTORS ON CHROMOSOME 7; INM7;; INVASION-INDUCING LOCUS Asterisk 147840 INTERCELLULAR ADHESION MOLECULE 1; ICAM1 CD54;; SURFACE ANTIGEN OF ACTIVATED B CELLS, BB2; BB2;; ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY BB2 Asterisk 147850 INTERLEUKIN 5; IL5 EOSINOPHIL DIFFERENTIATION FACTOR; EDF Asterisk 147851 INTERLEUKIN 5 RECEPTOR, ALPHA; IL5RA IL5R NULL 147860 INTERFERON, BETA-3; IFNB3 Asterisk 147870 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2; WNT2 ONCOGENE INT1-LIKE 1; INT1L1;; INT1-RELATED PROTEIN; IRP Asterisk 147880 INTERLEUKIN 6 RECEPTOR; IL6R INTERLEUKIN 6 RECEPTOR, ALPHA; IL6RA;; CD126 Asterisk 147890 MYXOVIRUS RESISTANCE 2, MOUSE, HOMOLOG OF; MX2 INTERFERON-INDUCIBLE PROTEIN p78, SECOND LOCUS;; MxB Number Sign 147891 ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS SMALL PATELLA SYNDROME; SPS;; PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS;; ISCHIOPATELLAR DYSPLASIA;; COXOPODOPATELLAR SYNDROME;; SCOTT-TAOR SYNDROME Asterisk 147892 DEIODINASE, IODOTHYRONINE, TYPE I; DIO1 THYROXINE DEIODINASE, TYPE I; TXDI1 Percent 147900 JOINT LAXITY, FAMILIAL FAMILIAL JOINT INSTABILITY SYNDROME;; ARTICULAR HYPERMOBILITY SYNDROME;; EHLERS-DANLOS SYNDROME, TYPE XI, FORMERLY;; EDS XI, FORMERLY;; EDS11, FORMERLY Asterisk 147910 KALLIKREIN 1; KLK1 KALLIKREIN, RENAL/PANCREATIC/SALIVARY; KLKR;; KALLIKREIN, TISSUE Number Sign 147920 KABUKI SYNDROME 1; KABUK1 KABUKI SYNDROME;; KABUKI MAKE-UP SYNDROME; KMS;; NIIKAWA-KUROKI SYNDROME Asterisk 147935 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 4; SERPINA4 KALLISTATIN; KST;; TISSUE KALLIKREIN INHIBITOR;; PROTEASE INHIBITOR 4; PI4 Asterisk 147940 ISLET AMYLOID POLYPEPTIDE; IAPP IAP;; AMYLIN;; DIABETES-ASSOCIATED PEPTIDE; DAP Number Sign 147950 HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 KALLMANN SYNDROME 2; KAL2 Asterisk 147960 KALLIKREIN-RELATED PEPTIDASE 2; KLK2 KALLIKREIN 2;; KALLIKREIN, GLANDULAR;; KALLIKREIN, PROSTATIC Number Sign 148000 KAPOSI SARCOMA, SUSCEPTIBILITY TO MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO, INCLUDED; MCD, INCLUDED Asterisk 148020 KERATIN 19; KRT19 K19;; KERATIN, TYPE I, 40-KD Asterisk 148021 KERATIN ASSOCIATED PROTEIN 5-9; KRTAP5-9 KERATIN, CUTICLE, ULTRAHIGH-SULFUR, 1; KRN1 Asterisk 148022 KERATIN-ASSOCIATED PROTEIN 5-1; KRTAP5-1 KERATIN, CUTICLE, ULTRAHIGH-SULFUR, 1-LIKE; KRN1L Asterisk 148030 KERATIN 15, TYPE I; KRT15 K15;; KA15;; CYTOKERATIN 15 Asterisk 148040 KERATIN 5, TYPE II; KRT5 K5;; KB5 Asterisk 148041 KERATIN 6A, TYPE II; KRT6A KERATIN, EPIDERMAL TYPE II, K6A; K6A;; KB6 Asterisk 148042 KERATIN 6B, TYPE II; KRT6B KERATIN, EPIDERMAL TYPE II, K6B; K6B;; CYTOKERATIN 6B; CK6B;; KB10 Asterisk 148043 KERATIN 3, TYPE II; KRT3 K3;; KB3;; CYTOKERATIN 3; CK3 Number Sign 148050 KBG SYNDROME; KBGS MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES Asterisk 148059 KERATIN 7, TYPE II; KRT7 K7;; KB7;; KERATIN, SIMPLE EPITHELIAL;; KERATIN, TYPE II, CYTOSKELETAL, 7; K2C7;; SARCOLECTIN; SCL Asterisk 148060 KERATIN 8, TYPE II; KRT8 K8;; KB8 CYTOKERATIN 8; CK8; CYK8 Asterisk 148065 KERATIN 13, TYPE I; KRT13 K13;; KA13;; CYTOKERATIN 13; CK13 Asterisk 148066 KERATIN 14, TYPE I; KRT14 K14;; KA14 Asterisk 148067 KERATIN 16, TYPE I; KRT16 K16;; KA16 Asterisk 148069 KERATIN 17, TYPE I; KRT17 K17;; KA17;; CYTOKERATIN 17; CK17 Asterisk 148070 KERATIN 18, TYPE I; KRT18 K18;; KA18;; CYTOKERATIN 18; CYK18; CK18 Asterisk 148080 KERATIN 10, TYPE I; KRT10 K10;; KA10 Percent 148100 KELOID FORMATION Asterisk 148180 FIBROBLAST GROWTH FACTOR 7; FGF7 KERATINOCYTE GROWTH FACTOR; KGF Caret 148181 MOVED TO 176943 Number Sign 148190 KERATITIS, HEREDITARY Number Sign 148200 KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH KERATITIS FUGAX HEREDITARIA Number Sign 148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT KID SYNDROME, AUTOSOMAL DOMINANT Number Sign 148300 KERATOCONUS 1; KTCN1 Number Sign 148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS NULL 148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY AXONAL NEUROPATHY WITH PALMOPLANTAR KERATODERMA;; CHARCOT-MARIE-TOOTH DISEASE WITH PALMOPLANTAR KERATODERMA AND NAIL DYSTROPHY Number Sign 148370 KERATOLYTIC WINTER ERYTHEMA; KWE OUDTSHOORN SKIN DISEASE NULL 148390 KERATOSIS, FAMILIAL ACTINIC Number Sign 148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER;; KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER NULL 148520 KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY Number Sign 148600 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A PALMOPLANTAR KERATODERMA, PUNCTATE TYPE I; PPKP1;; KPPP1;; KERATODERMIA PALMOPLANTARIS PAPULOSA, BUSCHKE-FISCHER-BRAUER TYPE;; KERATOSIS PALMOPLANTARIS PAPULOSA Number Sign 148700 PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE; PPKS1 KERATOSIS PALMOPLANTARIS STRIATA I;; STRIATE PALMOPLANTAR KERATODERMA I; SPPK1;; KERATODERMA, PALMOPLANTAR, STRIATE FORM I; KPPS1 Percent 148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL FOCAL PALMOPLANTAR AND GINGIVAL HYPERKERATOSIS SYNDROME Asterisk 148750 KINASE-LIKE PROTEIN G7P1; G7P1 Asterisk 148760 KINESIN FAMILY MEMBER 11; KIF11 KINESIN-LIKE 1; KNSL1;; KINESIN, HEAVY CHAIN;; EG5, XENOPUS, HOMOLOG OF; EG5;; THYROID HORMONE RECEPTOR-INTERACTING PROTEIN 5; TRIP5 NULL 148800 KLEEBLATTSCHAEDEL CLOVERLEAF SKULL;; KLEEBLATTSCHADEL Number Sign 148820 WAARDENBURG SYNDROME, TYPE 3; WS3 WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES;; WAARDENBURG SYNDROME, TYPE III;; KLEIN-WAARDENBURG SYNDROME Percent 148840 KLEINE-LEVIN HIBERNATION SYNDROME KLEINE-LEVIN SYNDROME Caret 148860 MOVED TO 601076 Caret 148870 MOVED TO 118100 Caret 148900 MOVED TO 118100 Percent 149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME KTW SYNDROME;; KLIPPEL-TRENAUNAY SYNDROME; KTS;; ANGIOOSTEOHYPERTROPHY SYNDROME Number Sign 149100 KNUCKLE PADS Number Sign 149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS BART-PUMPHREY SYNDROME Percent 149300 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 2; NDNC2 KOILONYCHIA, HEREDITARY;; SPOON NAILS KOILONYCHIA WITH LEUKONYCHIA, INCLUDED Number Sign 149400 HYPEREKPLEXIA 1; HKPX1 STARTLE DISEASE, FAMILIAL;; STARTLE REACTION, EXAGGERATED;; EXAGGERATED STARTLE REACTION;; STHE;; STIFF-BABY SYNDROME;; STIFF-MAN SYNDROME, CONGENITAL;; STIFF-PERSON SYNDROME, CONGENITAL;; KOK DISEASE NULL 149500 KYRLE DISEASE NULL 149600 LABIA MINORA, INCOMPLETE ADHESION OF Number Sign 149700 LACRIMAL DUCT DEFECT; LCDD NASOLACRIMAL DUCT OBSTRUCTION;; LACRIMAL PUNCTA, ABSENCE OF Number Sign 149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD LADD SYNDROME;; LEVY-HOLLISTER SYNDROME Asterisk 149750 LACTALBUMIN, ALPHA; LALBA Asterisk 150000 LACTATE DEHYDROGENASE A; LDHA LDH, SUBUNIT M Asterisk 150100 LACTATE DEHYDROGENASE B; LDHB LDH, SUBUNIT H Asterisk 150150 LACTATE DEHYDROGENASE C; LDHC LDH, TESTICULAR FORM; LDHX Caret 150160 MOVED TO 150000 NULL 150170 LACTIC ACIDOSIS, CHRONIC ADULT FORM Asterisk 150200 CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1 CHORIONIC SOMATOMAMMOTROPIN A; CSA; CSMT;; LACTOGEN, PLACENTAL; PL Asterisk 150205 LACTOPEROXIDASE; LPO Asterisk 150210 LACTOTRANSFERRIN; LTF LACTOFERRIN; LF Caret 150220 MOVED TO 223000 Number Sign 150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 LANGER-GIEDION SYNDROME; LGS;; CHROMOSOME 8q24.1 DELETION SYNDROME Asterisk 150240 LAMININ, BETA-1; LAMB1 Number Sign 150250 LARSEN SYNDROME; LRS Percent 150260 LARYNGEAL ABDUCTOR PARALYSIS LABD;; GERHARDT SYNDROME;; VOCAL CORD DYSFUNCTION, FAMILIAL Percent 150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP VOCAL CORD DYSFUNCTION, ADDUCTOR TYPE NULL 150280 LARYNGOMALACIA Asterisk 150290 LAMININ, GAMMA-1; LAMC1 LAMININ B2, FORMERLY; LAMB2, FORMERLY Asterisk 150292 LAMININ, GAMMA-2; LAMC2 LAMININ B2 POLYPEPTIDE, TRUNCATED;; LAMB2, TRUNCATED; LAMB2T;; KALININ;; LAMININ, NICEIN, BETA-2; LAMNB2;; LAMININ 5, GAMMA-2 SUBUNIT;; LAM5, GAMMA-2 SUBUNIT NULL 150300 LARYNX, CONGENITAL PARTIAL ATRESIA OF Asterisk 150310 LAMININ, BETA-3; LAMB3 LAMININ B3;; LAMININ 5, BETA-3 SUBUNIT;; LAM5, BETA-3 SUBUNIT Asterisk 150320 LAMININ, ALPHA-1; LAMA1 LAMININ A; LAMA Asterisk 150325 LAMININ, BETA-2; LAMB2 LAMININ S; LAMS Asterisk 150330 LAMIN A/C; LMNA LAMIN A, INCLUDED;; LAMIN C, INCLUDED; LMNC, INCLUDED;; PRELAMIN A, INCLUDED;; PROGERIN, INCLUDED Asterisk 150340 LAMIN B1; LMNB1 LMNB Asterisk 150341 LAMIN B2; LMNB2 NULL 150360 LARYNGEAL WEB, FAMILIAL GLOTTIC WEB, CONGENITAL ANTERIOR;; SUBGLOTTIC WEB;; SUBGLOTTIC BAR Asterisk 150370 RIBOSOMAL PROTEIN SA; RPSA LAMININ RECEPTOR 1; LAMR1;; LAMBR;; LAMININ RECEPTOR, 67-KD; 67LR Asterisk 150390 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 1; LTBP1 Number Sign 150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4 TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA;; LATERAL INCISORS, ABSENCE OF;; LATERAL INCISORS, PEGGED OR MISSING;; SUCCEDANEOUS TEETH, AGENESIS OF NULL 150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT NULL 150550 LAZY LEUKOCYTE SYNDROME Asterisk 150570 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 1; LGALS1 GALECTIN 1; GAL1 Asterisk 150571 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 2; LGALS2 GALECTIN 2 NULL 150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET Number Sign 150600 LEGG-CALVE-PERTHES DISEASE; LCPD LCP;; LEGG-PERTHES DISEASE;; PERTHES DISEASE Number Sign 150699 LEIOMYOMA, UTERINE; UL NULL 150700 LEIOMYOMA OF VULVA AND ESOPHAGUS LEIOMYOMATOSIS, ESOPHAGOGASTRIC AND VULVAR Number Sign 150800 HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA; MCUL1;; LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY; LRCC;; LEIOMYOMA, MULTIPLE CUTANEOUS; MCL NULL 150900 LENTIGINES NULL 151000 LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC LENTIGINOSIS, TOURAINE TYPE Percent 151001 LENTIGINOSIS, INHERITED PATTERNED LENTIGINOSIS, GENERALIZED;; LENTIGINOSIS PROFUSA;; LENTIGINOSIS, DIFFUSE Asterisk 151020 LENTIL AGGLUTININ BINDING LCH RECEPTOR Number Sign 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD LENZ-MAJEWSKI SYNDROME Number Sign 151100 LEOPARD SYNDROME 1; LPRD1 LENTIGINOSIS, CARDIOMYOPATHIC;; MULTIPLE LENTIGINES SYNDROME Number Sign 151200 CHROMOSOME 8q22.1 DUPLICATION SYNDROME LERI PLEONOSTEOSIS Number Sign 151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, TORRANCE TYPE;; THANATOPHORIC DYSPLASIA, TORRANCE VARIANT PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED;; THANATOPHORIC DYSPLASIA, LUTON VARIANT, INCLUDED Asterisk 151250 LETHAL ANTIGEN--A1; AL-A1 SPECIES ANTIGEN 11-1; SA11-1; S1; MER1 E7-ASSOCIATED CELL-SURFACE ANTIGEN, INCLUDED Asterisk 151290 BETA-1,3-GLUCURONYLTRANSFERASE 1; B3GAT1 GLUCURONOSYLTRANSFERASE P; GLCATP Asterisk 151300 LEUCYL-CYSTINYL AMINOPEPTIDASE; LNPEP LEUCINE AMINOPEPTIDASE OF PLACENTA;; OXYTOCINASE;; INSULIN-RESPONSIVE AMINOPEPTIDASE, MOUSE, HOMOLOG OF; IRAP Asterisk 151310 LEUCINE TRANSPORT, HIGH; LEUT HIGH L-LEUCINE TRANSPORT; HTL Asterisk 151350 LEUCYL-tRNA SYNTHETASE; LARS LRS;; LARS1;; LEUS;; RNTLS NULL 151380 LEUKEMIA, ACUTE MONOCYTIC Asterisk 151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1 ACUTE MYELOID LEUKEMIA 1 GENE; AML1;; CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2; CBFA2;; PEBP2-ALPHA-B; PEBP2AB AML1/TEL FUSION GENE, INCLUDED;; AML1/MDS1 FUSION GENE, INCLUDED;; AML1/ETO FUSION GENE, INCLUDED;; AML1/MDS1/EAI1 FUSION GENE, INCLUDED; AME, INCLUDED;; AML1/FOG2 FUSION GENE, INCLUDED;; RUNX1/YTHDF2 FUSION GENE, INCLUDED;; RUNX1/SH3D19 FUSION GENE, INCLUDED;; RUNX1/ZNF687 FUSION GENE, INCLUDED Caret 151390 MOVED TO 180385 Number Sign 151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL LEUKEMIA, CHRONIC LYMPHATIC Asterisk 151410 BREAKPOINT CLUSTER REGION; BCR BCR1 BCR/ABL FUSION GENE, INCLUDED;; BCR/FGFR1 FUSION GENE, INCLUDED;; BCR/PDGFRA FUSION GENE, INCLUDED Plus 151430 B-CELL CLL/LYMPHOMA 2; BCL2 ONCOGENE B-CELL LEUKEMIA 2 LEUKEMIA/LYMPHOMA, B-CELL, 2, INCLUDED Asterisk 151440 LYMPHOBLASTIC LEUKEMIA-DERIVED SEQUENCE 1; LYL1 Asterisk 151441 LEUKEMIA/LYMPHOMA, CHRONIC B-CELL, 5; BCL5 B-CELL LEUKEMIA/LYMPHOMA 5;; BCL3, FORMERLY Asterisk 151442 STATHMIN 1; STMN1 STATHMIN; SMN;; LEUKEMIA-ASSOCIATED PHOSPHOPROTEIN p18; LAP18;; METABLASTIN;; OP18 Asterisk 151443 LEUKEMIA INHIBITORY FACTOR RECEPTOR; LIFR Asterisk 151445 Fc FRAGMENT OF IgE, LOW AFFINITY II, RECEPTOR FOR; FCER2 LEUKOCYTE ANTIGEN CD23; CD23;; IgE-BINDING FACTOR; IGEBF;; IMMUNOGLOBULIN E RECEPTOR, LOW AFFINITY II;; IgE RECEPTOR, LYMPHOCYTE;; C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER J; CLEC4J NULL 151450 LEUKOCYTE ANTIGEN GROUP FIVE; LAG5 GRANULOCYTE ANTIGEN 5 Asterisk 151460 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C; PTPRC LEUKOCYTE-COMMON ANTIGEN; LCA;; T200 GLYCOPROTEIN;; CD45;; CD45R;; Ly5, HOMOLOG OF;; B220 Caret 151465 MOVED TO 162643 NULL 151500 LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF Asterisk 151510 INTEGRIN, ALPHA-X; ITGAX LEUKOCYTE SURFACE ANTIGEN p150,95, ALPHA SUBUNIT;; LEU M5, ALPHA SUBUNIT;; MYELOID MEMBRANE ANTIGEN, ALPHA SUBUNIT;; CD11C Asterisk 151520 LEUKOCYTE TYROSINE KINASE; LTK PROTEIN TYROSINE KINASE-1; TYK1 Asterisk 151523 LEUKOCYTE SURFACE ANTIGEN CD37; CD37 Asterisk 151525 LEUKOCYTE SURFACE ANTIGEN CD53; CD53 ANTIGEN MOX44 IDENTIFIED BY MONOCLONAL ANTIBODY MRC-OX44; MOX44 Asterisk 151530 ALANYL AMINOPEPTIDASE; ANPEP AMINOPEPTIDASE N; PEPN;; CD13 ANTIGEN; CD13;; LEUKOCYTE SURFACE ANTIGEN GP150; GP150 Caret 151540 MOVED TO 600623 Caret 151550 REMOVED FROM DATABASE Asterisk 151570 LEUKOTRIENE A4 HYDROLASE; LTA4H Caret 151580 MOVED TO 142360 NULL 151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA Number Sign 151600 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3 LEUKONYCHIA TOTALIS AND/OR PARTIALIS;; PORCELAIN NAILS LEUKONYCHIA STRIATUS, INCLUDED;; LEUKONYCHIA PUNCTATA, INCLUDED NULL 151610 LEVATOR-MEDIAL RECTUS SYNKINESIS OCULOMOTOR-LEVATOR SYNKINESIS NULL 151620 LICHEN PLANUS, FAMILIAL Number Sign 151623 LI-FRAUMENI SYNDROME; LFS SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI;; SBLA SYNDROME LI-FRAUMENI-LIKE SYNDROME, INCLUDED; LFL, INCLUDED Asterisk 151625 LIGATIN; LGTN Asterisk 151626 LINE RETROTRANSPOSABLE ELEMENT 1; LRE1 LINE-1.2 RETROTRANSPOSABLE ELEMENT; L1.2 Asterisk 151627 LINKIN Asterisk 151628 LINE RETROTRANSPOSABLE ELEMENT 2; LRE2 Percent 151630 LIP, MEDIAN NODULE OF UPPER NULL 151640 LIP, HAMARTOMATOUS ENLARGEMENT OF LOWER LIP Number Sign 151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 FPL2;; LIPODYSTROPHY, FAMILIAL PARTIAL, DUNNIGAN TYPE;; LIPODYSTROPHY, FAMILIAL, OF LIMBS AND LOWER TRUNK;; LIPODYSTROPHY, REVERSE PARTIAL;; LIPOATROPHIC DIABETES Asterisk 151670 LIPASE, HEPATIC; LIPC LIPH;; HEPATIC TRIGLYCERIDE LIPASE; HTGL;; HEPATIC LIPASE; HL Asterisk 151675 LIPOCALIN 1; LCN1 LIPOCALIN, TEAR;; PREALBUMIN, TEAR;; PROTEIN MIGRATING FASTER THAN ALBUMIN;; VON EBNER GLAND PROTEIN;; VEG PROTEIN; VEGP Caret 151680 MOVED TO 269880 Asterisk 151690 ANNEXIN A1; ANXA1 ANNEXIN I; ANX1;; LIPOCORTIN I; LPC1;; CALPACTIN II NULL 151700 LIPOMA OF THE CONJUNCTIVA Caret 151710 MOVED TO 151740 Caret 151720 MOVED TO 151740 Caret 151730 MOVED TO 151740 Asterisk 151740 ANNEXIN A2; ANXA2 ANNEXIN II; ANX2;; ANNEXIN II, HEAVY CHAIN;; LIPOCORTIN II; LPC2; LIP2 ANNEXIN II PSEUDOGENE 1, INCLUDED; ANX2P1, INCLUDED;; ANX2P2, INCLUDED;; ANX2P3, INCLUDED Asterisk 151750 LIPASE, HORMONE-SENSITIVE; LIPE HSL NULL 151800 LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL LIPOMATOSIS, FAMILIAL BENIGN CERVICAL;; LIPODYSTROPHY, CEPHALOTHORACIC Percent 151900 LIPOMATOSIS, MULTIPLE LIPOMATOSIS, FAMILIAL MULTIPLE; FML;; LIPOMA; LIPO Asterisk 151990 LIPOPOLYSACCHARIDE-BINDING PROTEIN; LBP LPS-BINDING PROTEIN Percent 152100 LIPOPROTEIN TYPES--Ld SYSTEM Plus 152200 APOLIPOPROTEIN(a); LPA LIPOPROTEIN(a), INCLUDED; Lp(a), INCLUDED;; LIPOPROTEIN TYPES--Lp SYSTEM, INCLUDED;; Lp(a) HYPERLIPOPROTEINEMIA, INCLUDED;; SINKING PRE-BETA-LIPOPROTEIN, INCLUDED; SPB, INCLUDED;; LIPOPROTEIN(a) DEFICIENCY, CONGENITAL, INCLUDED;; Lp(a) DEFICIENCY, CONGENITAL, INCLUDED;; CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED NULL 152300 LIPOPROTEIN TYPES--Lt SYSTEM Asterisk 152310 TISSUE FACTOR PATHWAY INHIBITOR; TFPI EXTRINSIC PATHWAY INHIBITOR; EPI;; LIPOPROTEIN-ASSOCIATED COAGULATION INHIBITOR; LACI;; TFPI1 Asterisk 152390 ARACHIDONATE 5-LIPOXYGENASE; ALOX5 5-LIPOXYGENASE; LOG5; 5-LO Asterisk 152391 ARACHIDONATE 12-OXIDOREDUCTASE; ALOX12 12-LIPOXYGENASE; LOG12;; 12LO Asterisk 152392 ARACHIDONATE 15-LIPOXYGENASE; ALOX15 15-LIPOXYGENASE, RETICULOCYTE ARACHIDONATE NULL 152400 LIPOPROTEIN, VARIANT OF BETA BETA-LIPOPROTEIN, DOUBLE NULL 152420 LITHIUM TRANSPORT Asterisk 152422 LOCUS CONTROL REGION, ALPHA LCR-ALPHA; LCRA Caret 152423 MOVED TO 192090 Asterisk 152424 LOCUS CONTROL REGION, BETA LCR-BETA; LCRB Asterisk 152425 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 1; ACSL1 FATTY ACID CoA LIGASE, LONG CHAIN 2; FACL2;; LONG CHAIN ACYL-CoA SYNTHETASE 2; LACS2;; PALMITOYL-CoA LIGASE 2;; FATTY ACID CoA LIGASE, LONG CHAIN 1; FACL1;; LONG CHAIN ACYL-CoA SYNTHETASE; LACS;; ACYL-CoA SYNTHETASE 1; ACS1;; PALMITOYL-CoA LIGASE 1 Caret 152426 MOVED TO 152425 Asterisk 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2 HUMAN ETHER-A-GO-GO-RELATED GENE; HERG;; ETHER-A-GO-GO-RELATED GENE, HUMAN;; ERG1;; KV11.1 Percent 152430 LONGEVITY 1 Asterisk 152445 LORICRIN; LOR EPIDERMAL DIFFERENTIATION COMPLEX, INCLUDED; EDC, INCLUDED NULL 152450 LOW DENSITY LIPOPROTEIN, VARIATION IN MOLECULAR WEIGHT OF Caret 152460 MOVED TO 137950 NULL 152550 LUMBAR STENOSIS, FAMILIAL NULL 152600 LUNULAE OF FINGERNAILS Asterisk 152690 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 6; XRCC6 THYROID AUTOANTIGEN, 70-KD; G22P1;; Ku ANTIGEN, 70-KD SUBUNIT; Ku70;; LUPUS AUTOANTIGEN p70;; THYROID-LUPUS AUTOANTIGEN; TLAA Number Sign 152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED;; EXCESS LMW-DNA, INCLUDED Asterisk 152760 GONADOTROPIN-RELEASING HORMONE 1; GNRH1 GNRH;; LUTEINIZING HORMONE-RELEASING HORMONE; LHRH PROLACTIN RELEASE-INHIBITING FACTOR, INCLUDED; PIF, INCLUDED Caret 152761 MOVED TO 138850 Asterisk 152780 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB LUTROPIN, BETA CHAIN;; INTERSTITIAL CELL STIMULATING HORMONE, BETA CHAIN;; CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 4; CGB4 Asterisk 152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR LUTROPIN-CHORIOGONADOTROPIN RECEPTOR; LCGR;; LUTEINIZING HORMONE RECEPTOR; LHR;; GONADOTROPIN RECEPTOR Percent 152800 LYMPHANGIECTASIA, INTESTINAL NULL 152900 LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY Number Sign 152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;; MLCRD SYNDROME;; MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL DOMINANT;; CDMMR SYNDROME;; LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;; LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS Caret 153000 MOVED TO 153400 Number Sign 153100 LYMPHATIC MALFORMATION 1; LMPHM1 NONNE-MILROY LYMPHEDEMA;; MILROY DISEASE;; LYMPHEDEMA, EARLY-ONSET;; PRIMARY CONGENITAL LYMPHEDEMA; PCL;; LYMPHEDEMA, HEREDITARY, TYPE I, FORMERLY;; LYMPHEDEMA, HEREDITARY, IA, FORMERLY; LMPH1A, FORMERLY Percent 153200 LYMPHATIC MALFORMATION 5; LMPHM5 MEIGE DISEASE;; MEIGE LYMPHEDEMA;; LYMPHEDEMA, LATE-ONSET;; LYMPHEDEMA PRAECOX;; LYMPHEDEMA, HEREDITARY, II, FORMERLY; LMPH2, FORMERLY Asterisk 153240 SELECTIN L; SELL L-SELECTIN;; LYMPHOCYTE ADHESION MOLECULE 1; LYAM1; LAM1;; LEU8;; CD62 ANTIGEN LIGAND; CD62L Asterisk 153243 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 8; TNFRSF8 LYMPHOID ACTIVATION ANTIGEN CD30; CD30 Plus 153245 LYMPHOID ENHANCER-BINDING FACTOR 1; LEF1 TRANSCRIPTION FACTOR, T CELL-SPECIFIC, 1, ALPHA;; TCF1-ALPHA SEBACEOUS TUMORS, SOMATIC, INCLUDED NULL 153280 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 40-KD LC40P;; LCP40 NULL 153290 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 49-KD LC49P;; LCP49 Percent 153300 YELLOW NAIL SYNDROME YNS;; LYMPHEDEMA AND YELLOW NAILS Asterisk 153310 CHARCOT-LEYDEN CRYSTAL PROTEIN; CLC LYSOPHOSPHOLIPASE OF EOSINOPHIL;; GALECTIN 10; LGALS10 Asterisk 153330 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 1; LAMP1 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN A; LAMPA;; LYSOSOMAL MEMBRANE GLYCOPROTEIN, 120-KD; LGP120;; CD107A Caret 153335 MOVED TO 182284 Asterisk 153337 LYMPHOCYTE ACTIVATION GENE 3; LAG3 CD223 ANTIGEN; CD223 Asterisk 153340 LYMPHOCYTE ANTIGEN CD5; CD5 Ly1, MOUSE, HOMOLOG OF;; T1;; LEU1 Caret 153360 MOVED TO 300257 Asterisk 153370 INTEGRIN, ALPHA-L; ITGAL LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN, TYPE 1, ALPHA SUBUNIT; LFA1A;; CD11A Asterisk 153380 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 20-KD CP20;; LCP20 Asterisk 153390 LYMPHOCYTE-SPECIFIC PROTEIN-TYROSINE KINASE; LCK ONCOGENE LCK;; p56(LCK) Number Sign 153400 LYMPHEDEMA-DISTICHIASIS SYNDROME; LPHDST LYMPHEDEMA WITH DISTICHIASIS LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED Asterisk 153420 CD58 MOLECULE; CD58 LYMPHOCYTE FUNCTION-ASSOCIATED ANTIGEN, TYPE 3; LFA3 Asterisk 153430 LYMPHOCYTE CYTOSOLIC PROTEIN 1; LCP1 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 64-KD; LC64P; CP64;; L-PLASTIN; LPL;; PLASTIN 2; PLS2 Asterisk 153432 LYMPHOCYTE-SPECIFIC PROTEIN; LSP1 pp52 Asterisk 153435 LYMPHOKINE-ACTIVATED KILLER CELL LIGAND; LAKL Asterisk 153440 LYMPHOTOXIN-ALPHA; LTA LYMPHOTOXIN-A;; TUMOR NECROSIS FACTOR, BETA; TNFB;; TNF, LYMPHOCYTE-DERIVED Asterisk 153450 LYSOZYME; LYZ Asterisk 153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1 LYSYL HYDROXYLASE; LLH; LH;; LYSYL HYDROXYLASE 1; LH1;; LYSINE HYDROXYLASE Asterisk 153455 LYSYL OXIDASE; LOX Asterisk 153456 LYSYL OXIDASE-LIKE 1; LOXL1 LOXL Caret 153460 MOVED TO 232600 NULL 153470 MACROCEPHALY, BENIGN FAMILIAL COLE-HUGHES SYNDROME Caret 153480 MOVED TO 158350 Number Sign 153550 CHROMOSOME 5q DELETION SYNDROME 5q- SYNDROME;; MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETION; MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED, INCLUDED Percent 153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1 MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, INCLUDED Asterisk 153615 CAPPING PROTEIN, GELSOLIN-LIKE; CAPG MACROPHAGE CAPPING PROTEIN; MCP Asterisk 153618 MANNOSE RECEPTOR, C-TYPE, 1; MRC1 MACROPHAGE MANNOSE RECEPTOR; MMR; MR;; CD206 Asterisk 153619 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3; LGALS3 MACROPHAGE GALACTOSE-SPECIFIC LECTIN; MAC2;; GALACTOSIDE-BINDING PROTEIN; GALBP;; GALECTIN 3; GAL3 GALECTIN 3 INTERNAL GENE, INCLUDED; GALIG, INCLUDED Asterisk 153620 MACROPHAGE MIGRATION INHIBITORY FACTOR; MIF MMIF Asterisk 153622 MACROPHAGE SCAVENGER RECEPTOR; MSR1 SCAVENGER RECEPTOR CLASS A, MEMBER 1; SCARA1;; SRA Percent 153630 MACROGLOSSIA Asterisk 153634 MACROPHAGE ANTIGEN CD68; CD68 MACROSIALIN Caret 153640 MOVED TO 155100 Caret 153650 MOVED TO 155100 Number Sign 153670 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2 Number Sign 153700 MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2 VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET;; VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET;; BEST MACULAR DYSTROPHY; BMD;; MACULAR DEGENERATION, POLYMORPHIC VITELLINE;; BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL Number Sign 153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 MACULOPATHY, AGE-RELATED, 2;; MACULAR DEGENERATION, SENILE Percent 153840 MACULAR DYSTROPHY, VITELLIFORM, 1; VMD1 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM Caret 153860 MOVED TO 169150 Percent 153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR MCDCA;; MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR; BCAMD Percent 153880 MACULAR DYSTROPHY, DOMINANT CYSTOID; DCMD CYSTOID MACULAR DYSTROPHY; CYMD;; MACULAR EDEMA, CYSTOID;; MDDC NULL 153890 MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE Caret 153900 MOVED TO 600110 Caret 154000 MOVED TO 145250 Number Sign 154020 HYPOMAGNESEMIA 2, RENAL; HOMG2 MAGNESIUM WASTING, RENAL;; MAGNESIUM LOSS, ISOLATED RENAL Asterisk 154030 Y-BOX BINDING PROTEIN 1; YBX1 NUCLEASE-SENSITIVE ELEMENT-BINDING PROTEIN 1; NSEP1;; MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, Y BOX-BINDING PROTEIN 1; YB1;; DNA-BINDING PROTEIN B; DBPB Asterisk 154040 RD RNA-BINDING PROTEIN; RDBP MAJOR HISTOCOMPATIBILITY COMPLEX GENE RD; RD;; NEGATIVE ELONGATION FACTOR POLYPEPTIDE E; NELFE Asterisk 154045 LENS INTRINSIC MEMBRANE PROTEIN 2, 19-KD; LIM2 MP19;; MP17 Asterisk 154050 MAJOR INTRINSIC PROTEIN OF LENS FIBER; MIP MP26;; MIP26;; LIM1;; AQUAPORIN 0; AQP0 Asterisk 154100 MALATE DEHYDROGENASE, MITOCHONDRIAL; MDH2 Asterisk 154200 MALATE DEHYDROGENASE, SOLUBLE; MDH1 MALATE DEHYDROGENASE, CYTOPLASMIC Number Sign 154230 46,XY SEX REVERSAL 4; SRXY4 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION;; CHROMOSOME 9p24.3 DELETION SYNDROME Asterisk 154235 MALE GERM CELL-ASSOCIATED KINASE; MAK Asterisk 154250 MALIC ENZYME 1; ME1 MALIC ENZYME, NADP(+)-DEPENDENT, CYTOSOLIC;; MALIC ENZYME, SOLUBLE; MES;; MALATE DEHYDROGENASE, NADP(+)-DEPENDENT, SOLUBLE Asterisk 154270 MALIC ENZYME 2; ME2 MALIC ENZYME, NAD(+)-DEPENDENT, MITOCHONDRIAL Percent 154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 MHS2 Percent 154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 MHS3 Asterisk 154280 SUPPRESSOR OF ANCHORAGE INDEPENDENCE 1; SAI1 TRANSFORMATION SUPPRESSOR 1; TFS1;; NEOPLASTIC TRANSFORMATION, SUPPRESSION OF;; MALIGNANT TRANSFORMATION SUPPRESSION 1; MTS1 NULL 154300 MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH Asterisk 154360 MALTASE-GLUCOAMYLASE; MGAM MGA Asterisk 154365 PROTEASOME 26S SUBUNIT, ATPase, 2; PSMC2 MAMMALIAN SUPPRESSOR OF sgv-1 OF YEAST; MSS1;; PROTEASE 26S, SUBUNIT 7; S7 NULL 154370 MAMMASTATIN Number Sign 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, WITH LIMB ANOMALIES;; NAGER ACROFACIAL DYSOSTOSIS;; AFD, NAGER TYPE;; NAGER SYNDROME Number Sign 154500 TREACHER COLLINS SYNDROME 1; TCS1 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF;; TREACHER COLLINS SYNDROME; TCS;; MANDIBULOFACIAL DYSOSTOSIS; MFD1 Asterisk 154540 MANNOSE 6-PHOSPHATE RECEPTOR, CATION-DEPENDENT; M6PR CDMPR;; SMALL MANNOSE 6-PHOSPHATE RECEPTOR; SMPR Asterisk 154545 LECTIN, MANNOSE-BINDING, SOLUBLE, 2; MBL2 MANNOSE-BINDING LECTIN; MBL;; MANNOSE-BINDING PROTEIN, SERUM; MBP1;; MANNAN-BINDING PROTEIN;; COLLECTIN 1; COLEC1 Asterisk 154550 MANNOSEPHOSPHATE ISOMERASE; MPI PHOSPHOMANNOSE ISOMERASE 1; PMI1; PMI Percent 154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE PHOSPHODIESTER GLYCOSIDE DEFICIENCY Asterisk 154580 MANNOSIDASE, ALPHA, CLASS 2C, MEMBER 1; MAN2C1 MANNOSIDASE, ALPHA A, CYTOPLASMIC; MANA Asterisk 154582 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 1; MAN2A1 MANNOSIDASE, ALPHA, II; MANA2 NULL 154600 MARCUS GUNN PHENOMENON JAW-WINKING;; MAXILLOPALPEBRAL SYNKINESIS Number Sign 154700 MARFAN SYNDROME; MFS MARFAN SYNDROME, TYPE I; MFS1 Caret 154705 MOVED TO 610380 NULL 154750 MARFANOID HYPERMOBILITY SYNDROME Number Sign 154780 MARSHALL SYNDROME; MRSHS Asterisk 154790 PROTEASE INHIBITOR 5; PI5 SERPIN FAMILY B, MEMBER 5; SERPINB5;; MASPIN Number Sign 154800 MASTOCYTOSIS, CUTANEOUS; MASTC URTICARIA PIGMENTOSA;; MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS;; MASTOCYTOSIS, DIFFUSE CUTANEOUS MASTOCYTOSIS, SYSTEMIC, INCLUDED; MASTSYS, INCLUDED;; MASTOCYTOSIS, INDOLENT, INCLUDED;; MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, INCLUDED;; MAST CELL LEUKEMIA, INCLUDED NULL 154850 MASTICATORY MUSCLES, HYPERTROPHY OF MASSETER MUSCLE HYPERTROPHY Asterisk 154870 MATRIX GAMMA-CARBOXYGLUTAMIC ACID; MGP GAMMA-CARBOXYGLUTAMIC ACID PROTEIN, MATRIX;; MATRIX Gla PROTEIN; MGLAP Asterisk 154950 MAX PROTEIN; MAX MYC-ASSOCIATED FACTOR X Percent 155000 MAXILLOFACIAL DYSOSTOSIS Percent 155050 MAXILLONASAL DYSPLASIA, BINDER TYPE BINDER SYNDROME Number Sign 155100 MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS BLEEDING DISORDER, PLATELET-TYPE, 6; BDPLT6;; MAY-HEGGLIN ANOMALY; MHA;; DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS;; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS;; GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA;; SEBASTIAN SYNDROME; SBS;; SEBASTIAN PLATELET SYNDROME;; MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS;; EPSTEIN SYNDROME; EPSTNS;; MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS;; MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS;; FECHTNER SYNDROME; FTNS;; MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS;; ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, FORMERLY; APSM, FORMERLY Asterisk 155120 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN; MDC NULL 155140 MECKEL DIVERTICULUM Percent 155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA PAI SYNDROME NULL 155150 MEDIAN-ULNAR NERVE COMMUNICATIONS MARTIN-GRUBER MEDIAN-ULNAR ANASTOMOSIS NULL 155200 MEDIOSTERNAL DEPIGMENTATION LINE Number Sign 155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC FMTC;; MTC1 Caret 155250 MOVED TO 130130 Number Sign 155255 MEDULLOBLASTOMA; MDB MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED;; MEDULLOBLASTOMA WITH EXTENSIVE NODULARITY, INCLUDED; MBEN, INCLUDED Number Sign 155310 VISCERAL MYOPATHY; VSCM MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME; MMIH;; INFANTILE VISCERAL MYOPATHY;; MEGADUODENUM AND/OR MEGACYSTIS;; BERDON SYNDROME;; PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL Percent 155350 MEGALENCEPHALY, AUTOSOMAL DOMINANT Number Sign 155500 MACRODACTYLY MEGALODACTYLY Asterisk 155540 MELANOCORTIN 3 RECEPTOR; MC3R MC3 RECEPTOR Asterisk 155541 MELANOCORTIN 4 RECEPTOR; MC4R MCR RECEPTOR Asterisk 155550 SILVER, MOUSE, HOMOLOG OF; SILV MELANOCYTE PROTEIN 17; PMEL17;; PREMELANOSOMAL PROTEIN; PMEL;; GP100;; ME20 Asterisk 155555 MELANOCORTIN 1 RECEPTOR; MC1R MELANOCYTE-STIMULATING HORMONE RECEPTOR; MSHR;; MELANOTROPIN RECEPTOR Percent 155600 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 MELANOMA, CUTANEOUS MALIGNANT; CMM;; MELANOMA, MALIGNANT;; FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME; FAMMM;; MELANOMA, FAMILIAL; MLM;; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; DNS;; B-K MOLE SYNDROME Number Sign 155601 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2 NULL 155700 MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR Number Sign 155720 MELANOMA, UVEAL Asterisk 155730 CHEMOKINE, CXC MOTIF, LIGAND 1; CXCL1 GRO1 ONCOGENE; GRO1;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 1; SCYB1;; GRO PROTEIN, ALPHA; GROA;; MELANOMA GROWTH STIMULATORY ACTIVITY, ALPHA; MGSA;; KERATINOCYTE-DERIVED CHEMOKINE, MOUSE, HOMOLOG OF; KC Asterisk 155735 MELANOMA ADHESION MOLECULE; MCAM MELANOMA-ASSOCIATED GLYCOPROTEIN MUC18; MUC18;; CD146;; GICERIN, CHICKEN, HOMOLOG OF Asterisk 155740 CD63 ANTIGEN; CD63 MELANOMA-ASSOCIATED ANTIGEN MLA1; MLA1;; MELANOMA-ASSOCIATED ANTIGEN ME491;; GRANULOPHYSIN Caret 155741 MOVED TO 600186 Asterisk 155750 MELANOMA-ASSOCIATED ANTIGEN p97; MFI2 p97 MELANOMA ANTIGEN; MAP97;; MELANOTRANSFERRIN Number Sign 155755 MELANOMA-ASTROCYTOMA SYNDROME MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME Asterisk 155760 AGGRECAN; ACAN AGGRECAN 1; AGC1;; AGCAN;; CHONDROITIN SULFATE PROTEOGLYCAN CORE PROTEIN 1; CSPG1 NULL 155770 MELANOMA TUMOR ANTIGEN GP90 CLASS 1 UNIQUE TUMOR ANTIGEN OF MELANOMA; GP90 Caret 155800 MOVED TO 145250 Percent 155900 MELKERSSON-ROSENTHAL SYNDROME MROS; MRS;; MELKERSSON SYNDROME Percent 155950 MELORHEOSTOSIS, ISOLATED MEL Caret 155960 REMOVED FROM DATABASE Asterisk 155970 MEMBRANE GLYCOPROTEIN MRC OX-2; MOX2 OX2;; CD200 Caret 155975 MOVED TO 112205 Percent 155980 MEMBRANOUS CRANIAL OSSIFICATION, DELAYED NULL 156000 MENIERE DISEASE Asterisk 156100 MN1 GENE; MN1 MENINGIOMA CHROMOSOME REGION 1; MGCR1 MN1/TEL FUSION GENE, INCLUDED NULL 156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA Number Sign 156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED NULL 156220 MERALGIA PARAESTHETICA, FAMILIAL Asterisk 156225 LAMININ, ALPHA-2; LAMA2 LAMININ 2, HEAVY CHAIN MEROSIN, INCLUDED;; LAMININ 2, INCLUDED;; LAMININ M, INCLUDED; LAMM, INCLUDED Percent 156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE Percent 156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE; MMDK MDK;; MESOMELIC DYSPLASIA WITH ANKLE, CARPAL, AND TARSAL SYNOSTOSIS;; MESOMELIC DYSPLASIA, THAI TYPE Number Sign 156240 MESOTHELIOMA, MALIGNANT; MESOM Number Sign 156250 METACHONDROMATOSIS; METCDS NULL 156300 METACHROMASIA OF FIBROBLASTS NULL 156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A Caret 156340 MOVED TO 156360 Asterisk 156349 METALLOTHIONEIN 1B; MT1B METALLOTHIONEIN IB Asterisk 156350 METALLOTHIONEIN 1A; MT1A METALLOTHIONEIN IA Asterisk 156351 METALLOTHIONEIN 1E; MT1E METALLOTHIONEIN IE Asterisk 156352 METALLOTHIONEIN 1F; MT1F METALLOTHIONEIN IF Asterisk 156353 METALLOTHIONEIN 1G; MT1G METALLOTHIONEIN IG Asterisk 156354 METALLOTHIONEIN 1H; MT1H METALLOTHIONEIN IH Asterisk 156355 METALLOTHIONEIN 1I; MT1I METALLOTHIONEIN I-I Asterisk 156356 METALLOTHIONEIN 1J; MT1J METALLOTHIONEIN IJ Asterisk 156357 METALLOTHIONEIN 1K; MT1K METALLOTHIONEIN IK Asterisk 156358 METALLOTHIONEIN 1L; MT1L METALLOTHIONEIN IL Asterisk 156359 METALLOTHIONEIN 1X; MT1X METALLOTHIONEIN IX Asterisk 156360 METALLOTHIONEIN 2A; MT2A METALLOTHIONEIN II; MT2 METALLOTHIONEIN II PROCESSED PSEUDOGENE, INCLUDED; MT2P1, INCLUDED Number Sign 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE; MCDJ METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE Asterisk 156490 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 1; NME1 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN;; METASTASIS INHIBITION FACTOR NM23;; NONMETASTATIC PROTEIN 23; NM23;; NONMETASTATIC PROTEIN 23, HOMOLOG 1; NM23H1;; NUCLEOSIDE DIPHOSPHATE KINASE-A; NDPKA;; GZMA-ACTIVATED DNase; GAAD;; AWD, DROSOPHILA, HOMOLOG OF; AWD NM23H1B, INCLUDED;; NM23 LONG VARIANT, INCLUDED; NM23LV, INCLUDED;; NME1-NME2 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED Asterisk 156491 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 2; NME2 NONMETASTATIC CELLS 2, PROTEIN EXPRESSED IN;; METASTASIS INHIBITION FACTOR NM23B;; NONMETASTATIC PROTEIN 23B; NM23B;; NONMETASTATIC PROTEIN 23, HOMOLOG 2; NM23H2;; NUCLEOSIDE DIPHOSPHATE KINASE-B; NDPKB Number Sign 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE Number Sign 156510 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; MDMHB Percent 156520 METATARSUS VARUS, TYPE I Number Sign 156530 METATROPIC DYSPLASIA METATROPIC DWARFISM Asterisk 156535 METHYL-CpG-BINDING DOMAIN PROTEIN 1; MBD1 PROTEIN CONTAINING METHYL-CpG-BINDING DOMAIN 1; PCM1;; CXXC FINGER PROTEIN 3; CXXC3 METHYL-CpG-BINDING PROTEIN 1 COMPLEX, INCLUDED;; MECP1 COMPLEX, INCLUDED Caret 156536 MOVED TO 600113 Asterisk 156540 METHYLTHIOADENOSINE PHOSPHORYLASE; MTAP MeSAdo PHOSPHORYLASE; MSAP Number Sign 156550 KNIEST DYSPLASIA Asterisk 156560 METHIONYL-tRNA SYNTHETASE; MARS MTRNS;; METRS;; METHIONINE tRNA LIGASE Asterisk 156565 N-METHYLPURINE DNA GLYCOSYLASE; MPG METHYLADENINE DNA GLYCOSYLASE; MDG;; 3-METHYLADENINE DNA GLYCOSYLASE;; 3MeAde DNA GLYCOSYLASE;; 3-ALKYLADENINE DNA GLYCOSYLASE; AAG;; ALKYLPURINE DNA N-GLYCOSYLASE; APNG Asterisk 156569 METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT Asterisk 156570 5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; MTR TETRAHYDROPTEROYLGLUTAMATE METHYLTRANSFERASE;; METHIONINE SYNTHASE; MS Caret 156575 MOVED TO 600682 Percent 156580 MICROCEPHALY, AUTOSOMAL DOMINANT Caret 156590 MOVED TO 152950 Number Sign 156600 MICROCORIA, CONGENITAL CHROMOSOME 13q32 DELETION SYNDROME;; MCOR;; MIOSIS, CONGENITAL Number Sign 156610 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1 SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS;; CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE;; MICHELIN TIRE BABY SYNDROME NULL 156620 MICROCEPHALY-DEAFNESS SYNDROME NULL 156700 MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES Asterisk 156790 MICROFIBRILLAR-ASSOCIATED PROTEIN 2; MFAP2 MICROFIBRIL-ASSOCIATED GLYCOPROTEIN; MAGP;; MAGP1 NULL 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD NULL 156830 MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL Asterisk 156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF MICROPHTHALMIA, MOUSE, HOMOLOG OF; MI Percent 156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 CATARACT, CONGENITAL, WITH MICROPHTHALMIA; CATM NULL 156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR MICROPHTHALMIA AND CORECTOPIA;; MICROPHTHALMIA WITH MYOPIA AND CORECTOPIA Caret 157100 MOVED TO 193220 Asterisk 157129 MICROTUBULE-ASSOCIATED PROTEIN 1B; MAP1B FUTSCH, DROSOPHILA, HOMOLOG OF; FUTSCH Asterisk 157130 MICROTUBULE-ASSOCIATED PROTEIN 2; MAP2 MAP, DENDRITE-SPECIFIC Asterisk 157132 MICROTUBULE-ASSOCIATED PROTEIN 4; MAP4 Asterisk 157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT MTBT1 Asterisk 157145 MICROSEMINOPROTEIN, BETA; MSMB MSPB Asterisk 157147 MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; MTTP MTP;; MTP, LARGE SUBUNIT NULL 157150 MICROSPHEROPHAKIA WITH HERNIA NULL 157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA Caret 157160 MOVED TO 157140 Number Sign 157170 HOLOPROSENCEPHALY 2; HPE2 NULL 157200 MIDPHALANGEAL HAIR MIDDIGITAL HAIR Percent 157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 MGR1;; MGAU; MA;; MIGRAINE Percent 157400 MILIA, MULTIPLE ERUPTIVE; MEM Caret 157500 MOVED TO 173310 Caret 157550 MOVED TO 117000 Asterisk 157560 MINISATELLITE 33.6 MS336;; D1S111 Asterisk 157570 MINISATELLITE 33.15 MS3315;; D7S437 Number Sign 157600 MIRROR MOVEMENTS 1; MRMV1 MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM;; MIRROR MOVEMENTS, CONGENITAL;; BIMANUAL SYNERGIA Number Sign 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 Caret 157650 MOVED TO 500002 Asterisk 157655 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1; NDUFS1 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT Asterisk 157660 MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF; RMRP LONG NONCODING RNA RMRP;; lncRNA RMRP;; RMRPR Caret 157670 MOVED TO 600438 Asterisk 157680 CELL DIVISION CYCLE 25C; CDC25C MITOSIS INDUCER CDC25; CDC25 Percent 157700 MITRAL VALVE PROLAPSE 1; MVP1 MITRAL VALVE PROLAPSE, MYXOMATOUS 1; MMVP1;; MYXOMATOUS MITRAL VALVE PROLAPSE 1;; MITRAL VALVE PROLAPSE, FAMILIAL; MVP PROLAPSED MITRAL VALVE; PMV;; MITRAL REGURGITATION, FAMILIAL;; FLOPPY MITRAL VALVE;; BARLOW SYNDROME;; MYXOMATOUS VALVULAR DISEASE, FAMILIAL;; CLICK-MURMUR SYNDROME Number Sign 157800 CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES Caret 157860 MOVED TO 142860 Percent 157900 MOEBIUS SYNDROME; MBS MOBIUS SYNDROME; MBS;; MOEBIUS SEQUENCE Caret 157910 MOVED TO 157900 Caret 157920 MOVED TO 309845 Percent 157950 PERMANENT MOLARS, SECONDARY RETENTION OF ANKYLOSIS OF TEETH;; DENTAL ANKYLOSIS;; MOLAR I REINCLUSION NULL 157960 MOLONEY LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF; MLVI2 Asterisk 157970 PROTEASOME 26S SUBUNIT, NON-ATPase, 7; PSMD7 MOLONEY LEUKEMIA VIRUS 34 PROVIRAL INTEGRATION SITE GENE, MOUSE, HOMOLOG OF; MOV34;; RPN8 Caret 157975 MOVED TO 172411 NULL 157980 MOMO SYNDROME MACROSOMIA, OBESITY, MACROCEPHALY, AND OCULAR ABNORMALITIES Number Sign 158000 MONILETHRIX; MNLIX Caret 158020 MOVED TO 600182 NULL 158030 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AJ9 MSK1 NULL 158040 ANTIGEN DEFINED BY MONOCLONAL ANTIBODY T87 MSK2 NULL 158050 MONKEY RED BLOOD CELL RECEPTOR; MRBC B-CELL RECEPTOR FOR MONKEY RED BLOOD CELLS Asterisk 158070 SOLUTE CARRIER FAMILY 3 (ACTIVATOR OF DIBASIC AND NEUTRAL AMINO ACID TRANSPORT), MEMBER 2; SLC3A2 MDU1;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY 4F2, HEAVY CHAIN;; 4F2 HEAVY CHAIN; 4F2HC;; CD98 HEAVY CHAIN; CD98; CD98HC MONOCLONAL ANTIBODY 44D7, INCLUDED NULL 158100 MONOPHALANGY OF GREAT TOE Plus 158105 CHEMOKINE, CC MOTIF, LIGAND 2; CCL2 SMALL INDUCIBLE CYTOKINE A2; SCYA2;; MONOCYTE CHEMOTACTIC PROTEIN 1; MCP1;; MONOCYTE CHEMOTACTIC AND ACTIVATING FACTOR; MCAF CORONARY ARTERY DISEASE, MODIFIER OF, INCLUDED;; CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV, INCLUDED Asterisk 158106 CHEMOKINE, CC MOTIF, LIGAND 7; CCL7 SMALL INDUCIBLE CYTOKINE A7; SCYA7;; MONOCYTE CHEMOTACTIC PROTEIN 3; MCP3 Asterisk 158120 MONOCYTE DIFFERENTIATION ANTIGEN CD14; CD14 MYELOID CELL-SPECIFIC LEUCINE-RICH GLYCOPROTEIN Caret 158130 MOVED TO 158105 Caret 158150 MOVED TO 172250 Number Sign 158170 CHROMOSOME 9p DELETION SYNDROME MONOSOMY 9p SYNDROME NULL 158250 NONDISJUNCTION MOSAICISM, CHROMOSOMAL;; MIXOPLOIDY, FAMILIAL Asterisk 158270 MOTILIN; MLN NULL 158280 MOTION SICKNESS Number Sign 158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;; MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;; HECHT SYNDROME Percent 158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY HMD Number Sign 158320 MUIR-TORRE SYNDROME; MRTES CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS Number Sign 158330 MULLERIAN APLASIA AND HYPERANDROGENISM MULLERIAN DUCT FAILURE AND HYPERANDROGENISM Asterisk 158340 MUCIN 1, TRANSMEMBRANE; MUC1 MUCIN 1, URINARY;; PEANUT-REACTIVE URINARY MUCIN; PUM;; MUCIN, TUMOR-ASSOCIATED EPITHELIAL;; POLYMORPHIC EPITHELIAL MUCIN; PEM;; EPITHELIAL MEMBRANE ANTIGEN; EMA Asterisk 158343 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 1; ABCC1 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 1; MRP1;; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN; MRP NULL 158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS Number Sign 158350 COWDEN SYNDROME 1; CWS1 CS; CD;; MULTIPLE HAMARTOMA SYNDROME; MHAM;; PTEN HAMARTOMA TUMOR SYNDROME; PHTS;; PTEN HAMARTOMA TUMOR SYNDROME WITH GRANULAR CELL TUMOR;; BANNAYAN-RILEY-RUVALCABA SYNDROME; BBRS;; BANNAYAN-ZONANA SYNDROME; BZS;; RILEY-SMITH SYNDROME;; RUVALCABA-MYHRE-SMITH SYNDROME; RMSS;; MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA;; MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED;; DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED;; CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD6, INCLUDED;; CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED;; PROTEUS-LIKE SYNDROME, INCLUDED Asterisk 158370 MUCIN 2, INTESTINAL; MUC2 Asterisk 158371 MUCIN 3A, INTESTINAL; MUC3A MUCIN 3, INTESTINAL; MUC3 Asterisk 158372 MUCIN 4, TRACHEOBRONCHIAL; MUC4 Asterisk 158373 MUCIN 5, SUBTYPES A AND C, TRACHEOBRONCHIAL; MUC5AC MUC5;; MUCIN 5, TRACHEOBRONCHIAL/GASTRIC Asterisk 158374 MUCIN 6, GASTRIC; MUC6 Asterisk 158375 MUCIN 7, SALIVARY; MUC7 MUCIN, SALIVARY, LOW MOLECULAR WEIGHT Asterisk 158378 SOLUTE CARRIER FAMILY 20 (PHOSPHATE TRANSPORTER), MEMBER 2; SLC20A2 PHOSPHATE TRANSPORTER, SODIUM-DEPENDENT, 2; PIT2;; GIBBON APE LEUKEMIA RETROVIRUS RECEPTOR 2; GLVR2;; MURINE LEUKEMIA VIRUS, AMPHOTROPIC, RECEPTOR FOR; MLVAR;; RECEPTOR FOR AMPHOTROPIC MURINE RETROVIRUS; RAM1 Asterisk 158380 ECOTROPIC VIRAL INTEGRATION SITE 2A; EVI2A MURINE MYELOID LEUKEMIA-ASSOCIATED GENE EVI2A, MOUSE, HOMOLOG OF;; MURINE MYELOID LEUKEMIA-ASSOCIATED GENE EVI2, MOUSE, HOMOLOG OF; EVI2;; EVDA Asterisk 158381 ECOTROPIC VIRAL INTEGRATION SITE 2B; EVI2B MURINE MYELOID LEUKEMIA-ASSOCIATED GENE EVI2B, MOUSE, HOMOLOG OF;; EVDB Percent 158400 MUSCLE CRAMPS, FAMILIAL Percent 158500 MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS Number Sign 158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A HMN VIIA;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA;; DHMN7A;; DHMNVP;; SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS;; HARPER-YOUNG MYOPATHY Number Sign 158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A HMN IIA;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; DHMN2A;; SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT, IIA;; CHARCOT-MARIE-TOOTH DISEASE, SPINAL, IIA Number Sign 158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT; SMALED1 SMALED;; SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT;; SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT;; KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT NULL 158650 MUSCULAR ATROPHY, MALIGNANT NEUROGENIC Caret 158700 MOVED TO 105400 NULL 158800 MUSCULAR DYSTROPHY, BARNES TYPE Number Sign 158810 BETHLEM MYOPATHY 1; BTHLM1 BETHLEM MYOPATHY;; MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES;; MUSCULAR DYSTROPHY, BENIGN CONGENITAL;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 5; LGMDD5 Number Sign 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1;; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FSHD; FMD;; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A; FSHD1A;; LANDOUZY-DEJERINE MUSCULAR DYSTROPHY FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED;; FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES, INCLUDED Number Sign 158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC;; FSHD2, DIGENIC;; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2;; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B; FSHD1B Caret 159000 MOVED TO 609200 Caret 159001 MOVED TO 181350 Percent 159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES NULL 159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE Percent 159300 MUSICAL PERFECT PITCH ABSOLUTE PITCH; AP Asterisk 159350 MUTATED IN COLORECTAL CANCERS; MCC NULL 159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE MYASTHENIA GRAVIS, LIMB-GIRDLE Asterisk 159405 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 1; MYBL1 MYB-RELATED GENE AMYB NULL 159410 MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS NULL 159420 MYDRIASIS, CONGENITAL Asterisk 159430 MYELIN BASIC PROTEIN; MBP MYELIN A1 PROTEIN, BASIC;; MYELIN MEMBRANE ENCEPHALITOGENIC PROTEIN HEMOPOIETIC MBP, INCLUDED; HMBP, INCLUDED Asterisk 159440 MYELIN PROTEIN ZERO; MPZ MYELIN GLYCOPROTEIN P-ZERO; P0;; MYELIN PROTEIN, PERIPHERAL; MPP Caret 159455 MOVED TO 170715 Asterisk 159460 MYELIN-ASSOCIATED GLYCOPROTEIN; MAG SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 4A; SIGLEC4A Asterisk 159465 MYELIN-OLIGODENDROCYTE GLYCOPROTEIN; MOG NULL 159500 MYELINATED OPTIC NERVE FIBERS Asterisk 159530 MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE; MPL THROMBOPOIETIN RECEPTOR; TPOR;; MYELOPROLIFERATIVE LEUKEMIA VIRUS, MOUSE, HOMOLOG OF; MPLV Asterisk 159540 LEUKEMIA-INHIBITORY FACTOR; LIF CHOLINERGIC DIFFERENTIATION FACTOR;; D-FACTOR Number Sign 159550 ATAXIA-PANCYTOPENIA SYNDROME; ATXPC MYELOCEREBELLAR DISORDER Asterisk 159552 MYELOID CELL LEUKEMIA SEQUENCE 1; MCL1 MYELOID CELL LEUKEMIA 1, LONG ISOFORM, INCLUDED; MCL1L, INCLUDED;; MYELOID CELL LEUKEMIA 1, SHORT ISOFORM, INCLUDED; MCL1S, INCLUDED Asterisk 159553 MYELOID CELL NUCLEAR DIFFERENTIATION ANTIGEN; MNDA Plus 159555 LYSINE-SPECIFIC METHYLTRANSFERASE 2A; KMT2A MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE; MLL; MLL1;; TRITHORAX, DROSOPHILA, HOMOLOG OF; TRX1;; HRX;; MYELOID/LYMPHOID LEUKEMIA GENE;; MIXED LINEAGE LEUKEMIA GENE;; ALL1 GENE; ALL1;; CXXC FINGER PROTEIN 7; CXXC7 MIXED LINEAGE LEUKEMIA, INCLUDED;; MLL/AF4 FUSION GENE, INCLUDED;; MLL/ENL FUSION GENE, INCLUDED;; MLL/AF9 FUSION GENE, INCLUDED;; MLL/GMPS FUSION GENE, INCLUDED;; MLL/FBP17 FUSION GENE, INCLUDED;; MLL/LPP FUSION GENE, INCLUDED;; MLL/GPH FUSION GENE, INCLUDED;; MLL/PNUTL1 FUSION GENE, INCLUDED;; MLL/CDK6 FUSION GENE, INCLUDED;; MLL/LASP1 FUSION GENE, INCLUDED;; MLL/GRAF FUSION GENE, INCLUDED;; MLL/ABI1 FUSION GENE, INCLUDED;; MLL/LAF4 FUSION GENE, INCLUDED;; MLL/CBL FUSION GENE, INCLUDED;; MLL/LARG FUSION GENE, INCLUDED;; MLL/AF10 FUSION GENE, INCLUDED;; MLL/AF15q14 FUSION GENE, INCLUDED;; MLL/AF6 FUSION GENE, INCLUDED;; MLL/CIP29 FUSION GENE, INCLUDED;; MLL/SEPT6 FUSION GENE, INCLUDED;; MLL/MAML2 FUSION GENE, INCLUDED;; MLL/KIAA1524 FUSION GENE, INCLUDED Asterisk 159556 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1; MLLT1 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 1;; ELEVEN-NINETEEN LEUKEMIA GENE; ENL ENL/MLL FUSION GENE, INCLUDED Asterisk 159557 AF4/FMR2 FAMILY, MEMBER 1; AFF1 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2; MLLT2;; MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2;; ALL1-FUSED GENE FROM CHROMOSOME 4; AF4 Asterisk 159558 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3; MLLT3 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 3;; ALL1-FUSED GENE FROM CHROMOSOME 9; AF9 Asterisk 159559 AFADIN; AFDN MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 4; MLLT4;; MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 4;; ALL1-FUSED GENE FROM CHROMOSOME 6; AF6;; CANOE, DROSOPHILA, HOMOLOG OF AF6/MLL FUSION GENE, INCLUDED NULL 159580 MYELOPATHY, HTLV-1-ASSOCIATED; HAM FAMILIAL SPASTIC PARAPARESIS, HTLV-1-ASSOCIATED Asterisk 159590 CD33 ANTIGEN; CD33 MYELOID DIFFERENTIATION ANTIGEN CD33;; SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 3; SIGLEC3;; p67 Percent 159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT MST;; LEUKEMIA, TRANSIENT;; TRANSIENT ABNORMAL MYELOPOIESIS; TAM Percent 159600 MYOCLONIC EPILEPSY, HARTUNG TYPE NULL 159700 MYOCLONUS AND ATAXIA RAMSAY HUNT SYNDROME NULL 159800 MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS Number Sign 159900 DYSTONIA 11, MYOCLONIC; DYT11 MYOCLONUS-DYSTONIA SYNDROME;; MYOCLONIC DYSTONIA;; DYSTONIA, ALCOHOL-RESPONSIVE;; MYOCLONUS, HEREDITARY ESSENTIAL Number Sign 159950 SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY Asterisk 159970 MYOGENIC DIFFERENTIATION ANTIGEN 1; MYOD1 MYOD;; MYOGENIC FACTOR 3; MYF3 Asterisk 159980 MYOGENIN; MYOG MYOGENIC FACTOR 4; MYF4 Asterisk 159990 MYOGENIC FACTOR 5; MYF5 Asterisk 159991 MYOGENIC FACTOR 6; MYF6 MUSCLE REGULATORY FACTOR 4; MRF4;; HERCULIN Asterisk 160000 MYOGLOBIN; MB Percent 160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT Caret 160100 MOVED TO 160120 Number Sign 160120 EPISODIC ATAXIA, TYPE 1; EA1 EPISODIC ATAXIA WITH MYOKYMIA; EAM;; ATAXIA, EPISODIC, WITH MYOKYMIA; AEM; AEMK;; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY;; MYOKYMIA WITH PERIODIC ATAXIA MYOKYMIA 1, INCLUDED;; CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED;; ISAACS-MERTENS SYNDROME, INCLUDED;; MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED Number Sign 160150 MYOPATHY, CENTRONUCLEAR, 1; CNM1 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT;; MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT Caret 160200 MOVED TO 161800 Percent 160300 MYOPATHY, DISTAL, INFANTILE-ONSET Number Sign 160500 MYOPATHY, DISTAL, 1; MPD1 MYOPATHY, LATE DISTAL HEREDITARY;; LAING DISTAL MYOPATHY;; MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT Caret 160550 MOVED TO 157640 Number Sign 160565 MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 MYOPATHY, TUBULAR AGGREGATE; TAM;; TUBULAR AGGREGATE MYOPATHY NULL 160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS Percent 160700 MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 Asterisk 160710 MYOSIN, HEAVY CHAIN 6, CARDIAC MUSCLE, ALPHA; MYH6 MYH, CARDIAC; MYHC;; MYOSIN, CARDIAC, HEAVY CHAIN, ALPHA; MYHCA Asterisk 160720 MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3 MYOSIN, SKELETAL, HEAVY CHAIN, EMBRYONIC 1; MYHSE1;; MYHC-EMB Asterisk 160730 MYOSIN, HEAVY CHAIN 1, SKELETAL MUSCLE, ADULT; MYH1 MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 1; MYHSA1;; MYOSIN, HEAVY CHAIN, IIx/d;; MYH2X/D;; MYHC2X/D;; MYHC IIx/d;; MHC IIx/d Asterisk 160740 MYOSIN, HEAVY CHAIN 2, SKELETAL MUSCLE, ADULT; MYH2 MYOSIN, SKELETAL, HEAVY CHAIN, ADULT 2; MYHSA2;; MYOSIN, HEAVY CHAIN, IIa; MYHC2A; MYH2A;; MYHC IIa;; MHC IIa Asterisk 160741 MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL; MYH8 MYOSIN, HEAVY CHAIN, PERINATAL;; MYHC-PERI;; MYHC-PN Asterisk 160742 MYOSIN, HEAVY CHAIN 4, SKELETAL MUSCLE; MYH4 MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN;; MYOSIN, HEAVY CHAIN, IIb; MYHC2B; MYH2B;; MYHC IIb;; MHC IIb Asterisk 160745 MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11 MYOSIN, SMOOTH MUSCLE, HEAVY CHAIN 11; SMHC;; SMOOTH MUSCLE MYOSIN HEAVY CHAIN; SMMHC MYH11/CBFB FUSION GENE, INCLUDED Percent 160750 MYOSITIS MYOPATHY, FAMILIAL IDIOPATHIC INFLAMMATORY; IIM Asterisk 160760 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA; MYH7 MYOSIN, CARDIAC, HEAVY CHAIN, BETA; MYHCB Asterisk 160770 MYOSIN, LIGHT CHAIN 4, ALKALI, ATRIAL, EMBRYONIC; MYL4 EMBRYONIC/ATRIAL MYOSIN ALKALI LIGHT CHAIN;; MYOSIN, ATRIAL/FETAL MUSCLE, LIGHT CHAIN Asterisk 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9 CELLULAR MYOSIN HEAVY CHAIN, TYPE A;; MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE A; NMMHCA;; NONMUSCLE MYOSIN IIA;; NMHC IIA Asterisk 160776 MYOSIN, HEAVY CHAIN 10, NONMUSCLE; MYH10 CELLULAR MYOSIN HEAVY CHAIN, TYPE B;; MYOSIN, HEAVY CHAIN, NONMUSCLE, TYPE B; NMMHCB;; NONMUSCLE MYOSIN IIB;; NMHC IIB Asterisk 160777 MYOSIN VA; MYO5A MYO5;; MYOSIN, HEAVY CHAIN 12; MYH12;; MYOXIN;; DILUTE, MOUSE, HOMOLOG OF Asterisk 160780 MYOSIN, LIGHT POLYPEPTIDE 1, ALKALI, SKELETAL, FAST; MYL1 MYOSIN, LIGHT CHAIN, FAST SKELETAL Asterisk 160781 MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW; MYL2 MLC2;; REGULATORY LIGHT CHAIN OF MYOSIN;; RLC OF MYOSIN;; MYOSIN, LIGHT CHAIN, REGULATORY VENTRICULAR Asterisk 160782 MYOSIN, LIGHT CHAIN 5, REGULATORY; MYL5 Asterisk 160790 MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW; MYL3 ESSENTIAL LIGHT CHAIN OF MYOSIN;; ELC OF MYOSIN;; MYOSIN, LIGHT CHAIN 1, SLOW, B; MLC1SB;; MYOSIN, LIGHT CHAIN 1, VENTRICULAR; MLC1V Asterisk 160793 MYOSIN-BINDING PROTEIN C, FAST TYPE; MYBPC2 MYBPCF Asterisk 160794 MYOSIN-BINDING PROTEIN C, SLOW TYPE; MYBPC1 MYBPCS Asterisk 160795 MYOSIN-BINDING PROTEIN H; MYBPH MYOSIN-BINDING PROTEIN, 86-KD Number Sign 160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT THOMSEN DISEASE; THD MYOTONIA LEVIOR, INCLUDED Number Sign 160900 MYOTONIC DYSTROPHY 1; DM1 DYSTROPHIA MYOTONICA 1;; DYSTROPHIA MYOTONICA; DM;; STEINERT DISEASE Number Sign 160980 CARNEY COMPLEX, TYPE 1; CNC1 CARNEY MYXOMA-ENDOCRINE COMPLEX;; CARNEY SYNDROME; CAR;; MYXOMA, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY;; NAME SYNDROME;; LAMB SYNDROME NULL 160990 MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS Asterisk 160993 N-MYRISTOYLTRANSFERASE 1; NMT1 MYRISTOYL-CoA:PROTEIN N-MYRISTOYLTRANSFERASE; NMT Asterisk 160994 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN M; HNRNPM HNRPM;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN M4; HNRNPM4; HNRPM4;; N-ACETYLGLUCOSAMINE RECEPTOR 1, FORMERLY; NAGR1, FORMERLY Asterisk 160995 ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT1 GlcNAc-T I;; N-ACETYLGLUCOSAMINYLTRANSFERASE I;; MGAT;; UDP-N-ACETYLGLUCOSAMINE:ALPHA-3-D-MANNOSIDE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE I; GLCT1 Asterisk 160998 NAD(P)H DEHYDROGENASE, QUINONE 2; NQO2 NAD(P)H:MENADIONE OXIDOREDUCTASE 1, DIOXIN-INDUCIBLE 2; NMOR2 Number Sign 161000 NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME; NFJS NAEGELI SYNDROME;; NFJ SYNDROME Asterisk 161015 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1; NDUFV1 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT;; UQOR1 Percent 161050 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1 TWENTY-NAIL DYSTROPHY;; ONYCHODYSTROPHY TOTALIS, ISOLATED NAIL GROWTH, INCLUDED NULL 161070 NAIL HIGH-SULFUR PROTEIN NULL 161080 NAIL LOW-SULFUR PROTEIN NULL 161100 NAILBEDS, PIGMENTATION OF Number Sign 161200 NAIL-PATELLA SYNDROME; NPS NPS1;; ONYCHOOSTEODYSPLASIA;; TURNER-KIESER SYNDROME;; FONG DISEASE Number Sign 161400 NARCOLEPSY 1; NRCLP1 NARCOLEPTIC SYNDROME 1 CATAPLEXY, INCLUDED NULL 161470 NASAL ALAR COLLAPSE, BILATERAL NULL 161480 NASAL BONES, ABSENCE OF Percent 161500 NASAL GROOVE, FAMILIAL TRANSVERSE NULL 161530 NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE Percent 161550 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2; NPCA2 Asterisk 161555 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 1; KLRC1 NATURAL KILLER CELL LECTIN; NKG2 NKG2A, INCLUDED;; NKG2B, INCLUDED Asterisk 161560 INTERLEUKIN 12A; IL12A IL12, p35 SUBUNIT;; CYTOTOXIC LYMPHOCYTE MATURATION FACTOR; CLMF;; NATURAL KILLER CELL STIMULATORY FACTOR, 35-KD SUBUNIT; NKSF1;; IL35, p35 SUBUNIT Asterisk 161561 INTERLEUKIN 12B; IL12B IL12, SUBUNIT p40;; INTERLEUKIN 23, p40 SUBUNIT;; CYTOTOXIC LYMPHOCYTE MATURATION FACTOR 2; CLMF2;; NATURAL KILLER CELL STIMULATORY FACTOR, 40-KD SUBUNIT; NKSF2 Asterisk 161565 NATURAL KILLER CELL TRIGGERING RECEPTOR; NKTR NATURAL KILLER TUMOR RECOGNITION SEQUENCE NULL 161600 NAVICULAR BONE, ACCESSORY Asterisk 161650 NEBULIN; NEB NULL 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT LEIGH SYNDROME, ADULT Number Sign 161800 NEMALINE MYOPATHY 3; NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, INCLUDED;; NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED;; MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED Percent 161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION; RFH1 NEPHROPATHY, FAMILIAL;; NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT;; RENAL FAILURE, ADULT-ONSET; AORF Percent 161950 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1; IGAN1 IGAN;; NEPHRITIS, IgA TYPE;; BERGER DISEASE Number Sign 162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ;; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY; FJHN;; NEPHROPATHY, FAMILIAL, WITH GOUT;; GOUTY NEPHROPATHY, FAMILIAL JUVENILE Asterisk 162010 NERVE GROWTH FACTOR RECEPTOR; NGFR TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 16; TNFRSF16;; p75(NTR);; CD271 NULL 162020 NERVE GROWTH FACTOR, ALPHA SUBUNIT; NGFA Asterisk 162030 NERVE GROWTH FACTOR; NGF NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB Caret 162040 MOVED TO 147960 Asterisk 162060 GROWTH-ASSOCIATED PROTEIN 43; GAP43 NEUROMODULIN;; NERVE GROWTH-RELATED PEPTIDE GAP43 Asterisk 162080 NEURAL RETINA LEUCINE ZIPPER; NRL NEURAL RETINA-SPECIFIC GENE;; D14S46E Number Sign 162091 SCHWANNOMATOSIS 1; SWNTS1 NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS Asterisk 162095 PLEIOTROPHIN; PTN NEURITE OUTGROWTH-PROMOTING FACTOR, HEPARIN-BINDING;; NEURITE GROWTH-PROMOTING FACTOR 1; NEGF1;; HEPARIN-BINDING GROWTH FACTOR 8; HBGF8 Asterisk 162096 MIDKINE; MDK MIDGESTATION AND KIDNEY PROTEIN; MK;; NEURITE GROWTH-PROMOTING FACTOR 2, FORMERLY; NEGF2, FORMERLY Number Sign 162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA NEURITIS WITH BRACHIAL PREDILECTION; NAPB;; BRACHIAL PLEXUS NEUROPATHY, HEREDITARY;; AMYOTROPHY, HEREDITARY NEURALGIC, WITH PREDILECTION FOR BRACHIAL PLEXUS Asterisk 162150 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1; PCSK1 NEUROENDOCRINE CONVERTASE 1; NEC1;; PROPROTEIN CONVERTASE 1; PC1;; PROHORMONE CONVERTASE 1;; PROHORMONE CONVERTASE 3; PC3 Asterisk 162151 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 2; PCSK2 PROPROTEIN CONVERTASE PC2; PC2;; NEUROENDOCRINE CONVERTASE 2; NEC2 Number Sign 162200 NEUROFIBROMATOSIS, TYPE I; NF1 NEUROFIBROMATOSIS, PERIPHERAL TYPE;; VON RECKLINGHAUSEN DISEASE Number Sign 162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL FSNF Caret 162220 MOVED TO 162200 AND 606764 Asterisk 162230 NEUROFILAMENT PROTEIN, HEAVY POLYPEPTIDE; NEFH NFH NULL 162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME NPDC SYNDROME;; DUODENAL CARCINOID SYNDROME Asterisk 162250 NEUROFILAMENT PROTEIN, MEDIUM POLYPEPTIDE; NEFM NEUROFILAMENT 3; NEF3;; NFM NULL 162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A NEUROFIBROMATOSIS, TYPE III, OF RICCARDI;; NF III; NF3;; NEUROFIBROMATOSIS, TYPE III, RICCARDI TYPE NEUROFIBROMAS, PALMAR CUTANEOUS, INCLUDED NULL 162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 NEUROFIBROMATOSIS, VARIANT FORM(S) OF;; NF IV;; NEUROFIBROMATOSIS, ATYPICAL Asterisk 162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL NEUROFILAMENT PROTEIN, LIGHT CHAIN; NFL;; NF68 Number Sign 162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B MEN IIB;; NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS;; WAGENMANN-FROBOESE SYNDROME;; MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY; MEN3, FORMERLY MUCOSAL NEUROMA SYNDROME, INCLUDED Asterisk 162320 TACHYKININ 1; TAC1 TACHYKININ 2, FORMERLY; TAC2, FORMERLY NEUROKININ A, INCLUDED; NKNA, INCLUDED;; NEUROKININ 2, INCLUDED; NK2, INCLUDED;; SUBSTANCE P, INCLUDED;; NEUROMEDIN L, INCLUDED;; NEUROPEPTIDE K, INCLUDED;; SUBSTANCE K, FORMERLY, INCLUDED Asterisk 162321 TACHYKININ RECEPTOR 2; TACR2 NEUROKININ A RECEPTOR; NKNAR;; NEUROKININ 2 RECEPTOR; NK2R;; SUBSTANCE K RECEPTOR Asterisk 162323 TACHYKININ RECEPTOR 1; TACR1 NEUROKININ 1 RECEPTOR; NK1R;; SUBSTANCE P RECEPTOR Asterisk 162330 TACHYKININ 3; TAC3 NEUROKININ B; NKB;; NEUROMEDIN K;; NKNB;; TACHYKININ 2, MOUSE, HOMOLOG OF; TAC2 Asterisk 162332 TACHYKININ RECEPTOR 3; TACR3 NEUROKININ 3 RECEPTOR; NK3R;; NEUROKININ B RECEPTOR Asterisk 162340 NEUROMEDIN B; NMB Asterisk 162341 NEUROMEDIN B RECEPTOR; NMBR Number Sign 162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B KUFS DISEASE, AUTOSOMAL DOMINANT;; CEROID LIPOFUSCINOSIS, NEURONAL, PARRY TYPE Asterisk 162360 NESCIENT HELIX LOOP HELIX 1; NHLH1 NSCL;; HEN1 Asterisk 162361 NESCIENT HELIX LOOP HELIX 2; NHLH2 NEURONAL SCL-LIKE PROTEIN 2; NSCL2;; HEN2 Percent 162370 NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX Caret 162375 MOVED TO 118200 NULL 162380 NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE Number Sign 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A HSAN IA;; HSAN1;; NEUROPATHY, HEREDITARY SENSORY, TYPE IA; HSN1A;; HSN IA;; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANT, TYPE 1A Number Sign 162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP POLYNEUROPATHY, FAMILIAL RECURRENT;; TOMACULOUS NEUROPATHY NULL 162600 NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE Asterisk 162640 NEUROPEPTIDE Y; NPY Y NEUROPEPTIDE Asterisk 162641 NEUROPEPTIDE Y RECEPTOR Y1; NPY1R NPYR Asterisk 162642 NEUROPEPTIDE Y RECEPTOR Y2; NPY2R Asterisk 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4 NEUROPEPTIDE Y RECEPTOR Y3; NPY3R;; FUSIN;; D2S201E;; LEUKOCYTE-DERIVED SEVEN-TRANSMEMBRANE-DOMAIN RECEPTOR; LESTR;; SEVEN-TRANSMEMBRANE-SEGMENT RECEPTOR, SPLEEN;; HM89;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 3; LAP3;; LPS-ASSOCIATED PROTEIN 3 Asterisk 162650 NEUROTENSIN; NTS Asterisk 162651 NEUROTENSIN RECEPTOR 1; NTSR1 Asterisk 162660 NEUROTROPHIN 3; NTF3 NEUROTROPHIC FACTOR 3; NT3 Caret 162661 MOVED TO 162662 Asterisk 162662 NEUROTROPHIN 4; NTF4 NEUROTROPHIN 5; NTF5;; NEUROTROPHIN 4/5;; NEUROTROPHIC FACTOR 5; NT5;; NEUROTROPHIC FACTOR 4; NT4 Percent 162700 NEUTROPENIA, CHRONIC FAMILIAL LEUKOPENIA, BENIGN FAMILIAL Number Sign 162800 CYCLIC NEUTROPENIA CYCLIC HEMATOPOIESIS Asterisk 162815 NEUTROPHIL AZUROCIDIN; NAZC AZUROCIDIN; AZU1;; CATIONIC ANTIMICROBIAL PROTEIN-37; CAP37 Percent 162820 NEUTROPHIL MIGRATION; NM NEUTROPHIL CHEMOTACTIC RESPONSE; NCR Number Sign 162830 NEUTROPHILIA, HEREDITARY Asterisk 162860 CD177 ANTIGEN; CD177 NEUTROPHIL-SPECIFIC ANTIGEN 1; NB1;; PRV1;; HNA2A Caret 162870 MOVED TO 146740 NULL 162880 NEUTROPHIL-SPECIFIC ANTIGEN: ND1 Asterisk 162890 NEUTROPHIL-SPECIFIC ANTIGEN: NE1 Number Sign 162900 NEVUS, EPIDERMAL NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC NEVUS SEBACEOUS, INCLUDED;; NEVUS, WOOLLY HAIR, INCLUDED Number Sign 163000 CAPILLARY MALFORMATIONS, CONGENITAL; CMC NEVI FLAMMEI, FAMILIAL MULTIPLE;; PORT-WINE STAIN;; CAPILLARY MALFORMATIONS; CMAL NULL 163050 NEVUS ANEMICUS Percent 163100 NEVUS FLAMMEUS OF NAPE OF NECK UNNA NEVUS;; ERYTHEMA NUCHAE Number Sign 163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM SFM SYNDROME;; LINEAR SEBACEOUS NEVUS SYNDROME;; SEBACEOUS NEVUS SYNDROME, LINEAR;; JADASSOHN NEVUS PHAKOMATOSIS; JNP;; NEVUS SEBACEUS OF JADASSOHN;; ORGANOID NEVUS PHAKOMATOSIS;; EPIDERMAL NEVUS SYNDROME, FORMERLY Asterisk 163260 NUCLEAR FACTOR ERYTHROID 2-LIKE 1; NFE2L1 NFE2-RELATED TRANSCRIPTION FACTOR;; NFE2-RELATED FACTOR 1; NRF1;; TRANSCRIPTION FACTOR 11; TCF11 Percent 163400 NIEVERGELT SYNDROME MESOMELIC DYSPLASIA, NIEVERGELT TYPE Number Sign 163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE NULL 163600 NIPPLES INVERTED MAMMILLAE INVERTITAE Percent 163700 NIPPLES, SUPERNUMERARY ACCESSORY NIPPLES;; POLYMASTIA;; POLYTHELIA, FAMILIAL Caret 163728 MOVED TO 163730 Plus 163729 NITRIC OXIDE SYNTHASE 3; NOS3 NITRIC OXIDE SYNTHASE, ENDOTHELIAL; ENOS CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO, INCLUDED;; ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED;; HYPERTENSION, PREGNANCY-INDUCED, SUSCEPTIBILITY TO, INCLUDED;; HYPERTENSION RESISTANT TO CONVENTIONAL THERAPY, INCLUDED Asterisk 163730 NITRIC OXIDE SYNTHASE 2A; NOS2A NOS2;; NOS2A, INDUCIBLE, HEPATOCYTE;; NITRIC OXIDE SYNTHASE, INDUCIBLE; INOS;; NITRIC OXIDE SYNTHASE, MACROPHAGE Asterisk 163731 NITRIC OXIDE SYNTHASE 1; NOS1 NITRIC OXIDE SYNTHASE, NEURONAL, INCLUDED;; NITRIC OXIDE SYNTHASE, PENILE NEURONAL, INCLUDED; PNNOS, INCLUDED Number Sign 163800 SICK SINUS SYNDROME 2; SSS2 SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION;; ATRIAL FIBRILLATION WITH BRADYARRHYTHMIA;; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL DOMINANT;; SINUS BRADYCARDIA SYNDROME, FAMILIAL, AUTOSOMAL DOMINANT NULL 163850 NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES Asterisk 163890 SYNUCLEIN, ALPHA; SNCA NON-A-BETA COMPONENT OF ALZHEIMER DISEASE AMYLOID, PRECURSOR OF; NACP;; NON-A4 COMPONENT OF AMYLOID, PRECURSOR OF Caret 163900 REMOVED FROM DATABASE Asterisk 163905 HIGH MOBILITY GROUP BOX 1; HMGB1 HIGH MOBILITY GROUP PROTEIN 1; HMG1;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG1;; NONHISTONE CHROMOSOMAL PROTEIN HMG1;; AMPHOTERIN Asterisk 163906 HIGH MOBILITY GROUP BOX 2; HMGB2 HIGH MOBILITY GROUP PROTEIN 2; HMG2;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG2;; NONHISTONE CHROMOSOMAL PROTEIN HMG2 Asterisk 163910 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2; HMGN2 HIGH MOBILITY GROUP PROTEIN 17; HMG17;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG17;; NONHISTONE CHROMOSOMAL PROTEIN HMG17 Asterisk 163920 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 1; HMGN1 HIGH MOBILITY GROUP PROTEIN 14; HMG14;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG14;; NONHISTONE CHROMOSOMAL PROTEIN HMG14 Number Sign 163950 NOONAN SYNDROME 1; NS1 NOONAN SYNDROME;; MALE TURNER SYNDROME;; FEMALE PSEUDO-TURNER SYNDROME;; TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME, INCLUDED Caret 163955 MOVED TO 163950 AND 610733 Asterisk 163970 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, NORADRENALINE), MEMBER 2; SLC6A2 NEUROTRANSMITTER TRANSPORTER, NORADRENALINE; NAT1;; NOREPINEPHRINE TRANSPORTER PROTEIN 1; NET; NET1 Asterisk 163980 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 6; CEACAM6 NONSPECIFIC CROSSREACTING ANTIGEN; NCA;; NORMAL CROSSREACTING ANTIGEN;; CEA-LIKE PROTEIN; CEAL NULL 164000 NOSE, ANOMALOUS SHAPE OF POTATO NOSE Asterisk 164005 NUCLEAR FACTOR I/X; NFIX NUCLEAR FACTOR I, X-TYPE;; CCAAT-BINDING TRANSCRIPTION FACTOR;; NF1A Asterisk 164008 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, ALPHA; NFKBIA NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR; NFKBI;; NUCLEAR FACTOR KAPPA-B INHIBITOR;; INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, ALPHA;; I-KAPPA-B-ALPHA; IKBA Asterisk 164009 NUCLEAR MITOTIC APPARATUS PROTEIN 1; NUMA1 NUMA1/RARA FUSION GENE, INCLUDED Asterisk 164010 CHMP FAMILY, MEMBER 1A; CHMP1A CHROMATIN-MODIFYING PROTEIN 1A;; CHARGED MULTIVESICULAR BODY PROTEIN 1A;; CHMP1;; PROCOLLAGEN, TYPE III, N-ENDOPEPTIDASE; PCOLN3;; METALLOPROTEASE 1; PRSM1;; METALLOPROTEASE, 33-KD Asterisk 164011 NUCLEAR FACTOR KAPPA-B, SUBUNIT 1; NFKB1 TRANSCRIPTION FACTOR NFKB1;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS 1 NFKB p105, INCLUDED;; NFKB p50, INCLUDED Asterisk 164012 NUCLEAR FACTOR KAPPA-B, SUBUNIT 2; NFKB2 TRANSCRIPTION FACTOR NFKB2;; NFKB, p52/p100 SUBUNIT;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS 2;; ONCOGENE LYT 10; LYT10;; LYMPHOCYTE TRANSLOCATION CHROMOSOME 10 NFKB, p100 SUBUNIT, INCLUDED;; NFKB, p52 SUBUNIT, INCLUDED Asterisk 164013 NUCLEAR FACTOR RELATED TO KAPPA-B BINDING PROTEIN; NFRKB Asterisk 164014 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG A; RELA NUCLEAR FACTOR KAPPA-B, SUBUNIT 3; NFKB3;; TRANSCRIPTION FACTOR NFKB3;; NFKB, p65 SUBUNIT;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS 3 RELA/C11ORF95 FUSION GENE, INCLUDED Asterisk 164015 MATRIN 3; MATR3 Caret 164016 MOVED TO 600489 Asterisk 164017 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; HNRNPA1 HNRPA1;; NUCLEAR RIBONUCLEOPROTEIN PARTICLE A1 PROTEIN Caret 164018 MOVED TO 600124 Caret 164019 MOVED TO 600124 Asterisk 164020 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN C; HNRNPC HNRPC NUCLEAR RIBONUCLEOPROTEIN PARTICLE C1 PROTEIN, INCLUDED;; NUCLEAR RIBONUCLEOPROTEIN PARTICLE C2 PROTEIN, INCLUDED Asterisk 164021 NUCLEAR RIBONUCLEOPROTEIN PARTICLE L PROTEIN Caret 164022 MOVED TO 300199 Asterisk 164031 NUCLEOLAR PROTEIN 1; NOL1 NUCLEOLAR ANTIGEN p120; p120;; PROLIFERATING CELL NUCLEOLAR PROTEIN P120 Asterisk 164035 NUCLEOLIN; NCL C23 Asterisk 164040 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 1; NPM1 NUCLEOPHOSMIN; NPM;; NUCLEOLAR PHOSPHOPROTEIN B23;; NUMATRIN NPM1/ALK FUSION GENE, INCLUDED Asterisk 164050 PURINE NUCLEOSIDE PHOSPHORYLASE; PNP NUCLEOSIDE PHOSPHORYLASE; NP;; PURINE-NUCLEOSIDE:ORTHOPHOSPHATE RIBOSYLTRANSFERASE Asterisk 164060 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 1; NAP1L1 NAP1; NAP1L;; NAPI-RELATED PROTEIN; NRP;; NUCLEOSOME ASSEMBLY PROTEIN I-RELATED PROTEIN Percent 164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2 NYSTAGMUS, CONGENITAL MOTOR, 2 Percent 164150 NYSTAGMUS, HEREDITARY VERTICAL Asterisk 164160 LEPTIN; LEP OBESE, MOUSE, HOMOLOG OF; OB Percent 164170 NYSTAGMUS, VOLUNTARY Asterisk 164175 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 1; POU2F1 OTF, LYMPHOID-SPECIFIC, 1; OTF1;; OCTAMER-BINDING TRANSCRIPTION FACTOR 1; OCT1 Asterisk 164176 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 2; POU2F2 OTF, LYMPHOID-SPECIFIC, 2; OTF2;; OCTAMER-BINDING TRANSCRIPTION FACTOR 2; OCT2 Asterisk 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1 OCTAMER-BINDING TRANSCRIPTION FACTOR 3; OCT3; OTF3;; OCTAMER-BINDING TRANSCRIPTION FACTOR 4; OCT4; OTF4 POU5F1/EWS FUSION GENE, INCLUDED NULL 164180 OCULOCEREBROCUTANEOUS SYNDROME OCCS;; ORBITAL CYST WITH CEREBRAL AND FOCAL DERMAL MALFORMATIONS;; DELLEMAN SYNDROME NULL 164185 OCULAR CICATRICIAL PEMPHIGOID; OCP NULL 164190 OCULAR DOMINANCE Number Sign 164200 OCULODENTODIGITAL DYSPLASIA; ODDD ODD SYNDROME;; OCULODENTOOSSEOUS DYSPLASIA; ODOD Percent 164210 HEMIFACIAL MICROSOMIA; HFM OCULOAURICULOVERTEBRAL SPECTRUM; OAVS;; GOLDENHAR SYNDROME;; OCULOAURICULOVERTEBRAL DYSPLASIA;; OAV DYSPLASIA;; FACIOAURICULOVERTEBRAL SEQUENCE;; FAV SEQUENCE Percent 164220 SCHILBACH-ROTT SYNDROME OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS;; CLEFT PALATE, HYPOTELORISM, AND HYPOSPADIAS;; BLEPHAROFACIOSKELETAL SYNDROME; BRSS Number Sign 164230 OBSESSIVE-COMPULSIVE DISORDER; OCD Number Sign 164280 FEINGOLD SYNDROME 1; FGLDS1 FEINGOLD SYNDROME;; OCULODIGITOESOPHAGODUODENAL SYNDROME; ODED;; ODED SYNDROME;; MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME; MODED;; DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUS OR DUODENUM;; MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME;; MMT SYNDROME;; MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE Number Sign 164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD MUSCULAR DYSTROPHY, OCULOPHARYNGEAL Percent 164310 OCULOPHARYNGODISTAL MYOPATHY; OPDM FACIOOCULOLARYNGOPHARYNGEAL MYOPATHY WITH DISTAL AND RESPIRATORY INVOLVEMENT; FOLP-DR Asterisk 164320 ODORANT-BINDING PROTEIN 2A; OBP2A ODORANT-BINDING PROTEIN; OBP NULL 164330 ODONTOMA-DYSPHAGIA SYNDROME Asterisk 164340 OLFACTORY MARKER PROTEIN; OMP Asterisk 164342 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY D, MEMBER 2; OR1D2 OLFACTORY RECEPTOR 1; OLFR1;; TESTICULAR ODORANT RECEPTOR OR17-4; OR17-4 Asterisk 164343 EARLY B-CELL FACTOR 1; EBF1 EBF;; OLFACTORY NEURONAL TRANSCRIPTION FACTOR 1; OLF1;; COLLIER/OLF1/EBF TRANSCRIPTION FACTOR 1; COE1 Asterisk 164345 OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG OMGP Asterisk 164350 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 1; OAS1 2-PRIME,5-PRIME-OLIGOISOADENYLATE SYNTHETASE; OIAS;; 2-PRIME,5-PRIME-A SYNTHETASE Asterisk 164360 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, ALPHA SUBUNIT 1; ATP5F1A ATP5A;; ATP5A1;; MITOCHONDRIAL ATP SYNTHETASE; ATPM;; MITOCHONDRIAL ATP SYNTHETASE, OLIGOMYCIN-RESISTANT; OMR;; MODIFIER OF MIN 2, MOUSE, HOMOLOG OF; MOM2 Number Sign 164400 SPINOCEREBELLAR ATAXIA 1; SCA1 SPINOCEREBELLAR ATROPHY I;; OLIVOPONTOCEREBELLAR ATROPHY I; OPCA1;; OPCA I;; CEREBELLOPARENCHYMAL DISORDER I; CPD1;; MENZEL TYPE OPCA;; OLIVOPONTOCEREBELLAR ATROPHY IV; OPCA4;; OPCA IV;; SCHUT-HAYMAKER TYPE OPCA Number Sign 164500 SPINOCEREBELLAR ATAXIA 7; SCA7 OLIVOPONTOCEREBELLAR ATROPHY III; OPCA3;; OPCA III;; OPCA WITH RETINAL DEGENERATION;; OPCA WITH MACULAR DEGENERATION AND EXTERNAL OPHTHALMOPLEGIA;; AUTOSOMAL DOMINANT CEREBELLAR ATAXIA, TYPE II;; ADCA, TYPE II Caret 164600 MOVED TO 164400 NULL 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR Asterisk 164690 V-ABL ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ABL2 ONCOGENE ABL2;; ONCOGENE ABLL;; ABELSON-RELATED GENE; ARG;; ONCOGENE ARG ABL2/ETV6 FUSION GENE, INCLUDED NULL 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V OPCA WITH DEMENTIA AND EXTRAPYRAMIDAL SIGNS Caret 164710 REMOVED FROM DATABASE Asterisk 164720 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 1; ETS1 ONCOGENE ETS1;; ETS1 ONCOGENE Asterisk 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1 ONCOGENE AKT1;; PROTEIN KINASE B-ALPHA;; PKB-ALPHA;; RAC SERINE/THREONINE PROTEIN KINASE Asterisk 164731 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 2; AKT2 ONCOGENE AKT2;; PROTEIN KINASE B, BETA; PKBB;; PKB-BETA Asterisk 164740 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG 2; ETS2 ONCOGENE ETS2;; ETS2 ONCOGENE;; ETS2 INTRONIC TRANSCRIPT; ETS2IT1 Number Sign 164745 OMODYSPLASIA 2; OMOD2 OMODYSPLASIA, AUTOSOMAL DOMINANT Number Sign 164750 OMPHALOCELE, AUTOSOMAL CHROMOSOME 1p31 DUPLICATION SYNDROME Asterisk 164755 VIRAL INTEGRATION SITE 1; VIS1 HIS1 Caret 164756 MOVED TO 164755 Asterisk 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF ONCOGENE BRAF;; BRAF1;; RAFB1 BRAF/AKAP9 FUSION GENE, INCLUDED;; BRAF/KIAA1549 FUSION GENE, INCLUDED Caret 164759 MOVED TO 167000 Asterisk 164760 V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; RAF1 ONCOGENE RAF1;; TRANSFORMING REPLICATION-DEFECTIVE MURINE RETROVIRUS 3611-MSV;; ONCOGENE MIL;; CRAF RAF1/SRGAP3 FUSION GENE, INCLUDED Asterisk 164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET RET PROTOONCOGENE RET/ELKS FUSION GENE, INCLUDED Asterisk 164762 V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG; CRK ONCOGENE CRK;; CRKII Asterisk 164765 CORTACTIN; CTTN ONCOGENE EMS1; EMS1 Asterisk 164770 COLONY-STIMULATING FACTOR 1 RECEPTOR; CSF1R MCSFR;; ONCOGENE FMS; FMS;; c-FMS;; CD115 ANTIGEN; CD115;; V-FMS MCDONOUGH FELINE SARCOMA VIRAL ONCOGENE HOMOLOG, FORMERLY Asterisk 164772 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG B; FOSB ONCOGENE FOSB;; GOSB DELTA-FOSB, INCLUDED Asterisk 164780 V-SKI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SKI ONCOGENE SK, CHICKEN VIRAL;; SK ONCOGENE; SKI Asterisk 164785 MOUSE DOUBLE MINUTE 2 HOMOLOG; MDM2 p53-BINDING PROTEIN MDM2;; ONCOPROTEIN MDM2;; HDM2 Asterisk 164790 NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG; NRAS ONCOGENE NRAS; NRAS1 Asterisk 164795 ONCOMODULIN; OCM PARVALBUMIN, BETA Percent 164800 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5; NDNC5 ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA;; ONYCHOLYSIS, HEREDITARY DISTAL Asterisk 164810 V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOG; FOS ONCOGENE FOS;; FBJ OSTEOSARCOMA VIRUS Asterisk 164820 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 1; WNT1 ONCOGENE INT1; INT1 MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 1, INCLUDED Caret 164830 REMOVED FROM DATABASE Asterisk 164831 LEUKEMIA VIRAL BMI-1 ONCOGENE, MOUSE, HOMOLOG OF; BMI1 Asterisk 164840 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED; MYCN ONCOGENE NMYC;; NMYC ONCOGENE;; AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED;; NEUROBLASTOMA MYC ONCOGENE Asterisk 164850 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG, LUNG CARCINOMA-DERIVED; MYCL V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED; MYCL1;; AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG 1, LUNG CARCINOMA-DERIVED;; ONCOGENE LMYC;; MYC-RELATED GENE FROM LUNG CANCER Asterisk 164860 MET PROTOONCOGENE; MET ONCOGENE MET;; HEPATOCYTE GROWTH FACTOR RECEPTOR; HGFR Asterisk 164865 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG-LIKE 1; MYCLK1 ONCOGENE MYC-LIKE-1;; AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG LIKE-1 Asterisk 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2 ONCOGENE ERBB2;; ONCOGENE NGL, NEUROBLASTOMA- OR GLIOBLASTOMA-DERIVED; NGL;; NEU;; TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER2; TKR1;; HER2 HERSTATIN, INCLUDED Asterisk 164873 ETS VARIANT GENE 3; ETV3 ONCOGENE PE1; PE1;; MITOGENIC ETS TRANSCRIPTIONAL SUPPRESSOR; METS Asterisk 164874 FORKHEAD BOX G1; FOXG1 FORKHEAD BOX G1B; FOXG1B;; FORKHEAD-LIKE 1; FKHL1;; ONCOGENE QIN;; BRAIN FACTOR 1; BF1 Asterisk 164875 VAV1 ONCOGENE; VAV1 ONCOGENE VAV;; ONCOGENE VAV1 Asterisk 164880 V-YES-1 YAMAGUCHI SARCOMA VIRAL ONCOGENE; YES1 ONCOGENE YES1;; YAMAGUCHI SARCOMA ONCOGENE Caret 164891 MOVED TO 164757 Percent 164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA OMM SYNDROME Caret 164905 MOVED TO 600326 Asterisk 164910 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG; REL ONCOGENE REL;; C-REL Asterisk 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT KIT ONCOGENE;; MAST CELL GROWTH FACTOR RECEPTOR;; STEM CELL FACTOR RECEPTOR; SCFR Asterisk 164940 GARDNER-RASHEED FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; FGR ONCOGENE FGR;; FGR ONCOGENE;; SRC2 ONCOGENE, FORMERLY Asterisk 164950 FIBROBLAST GROWTH FACTOR 3; FGF3 ONCOGENE INT2; INT2;; V-INT2 MURINE MAMMARY TUMOR VIRUS INTEGRATION SITE ONCOGENE HOMOLOG MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 2, INCLUDED Asterisk 164951 NOTCH RECEPTOR 4; NOTCH4 NOTCH, DROSOPHILA, HOMOLOG OF, 4;; ONCOGENE INT3; INT3;; NOTCH, DROSOPHILA, HOMOLOG OF, 3, FORMERLY; NOTCH3, FORMERLY MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 3, INCLUDED Asterisk 164953 ONCOGENE LIPOSARCOMA; LPSA D19S381E Asterisk 164958 NEPHROBLASTOMA OVEREXPRESSED GENE; NOV ONCOGENE NOV;; CCN3 Asterisk 164960 ONCOGENE PIM 1; PIM1 SERINE/THREONINE PROTEIN KINASE PIM1;; PIM Caret 164970 MOVED TO 191315 AND 191030 Asterisk 164975 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5A; WNT5A ONCOGENE WNT5A Asterisk 164980 FIBROBLAST GROWTH FACTOR 4; FGF4 HEPARIN SECRETORY TRANSFORMING PROTEIN 1; HSTF1;; ONCOGENE HST;; HUMAN STOMACH CANCER, TRANSFORMING FACTOR FROM;; FGF-RELATED ONCOGENE;; KAPOSI SARCOMA ONCOGENE; KFGF Percent 165000 OPHTHALMOPLEGIA, FAMILIAL STATIC EXTERNAL OPHTHALMOPLEGIA, NONPROGRESSIVE, CONGENITAL HEREDITARY Caret 165010 MOVED TO 164710 Asterisk 165020 V-ROS AVIAN UR2 SARCOMA VIRUS ONCOGENE HOMOLOG 1; ROS1 ONCOGENE ROS; ROS;; MCF3 ROS1/FIG FUSION GENE, INCLUDED Asterisk 165040 RAS-ASSOCIATED PROTEIN RAB8A; RAB8A RAS-ASSOCIATED PROTEIN RAB8; RAB8;; ONCOGENE MEL; MEL Asterisk 165060 TRANSFER RNA SELENOCYSTEINE 1; TRNAU1 tRNA SELENOCYSTEINE 1;; tRNA PHOSPHOSERINE; TRSP;; OPAL SUPPRESSOR PHOSPHOSERINE tRNA Asterisk 165070 FMS-RELATED TYROSINE KINASE 1; FLT1 ONCOGENE FLT; FLT;; VASCULAR ENDOTHELIAL GROWTH FACTOR/VASCULAR PERMEABILITY FACTOR RECEPTOR;; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 1; VEGFR1 Asterisk 165080 V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26 ONCOGENE HOMOLOG; ERG ONCOGENE ERG;; ETS-RELATED GENE ERG1, INCLUDED;; ERG2, INCLUDED;; ERG/TMPRSS2 FUSION GENE, INCLUDED;; ERG/EWS FUSION GENE, INCLUDED;; ERG/FUS FUSION GENE, INCLUDED Asterisk 165090 RELATED RAS VIRAL ONCOGENE HOMOLOG; RRAS ONCOGENE RRAS Asterisk 165095 ONCOSTATIN M; OSM NULL 165098 OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION Asterisk 165110 S13 AVIAN ERYTHROBLASTOSIS ONCOGENE HOMOLOG; SEA ONCOGENE SEA Asterisk 165120 V-YES-1 YAMAGUCHI SARCOMA VIRAL RELATED ONCOGENE HOMOLOG; LYN ONCOGENE LYN Asterisk 165140 ONCOGENE PVT1; PVT1 MYC ACTIVATOR NULL 165150 OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY Asterisk 165160 V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOG; JUN ONCOGENE JUN ACTIVATOR PROTEIN 1, INCLUDED; AP1, INCLUDED;; ENHANCER-BINDING PROTEIN AP1, INCLUDED Asterisk 165161 ONCOGENE JUN-B; JUNB Asterisk 165162 ONCOGENE JUN-D; JUND Asterisk 165170 SPLEEN FOCUS FORMING VIRUS PROVIRAL INTEGRATION ONCOGENE SPI1; SPI1 ONCOGENE SPI1;; SFFV VIRUS-INDUCED MURINE ERYTHROLEUKEMIA ONCOGENE, MOUSE, HOMOLOG OF;; HEMATOPOIETIC TRANSCRIPTION FACTOR PU.1 Asterisk 165180 MAS1 ONCOGENE; MAS1 MAS Asterisk 165190 FIBROBLAST GROWTH FACTOR 5; FGF5 Asterisk 165195 OPIOID RECEPTOR, DELTA-1; OPRD1 OPRD Asterisk 165196 OPIOID RECEPTOR, KAPPA-1; OPRK1 OPRK NULL 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT NULL 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS NULL 165210 ONCOGENE BMYC; BMYC Asterisk 165215 MDS1 AND EVI1 COMPLEX LOCUS; MECOM ECOTROPIC VIRAL INTEGRATION SITE 1; EVI1;; ONCOGENE EVI1;; MYELOID LEUKEMIA-ASSOCIATED GENE EVI1, MOUSE, HOMOLOG OF EVI1/GR6 FUSION GENE, INCLUDED;; EVI1/RBPH1 FUSION GENE, INCLUDED Asterisk 165220 GLIOMA-ASSOCIATED ONCOGENE HOMOLOG; GLI1 ONCOGENE GLI; GLI Asterisk 165230 GLI-KRUPPEL FAMILY MEMBER 2; GLI2 ONCOGENE GLI2 Asterisk 165240 GLI-KRUPPEL FAMILY MEMBER 3; GLI3 ONCOGENE GLI3 Asterisk 165250 GLI-KRUPPEL FAMILY MEMBER HKR1; HKR1 ONCOGENE HKR1 Asterisk 165260 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 22; ZSCAN22 GLI-KRUPPEL FAMILY MEMBER HKR2; HKR2;; ONCOGENE HKR2 Asterisk 165270 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 48; ZBTB48 GLI-KRUPPEL FAMILY MEMBER HKR3; HKR3;; ONCOGENE HKR3;; TELOMERIC ZINC FINGER-ASSOCIATED PROTEIN; TZAP Asterisk 165280 GLI-KRUPPEL FAMILY MEMBER 4; GLI4 ONCOGENE GLI4;; ONCOGENE HKR4 NULL 165290 ONCOGENE RMYC; RMYC Number Sign 165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT Asterisk 165320 LIVER CANCER ONCOGENE; LCO ONCOGENE LCA Asterisk 165330 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3; WNT3 ONCOGENE INT4; INT4 MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 4, INCLUDED Asterisk 165340 SKI-LIKE; SKIL ONCOGENE SNO; SNO Caret 165350 MOVED TO 311040 Asterisk 165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE HOMOLOG; CBL CASITAS B-LINEAGE LYMPHOMA PROTOONCOGENE;; C-CBL;; ONCOGENE CBL;; ONCOGENE CBL2;; RNF55 CBL/MLL FUSION GENE, INCLUDED Asterisk 165370 RAS HOMOLOG GENE FAMILY, MEMBER B; RHOB APLYSIA RAS-RELATED HOMOLOG 6; ARH6;; ARHB;; ONCOGENE RHO H6; RHOH6 Asterisk 165380 RAS HOMOLOG GENE FAMILY, MEMBER C; RHOC APLYSIA RAS-RELATED HOMOLOG 9; ARH9;; ARHC;; ONCOGENE RHO H9; RHOH9 Asterisk 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA APLYSIA RAS-RELATED HOMOLOG 12; ARH12;; ARHA;; ONCOGENE RHO H12; RHOH12; RHO12 Caret 165490 MOVED TO 165500 Number Sign 165500 OPTIC ATROPHY 1; OPA1 OPTIC ATROPHY, JUVENILE;; KJER-TYPE OPTIC ATROPHY;; OPTIC ATROPHY, KJER TYPE; OAK NULL 165510 OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS Number Sign 165550 OPTIC NERVE HYPOPLASIA, BILATERAL OPTIC NERVE APLASIA, BILATERAL, INCLUDED NULL 165590 OROFACIODIGITAL SYNDROME X; OFD10 OFDS X;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE X;; OROFACIODIGITAL SYNDROME WITH FIBULAR APLASIA;; ORAL-FACIAL-DIGITAL SYNDROME WITH FIBULAR APLASIA NULL 165600 ORBITAL MARGIN, HYPOPLASIA OF Caret 165630 MOVED TO 163200 Caret 165635 MOVED TO 258870 Asterisk 165640 ORNITHINE DECARBOXYLASE 1; ODC1 ORNITHINE DECARBOXYLASE PSEUDOGENE, INCLUDED; ODCP, INCLUDED;; ORNITHINE DECARBOXYLASE 2, INCLUDED; ODC2, INCLUDED Caret 165650 MOVED TO 165640 Percent 165660 OSLAM SYNDROME OSTEOSARCOMA, LIMB ANOMALIES, AND MACROCYTOSIS;; OSTEOSARCOMA, LIMB ANOMALIES, AND ERYTHROID MACROCYTOSIS WITH MEGALOBLASTIC MARROW NULL 165670 OSSIFIED EAR CARTILAGES NULL 165680 OSSICULAR MALFORMATIONS, FAMILIAL Percent 165700 THIEMANN DISEASE THIEMANN EPIPHYSEAL DISEASE;; OSTEOARTHROPATHY OF FINGERS, FAMILIAL Number Sign 165720 OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 OA;; OSTEOARTHROSIS;; OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO Number Sign 165800 SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS; OD Percent 166000 ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE OLLIER DISEASE;; OSTEOCHONDROMATOSIS;; DYSCHONDROPLASIA Number Sign 166200 OSTEOGENESIS IMPERFECTA, TYPE I; OI1 OI, TYPE I;; OSTEOGENESIS IMPERFECTA TARDA;; OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE Number Sign 166210 OSTEOGENESIS IMPERFECTA, TYPE II; OI2 OI, TYPE II;; OSTEOGENESIS IMPERFECTA CONGENITA, PERINATAL LETHAL FORM;; OSTEOGENESIS IMPERFECTA CONGENITA; OIC;; VROLIK TYPE OF OSTEOGENESIS IMPERFECTA Number Sign 166220 OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 OI, TYPE IV;; OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE NULL 166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES Caret 166240 MOVED TO 166200 Number Sign 166250 OSTEOGLOPHONIC DYSPLASIA; OGD OSTEOGLOPHONIC DWARFISM Number Sign 166260 GNATHODIAPHYSEAL DYSPLASIA; GDD OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS;; GNATHODIAPHYSEAL SCLEROSIS Number Sign 166300 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY;; MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT Number Sign 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; POH ECTOPIC OSSIFICATION, FAMILIAL;; OSTEOMA CUTIS NULL 166400 OSTEOMAS OF MANDIBLE NULL 166450 OSTEOMESOPYKNOSIS AXIAL OSTEOSCLEROSIS Asterisk 166490 SECRETED PHOSPHOPROTEIN 1; SPP1 OSTEOPONTIN; OPN;; BONE SIALOPROTEIN;; URINARY STONE PROTEIN;; EARLY T LYMPHOCYTE ACTIVATION 1; ETA1 Caret 166500 MOVED TO 300373 Number Sign 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE II;; MARBLE BONES, AUTOSOMAL DOMINANT;; OSTEOSCLEROSIS FRAGILIS GENERALISATA;; ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT Number Sign 166700 BUSCHKE-OLLENDORFF SYNDROME; BOS DERMATOOSTEOPOIKILOSIS;; DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS;; DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS;; OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED;; DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED;; OSTEOPOIKILOSIS WITH MELORHEOSTOSIS, INCLUDED NULL 166705 OSTEOPOIKILOSIS AND DACRYOCYSTITIS Number Sign 166710 OSTEOPOROSIS BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS; BMND;; OSTEOPOROSIS, POSTMENOPAUSAL;; OSTEOPOROSIS, INVOLUTIONAL FRACTURE, HIP, SUSCEPTIBILITY TO, INCLUDED Caret 166720 MOVED TO 130720 NULL 166740 OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES CORTICAL THICKENING OF LONG BONES WITH BOWING AND ICHTHYOSIS Number Sign 166750 OTODENTAL DYSPLASIA CHROMOSOME 11q13 DELETION SYNDROME;; OTODENTAL SYNDROME OTODENTAL SYNDROME WITH COLOBOMA, INCLUDED;; OCULOOTODENTAL SYNDROME, INCLUDED Number Sign 166760 OTITIS MEDIA, SUSCEPTIBILITY TO; OMS OTITIS MEDIA, CHRONIC/RECURRENT;; COME/ROM Number Sign 166780 OTOFACIOCERVICAL SYNDROME 1; OTFCS OFC; OFC1 Percent 166800 OTOSCLEROSIS 1; OTSC1 OTS Number Sign 166900 OVALOCYTOSIS, SOUTHEAST ASIAN; SAO OVALOCYTOSIS, MALAYSIAN-MELANESIAN-FILIPINO TYPE;; ELLIPTOCYTOSIS 4; EL4;; ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY;; HE, STOMATOCYTIC NULL 166910 OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS Asterisk 166945 NEIGHBOR OF BRCA1 GENE 1; NBR1 MEMBRANE COMPONENT, CHROMOSOME 17, SURFACE MARKER 2; M17S2 NULL 166950 TERATOMA, OVARIAN DERMOID CYST, OVARIAN NULL 166970 OVARIAN FIBROMATA NULL 166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION Number Sign 167000 OVARIAN CANCER OVARIAN CANCER, EPITHELIAL, INCLUDED Number Sign 167030 NEPHROLITHIASIS, CALCIUM OXALATE; CAON KIDNEY STONES;; UROLITHIASIS, CALCIUM OXALATE Asterisk 167040 OXYSTEROL-BINDING PROTEIN; OSBP OSBP1 Asterisk 167050 OXYTOCIN; OXT OXYTOCIN--NEUROPHYSIN I;; OT NEUROPHYSIN I, INCLUDED;; PREPROOXYTOCIN, INCLUDED Asterisk 167055 OXYTOCIN RECEPTOR; OXTR OTR Percent 167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; PHOAD PHO, AUTOSOMAL DOMINANT;; PACHYDERMOPERIOSTOSIS, AUTOSOMAL DOMINANT;; PDP, AUTOSOMAL DOMINANT Number Sign 167200 PACHYONYCHIA CONGENITA 1; PC1 PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE, FORMERLY;; JADASSOHN-LEWANDOWSKY SYNDROME, FORMERLY Number Sign 167210 PACHYONYCHIA CONGENITA 2; PC2 PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE, FORMERLY NULL 167220 PACMAN DYSPLASIA EPIPHYSEAL STIPPLING WITH OSTEOCLASTIC HYPERPLASIA Number Sign 167250 PAGET DISEASE OF BONE 3; PDB3 NULL 167300 PAGET DISEASE, EXTRAMAMMARY Number Sign 167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1; IBMPFD1 MULTISYSTEM PROTEINOPATHY 1; MSP1;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE;; PAGETOID AMYOTROPHIC LATERAL SCLEROSIS;; PAGETOID NEUROSKELETAL SYNDROME;; LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE Number Sign 167400 PAROXYSMAL EXTREME PAIN DISORDER PEXPD; PEPD;; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING;; RECTAL PAIN, FAMILIAL Asterisk 167405 PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 6; PCSK6 PAIRED BASIC AMINO ACID CLEAVING ENZYME 4; PACE4;; SPC4 Asterisk 167409 PAIRED BOX GENE 2; PAX2 Asterisk 167410 PAIRED BOX GENE 7; PAX7 PAIRED DOMAIN GENE HuP1; HUP1 PAX7/FKHR FUSION GENE, INCLUDED Asterisk 167411 PAIRED BOX GENE 1; PAX1 PAIRED DOMAIN GENE HuP48; HUP48 Asterisk 167413 PAIRED BOX GENE 4; PAX4 PAIRED DOMAIN GENE 4 Asterisk 167414 PAIRED BOX GENE 5; PAX5 PAIRED DOMAIN GENE 5;; B-CELL LINEAGE-SPECIFIC ACTIVATOR PROTEIN; BSAP Asterisk 167415 PAIRED BOX GENE 8; PAX8 PAIRED DOMAIN GENE 8 PAX8/PPARG FUSION GENE, INCLUDED Asterisk 167416 PAIRED BOX GENE 9; PAX9 PAIRED DOMAIN GENE 9 Asterisk 167420 PAIRED-RELATED HOMEOBOX GENE 1; PRRX1 PRX1;; PAIRED MESODERM HOMEOBOX 1; PMX1;; PHOX1 Percent 167500 PALATOPHARYNGEAL INCOMPETENCE VELOPHARYNGEAL INCOMPETENCE; VPI;; VELOPHARYNGEAL INSUFFICIENCY NULL 167600 PALMARIS LONGUS MUSCLE, ABSENCE OF NULL 167700 PALMOMENTAL REFLEX Percent 167730 NASOPALPEBRAL LIPOMA-COLOBOMA SYNDROME; NPLCS PALPEBRAL COLOBOMA-LIPOMA SYNDROME NULL 167750 PANCREAS, ANNULAR NULL 167755 PANCREAS, DORSAL, AGENESIS OF Asterisk 167770 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A REGENERATING ISLET-DERIVED, RAT, HOMOLOG OF; REG;; LITHOSTATHINE;; PANCREATIC STONE PROTEIN, SECRETORY; PSPS Asterisk 167771 REGENERATING ISLET-DERIVED 1-BETA; REG1B REG I-BETA;; REGENERATING ISLET-DERIVED, RAT, HOMOLOG-LIKE; REGL;; PANCREATIC STONE PROTEIN, SECRETORY, 2; PSPS2 Asterisk 167780 PANCREATIC POLYPEPTIDE/PANCREATIC ICOSAPEPTIDE; PPY PNP Asterisk 167790 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 1; SPINK1 PANCREATIC SECRETORY TRYPSIN INHIBITOR; PSTI;; TUMOR-ASSOCIATED TRYPSIN INHIBITOR; TATI Number Sign 167800 PANCREATITIS, HEREDITARY; PCTT HPC;; HP;; PANCREATITIS, CHRONIC PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED;; PANCREATITIS, CALCIFIC, INCLUDED;; PANCREATITIS, CHRONIC, PROTECTION AGAINST, INCLUDED Asterisk 167805 REGENERATING ISLET-DERIVED 3-ALPHA; REG3A PANCREATITIS-ASSOCIATED PROTEIN; PAP;; PAP1;; ISLET NEOGENESIS-ASSOCIATED PROTEIN; INGAP NULL 167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE Percent 167870 PANIC DISORDER 1; PAND1 PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED PANIC DISORDER WITH BLADDER CONDITIONS, INCLUDED;; PANIC DISORDER WITH JOINT LAXITY, INCLUDED Percent 167900 PAPILLOMATOSIS, CONFLUENT AND RETICULATED; CARP PAPILLOMATOSIS, RETICULATED AND CONFLUENT, OF GOUGEROT AND CARTEAUD;; PAPILLOMATOSIS, FAMILIAL CUTANEOUS NULL 167950 PAPILLOMATOSIS, FLORID, OF NIPPLE NULL 167959 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1; HPV18I1 PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1 NULL 167960 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2; HPV18I2 PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 Number Sign 168000 PARAGANGLIOMAS 1; PGL1 PARAGANGLIOMAS, FAMILIAL, 1;; PARAGANGLIOMATA; PGL;; GLOMUS TUMORS, FAMILIAL, 1;; CHEMODECTOMAS;; CAROTID BODY TUMORS; CBT1;; GLOMUS JUGULARE TUMORS;; PARAGANGLIOMA, CAROTID BODY;; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1 PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS, INCLUDED NULL 168100 PARALYSIS AGITANS, JUVENILE, OF HUNT PARKINSON DISEASE, JUVENILE, OF HUNT NULL 168200 PARAMOLAR TUBERCLE OF BOLK BOLK CUSP Number Sign 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC PARALYSIS PERIODICA PARAMYOTONICA PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED Caret 168350 MOVED TO 168300 Asterisk 168360 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 4; ELAVL4 HU-ANTIGEN D; HUD;; PARANEOPLASTIC ENCEPHALOMYELITIS ANTIGEN; PNEM Number Sign 168400 PARASTREMMATIC DWARFISM Asterisk 168440 PARATHYMOSIN; PTMS Asterisk 168450 PARATHYROID HORMONE; PTH PARATHYRIN;; PARATHORMONE Caret 168460 MOVED TO 145001 Asterisk 168461 CYCLIN D1; CCND1 PARATHYROID ADENOMATOSIS 1; PRAD1;; B-CELL CLL/LYMPHOMA 1; BCL1;; B-CELL LEUKEMIA 1 CCND1/IGHG1 FUSION GENE, INCLUDED;; CCND1/PTH FUSION GENE, INCLUDED;; CCND1/IGLC1 FUSION GENE, INCLUDED;; CCND1/FSTL3 FUSION GENE, INCLUDED Asterisk 168468 PARATHYROID HORMONE 1 RECEPTOR; PTH1R PARATHYROID HORMONE RECEPTOR 1; PTHR1;; PTH RECEPTOR; PTHR;; PARATHYROID HORMONE/PARATHYROID HORMONE-RELATED PROTEIN RECEPTOR;; PTH/PTHRP RECEPTOR Asterisk 168470 PARATHYROID HORMONE-LIKE HORMONE; PTHLH PARATHYROID HORMONE-RELATED PROTEIN; PTHRP;; PTH-RELATED PROTEIN;; PTHR, FORMERLY Number Sign 168500 PARIETAL FORAMINA 1; PFM1 PFM;; PARIETAL FORAMINA, SYMMETRIC;; FORAMINA PARIETALIA PERMAGNA; FPP;; CATLIN MARKS;; CRANIUM BIFIDUM OCCULTUM;; CRANIUM BIFIDUM, HEREDITARY Number Sign 168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD CLEIDOCRANIAL DYSPLASIA WITH PARIETAL FORAMINA Number Sign 168600 PARKINSON DISEASE, LATE-ONSET; PD PARK Number Sign 168601 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY ATYPICAL PARKINSON DISEASE, INCLUDED Number Sign 168605 PERRY SYNDROME PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION Caret 168610 MOVED TO 600274 NULL 168710 PAROTID PROLINE-RICH SALIVARY PROTEIN Pc Asterisk 168730 PROLINE-RICH PROTEIN, HaeIII SUBFAMILY, 1; PRH1 PAROTID ACIDIC PROTEIN; Pa;; ACIDIC SALIVARY PROLINE-RICH PROTEIN, HaeIII TYPE, 1 PAROTID ISOELECTRIC FOCUSING VARIANT PROTEIN, INCLUDED; PIF, INCLUDED;; PAROTID DOUBLE-BAND PROTEIN, INCLUDED; Db, INCLUDED Asterisk 168790 PROLINE-RICH PROTEIN, HaeIII SUBFAMILY, 2; PRH2 PAROTID PROLINE-RICH PROTEIN; Pr;; ACIDIC SALIVARY PROLINE-RICH PROTEIN, HaeIII TYPE, 2 NULL 168800 PAROTIDOMEGALY, HEREDITARY BILATERAL Asterisk 168810 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 2; PRB2 PAROTID SALIVARY PROTEIN SIZE VARIANT; Ps;; BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 2 CON1, INCLUDED Plus 168820 PARAOXONASE 1; PON1 PON;; PARAOXONASE, PLASMA;; ARYLESTERASE;; ESTERASE A; ESA PON1 ENZYME ACTIVITY, VARIATION IN, INCLUDED;; ORGANOPHOSPHATE POISONING, SUSCEPTIBILITY TO, INCLUDED;; CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED;; CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO, INCLUDED NULL 168830 PASSOVOY FACTOR DEFECT Asterisk 168840 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 3; PRB3 PAROTID SALIVARY GLYCOPROTEIN; G1;; BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 3 Caret 168850 MOVED TO 147891 Percent 168860 PATELLA APLASIA-HYPOPLASIA; PTLAH NULL 168885 PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA Asterisk 168890 PARVALBUMIN; PVALB Percent 168900 PATELLA, CHONDROMALACIA OF Percent 169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF Number Sign 169100 CHAR SYNDROME; CHAR PATENT DUCTUS ARTERIOSUS WITH FACIAL DYSMORPHISM AND ABNORMAL FIFTH DIGITS Number Sign 169150 MACULAR DYSTROPHY, PATTERNED, 1; MDPT1 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM;; MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY;; BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM NULL 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME Asterisk 169190 CYCLIN-DEPENDENT KINASE 18; CDK18 PCTAIRE PROTEIN KINASE 3; PCTK3;; PCTAIRE3 NULL 169200 PECHET FACTOR DEFICIENCY DYNIA FACTOR DEFICIENCY NULL 169300 PECTUS EXCAVATUM FUNNEL CHEST Number Sign 169400 PELGER-HUET ANOMALY; PHA Number Sign 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE, FORMERLY Percent 169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA NULL 169550 PELVIS-SHOULDER DYSPLASIA KOSENOW SYNDROME;; SCAPULOILIAC DYSOSTOSIS Number Sign 169600 BENIGN CHRONIC PEMPHIGUS; BCPM PEMPHIGUS, BENIGN FAMILIAL;; HAILEY-HAILEY DISEASE; HHD NULL 169610 PEMPHIGUS VULGARIS, FAMILIAL Asterisk 169615 DESMOGLEIN 3; DSG3 PEMPHIGUS VULGARIS ANTIGEN; PVA Asterisk 169700 PEPSINOGEN; PG PEPSINOGEN A; PGA;; PEPSINOGEN, GROUP I;; UROPEPSINOGEN, GROUP A NULL 169710 PEPSINOGEN 3, GROUP I; PGA3 PEPSINOGEN I--SECOND LOCUS Asterisk 169720 PEPSINOGEN 4, GROUP I; PGA4 Asterisk 169730 PEPSINOGEN 5, GROUP I; PGA5 Asterisk 169740 PROGASTRICSIN; PGC PEPSINOGEN C GASTRICSIN;; PEPSINOGEN, GROUP II Asterisk 169800 PEPTIDASE A; PEPA CARNOSINASE 2; CN2;; CNDP2;; NONSPECIFIC DIPEPTIDASE, CYTOSOLIC;; CARNOSINASE, TISSUE Asterisk 169900 PEPTIDASE B; PEPB Asterisk 170000 PEPTIDASE C; PEPC Number Sign 170100 PROLIDASE DEFICIENCY Asterisk 170200 PEPTIDASE E; PEPE Asterisk 170250 LEUCINE AMINOPEPTIDASE 3; LAP3 PEPTIDASE S; PEPS Asterisk 170260 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 1; TAP1 TRANSPORTER, ABC, MHC, 1;; ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 2; ABCB2;; ATP-BINDING CASSETTE TRANSPORTER, MAJOR HISTOCOMPATIBILITY COMPLEX, 1;; ABC TRANSPORTER, MHC, 1;; PEPTIDE TRANSPORTER PSF1;; TRANSPORTER ASSOCIATED WITH ANTIGEN PROCESSING 1;; PEPTIDE SUPPLY FACTOR 1; PSF1;; ANTIGEN PEPTIDE TRANSPORTER 1; APT1;; RING4 Asterisk 170261 TRANSPORTER, ATP-BINDING CASSETTE, MAJOR HISTOCOMPATIBILITY COMPLEX, 2; TAP2 TRANSPORTER, ABC, MHC, 2;; ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 3; ABCB3;; ATP-BINDING CASSETTE TRANSPORTER, MAJOR HISTOCOMPATIBILITY COMPLEX, 2;; ABC TRANSPORTER, MHC, 2;; RING11;; PEPTIDE SUPPLY FACTOR 2; PSF2;; PEPTIDE TRANSPORTER PSF2;; ANTIGEN PEPTIDE TRANSPORTER 2; APT2 Asterisk 170270 PEPTIDYLGLYCINE ALPHA-AMIDATING MONOOXYGENASE; PAM Asterisk 170280 PERFORIN 1; PRF1 PFN1;; PORE-FORMING PROTEIN; PFP Asterisk 170285 NUCLEOPORIN, 85-KD; NUP85 NUCLEOPORIN, 75-KD; NUP75;; FLJ12549;; FROUNT;; PERICENTRIN, FORMERLY; PCNT, FORMERLY Asterisk 170290 PERILIPIN 1; PLIN1 PLIN Caret 170300 MOVED TO 142680 Number Sign 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS ANDERSEN SYNDROME;; LONG QT SYNDROME 7; LQT7;; ANDERSEN-TAWIL SYNDROME; ATS;; PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE Number Sign 170400 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP Number Sign 170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA;; GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED NULL 170600 NORMOKALEMIC PERIODIC PARALYSIS Number Sign 170650 PERIODONTITIS, AGGRESSIVE, 1 PERIODONTITIS, JUVENILE; JPD; JP;; PERIODONTITIS, PREPUBERTAL; PPP NULL 170700 PERIPHERAL DYSOSTOSIS Asterisk 170710 PERIPHERIN; PRPH Asterisk 170715 PERIPHERAL MYELIN PROTEIN 2; PMP2 MYELIN P2 PROTEIN; MP2 NULL 170900 PERNICIOUS ANEMIA Caret 170950 REMOVED FROM DATABASE NULL 170980 PERONEAL NERVE, ACCESSORY DEEP NULL 170990 PEROXIDASE, SALIVARY; SAPX Asterisk 170993 PEROXISOME BIOGENESIS FACTOR 2; PEX2 PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3;; PEROXISOMAL MEMBRANE PROTEIN, 35-KD; PMP35;; PEROXISOMAL ASSEMBLY FACTOR 1; PAF1;; PEROXIN 2 Asterisk 170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3 PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;; PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70 Plus 170998 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-ALPHA; PPARA PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR; PPAR HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO, INCLUDED Percent 171000 PEYRONIE DISEASE Asterisk 171050 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1 P-GLYCOPROTEIN 1; PGY1;; MULTIDRUG RESISTANCE 1; MDR1;; GP170;; DOXORUBICIN RESISTANCE Asterisk 171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4 P-GLYCOPROTEIN 3; PGY3;; MULTIDRUG RESISTANCE 3; MDR3 NULL 171100 PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN Asterisk 171150 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 1; SULT1A1 SULFOTRANSFERASE, PHENOL-PREFERRING 1; STP1;; PHENOL SULFOTRANSFERASE, THERMOSTABLE FORM; STP;; ST1A3;; PHENOL SULFOTRANSFERASE; PPST Asterisk 171190 PHENYLETHANOLAMINE N-METHYLTRANSFERASE; PNMT PENT Number Sign 171200 THIOUREA TASTING; THIOT PHENYLTHIOCARBAMIDE TASTING, INCLUDED;; PTC TASTING, INCLUDED;; PROPYLTHIOURACIL TASTING, INCLUDED;; PROP TASTING, INCLUDED Number Sign 171300 PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO Caret 171350 MOVED TO 115310 Number Sign 171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA;; PTC SYNDROME;; SIPPLE SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED NULL 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME NULL 171450 PHLEBECTASIA OF LIPS NULL 171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA FACIOAURICULORADIAL DYSPLASIA Asterisk 171490 PHOSDUCIN; PDC Asterisk 171500 ACID PHOSPHATASE 1, SOLUBLE; ACP1 PHOSPHATASE, ACID, OF ERYTHROCYTE Asterisk 171640 PHOSPHATASE, ACID, TYPE 5, TARTRATE-RESISTANT; ACP5 TARTRATE-RESISTANT ACID PHOSPHATASE; TRAP Asterisk 171650 ACID PHOSPHATASE 2, LYSOSOMAL; ACP2 PHOSPHATASE, ACID, OF TISSUES;; LYSOSOMAL ACID PHOSPHATASE;; ACP2--BETA POLYPEPTIDE NULL 171660 PHOSPHATASE, ACID, OF TISSUES LYSOSOMAL ACID PHOSPHATASE;; ACP3--ALPHA POLYPEPTIDE Caret 171700 REMOVED FROM DATABASE Percent 171720 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 ALPQTL1;; ALKALINE PHOSPHATASE, ELEVATED SERUM;; HYPERPHOSPHATASEMIA, BENIGN FAMILIAL Asterisk 171740 ALKALINE PHOSPHATASE, INTESTINAL; ALPI IAP Asterisk 171750 ALKALINE PHOSPHATASE, INTESTINAL, FETAL FORM ALPIF Asterisk 171760 ALKALINE PHOSPHATASE, LIVER; ALPL ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE;; ALKALINE PHOSPHATASE, TISSUE-NONSPECIFIC; TNSALP; TNAP Asterisk 171790 PHOSPHATASE, PROSTATE-SPECIFIC ACID; ACPP PROSTATIC ACID PHOSPHATASE; PAP Asterisk 171800 ALKALINE PHOSPHATASE, PLACENTAL; ALPP PLAP; PALP;; REGAN ISOZYME SECRETED ALKALINE PHOSPHATASE, INCLUDED; SEAP, INCLUDED;; ALKALINE PHOSPHATASE, SECRETED, INCLUDED Asterisk 171810 ALKALINE PHOSPHATASE, PLACENTAL-LIKE 2; ALPPL2 ALKALINE PHOSPHATASE, GERM CELL; ALPG; GCAP;; ALKALINE PHOSPHATASE, TESTICULAR AND THYMUS;; NAGAO ISOENZYME Asterisk 171820 PHOSPHATASE, SALIVARY ACID, A; SACP; ACPS Asterisk 171830 PHOSPHATASE, SALIVARY ACID, B Asterisk 171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 1; PIK3R1 PHOSPHATIDYLINOSITOL 3-KINASE-ASSOCIATED p85-ALPHA; GRB1;; PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 85-KD, ALPHA;; p85-ALPHA Asterisk 171834 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, ALPHA; PIK3CA PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, ALPHA;; p110-ALPHA;; PI3K-ALPHA;; PIK3-ALPHA Asterisk 171835 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 2; PFKFB2 PFKFB, CARDIAC Asterisk 171840 PHOSPHOFRUCTOKINASE, PLATELET TYPE; PFKP PFK, PLATELET TYPE;; PFK, FIBROBLAST TYPE; PFKF Caret 171850 MOVED TO 171860 AND 610681 Asterisk 171860 PHOSPHOFRUCTOKINASE, LIVER TYPE; PFKL PFK, LIVER TYPE Caret 171880 MOVED TO 610681 Asterisk 171885 PHOSPHODIESTERASE 7A, cAMP-SPECIFIC, HIGH AFFINITY; PDE7A PDE1/PDE2, YEAST, HUMAN COMPLEMENT OF; HCP1 Asterisk 171890 PHOSPHODIESTERASE 1A; PDE1A HCAM1 Asterisk 171891 PHOSPHODIESTERASE 1B; PDE1B PDE1B1 Asterisk 171900 PHOSPHOGLUCOMUTASE 1; PGM1 Asterisk 172000 PHOSPHOGLUCOMUTASE 2; PGM2 Asterisk 172100 PHOSPHOGLUCOMUTASE 3; PGM3 N-ACETYLGLUCOSAMINE-PHOSPHATE MUTASE 1; AGM1 NULL 172110 PHOSPHOGLUCOMUTASE 4 PGM4;; MILK PGM Percent 172150 6-PHOSPHOGLUCONOLACTONASE DEFICIENCY PGLS DEFICIENCY;; 6PGL DEFICIENCY Asterisk 172200 6-PHOSPHOGLUCONATE DEHYDROGENASE, ERYTHROCYTE; PGD PGD, ERYTHROCYTE; 6PGD Asterisk 172250 PHOSPHOGLYCERATE MUTASE 1; PGAM1 PHOSPHOGLYCERATE MUTASE A; PGAMA;; PHOSPHOGLYCERATE MUTASE, BRAIN; PGAMB Asterisk 172270 PHOSPHOGLYCERATE KINASE 2; PGK2 PHOSPHOGLYCERATE KINASE OF SPERMATOZOA; PGKB;; PGK, TESTICULAR Asterisk 172280 PHOSPHOGLYCOLATE PHOSPHATASE; PGP NULL 172290 PHOSPHOGLYCOPROTEIN 1; PGP1 Caret 172300 MOVED TO 171860 Asterisk 172400 GLUCOSE-6-PHOSPHATE ISOMERASE; GPI GLUCOSE PHOSPHATE ISOMERASE;; PHOSPHOHEXOSE ISOMERASE; PHI;; PHOSPHOGLUCOSE ISOMERASE; PGI;; AUTOCRINE MOTILITY FACTOR; AMF;; NEUROLEUKIN; NLK Asterisk 172405 PHOSPHOLAMBAN; PLN Asterisk 172410 PHOSPHOLIPASE A2, GROUP IB; PLA2G1B PHOSPHOLIPASE A2, PANCREATIC;; PHOSPHOLIPASE A2 POLYPEPTIDE A; PLA2A;; PLA2 Asterisk 172411 PHOSPHOLIPASE A2, GROUP IIA; PLA2G2A PHOSPHOLIPASE A2, SYNOVIAL; PLA2S; PLAS1;; PHOSPHOLIPASE A2 POLYPEPTIDE B; PLA2B;; MODIFIER OF MIN-1, MOUSE, HOMOLOG OF; MOM1 Asterisk 172420 PHOSPHOLIPASE C, GAMMA-1; PLCG1 PLC1;; PHOSPHOLIPASE C-148; PLC148 Plus 172425 PHOSPHOLIPID TRANSFER PROTEIN; PLTP LIPID TRANSFER PROTEIN II HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 9, INCLUDED; HDLCQ9, INCLUDED Asterisk 172430 ENOLASE 1; ENO1 ENOLASE, ALPHA;; PHOSPHOPYRUVATE HYDRATASE; PPH CRYSTALLIN, TAU, INCLUDED;; ENOLASE, NONNEURONAL, INCLUDED; NNE, INCLUDED Asterisk 172439 PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE; PAICS AIR CARBOXYLASE; AIRC;; SAICAR SYNTHETASE Asterisk 172450 PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; PPAT GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE; GPAT Asterisk 172460 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; MTHFD1 METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;; CYCLOHYDROLASE/FORMYLTETRAHYDROFOLATE SYNTHETASE, NADP(+)-DEPENDENT;; C1-TETRAHYDROFOLATE SYNTHASE, CYTOPLASMIC;; C1-THF-SYNTHASE Asterisk 172470 PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1; PHKG1 Asterisk 172471 PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2; PHKG2 Asterisk 172480 PHOSPHOSERINE PHOSPHATASE; PSPH PSP Asterisk 172490 PHOSPHORYLASE KINASE, BETA SUBUNIT; PHKB NULL 172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION HERRMANN SYNDROME Number Sign 172700 PICK DISEASE OF BRAIN LOBAR ATROPHY OF BRAIN;; DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS Number Sign 172800 PIEBALD TRAIT; PBT PIEBALDISM NULL 172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS Asterisk 172860 SERPIN PEPTIDASE INHIBITOR, CLADE F, MEMBER 1; SERPINF1 PIGMENT EPITHELIUM-DERIVED FACTOR; PEDF Number Sign 172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA NULL 172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY ROBIN SEQUENCE AND OLIGODACTYLY Percent 172900 PIGMENTED PURPURIC ERUPTION NULL 173000 PILONIDAL SINUS Number Sign 173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II; IGHD2 IGHD II;; GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL DOMINANT;; PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT Asterisk 173110 POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1 PITUITARY-SPECIFIC TRANSCRIPTION FACTOR 1; PIT1;; GROWTH HORMONE FACTOR 1; GHF1 Asterisk 173120 SECRETORY GRANULE NEUROENDOCRINE PROTEIN 1; SGNE1 PITUITARY POLYPEPTIDE 7B2; P7B2;; SECRETOGRANIN V Number Sign 173200 PITYRIASIS RUBRA PILARIS; PRP Asterisk 173310 PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP PROGESTAGEN-DEPENDENT ENDOMETRIAL PROTEIN;; PREGNANCY-ASSOCIATED ENDOMETRIAL ALPHA-2-GLOBULIN;; PLACENTAL PROTEIN 14; PP14;; GLYCODELIN-A; GdA;; GLYCODELIN-S; GdS BETA-LACTOGLOBULIN, INCLUDED Asterisk 173320 RIBONUCLEASE/ANGIOGENIN INHIBITOR 1; RNH1 RNH;; RIBONUCLEASE INHIBITOR; RI;; PLACENTAL RIBONUCLEASE INHIBITOR; PRI;; CYTOSOLIC RIBONUCLEASE INHIBITOR; CRI Asterisk 173321 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 6; SERPINB6 PROTEASE INHIBITOR 6; PI6;; PLACENTAL THROMBIN INHIBITOR; PTI;; SPI3, MOUSE, HOMOLOG OF; SPI3 Asterisk 173325 JUNCTION PLAKOGLOBIN; JUP PLAKOGLOBIN; PKGB;; DESMOPLAKIN III; DP3;; DP III;; CATENIN, GAMMA Asterisk 173335 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 1; PDNP1;; PLASMA CELL MEMBRANE GLYCOPROTEIN PC-1; PC1;; PCA1;; MEMBRANE COMPONENT, CHROMOSOME 6, SURFACE MARKER 1; M6S1;; LY41, MOUSE, HOMOLOG OF;; ALKALINE PHOSPHODIESTERASE I;; NUCLEOTIDE PYROPHOSPHATASE; NPPS Asterisk 173340 PLASMINOGEN-LIKE B1; PLGLB1 PLASMINOGEN-RELATED GENE B; PRGB Asterisk 173350 PLASMINOGEN; PLG ANGIOSTATIN, INCLUDED;; MICROPLASMIN, INCLUDED Asterisk 173360 SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 1; SERPINE1 PLASMINOGEN ACTIVATOR INHIBITOR 1; PAI1;; ENDOTHELIAL PLASMINOGEN ACTIVATOR INHIBITOR Asterisk 173370 PLASMINOGEN ACTIVATOR, TISSUE; PLAT TPA Asterisk 173390 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 2; SERPINB2 PLASMINOGEN ACTIVATOR INHIBITOR, TYPE 2; PAI2;; PLANH2;; MONOCYTE ARGININE-SERPIN;; MONOCYTE-DERIVED PLASMINOGEN ACTIVATOR INHIBITOR;; UROKINASE INHIBITOR Asterisk 173391 PLASMINOGEN ACTIVATOR RECEPTOR, UROKINASE-TYPE; PLAUR UPA RECEPTOR; UPAR;; CD87 ANTIGEN; CD87 Asterisk 173393 PLATELET-ACTIVATING FACTOR RECEPTOR; PTAFR PAFR NULL 173395 PLATELET ADENYLATE CYCLASE ACTIVITY NULL 173400 PLATELET AGGREGATION, SPONTANEOUS Asterisk 173410 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, BETA; PDGFRB PDGFR;; PDGFR1 PDGFRB/ETV6 FUSION GENE, INCLUDED;; PDGFRB/D10S170 FUSION GENE, INCLUDED;; PDGFRB/RABPT5 FUSION GENE, INCLUDED;; PDGFRB/HIP1 FUSION GENE, INCLUDED;; PDGFRB/MYO18A FUSION GENE, INCLUDED NULL 173420 PLATELET DISORDER, UNDEFINED Asterisk 173430 PLATELET-DERIVED GROWTH FACTOR, ALPHA POLYPEPTIDE; PDGFA PLATELET-DERIVED GROWTH FACTOR, A CHAIN Asterisk 173445 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1; PECAM1 CD31 NULL 173450 PLATELET FACTOR 3 DEFICIENCY Asterisk 173460 PLATELET FACTOR 4; PF4 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 4; SCYB4;; CHEMOKINE, CXC MOTIF, LIGAND 4; CXCL4 Asterisk 173461 PLATELET FACTOR 4, VARIANT 1; PF4V1 PLATELET FACTOR 4-ALTERNATE; PF4A;; PF4-ALT;; CXCL4-LIKE 1; CXCL4L1;; CXCL4 VARIANT 1; CXCL4V1 Asterisk 173470 INTEGRIN, BETA-3; ITGB3 PLATELET GLYCOPROTEIN IIIa; GP3A;; GP IIIa;; PLATELET FIBRINOGEN RECEPTOR, BETA SUBUNIT;; CD61 Asterisk 173490 PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA; PDGFRA PDGFR2 PDGFRA/BCR FUSION GENE, INCLUDED;; PDGFRA/FIP1L1 FUSION GENE, INCLUDED Percent 173500 PLATELET GROUPS--Ko SYSTEM; HPA-2 SIB(a), INCLUDED Asterisk 173510 CD36 ANTIGEN; CD36 LEUKOCYTE DIFFERENTIATION ANTIGEN CD36;; PLATELET GLYCOPROTEIN IV; GP4;; GLYCOPROTEIN IIIb; GP3B;; GP IIIb;; THROMBOSPONDIN RECEPTOR;; COLLAGEN RECEPTOR, PLATELET;; FATTY ACID TRANSLOCASE; FAT Asterisk 173511 GLYCOPROTEIN V, PLATELET; GP5 PLATELET GLYCOPROTEIN V;; GP V Asterisk 173515 GLYCOPROTEIN IX, PLATELET; GP9 PLATELET GLYCOPROTEIN IX;; GP IX Percent 173540 PLATELET GROUPS--Pl(E) SYSTEM NULL 173560 PLATELET MEMBRANE FLUIDITY; PMF Asterisk 173570 PLECKSTRIN; PLEK PLATELET P47;; PLATELET AND LEUKOCYTE C KINASE SUBSTRATE NULL 173580 PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED NULL 173590 PLATELET SIGNAL PROCESSING DEFECT Number Sign 173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS PSP Asterisk 173610 SELECTIN P; SELP PLATELET ALPHA-GRANULE MEMBRANE PROTEIN;; CD62;; GRANULOCYTE MEMBRANE PROTEIN; GRMP;; GMP140;; P-SELECTIN Number Sign 173650 KINDLER SYNDROME; KNDLRS POIKILODERMA, HEREDITARY ACROKERATOTIC;; BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY;; POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE NULL 173700 POIKILODERMA, HEREDITARY SCLEROSING Caret 173750 MOVED TO 173800 AND 157900 Percent 173800 POLAND SYNDROME POLAND SYNDACTYLY;; POLAND ANOMALY;; POLAND SEQUENCE PECTORALIS MUSCLE, ABSENCE OF, INCLUDED Asterisk 173850 POLIOVIRUS RECEPTOR; PVR PVS;; CD155;; NECTIN-LIKE PROTEIN 5; NECL5 Caret 173865 MOVED TO 604680 Asterisk 173870 POLY(ADP-RIBOSE) POLYMERASE 1; PARP1 POLY(ADP-RIBOSE) POLYMERASE; PPOL; PARP;; POLY(ADP-RIBOSE) SYNTHETASE;; ADP-RIBOSYLTRANSFERASE; ADPRT;; ADPRT1 Caret 173871 MOVED TO 173870 Asterisk 173880 POLYMERIC IMMUNOGLOBULIN RECEPTOR; PIGR POLY-Ig RECEPTOR;; TRANSMEMBRANE SECRETORY COMPONENT Number Sign 173900 POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD1 POLYCYSTIC KIDNEY DISEASE, ADULT; ADPKD;; POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I; APKD1;; POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, FORMERLY Asterisk 173910 POLYCYSTIN 2; PKD2 PKD2 GENE;; PC2;; TRPP2 Number Sign 174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1 MCKD;; MEDULLARY CYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT; ADMCKD1;; POLYCYSTIC KIDNEYS, MEDULLARY TYPE Number Sign 174050 POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS; PCLD1 Caret 174100 MOVED TO 192350 Number Sign 174200 POLYDACTYLY, POSTAXIAL, TYPE A1; PAPA1 POSTAXIAL POLYDACTYLY, TYPE A; PAPA;; POLYDACTYLY, POSTAXIAL POSTAXIAL POLYDACTYLY, TYPE B, INCLUDED; PAPB, INCLUDED Number Sign 174300 OROFACIODIGITAL SYNDROME V; OFD5 OFDS V;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE V;; OROFACIODIGITAL SYNDROME, THURSTON TYPE;; THURSTON SYNDROME;; POLYDACTYLY, POSTAXIAL, WITH MEDIAN CLEFT OF UPPER LIP NULL 174310 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA POLYDACTYLY-MYOPIA SYNDROME; PMS Number Sign 174400 POLYDACTYLY, PREAXIAL I; PPD1 POLYDACTYLY, PREAXIAL;; THUMB POLYDACTYLY THENAR HYPOPLASIA, INCLUDED;; FROMONT ANOMALY, INCLUDED Number Sign 174500 POLYDACTYLY, PREAXIAL II; PPD2 POLYDACTYLY OF TRIPHALANGEAL THUMB;; TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED;; TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, INCLUDED;; TPT-PS SYNDROME, INCLUDED;; TRIPHALANGEAL THUMB, INCLUDED; TPT, INCLUDED Percent 174600 POLYDACTYLY, PREAXIAL III; PPD3 INDEX FINGER POLYDACTYLY Number Sign 174700 POLYDACTYLY, PREAXIAL IV; PPD4 POLYSYNDACTYLY, UNCOMPLICATED CROSSED POLYDACTYLY, TYPE I, INCLUDED; CP1, INCLUDED NULL 174750 POLYKARYOCYTOSIS INDUCER; FUSE Asterisk 174760 POLYMERASE, DNA, BETA; POLB Asterisk 174761 POLYMERASE (DNA-DIRECTED), DELTA 1, CATALYTIC SUBUNIT; POLD1 POLYMERASE, DNA, DELTA; POLD Asterisk 174762 POLYMERASE, DNA, EPSILON; POLE POLYMERASE, DNA, EPSILON-1; POLE1 Asterisk 174763 POLYMERASE, DNA, GAMMA; POLG POLYMERASE, DNA, GAMMA-1; POLG1;; POLG, CATALYTIC SUBUNIT;; POLG-ALPHA; POLGA Percent 174770 ACTINIC PRURIGO POLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE JUVENILE SPRING ERUPTION OF EARS, INCLUDED Number Sign 174800 MCCUNE-ALBRIGHT SYNDROME; MAS ALBRIGHT SYNDROME POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED Number Sign 174810 FAMILIAL EXPANSILE OSTEOLYSIS; FEO POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD;; MCCABE DISEASE;; EXPANSILE OSTEOLYSIS, FAMILIAL; EOF Asterisk 174880 LYMPHOCYTE CYTOSOL POLYPEPTIDE, 100-KD LCP100;; CP100;; POLYPEPTIDE OF LYMPHOCYTE CYTOSOL, 100-KD; P0TLC100 Number Sign 174900 JUVENILE POLYPOSIS SYNDROME; JPS POLYPOSIS, JUVENILE INTESTINAL; PJI;; JUVENILE INTESTINAL POLYPOSIS; JIP;; POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT JUVENILE POLYPOSIS OF STOMACH, INCLUDED;; JUVENILE POLYPOSIS COLI, INCLUDED Caret 175000 MOVED TO 174900 Percent 175020 POLYPOSIS, GASTRIC Number Sign 175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT JP/HHT SYNDROME;; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA;; JPS/HHT;; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI;; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION Number Sign 175100 FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 ADENOMATOUS POLYPOSIS OF THE COLON; APC;; FAMILIAL POLYPOSIS OF THE COLON; FPC;; POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME, INCLUDED; GS, INCLUDED;; BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED; BTPS2, INCLUDED;; FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED; AFAP, INCLUDED;; ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED; AAPC, INCLUDED Number Sign 175200 PEUTZ-JEGHERS SYNDROME; PJS POLYPOSIS, HAMARTOMATOUS INTESTINAL;; POLYPS-AND-SPOTS SYNDROME NULL 175400 POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE POLYPS, SCATTERED, DISCRETE INTESTINAL NULL 175450 POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES NULL 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES CRONKHITE-CANADA SYNDROME NULL 175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI FUNDIC GLAND POLYPOSIS Number Sign 175510 GIST-PLUS SYNDROME; GISTPS POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL, FORMERLY Percent 175690 POLYSYNDACTYLY, CROSSED Number Sign 175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE NULL 175750 POPLITEAL CYST BAKER CYST Number Sign 175780 BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES; BSVD1 HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY;; BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE;; RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT;; BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY;; LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY;; PORENCEPHALY, TYPE 1, FORMERLY; T1P, FORMERLY;; PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT, FORMERLY; ADT1P, FORMERLY;; PORENCEPHALY 1, FORMERLY; POREN1, FORMERLY Number Sign 175800 POROKERATOSIS 1, MULTIPLE TYPES; POROK1 POROKERATOSIS OF MIBELLI Percent 175850 POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; POROK2 POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED; PPPD;; POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1; PPPD1;; POROKERATOSIS PLANTARIS PALMARIS ET DISSEMINATA;; POROKERATOSIS PALMARIS ET PLANTARIS DISSEMINATA Percent 175860 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE II; PPKP2 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP Number Sign 175900 POROKERATOSIS 3, MULTIPLE TYPES; POROK3 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1 Number Sign 176000 PORPHYRIA, ACUTE INTERMITTENT; AIP PORPHYRIA, SWEDISH TYPE;; PORPHOBILINOGEN DEAMINASE DEFICIENCY;; PBGD DEFICIENCY;; UROPORPHYRINOGEN SYNTHASE DEFICIENCY;; UPS DEFICIENCY PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED;; PORPHYRIA, CHESTER TYPE, INCLUDED; PORC, INCLUDED Caret 176010 MOVED TO 176000 NULL 176090 PORPHYRIA CUTANEA TARDA, TYPE I PCT, TYPE I;; PCT, 'SPORADIC' TYPE Number Sign 176100 PORPHYRIA CUTANEA TARDA PCT;; PORPHYRIA CUTANEA TARDA, TYPE II;; PCT, TYPE II;; PCT, 'FAMILIAL' TYPE;; PORPHYRIA, HEPATOCUTANEOUS TYPE;; UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY;; UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC, INCLUDED; HEP, INCLUDED Number Sign 176200 VARIEGATE PORPHYRIA; VP PORPHYRIA VARIEGATA;; PORPHYRIA, SOUTH AFRICAN TYPE;; PROTOPORPHYRINOGEN OXIDASE DEFICIENCY;; PPOX DEFICIENCY VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT, INCLUDED NULL 176240 POSTAXIAL OLIGODACTYLY, TETRAMELIC NULL 176250 POSTERIOR COLUMN ATAXIA BIEMOND ATAXIA Asterisk 176256 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 2; KCNC2 Asterisk 176257 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 6; KCNA6 HBK2 Asterisk 176258 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 1; KCNC1 KV3.1;; NGK2 Asterisk 176260 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1; KCNA1 MK1, MOUSE, HOMOLOG OF;; KV1.1 Asterisk 176261 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1 ISK;; MINIMAL POTASSIUM ION CHANNEL; MINK Asterisk 176262 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 2; KCNA2 MK2, MOUSE, HOMOLOG OF;; KV1.2 Asterisk 176263 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 3; KCNA3 MK3, MOUSE, HOMOLOG OF;; POTASSIUM CHANNEL 3; PCN3;; KV1.3 Asterisk 176264 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 3; KCNC3 Asterisk 176265 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 4; KCNC4 Asterisk 176266 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 4; KCNA4 POTASSIUM CHANNEL, FETAL SKELETAL MUSCLE;; POTASSIUM CHANNEL, TYPE A;; POTASSIUM CHANNEL, RAPIDLY INACTIVATING;; POTASSIUM CHANNEL, CARDIAC;; POTASSIUM CHANNEL 2; PCN2;; HK1 Asterisk 176267 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 5; KCNA5 POTASSIUM CHANNEL 1; PCN1;; POTASSIUM CHANNEL, INSULINOMA AND ISLET CELL;; HCK1;; HK2 Asterisk 176268 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 7; KCNA7 Caret 176269 MOVED TO 176266 Number Sign 176270 PRADER-WILLI SYNDROME; PWS PRADER-LABHART-WILLI SYNDROME PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;; PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED Asterisk 176290 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1 PREADIPOCYTE FACTOR 1; PREF1;; FETAL ANTIGEN 1; FA1;; pG2 Asterisk 176300 TRANSTHYRETIN; TTR PREALBUMIN, THYROXINE-BINDING; TBPA;; PALB Number Sign 176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS GUTTMACHER SYNDROME Asterisk 176310 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 1; PBX1 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR PSEUDOGENE 1, INCLUDED; PBXP1, INCLUDED;; PBX1/E2A FUSION GENE, INCLUDED Asterisk 176311 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 2; PBX2 HOMEOBOX 12; HOX12 Asterisk 176312 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 3; PBX3 Asterisk 176385 PREGNANCY-ASSOCIATED PLASMA PROTEIN A; PAPPA IGFBP4 PROTEASE;; DIFFERENTIALLY EXPRESSED IN PLACENTA 1; DIPLA1 Asterisk 176390 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1; PSG1 PSBG1;; PSGGA;; B1G1 Asterisk 176391 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 2; PSG2 PSBG2;; PSGGB Asterisk 176392 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 3; PSG3 Asterisk 176393 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 4; PSG4 Asterisk 176394 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 5; PSG5 Asterisk 176395 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 6; PSG6 Asterisk 176396 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 7; PSG7 Asterisk 176397 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 8; PSG8 Asterisk 176398 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 9; PSG9 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 11, FORMERLY; PSG11, FORMERLY Asterisk 176399 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 10; PSG10 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 12, FORMERLY; PSG12, FORMERLY Number Sign 176400 PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1 Asterisk 176401 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 11; PSG11 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 13, FORMERLY; PSG13, FORMERLY Number Sign 176410 PRECOCIOUS PUBERTY, MALE-LIMITED SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT;; TESTOTOXICOSIS, FAMILIAL LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY, INCLUDED Asterisk 176420 PREGNANCY ZONE PROTEIN; PZP COMPLEMENT COMPONENT 3- AND PREGNANCY ZONE PROTEIN-LIKE ALPHA-2-MACROGLOBULIN DOMAIN-CONTAINING PROTEIN 6; CPAMD6;; C3- AND PZP-LIKE ALPHA-2-MACROGLOBULIN DOMAIN-CONTAINING PROTEIN 6 Number Sign 176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS TOTAL PREMATURE CHROMATID SEPARATION TRAIT Caret 176440 MOVED TO 311360 Number Sign 176450 CURRARINO SYNDROME CURRARINO TRIAD SACRAL AGENESIS SYNDROME, INCLUDED;; SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION, INCLUDED;; SCRA1, INCLUDED Number Sign 176500 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 DEMENTIA, FAMILIAL BRITISH; FBD;; PRESENILE DEMENTIA WITH SPASTIC ATAXIA;; CEREBRAL AMYLOID ANGIOPATHY, BRITISH TYPE Asterisk 176590 PROFILIN 2; PFN2 NULL 176600 PRESENILE DEMENTIA, KRAEPELIN TYPE Asterisk 176610 PROFILIN 1; PFN1 NULL 176620 PRIAPISM, FAMILIAL IDIOPATHIC NULL 176630 PRIMARY RELEASE DISORDER OF PLATELETS Asterisk 176635 PRIMASE POLYPEPTIDE 1; PRIM1 PRIMASE, p49 SUBUNIT;; PRIMASE, p48 SUBUNIT Asterisk 176636 PRIMASE POLYPEPTIDE 2A; PRIM2A PRIM2;; PRIMASE, p58 SUBUNIT Asterisk 176640 PRION PROTEIN; PRNP PRP;; PRION-RELATED PROTEIN; PRIP Number Sign 176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS PROGERIA PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED Caret 176680 MOVED TO 142880 Percent 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI MULVIHILL-SMITH SYNDROME Percent 176700 PROGNATHISM, MANDIBULAR 'HABSBURG JAW';; 'HAPSBURG JAW' Asterisk 176705 PROHIBITIN; PHB PHB1 Asterisk 176710 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 1; P4HA1 PROLYL 4-HYDROXYLASE, ALPHA-1 SUBUNIT;; PROLYL 4-HYDROXYLASE, ALPHA SUBUNIT; P4HA Asterisk 176720 PROLACTIN-INDUCIBLE PROTEIN; PIP GROSS CYSTIC DISEASE FLUID PROTEIN;; GCDFP-15 Asterisk 176730 INSULIN; INS PROINSULIN INS-IGF2 SPLICED READ-THROUGH TRANSCRIPTS, INCLUDED; INSIGF, INCLUDED Asterisk 176740 PROLIFERATING CELL NUCLEAR ANTIGEN; PCNA DNA POLYMERASE DELTA AUXILIARY PROTEIN Asterisk 176741 MARKER OF PROLIFERATION KI67; MKI67 PROLIFERATION-RELATED Ki-67 ANTIGEN; KI67 ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY Ki-67; KIA;; KI67;; MIB1 ANTIGEN; MIB1 Asterisk 176760 PROLACTIN; PRL Asterisk 176761 PROLACTIN RECEPTOR; PRLR Asterisk 176763 PEROXIREDOXIN 1; PRDX1 PRXI;; PROLIFERATION-ASSOCIATED GENE A; PAGA;; NATURAL KILLER-ENHANCING FACTOR A; NKEFA NULL 176770 PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA Percent 176780 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO PROLAPSE OF VAGINA AND RECTUM;; RECTAL PROLAPSE;; VAGINAL PROLAPSE PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 1, INCLUDED; PVOP1, INCLUDED Asterisk 176785 PROLYLCARBOXYPEPTIDASE; PRCP PCP;; ANGIOTENSINASE C Asterisk 176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB PROLYL 4-HYDROXYLASE, BETA SUBUNIT;; PHDB; PROHB; PO4HB;; DISULFIDE ISOMERASE; DSI;; PROTEIN DISULFIDE ISOMERASE/OXIDOREDUCTASE; PDI;; PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 1; PDIA1;; THYROID HORMONE-BINDING PROTEIN p55, CELLULAR;; GLUTATHIONE-INSULIN TRANSHYDROGENASE; GIT Asterisk 176793 PRO-MELANIN-CONCENTRATING HORMONE-LIKE 1, PSEUDOGENE; PMCHL1 Asterisk 176794 PRO-MELANIN-CONCENTRATING HORMONE-LIKE 2, PSEUDOGENE; PMCHL2 Asterisk 176795 PRO-MELANIN-CONCENTRATING HORMONE; PMCH MELANIN-CONCENTRATING HORMONE; MCH Asterisk 176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16 ZINC FINGER PROTEIN 145; ZNF145;; PROMYELOCYTIC LEUKEMIA ZINC FINGER; PLZF PLZF/RARA FUSION GENE, INCLUDED NULL 176800 PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF Asterisk 176801 PROSAPOSIN; PSAP SPHINGOLIPID ACTIVATOR PROTEIN 1, FORMERLY; SAP1, FORMERLY;; SPHINGOLIPID ACTIVATOR PROTEIN 2, FORMERLY; SAP2, FORMERLY SAPOSIN A, INCLUDED; SAPA, INCLUDED;; SAPOSIN B, INCLUDED; SAPB, INCLUDED;; SAPOSIN C, INCLUDED; SAPC, INCLUDED;; SAPOSIN D, INCLUDED; SAPD, INCLUDED Asterisk 176802 PROSTAGLANDIN E RECEPTOR 1, EP1 SUBTYPE; PTGER1 Asterisk 176803 PROSTAGLANDIN D2 SYNTHASE, BRAIN; PTGDS PGD2 SYNTHASE; PGDS2; PDS;; BETA-TRACE;; LIPOCALIN-TYPE PROSTAGLANDIN D SYNTHASE; LPGDS;; PROSTAGLANDIN D SYNTHASE, LIPOCALIN-TYPE Asterisk 176804 PROSTAGLANDIN E RECEPTOR 2, EP2 SUBTYPE; PTGER2 Asterisk 176805 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1; PTGS1 CYCLOOXYGENASE 1; COX1;; PROSTAGLANDIN G/H SYNTHASE 1; PGHS1 CYCLOOXYGENASE 3, INCLUDED; COX3, INCLUDED;; PARTIAL COX1 PROTEINS, INCLUDED; PCOX1, INCLUDED Asterisk 176806 PROSTAGLANDIN E RECEPTOR 3, EP3 SUBTYPE; PTGER3 Number Sign 176807 PROSTATE CANCER Asterisk 176820 KALLIKREIN-RELATED PEPTIDASE 3; KLK3 KALLIKREIN 3;; ANTIGEN, PROSTATE-SPECIFIC; APS;; PROSTATE-SPECIFIC ANTIGEN; PSA Asterisk 176830 PROOPIOMELANOCORTIN; POMC POC;; PRO-ACTH-ENDORPHIN MELANOTROPIN, INCLUDED;; MELANOCYTE-STIMULATING HORMONE, INCLUDED;; LIPOTROPIN, INCLUDED Asterisk 176842 PROTEASOME SUBUNIT, ALPHA-TYPE, 2; PSMA2 HC3;; PSC2 Asterisk 176843 PROTEASOME SUBUNIT, ALPHA-TYPE, 3; PSMA3 HC8;; PSC3 Asterisk 176844 PROTEASOME SUBUNIT, ALPHA-TYPE, 5; PSMA5 PROTEASOME COMPONENT 5; PSC5;; PROTEASOME SUBUNIT ZETA Asterisk 176845 PROTEASOME COMPONENT 8; PSC8 Asterisk 176846 PROTEASOME SUBUNIT, ALPHA-TYPE, 4; PSMA4 PROTEASOME COMPONENT 9; PSC9;; HC9 Asterisk 176847 PROTEASOME SUBUNIT, BETA-TYPE, 10; PSMB10 PROTEASOME SUBUNIT MECL1;; PROTEASOME SUBUNIT BETA-2I Asterisk 176851 PROTEIN CARBOXYL METHYLTRANSFERASE 1; PCMT1 L-ISOASPARTYL/D-ASPARTYL PROTEIN METHYLTRANSFERASE Number Sign 176860 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3 PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT;; PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED, INCLUDED Asterisk 176870 ALPHA-1 MICROGLOBULIN/BIKUNIN PRECURSOR; AMBP ALPHA-1 MICROGLOBULIN; A1M;; PROTEIN HC; HCP;; COMPLEX-FORMING GLYCOPROTEIN HETEROGENEOUS IN CHARGE INTER-ALPHA-TRYPSIN INHIBITOR, LIGHT CHAIN, INCLUDED; ITIL, INCLUDED; IATIL, INCLUDED;; BIKUNIN, INCLUDED;; URINARY TRYPSIN INHIBITOR, INCLUDED; UTI, INCLUDED Asterisk 176871 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 2; EIF2AK2 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-ACTIVATED; PRKR;; PKR;; p68 KINASE Asterisk 176872 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1; MAP2K1 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 1; PRKMK1;; MKK1; MAPKK1;; MAPK/ERK KINASE 1; MEK1 Asterisk 176873 CYCLIN-DEPENDENT KINASE 11B; CDK11B CELL DIVISION CYCLE 2-LIKE 1; CDC2L1;; PROTEIN KINASE p58; PK58; p58;; CDC-RELATED PROTEIN KINASE p58;; PITSLRE B;; CDK11 Caret 176874 MOVED TO 114085 Asterisk 176875 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP1CA PROTEIN PHOSPHATASE 1, ALPHA SUBUNIT; PPP1A Asterisk 176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11 PROTEIN-TYROSINE PHOSPHATASE 2C; PTP2C;; TYROSINE PHOSPHATASE SHP2; SHP2 Asterisk 176877 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 3; PTPN3 PTPH1 Asterisk 176878 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 4; PTPN4 PROTEIN-TYROSINE PHOSPHATASE, MEGAKARYOCYTE; PTPMEG; PTPMEG1;; MEGAKARYOCYTE PHOSPHATASE Asterisk 176879 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 5; PTPN5 PTPN, STRIATUM-ENRICHED; STEP Asterisk 176880 PROTEIN S; PROS1 PROTEIN S, ALPHA; PSA PROTEIN S PSEUDOGENE, INCLUDED; PROSP, INCLUDED;; PROTEIN S, BETA, INCLUDED; PSB, INCLUDED;; PROS2, INCLUDED Asterisk 176882 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, BETA; PTPRB VASCULAR ENDOTHELIAL PROTEIN-TYROSINE PHOSPHATASE; VEPTP Asterisk 176883 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 6; PTPN6 PROTEIN-TYROSINE PHOSPHATASE 1C; PTP1C;; TYROSINE PHOSPHATASE SHP1; SHP1;; HEMATOPOIETIC CELL PHOSPHATASE; HCPH Asterisk 176884 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ALPHA; PTPRA PTP-ALPHA; PTPA;; RPTPase-ALPHA;; LCA-RELATED PHOSPHATASE; LRP Asterisk 176885 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 1; PTPN1 PROTEIN PHOSPHOTYROSYLPHOSPHATASE 1B; PTP1B;; PROTEIN-TYROSINE PHOSPHATASE, PLACENTAL Asterisk 176886 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, GAMMA; PTPRG PROTEIN-TYROSINE PHOSPHATASE GAMMA; PTPG Asterisk 176887 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 2; PTPN2 PROTEIN-TYROSINE PHOSPHATASE, T-CELL; PTPT Asterisk 176888 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, MU; PTPRM PROTEIN-TYROSINE PHOSPHATASE RECEPTOR-LIKE 1; PTPRL1 Asterisk 176889 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 7; PTPN7 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, STRESS-INDUCED; PTPNI Asterisk 176891 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-1; PTPRZ1 PTPRZ;; PTP-ZETA; PTPZ;; RPTP-BETA; RPTPB Asterisk 176892 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, BETA; PRKACB PROTEIN KINASE A, C-BETA SUBUNIT Asterisk 176893 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, GAMMA; PRKACG PROTEIN KINASE A, C-GAMMA SUBUNIT Asterisk 176894 PROTEIN KINASE, cGMP-DEPENDENT, REGULATORY, TYPE I; PRKG1 cGMP-DEPENDENT PROTEIN KINASE, TYPE I, BETA; cGKI-BETA;; PRKGR1B cGMP-DEPENDENT PROTEIN KINASE, TYPE I, ALPHA, INCLUDED;; cGKI-ALPHA, INCLUDED Asterisk 176895 PROTEIN Z; PROZ PZ;; VITAMIN K-DEPENDENT PLASMA GLYCOPROTEIN NULL 176900 PROTEOLYTIC CAPACITY OF PLASMA Asterisk 176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A PROTEIN KINASE A, RII-ALPHA SUBUNIT Asterisk 176911 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, BETA; PRKAR1B PROTEIN KINASE A, RI-BETA SUBUNIT;; PRKAR1 Asterisk 176912 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, BETA; PRKAR2B PROTEIN KINASE A, RII-BETA SUBUNIT;; PRKAR2 Asterisk 176914 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP1CC PROTEIN PHOSPHATASE 1, GAMMA SUBUNIT; PPP1G Asterisk 176915 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, ALPHA ISOFORM; PP2CA Asterisk 176916 PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, BETA ISOFORM; PPP2CB PROTEIN PHOSPHATASE 2A, CATALYTIC SUBUNIT, BETA ISOFORM;; PP2CB Number Sign 176920 PROTEUS SYNDROME GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY ELATTOPROTEUS SYNDROME, INCLUDED Asterisk 176930 COAGULATION FACTOR II; F2 THROMBIN;; PROTHROMBIN;; FACTOR II Asterisk 176940 S100 CALCIUM-BINDING PROTEIN A1; S100A1 S100-ALPHA; S100A Asterisk 176941 TYROSINE KINASE 2; TYK2 Asterisk 176942 FPS/FES-RELATED TYROSINE KINASE; FER PROTEIN-TYROSINE KINASE 3; TYK3 Asterisk 176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2 FGF RECEPTOR;; PROTEIN TYROSINE KINASE, RECEPTOR-LIKE, 14; TK14 KERATINOCYTE GROWTH FACTOR RECEPTOR, INCLUDED; KGFR, INCLUDED;; BEK, MOUSE, HOMOLOG OF, INCLUDED;; FIBROBLAST GROWTH FACTOR RECEPTOR BEK, INCLUDED Caret 176944 MOVED TO 134935 Asterisk 176945 EPHRIN RECEPTOR EphA8; EPHA8 EPH- AND ELK-RELATED KINASE; EEK;; PROTEIN TYROSINE KINASE EEK;; HEK3 Asterisk 176946 EPHRIN RECEPTOR EphA2; EPHA2 EPITHELIAL CELL RECEPTOR PROTEIN-TYROSINE KINASE; ECK Asterisk 176947 ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70 SYK-RELATED TYROSINE KINASE; SRK;; PROTEIN TYROSINE KINASE ZAP70;; ZETA-ASSOCIATED PROTEIN, 70-KD Asterisk 176948 MITOGEN-ACTIVATED PROTEIN KINASE 1; MAPK1 PROTEIN KINASE, MITOGEN-ACTIVATED, 1; PRKM1;; PROTEIN KINASE, MITOGEN-ACTIVATED, 2; PRKM2;; EXTRACELLULAR SIGNAL-REGULATED KINASE 2; ERK2;; PROTEIN TYROSINE KINASE ERK2;; p42MAPK Asterisk 176949 MITOGEN-ACTIVATED PROTEIN KINASE 4; MAPK4 PROTEIN KINASE, MITOGEN-ACTIVATED, 4; PRKM4;; PROTEIN-TYROSINE KINASE ERK3-RELATED;; ERK3-RELATED;; p63MAPK Caret 176950 MOVED TO 262890 Asterisk 176960 PROTEIN KINASE C, ALPHA; PRKCA PKCA Asterisk 176970 PROTEIN KINASE C, BETA; PRKCB PRKCB1;; PKCB PRKCB2, INCLUDED Asterisk 176975 PROTEIN KINASE C, EPSILON; PRKCE PKCE Asterisk 176977 PROTEIN KINASE C, DELTA; PRKCD PKCD Asterisk 176980 PROTEIN KINASE C, GAMMA; PRKCG PKCC; PKCG Asterisk 176981 RECEPTOR FOR ACTIVATED PROTEIN KINASE C, 1; RACK1 PROTEIN KINASE C, RECEPTOR FOR ACTIVATED, 1;; GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-2-LIKE 1; GNB2L1 Asterisk 176982 PROTEIN KINASE C, ZETA FORM; PRKCZ PKC2;; PKC-ZETA PKM-ZETA, INCLUDED Asterisk 176990 S100 CALCIUM-BINDING PROTEIN, BETA; S100B Asterisk 176991 S100 CALCIUM-BINDING PROTEIN A5; S100A5 S100D Asterisk 176992 S100 CALCIUM-BINDING PROTEIN A3; S100A3 S100E Asterisk 176993 S100 CALCIUM-BINDING PROTEIN A2; S100A2 S100L Number Sign 177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 PROTOPORPHYRIA, ERYTHROPOIETIC; EPP;; ERYTHROHEPATIC PROTOPORPHYRIA;; HEME SYNTHETASE DEFICIENCY;; FERROCHELATASE DEFICIENCY Asterisk 177010 SERPIN PEPTIDASE INHIBITOR, CLADE E (NEXIN, PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1), MEMBER 2; SERPINE2 PROTEASE INHIBITOR 7; PI7;; GLIAL-DERIVED NEURITE PROMOTING FACTOR;; PROTEASE NEXIN I; PN1;; GLIAL-DERIVED NEXIN 1 Asterisk 177015 PROTEIN SERINE KINASE H1; PSKH1 Asterisk 177020 PROTEINASE 3; PRTN3 PR3;; MYELOBLASTIN; MBT;; P29;; AZUROPHIL GRANULE PROTEIN 7; AGP7;; SERINE PROTEINASE, NEUTROPHIL WEGENER AUTOANTIGEN Caret 177030 MOVED TO 176880 Asterisk 177040 SERGLYCIN; SRGN PROTEOGLYCAN 1; PRG1; PRG;; PLATELET PROTEOGLYCAN PROTEIN CORE; PPG;; PROTEOGLYCAN PROTEIN CORE FOR MAST CELL SECRETORY GRANULE Asterisk 177045 PROTEASOME SUBUNIT, BETA-TYPE, 9; PSMB9 LARGE MULTIFUNCTIONAL PROTEASE 2; LMP2;; PROTEASOME-RELATED GENE 2;; RING12;; PROTEASOME SUBUNIT BETA-1I Asterisk 177046 PROTEASOME SUBUNIT, BETA-TYPE, 8; PSMB8 LARGE MULTIFUNCTIONAL PROTEASE 7; LMP7;; PROTEASOME-RELATED GENE 7;; RING10;; PROTEASOME SUBUNIT BETA-5I Percent 177050 PROTRUSIO ACETABULI Asterisk 177060 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; PRKCSH G19P1;; GLUCOSIDASE II, BETA SUBUNIT HEPATOCYSTIN, INCLUDED Asterisk 177061 MYRISTOYLATED ALANINE-RICH PROTEIN KINASE C SUBSTRATE; MARCKS MAC; MACS;; PROTEIN KINASE C SUBSTRATE, 80-KD, LIGHT CHAIN; PRKCSL Asterisk 177070 PROTEIN 4.2, ERYTHROCYTIC; EPB42 Asterisk 177075 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG; MAF PROTOONCOGENE MAF NULL 177100 PRURITUS, HEREDITARY LOCALIZED Caret 177150 MOVED TO 177170 Number Sign 177170 PSEUDOACHONDROPLASIA; PSACH PSEUDOACHONDROPLASTIC DYSPLASIA;; SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC Number Sign 177200 LIDDLE SYNDROME 1; LIDLS1 LIDDLE SYNDROME; LIDLS;; PSEUDOALDOSTERONISM;; PSEUDOHYPERALDOSTERONISM NULL 177300 PSEUDOARTHROGRYPOSIS HEREDITARY CONGENITAL RIGIDITY OF ELBOWS AND KNEES;; ANKYLOSIS AT ELBOW AND KNEE NULL 177350 PSEUDOATROPHODERMA COLLI Asterisk 177400 BUTYRYLCHOLINESTERASE; BCHE PSEUDOCHOLINESTERASE E1; CHE1;; ACYLCHOLINE ACYLHYDROLASE Caret 177500 MOVED TO 177400 NULL 177600 PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF Number Sign 177650 EXFOLIATION SYNDROME; XFS EXFOLIATION GLAUCOMA; XFG;; PSEUDOEXFOLIATION GLAUCOMA; PEXG;; PSEUDOEXFOLIATION OF THE LENS;; PSEUDOEXFOLIATION SYNDROME; PEXS Number Sign 177700 GLAUCOMA 1, OPEN ANGLE, P; GLC1P Caret 177720 MOVED TO 194380 Number Sign 177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT; PHA1A PHA I, AUTOSOMAL DOMINANT Percent 177750 PSEUDOMONILETHRIX NULL 177800 PSEUDOPAPILLEDEMA Number Sign 177820 PSEUDO-VON WILLEBRAND DISEASE; VWDP BLEEDING DISORDER, PLATELET-TYPE, 3; BDPLT3;; VON WILLEBRAND DISEASE, PLATELET-TYPE Number Sign 177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED Caret 177860 REMOVED FROM DATABASE Number Sign 177900 PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1 Number Sign 177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES HASPESLAGH SYNDROME NULL 177990 PTERYGIUM COLLI, ISOLATED NULL 178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA Number Sign 178110 CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1A; CPSKF1A MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT;; PTERYGIUM SYNDROME, MULTIPLE; AUTOSOMAL DOMINANT;; ARTHROGRYPOSIS, DISTAL, TYPE 8, FORMERLY; DA8, FORMERLY Percent 178200 PTERYGIUM, ANTECUBITAL Percent 178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1 NULL 178330 PTOSIS, STRABISMUS, AND ECTOPIC PUPILS Percent 178350 PUBIC BONE DYSPLASIA NULL 178370 PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT NULL 178400 PULMONARY EDEMA OF MOUNTAINEERS, SUSCEPTIBILITY TO HIGH ALTITUDE PULMONARY HYPERTENSION; HAPH Number Sign 178500 PULMONARY FIBROSIS, IDIOPATHIC; IPF IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL;; FIBROSING ALVEOLITIS, CRYPTOGENIC;; FIBROCYSTIC PULMONARY DYSPLASIA;; INTERSTITIAL PNEUMONITIS, USUAL; UIP HAMMAN-RICH DISEASE, INCLUDED NULL 178550 PULMONARY HEMOSIDEROSIS Number Sign 178600 PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 PHT;; PULMONARY ARTERIAL HYPERTENSION; PAH PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED;; PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED, INCLUDED;; PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA, INCLUDED;; PPH1 WITH HHT, INCLUDED NULL 178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL Asterisk 178620 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN C; SFTPC SURFACTANT-ASSOCIATED PROTEIN, PULMONARY, 2; SFTP2;; PULMONARY SURFACTANT APOPROTEIN PSP-C; SPC;; PSP-C;; SURFACTANT PROTEOLIPID SPL-pVal;; PULMONARY SURFACTANT PROTEIN SP5 Asterisk 178630 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A1; SFTPA1 PULMONARY SURFACTANT APOPROTEIN PSP-A; PSAP;; SURFACTANT-ASSOCIATED PROTEIN, PULMONARY 1; SFTP1;; PULMONARY SURFACTANT-ASSOCIATED PROTEIN, 35-KD; PSPA; SPA; SPA1;; COLLECTIN 4; COLEC4 Asterisk 178635 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D; SFTPD PULMONARY SURFACTANT APOPROTEIN PSP-D;; PSP-D SURFACTANT PROTEIN D; SP-D;; SURFACTANT-ASSOCIATED PROTEIN, PULMONARY 4; SFTP4;; COLLECTIN 7; COLEC7 Asterisk 178640 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN B; SFTPB SURFACTANT-ASSOCIATED PROTEIN, PULMONARY, 3; SFTP3;; PULMONARY SURFACTANT APOPROTEIN PSP-B; SPB;; PSP-B;; PULMONARY SURFACTANT-ASSOCIATED PROTEIN, 18-KD Asterisk 178642 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN A2; SFTPA2 PULMONARY SURFACTANT PROTEIN AII; SPAII; SPA2;; COLLECTIN 5; COLEC5 NULL 178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES CIUFFO SYNDROME NULL 178651 PULMONIC STENOSIS AND DEAFNESS NULL 178800 PUPIL, EGG-SHAPED NULL 178900 PUPILLARY MEMBRANE, PERSISTENCE OF Asterisk 178990 MATRIX METALLOPROTEINASE 7; MMP7 MATRILYSIN, UTERINE;; PUTATIVE METALLOPROTEINASE I; PUMP1 NULL 178995 PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP POLYMORPHIC ERUPTION OF PREGNANCY NULL 179000 PURPURA SIMPLEX Percent 179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1; IHPS1 PYLORIC STENOSIS, INFANTILE;; PYLORIC STENOSIS, INFANTILE HYPERTROPHIC; IHPS Asterisk 179020 PYRIDOXAL KINASE; PDXK PYRIDOXINE KINASE; PNK;; PKH;; VITAMIN B6 KINASE Asterisk 179030 PYROPHOSPHATASE, INORGANIC, 1; PPA1 PP Asterisk 179035 PYRROLINE-5-CARBOXYLATE REDUCTASE 1; PYCR1 PRO3, YEAST, HUMAN COMPLEMENT OF Caret 179040 MOVED TO 179050 Asterisk 179050 PYRUVATE KINASE, MUSCLE; PKM PYRUVATE KINASE 3; PK3;; OPA-INTERACTING PROTEIN 3; OIP3;; THYROID HORMONE-BINDING PROTEIN, CYTOSOLIC; THBP1 PYRUVATE KINASE, MUSCLE, 1, INCLUDED; PKM1, INCLUDED;; PYRUVATE KINASE, MUSCLE, 2, INCLUDED; PKM2, INCLUDED Asterisk 179060 PYRUVATE DEHYDROGENASE, BETA POLYPEPTIDE; PDHB PYRUVATE DEHYDROGENASE COMPLEX, E1 BETA POLYPEPTIDE; PHE1B Asterisk 179061 PYRUVATE DEHYDROGENASE, ALPHA-2; PDHA2 PYRUVATE DEHYDROGENASE, E1-ALPHA POLYPEPTIDE, TESTIS-SPECIFIC Asterisk 179080 RAB GERANYLGERANYL TRANSFERASE, BETA SUBUNIT; RABGGTB RAB GERANYLGERANYLTRANSFERASE, BETA COMPONENT;; GG TRANSFERASE, COMPONENT B; GGTB Caret 179090 MOVED TO 164730 Asterisk 179095 UBIQUITIN-CONJUGATING ENZYME E2B; UBE2B RAD6, YEAST, HOMOLOG OF, TYPE B; RAD6B;; HHR6B Percent 179200 RADIAL HEADS, POSTERIOR DISLOCATION OF NULL 179250 RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA NULL 179270 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA NULL 179280 RADIAL-RENAL SYNDROME NULL 179300 RADIOULNAR SYNOSTOSIS NULL 179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE Asterisk 179410 RADIXIN; RDX NULL 179450 RAGWEED SENSITIVITY Asterisk 179490 RAS-ASSOCIATED PROTEIN RAB3A; RAB3A NULL 179500 RAINDROP HYPOPIGMENTATION Asterisk 179502 RAP1, GTPase-GDP DISSOCIATION STIMULATOR 1; RAP1GDS1 GTPase-GDP DISSOCIATION STIMULATOR, RAP1, 1;; GDP-DISSOCIATION STIMULATOR 1; GDS1;; SMGGDS RAP1GDS1/NUP98 FUSION GENE, INCLUDED Asterisk 179503 RAS-RELATED ASSOCIATED WITH DIABETES; RRAD RAS GENE ASSOCIATED WITH DIABETES; RAD RAD POLYMORPHISM 1, INCLUDED; RAD1, INCLUDED Asterisk 179505 RAS HOMOLOG GENE FAMILY, MEMBER G; RHOG RAS HOMOLOG GENE G;; ARHG Asterisk 179508 RAS-ASSOCIATED PROTEIN RAB1; RAB1 RAB1A Asterisk 179509 RAS-ASSOCIATED PROTEIN RAB2; RAB2 RAB2A Asterisk 179510 RAS-ASSOCIATED PROTEIN RAB3B; RAB3B Asterisk 179511 RAS-ASSOCIATED PROTEIN RAB4A; RAB4A RAB4 Asterisk 179512 RAS-ASSOCIATED PROTEIN RAB5A; RAB5A RAB5 Asterisk 179513 RAS-ASSOCIATED PROTEIN RAB6A; RAB6A RAS-ASSOCIATED PROTEIN RAB6; RAB6 Asterisk 179514 RAS-ASSOCIATED PROTEIN RAB5B; RAB5B Asterisk 179520 RAS-RELATED PROTEIN 1A; RAP1A KREV1 Asterisk 179530 RAS-RELATED PROTEIN RAP1B; RAP1B Asterisk 179540 RAS-RELATED PROTEIN 2A; RAP2A RAP2;; KREV Asterisk 179541 RAS-RELATED PROTEIN 2B; RAP2B Asterisk 179550 V-RAL SIMIAN LEUKEMIA VIRAL ONCOGENE HOMOLOG A; RALA RAS-LIKE PROTEIN; RAL Asterisk 179551 V-RAL SIMIAN LEUKEMIA VIRAL ONCOGENE HOMOLOG B; RALB RAS-LIKE PROTEIN B Asterisk 179555 RAS SUPPRESSOR PROTEIN 1; RSU1 Asterisk 179590 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F; PTPRF RECEPTOR-LINKED PROTEIN-TYROSINE PHOSPHATASE LAR;; LEUKOCYTE ANTIGEN-RELATED TYROSINE PHOSPHATASE; LAR Percent 179600 RAYNAUD DISEASE COLD FINGERS, HEREDITARY Asterisk 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2 RDS, MOUSE, HOMOLOG OF; RDS;; PERIPHERIN, PHOTORECEPTOR TYPE;; RETINAL DEGENERATION, SLOW, MOUSE, HOMOLOG OF Asterisk 179610 EPHRIN RECEPTOR EphA1; EPHA1 ONCOGENE EPH;; RECEPTOR TYROSINE KINASE EPH;; EPH TYROSINE KINASE/ERYTHROPOIETIN-PRODUCING HEPATOMA AMPLIFIED SEQUENCE; EPHT;; EPH TYROSINE KINASE 1; EPHT1 Asterisk 179611 EPHRIN RECEPTOR EphA3; EPHA3 HUMAN EMBRYO KINASE; HEK;; RECEPTOR TYROSINE KINASE HEK;; EPH-LIKE TYROSINE KINASE 1; ETK1;; HEK4;; TYRO4 Number Sign 179613 RECOMBINANT CHROMOSOME 8 SYNDROME REC8 SYNDROME;; CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION;; SAN LUIS VALLEY SYNDROME Asterisk 179615 RECOMBINATION-ACTIVATING GENE 1; RAG1 Asterisk 179616 RECOMBINATION-ACTIVATING GENE 2; RAG2 Asterisk 179617 RAD51, S. CEREVISIAE, HOMOLOG OF; RAD51 RAD51, S. CEREVISIAE, HOMOLOG OF, A; RAD51A;; RECOMBINATION PROTEIN A; RECA;; RECA, E. COLI, HOMOLOG OF Asterisk 179618 RECOVERIN; RCV1 CANCER-ASSOCIATED RETINOPATHY PROTEIN;; CAR PROTEIN Number Sign 179620 RAPH BLOOD GROUP SYSTEM MER2 BLOOD CELL ANTIGEN EXPRESSION; MER2 Percent 179650 RED CELL PERMEABILITY DEFECT ELLIPTOCYTOSIS WITH TRANSVERSE SLITLIKE CHANGES Percent 179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS HIGH RED CELL PHOSPHATIDYLCHOLINE HEMOLYTIC ANEMIA; HPCHA;; PHOSPHATIDYLCHOLINE RED CELL MEMBRANE DISORDER;; LEAKY RED CELL SYNDROME Asterisk 179710 REGULATOR OF CHROMOSOME CONDENSATION 1; RCC1 CHROMOSOME CONDENSATION 1; CHC1 Caret 179715 REMOVED FROM DATABASE Asterisk 179730 RELAXIN 1; RLN1 RELAXIN H1; RLXH1 Asterisk 179740 RELAXIN 2; RLN2 RELAXIN H2; RLXH2;; RELAXIN, OVARIAN, OF PREGNANCY Asterisk 179755 PAPILLARY RENAL CELL CARCINOMA TRANSLOCATION-ASSOCIATED GENE; PRCC PRCC/TFE3 FUSION GENE, INCLUDED Caret 179760 MOVED TO 144700 Caret 179770 MOVED TO 144700 Asterisk 179780 DIPEPTIDASE 1; DPEP1 DIPEPTIDASE 1, RENAL;; RENAL DIPEPTIDASE; RDP;; DEHYDROPEPTIDASE I;; MICROSOMAL DIPEPTIDASE; MDP;; MEMBRANE-BOUND DIPEPTIDASE 1; MBD1 Number Sign 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT RTA, DISTAL TYPE, AUTOSOMAL DOMINANT;; RENAL TUBULAR ACIDOSIS I;; RTA, CLASSIC TYPE;; RTA, GRADIENT TYPE Asterisk 179820 RENIN; REN NULL 179830 RENAL TUBULAR ACIDOSIS, PROXIMAL RENAL TUBULAR ACIDOSIS II;; RTA, PROXIMAL TYPE;; RTA, RATE TYPE Asterisk 179835 REPLICATION PROTEIN A1, 70-KD; RPA1 RPA70;; REPA1 Asterisk 179836 REPLICATION PROTEIN A2, 32-KD; RPA2 RPA32;; REPA2 Asterisk 179837 REPLICATION PROTEIN A3, 14-KD; RPA3 RPA14;; REPA3 Asterisk 179838 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 1; CLIP1 RESTIN; RSN;; REED-STERNBERG MICROTUBULE-ASSOCIATED PROTEIN;; CYTOPLASMIC LINKER 1; CYLN1;; CYTOPLASMIC LINKER PROTEIN 170; CLIP170 NULL 179840 RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM Number Sign 179850 DOWLING-DEGOS DISEASE 1; DDD1 DDD;; RETICULAR PIGMENT ANOMALY OF FLEXURES Percent 179900 RETINAL APLASIA AMAUROSIS CONGENITA Number Sign 180000 RETINAL ARTERIES, TORTUOSITY OF; RATOR RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY Percent 180020 RETINAL CONE DYSTROPHY 1; RCD1 RETINAL CONE DEGENERATION;; CONE DYSTROPHY, AUTOSOMAL DOMINANT Asterisk 180040 RETINAL DEGENERATION 3, MOUSE, HOMOLOG OF; RD3 CHROMOSOME 1 OPEN READING FRAME 36; C1ORF36 Percent 180050 RETINAL DETACHMENT Caret 180060 MOVED TO 152950 Asterisk 180069 RETINOID ISOMEROHYDROLASE RPE65; RPE65 Caret 180070 MOVED TO 221900 Asterisk 180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, ALPHA SUBUNIT; PDEA Asterisk 180072 PHOSPHODIESTERASE 6B, cGMP-SPECIFIC, ROD, BETA; PDE6B RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, BETA SUBUNIT; PDEB;; RD, MOUSE, HOMOLOG OF;; RD1, MOUSE, HOMOLOG OF Asterisk 180073 PHOSPHODIESTERASE 6G, cGMP-SPECIFIC, ROD, GAMMA; PDE6G RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, GAMMA SUBUNIT; PDEG NULL 180080 RETINAL VENOUS BEADING Asterisk 180090 RETINALDEHYDE-BINDING PROTEIN 1; RLBP1 CELLULAR RETINALDEHYDE-BINDING PROTEIN; CRALBP Number Sign 180100 RETINITIS PIGMENTOSA 1; RP1 Caret 180102 MOVED TO 180380 Caret 180103 MOVED TO 500004 Number Sign 180104 RETINITIS PIGMENTOSA 9; RP9 Number Sign 180105 RETINITIS PIGMENTOSA 10; RP10 Asterisk 180190 RETINOIC ACID RECEPTOR, GAMMA; RARG RARG/NUP98 FUSION GENE, INCLUDED Number Sign 180200 RETINOBLASTOMA; RB1 RB Asterisk 180201 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 4A; ARID4A ARID-CONTAINING PROTEIN 4A;; RETINOBLASTOMA-BINDING PROTEIN 1; RBP1; RBBP1 Asterisk 180202 LYSINE-SPECIFIC DEMETHYLASE 5A; KDM5A JUMONJI, AT-RICH INTERACTIVE DOMAIN 1A; JARID1A;; RETINOBLASTOMA-BINDING PROTEIN 2; RBP2; RBBP2 Asterisk 180203 RETINOBLASTOMA-LIKE 2; RBL2 RETINOBLASTOMA-RELATED GENE RB2; RB2;; p130 NULL 180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT Asterisk 180220 RETINOIC ACID RECEPTOR, BETA; RARB RAR, BETA FORM;; HEPATITIS B VIRUS ACTIVATED PROTEIN, HAP;; HBV-ACTIVATED PROTEIN;; RAR-EPSILON Asterisk 180230 RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE I; CRABP1 CRABP;; RETINOIC ACID-BINDING PROTEIN 5; RBP5 Asterisk 180231 RETINOIC ACID-BINDING PROTEIN, CELLULAR, TYPE II; CRABP2 Asterisk 180240 RETINOIC ACID RECEPTOR, ALPHA; RARA RAR, ALPHA FORM ACUTE PROMYELOCYTIC LEUKEMIA BREAKPOINT CLUSTER REGION, INCLUDED;; RARA/PML FUSION GENE, INCLUDED;; RARA/PLZF FUSION GENE, INCLUDED;; RARA/NUMA1 FUSION GENE, INCLUDED;; RARA/PRKAR1A FUSION GENE, INCLUDED Asterisk 180245 RETINOID X RECEPTOR, ALPHA; RXRA Asterisk 180246 RETINOID X RECEPTOR, BETA; RXRB Asterisk 180247 RETINOID X RECEPTOR, GAMMA; RXRG RXRC Asterisk 180250 RETINOL-BINDING PROTEIN 4; RBP4 RETINOL-BINDING PROTEIN, PLASMA Asterisk 180260 RETINOL-BINDING PROTEIN 1; RBP1 RETINOL-BINDING PROTEIN, CELLULAR; RBPC;; CELLULAR RETINOL-BINDING PROTEIN; CRBP;; CELLULAR RETINOL-BINDING PROTEIN 1; CRBP1;; CRBPI NULL 180270 RETINOSCHISIS, AUTOSOMAL DOMINANT Asterisk 180280 RETINOL-BINDING PROTEIN 2; RBP2 RETINOL-BINDING PROTEIN, CELLULAR, 2; RBPC2;; CELLULAR RETINOL-BINDING PROTEIN 2; CRBP2;; CRBPII Asterisk 180290 RETINOL-BINDING PROTEIN 3; RBP3 RETINOL-BINDING PROTEIN, INTERSTITIAL; RBPI;; INTERSTITIAL RETINOL-BINDING PROTEIN; IRBP Number Sign 180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 Asterisk 180297 RHESUS BLOOD GROUP-ASSOCIATED GLYCOPROTEIN; RHAG RHESUS ASSOCIATED POLYPEPTIDE, 50-KD; RH50A;; RH2 Number Sign 180300 RHEUMATOID ARTHRITIS; RA RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO Caret 180330 REMOVED FROM DATABASE NULL 180350 RHEUMATOID NODULOSIS NULL 180360 RHINY Asterisk 180370 THIOSULFATE SULFURTRANSFERASE; TST RHODANESE; RDS Asterisk 180380 RHODOPSIN; RHO OPSIN 2; OPN2 Asterisk 180381 G PROTEIN-COUPLED RECEPTOR KINASE 1; GRK1 GPRK1;; RHODOPSIN KINASE; RHOK;; RK Asterisk 180385 LIM DOMAIN ONLY 2; LMO2 RHOMBOTIN 2; RBTN2;; RHOMBOTIN-LIKE 1; RBTNL1; RHOM2;; T-CELL TRANSLOCATION GENE 2; TTG2 Asterisk 180386 LIM DOMAIN ONLY 3; LMO3 RHOMBOTIN-LIKE-2; RBTNL2;; RHOMBOTIN 3; RBTN3; RHOM3 Asterisk 180390 RIBONUCLEOTIDE REDUCTASE, M2 SUBUNIT; RRM2 RIBONUCLEOTIDE REDUCTASE, SMALL SUBUNIT;; RIBONUCLEOTIDE REDUCTASE, R2 SUBUNIT; R2 Asterisk 180410 RIBONUCLEOTIDE REDUCTASE, M1 SUBUNIT; RRM1 RIBONUCLEOTIDE REDUCTASE, LARGE SUBUNIT;; RIBONUCLEOTIDE REDUCTASE, R1 SUBUNIT; R1 Asterisk 180420 RNA, 5S RIBOSOMAL, GENE CLUSTER 1; RN5S1@ 5S rRNA CLUSTER 1 Asterisk 180430 RIBOSE 5-PHOSPHATE ISOMERASE A; RPIA RPI Asterisk 180435 RIBONUCLEASE L; RNASEL RIBONUCLEASE 4; RNS4;; RIBONUCLEASE, 2-5A-DEPENDENT, INTERFERON-INDUCED;; INTERFERON-INDUCED 2-5A-DEPENDENT RNase Asterisk 180440 RIBONUCLEASE, RNase A FAMILY, 1; RNASE1 RIBONUCLEASE, PANCREATIC;; RNS1;; RIB1 Asterisk 180450 RIBOSOMAL RNA 1; RNR1 Asterisk 180451 RIBOSOMAL RNA 2; RNR2 Asterisk 180452 RIBOSOMAL RNA 3; RNR3 Asterisk 180453 RIBOSOMAL RNA 4; RNR4 Asterisk 180454 RIBOSOMAL RNA 5; RNR5 Asterisk 180460 RIBOSOMAL PROTEIN S6; RPS6 Caret 180461 MOVED TO 180472 Caret 180462 MOVED TO 180472 Asterisk 180463 RIBOSOMAL PROTEIN S20A; RPS20A Asterisk 180464 RIBOSOMAL PROTEIN S20B; RPS20B Asterisk 180465 RIBOSOMAL PROTEIN S25; RPS25 Asterisk 180466 RIBOSOMAL PROTEIN L19; RPL19 Asterisk 180467 RIBOSOMAL PROTEIN L30; RPL30 Asterisk 180468 RIBOSOMAL PROTEIN L35A; RPL35A Asterisk 180469 RIBOSOMAL PROTEIN L36A-LIKE; RPL36AL RIBOSOMAL PROTEIN L36A; RPL36A Asterisk 180470 RIBOPHORIN I; RPN1 RBPH1 RBPH1/EVI1 FUSION GENE, INCLUDED Asterisk 180471 RIBOSOMAL PROTEIN S11; RPS11 Asterisk 180472 RIBOSOMAL PROTEIN S17; RPS17 RIBOSOMAL PROTEIN S17a-LIKE 1, INCLUDED; RPS17L1, INCLUDED;; RIBOSOMAL PROTEIN S17a, INCLUDED; RPS17A, INCLUDED;; RIBOSOMAL PROTEIN S17b-LIKE 2, INCLUDED; RPS17L2, INCLUDED;; RIBOSOMAL PROTEIN S17b, INCLUDED; RPS17B, INCLUDED Asterisk 180473 RIBOSOMAL PROTEIN S18; RPS18 Asterisk 180474 RIBOSOMAL PROTEIN L22; RPL22 EPSTEIN-BARR ASSOCIATED PROTEIN; EAP Asterisk 180475 RIBOSOMAL PROTEIN L12; RPL12 Asterisk 180476 RIBOSOMAL PROTEIN S13; RPS13 Asterisk 180477 RIBOSOMAL PROTEIN S21; RPS21 Asterisk 180478 RIBOSOMAL PROTEIN S3a; RPS3A Asterisk 180479 RIBOSOMAL PROTEIN L4; RPL4 Asterisk 180480 RIBULOSE 5-PHOSPHATE 3-EPIMERASE; RPE Asterisk 180490 RIBOPHORIN II; RPN2 Number Sign 180500 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 RIEGER SYNDROME, TYPE 1;; RIEG;; RGS Asterisk 180510 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P0; RPLP0 RIBOSOMAL PHOSPHOPROTEIN, ACIDIC, P0 Asterisk 180520 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P1; RPLP1 RIBOSOMAL PHOSPHOPROTEIN, ACIDIC, P1 Asterisk 180530 RIBOSOMAL PHOSPHOPROTEIN, LARGE, P2; RPLP2 RIBOSOMAL PHOSPHOPROTEIN, ACIDIC, P2 Asterisk 180535 RIBOSOMAL PROTEIN S15; RPS15 RAT INSULINOMA GENE HOMOLOG; RIG Caret 180540 MOVED TO 131410 Number Sign 180550 RING DERMOID OF CORNEA; RDC Percent 180600 RINGED HAIR PILI ANNULATI Asterisk 180610 REARRANGED LMYC FUSION; RLF RLF PROTEIN INVOLVED IN ACTIVATION OF LMYC Asterisk 180620 TRANSFER RNA METHIONINE 2; TRNAM2 tRNA METHIONINE INITIATOR 2; TRNAMI2;; RNA, TRANSFER, METHIONINE INITIATOR, 2; RNTMI2 Asterisk 180621 TRANSFER RNA METHIONINE 1; TRNAM1 TRANSFER RNA METHIONINE INITIATOR 1;; TRMI1 tRNA METHIONINE INITIATOR 1;; RNA, INITIATOR METHIONINE TRANSFER, 1; RNTMI1 Asterisk 180630 DEAD/H BOX 5; DDX5 RNA HELICASE, 68-KD;; HELICASE, RNA, NUCLEAR 1; HLR1;; G17P1;; NUCLEAR ANTIGEN, 68-KD; p68;; RNA-DEPENDENT ATPase Asterisk 180640 TRANSFER RNA GLUTAMIC ACID; TRNAE1 TRNE;; tRNA GLUTAMIC ACID; TRE Asterisk 180645 SMALL NUCLEOLAR RNA, H/ACA BOX, 73A; SNORA73A RNA, U17A SMALL NUCLEOLAR; RNU17A;; snoRNA, U17A;; RNA, SMALL NUCLEOLAR E1; RNE1 Asterisk 180646 SMALL NUCLEOLAR RNA, H/ACA BOX, 62; SNORA62 RNA, U108 SMALL NUCLEOLAR; RNU108;; RNA, E2 SMALL NUCLEOLAR; RNE2;; snoRNA, E2 Asterisk 180647 SMALL NUCLEOLAR RNA, H/ACA BOX, 63; SNORA63 RNA, U107 SMALL NUCLEOLAR; RNU107;; RNA, E3 SMALL NUCLEOLAR; RNE3;; snoRNA, E3 Asterisk 180660 POLYMERASE II, RNA, SUBUNIT A; POLR2A RPB1, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 220-KD SUBUNIT;; RNA POLYMERASE II, LARGE SUBUNIT; RPO2; RPOL2; POLR2 Asterisk 180661 POLYMERASE II, RNA, SUBUNIT B; POLR2B RPB2, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 140-KD SUBUNIT;; RNA POLYMERASE II, SECOND LARGEST SUBUNIT Asterisk 180662 POLYMERASE II, RNA, SUBUNIT I; POLR2I RPB9, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 14.5-KD SUBUNIT Asterisk 180663 POLYMERASE II, RNA, SUBUNIT C; POLR2C RPB3, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 33-KD SUBUNIT Asterisk 180664 POLYMERASE II, RNA, SUBUNIT E; POLR2E RPB5, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 25-KD SUBUNIT Asterisk 180670 RNA POLYMERASE III TRANSCRIPTIONAL UNITS Asterisk 180680 RNA, U1A SMALL NUCLEAR; RNU1A snRNA, U1A;; RNA, U1 SMALL NUCLEAR; RNU1 Asterisk 180690 RNA, U2 SMALL NUCLEAR, 1; RNU2-1 snRNA, U2 RNA, U2 SMALL NUCLEAR, FORMERLY; RNU2, FORMERLY Asterisk 180691 RNA, U5A SMALL NUCLEAR; RNU5A snRNA, U5A;; RNA, U5 SMALL NUCLEAR; RNU5 Asterisk 180692 RNA, U6 SMALL NUCLEAR, 1; RNU6-1 RNA, U6 SMALL NUCLEAR; RNU6;; snRNA, U6A;; RNA, U6A SMALL NUCLEAR, FORMERLY; RNU6A, FORMERLY Number Sign 180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 ROBINOW DWARFISM;; FETAL FACE SYNDROME;; ACRAL DYSOSTOSIS WITH FACIAL AND GENITAL ABNORMALITIES Asterisk 180710 SMALL NUCLEOLAR RNA, C/D BOX, 3A; SNORD3A RNA, U3 SMALL NUCLEOLAR; RNU3;; snoRNA, U3 Caret 180720 MOVED TO 180680 Asterisk 180721 ROD OUTER SEGMENT PROTEIN 1; ROM1 ROSP1 NULL 180730 ROMBO SYNDROME Asterisk 180740 SMALL NUCLEAR RIBONUCLEOPROTEIN, U1 SUBUNIT, 70-KD; SNRNP70 SNRP70;; RNA, U1 SMALL NUCLEAR, ASSOCIATED PROTEIN; U1RNP; U1AP;; RIBONUCLEOPROTEIN U1, SMALL NUCLEAR; RPU1;; RIBONUCLEOPROTEIN U1, SMALL NUCLEAR, 70-KD; U170K;; RNP ANTIGEN Number Sign 180750 ROBINOW-SORAUF SYNDROME CRANIOSYNOSTOSIS-BIFID HALLUX SYNDROME;; ACROCEPHALOSYNDACTYLY, ROBINOW-SORAUF TYPE Number Sign 180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA ROUSSY-LEVY SYNDROME Caret 180840 MOVED TO 601625 Number Sign 180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 RSTS;; RUBINSTEIN SYNDROME;; BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;; BROAD THUMB-HALLUX SYNDROME Caret 180850 MOVED TO 180849 Number Sign 180860 SILVER-RUSSELL SYNDROME; SRS RUSSELL-SILVER SYNDROME; RSS;; SILVER-RUSSELL DWARFISM NULL 180870 RUVALCABA SYNDROME Percent 180900 RUTHERFURD SYNDROME CORNEAL DYSTROPHY WITH GUM HYPERTROPHY;; GINGIVAL HYPERTROPHY WITH CORNEAL DYSTROPHY Asterisk 180901 RYANODINE RECEPTOR 1; RYR1 RYANODINE RECEPTOR, SKELETAL MUSCLE; RYDR;; SKELETAL MUSCLE RYANODINE RECEPTOR; SKRR;; SARCOPLASMIC RETICULUM CALCIUM RELEASE CHANNEL Asterisk 180902 RYANODINE RECEPTOR 2; RYR2 RYANODINE RECEPTOR, CARDIAC Asterisk 180903 RYANODINE RECEPTOR 3; RYR3 RYANODINE RECEPTOR, BRAIN Asterisk 180910 SALIVARY ESTERASE Number Sign 180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG SALIVARY GLANDS, ABSENCE OF, INCLUDED;; PAROTID APLASIA OR HYPOPLASIA, INCLUDED Caret 180930 REMOVED FROM DATABASE Caret 180940 REMOVED FROM DATABASE Percent 180950 SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE Asterisk 180960 S-ADENOSYLHOMOCYSTEINE HYDROLASE; AHCY SAHH Asterisk 180980 S-ADENOSYLMETHIONINE DECARBOXYLASE; AMD1 AMD Asterisk 180989 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 1; PRB1 BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 1 SALIVARY PROTEIN Pe, INCLUDED;; PAROTID MIDDLE BAND PROTEIN, INCLUDED; Pm, INCLUDED;; PmF, INCLUDED;; PmS, INCLUDED;; CON2, INCLUDED Asterisk 180990 PROLINE-RICH PROTEIN, BstNI SUBFAMILY, 4; PRB4 BASIC SALIVARY PROLINE-RICH PROTEIN, BstNI TYPE, 4 SALIVARY PROTEIN Po, INCLUDED Number Sign 181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1 SARCOIDOSIS;; BOECK SARCOID NULL 181010 SALIVARY DUCT CALCULI PAROTID DUCT CALCULI;; SUBMANDIBULAR DUCT CALCULI Number Sign 181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC SGPA;; PSA Asterisk 181031 S-ANTIGEN; SAG ARRESTIN;; S-ARRESTIN;; ROD ARRESTIN Asterisk 181035 TETRASPANIN 31; TSPAN31 SARCOMA AMPLIFIED SEQUENCE; SAS NULL 181180 SAY SYNDROME CLEFT PALATE, MICROCEPHALY, LARGE EARS, AND SHORT STATURE NULL 181200 SC(1) TRAIT OF SALIVA NULL 181250 SCALP DEFECTS AND POSTAXIAL POLYDACTYLY Number Sign 181270 SCALP-EAR-NIPPLE SYNDROME; SENS FINLAY-MARKS SYNDROME;; SEN SYNDROME NULL 181300 SCAPULA, CONTOUR OF VERTEBRAL BORDER OF Number Sign 181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2 EMD2;; EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT;; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY;; MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT;; HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY;; CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FORMERLY; LGMD1B, FORMERLY;; MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B, FORMERLY Number Sign 181400 SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK KAESER SYNDROME;; STARK-KAESER SYNDROME;; SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER Number Sign 181405 SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE Number Sign 181430 SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM SCAPULOPERONEAL MUSCULAR DYSTROPHY; SPMD;; SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE Percent 181440 SCHEUERMANN DISEASE SCHEUERMANN JUVENILE KYPHOSIS;; SPINAL OSTEOCHONDROSIS Number Sign 181450 ULNAR-MAMMARY SYNDROME; UMS PALLISTER ULNAR-MAMMARY SYNDROME;; SCHINZEL SYNDROME Percent 181460 SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO SCHISTOSOMA MANSONI, INTENSITY OF INFECTION BY; SM1 Number Sign 181500 SCHIZOPHRENIA; SCZD SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER Percent 181510 SCHIZOPHRENIA 1; SCZD1 SCHIZOPHRENIA 1 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 5-RELATED Caret 181515 MOVED TO 300977 Caret 181520 MOVED TO 104640 Asterisk 181590 SCL/TAL1-INTERRUPTING LOCUS; STIL SCL-INTERRUPTING LOCUS; SIL Number Sign 181600 HURIEZ SYNDROME; HRZ SCLEROTYLOSIS;; SCLEROATROPHIC AND KERATOTIC DERMATOSIS OF LIMBS NULL 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT Percent 181750 SCLERODERMA, FAMILIAL PROGRESSIVE SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TO CREST SYNDROME, INCLUDED Percent 181800 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1; IS1 ADOLESCENT ISOLATED SCOLIOSIS; AIS;; ADOLESCENT IDIOPATHIC SCOLIOSIS Number Sign 182000 KERATOSIS, SEBORRHEIC Asterisk 182090 SIMIAN SARCOMA-ASSOCIATED VIRUS-1/GIBBON APE LEUKEMIA VIRUS; SSAV1 GLV Asterisk 182098 SECRETIN RECEPTOR; SCTR Asterisk 182099 SECRETIN; SCT Asterisk 182100 FUCOSYLTRANSFERASE 2; FUT2 SECRETOR FACTOR; Se;; SEC2 Asterisk 182115 CYTOHESIN 1; CYTH1 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 1; PSCD1;; SEC7, YEAST, HOMOLOG OF; SEC7;; D17S811E Asterisk 182120 SECRETED PROTEIN, ACIDIC, CYSTEINE-RICH; SPARC OSTEONECTIN; ON;; BM40 Asterisk 182125 SEPIAPTERIN REDUCTASE; SPR Asterisk 182128 SERINE DEHYDRATASE; SDS SDH Asterisk 182131 5-HYDROXYTRYPTAMINE RECEPTOR 1B; HTR1B SEROTONIN 5-HT-1B RECEPTOR;; SEROTONIN 5-HT-1D-BETA RECEPTOR;; 5-HYDROXYTRYPTAMINE-1D-BETA RECEPTOR; HTR1DB Asterisk 182132 5-HYDROXYTRYPTAMINE RECEPTOR 1E; HTR1E SEROTONIN 5-HT-1E RECEPTOR Asterisk 182133 5-HYDROXYTRYPTAMINE RECEPTOR 1D; HTR1D SEROTONIN 5-HT-1D RECEPTOR;; 5-HYDROXYTRYPTAMINE RECEPTOR 1D-ALPHA; HTR1DA;; RDC4 Asterisk 182134 5-HYDROXYTRYPTAMINE RECEPTOR 1F; HTR1F 5-HYDROXYTRYPTAMINE-1E-LIKE RECEPTOR; HTR1EL;; SEROTONIN 5-HT-1F RECEPTOR;; SEROTONIN 5-HT-1E-LIKE RECEPTOR;; MR77 Asterisk 182135 5-HYDROXYTRYPTAMINE RECEPTOR 2A; HTR2A SEROTONIN 5-HT-2A RECEPTOR;; SEROTONIN 5-HT-2 RECEPTOR, FORMERLY; HTR2, FORMERLY Asterisk 182137 5-HYDROXYTRYPTAMINE RECEPTOR 7; HTR7 SEROTONIN 5-HT-7 RECEPTOR Asterisk 182138 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, SEROTONIN), MEMBER 4; SLC6A4 SEROTONIN TRANSPORTER; SERT;; 5-HYDROXYTRYPTAMINE TRANSPORTER; 5-HTT;; HTT Asterisk 182139 5-HYDROXYTRYPTAMINE RECEPTOR 3A; HTR3A 5-HYDROXYTRYPTAMINE RECEPTOR 3; HTR3;; SEROTONIN 5-HT-3 RECEPTOR Asterisk 182140 SEMENOGELIN I; SEMG1 SEMENOGELIN; SEMG;; CANCER/TESTIS ANTIGEN 103 Asterisk 182141 SEMENOGELIN II; SEMG2 Caret 182143 MOVED TO 177040 Asterisk 182144 SERINE HYDROXYMETHYLTRANSFERASE, CYTOSOLIC; SHMT1 Asterisk 182145 SERUM PROTEIN POLYMORPHISM M-158 SPPM-158 NULL 182150 SIMOSA CRANIOFACIAL SYNDROME Asterisk 182160 SIALOPHORIN; SPN LEUKOSIALIN; LSN;; LEUKOCYTE LARGE SIALOGLYCOPROTEIN;; CD43;; GPL115 Number Sign 182170 ANEMIA, SIDEROBLASTIC, 4; SIDBA4 Asterisk 182175 SIGNAL RECOGNITION PARTICLE, 19-KD; SRP19 Asterisk 182180 SIGNAL RECOGNITION PARTICLE RECEPTOR, ALPHA SUBUNIT; SRPRA SIGNAL RECOGNITION PARTICLE RECEPTOR; SRPR;; DOCKING PROTEIN; DP NULL 182190 SINUS NODE DISEASE AND MYOPIA SICK SINUS SYNDROME AND MYOPIA;; SSS-MYOPIA SYNDROME NULL 182200 SELLA TURCICA, BRIDGED Caret 182203 MOVED TO 162643 Asterisk 182205 SEX HORMONE-BINDING GLOBULIN; SHBG ANDROGEN-BINDING PROTEIN; ABP;; TESTOSTERONE-BINDING BETA-GLOBULIN; TEBG NULL 182210 SHPRINTZEN OMPHALOCELE SYNDROME OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY, DYSMORPHIC FACIES, AND SCOLIOSIS;; PHARYNX AND LARYNX HYPOPLASIA WITH OMPHALOCELE Number Sign 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS CRANIOSYNOSTOSIS WITH ARACHNODACTYLY AND ABDOMINAL HERNIAS;; MARFANOID DISORDER WITH CRANIOSYNOSTOSIS, TYPE I;; MARFANOID CRANIOSYNOSTOSIS SYNDROME NULL 182220 SISTER CHROMATID EXCHANGE, FREQUENCY OF SCE, FREQUENCY OF Number Sign 182230 SEPTOOPTIC DYSPLASIA DE MORSIER SYNDROME PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED;; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED Number Sign 182250 SINGLETON-MERTEN SYNDROME 1; SGMRT1 NULL 182255 SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION Asterisk 182257 PROTEINASE INHIBITOR 3; PI3 SKIN-DERIVED ANTILEUKOPROTEINASE; SKALP;; ANTILEUKOPROTEINASE, SKIN-DERIVED;; ELAFIN;; ELASTASE-SPECIFIC INHIBITOR; ESI;; TRAPPIN 2 NULL 182260 SLIPPED FEMORAL CAPITAL EPIPHYSES EPIPHYSIOLYSIS CAPITIS FEMORIS Asterisk 182265 SMALL PROLINE-RICH PROTEIN 1A; SPRR1A Asterisk 182266 SMALL PROLINE-RICH PROTEIN 1B; SPRR1B CORNIFIN Asterisk 182267 SMALL PROLINE-RICH PROTEIN 2A; SPRR2A Asterisk 182268 SMALL PROLINE-RICH PROTEIN 2B; SPRR2B NULL 182269 SMALL PROLINE-RICH PROTEIN 2C, PSEUDOGENE; SPRR2C NULL 182270 KETONE COMPOUNDS, ABILITY TO SMELL Asterisk 182271 SMALL PROLINE-RICH PROTEIN 3; SPRR3 Asterisk 182279 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN SMN SNRPN UPSTREAM READING FRAME, INCLUDED; SNURF, INCLUDED Percent 182280 SMALL CELL CANCER OF THE LUNG SCLC1;; SCLC; SCCL Asterisk 182281 CHEMOKINE, CC MOTIF, LIGAND 1; CCL1 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 1; SCYA1;; SMALL INDUCIBLE CYTOKINE A1;; INFLAMMATORY CYTOKINE I-309; I309 Asterisk 182282 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDES B AND B1; SNRPB SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDES B AND B-PRIME Asterisk 182283 CHEMOKINE, CC MOTIF, LIGAND 3; CCL3 SMALL INDUCIBLE CYTOKINE A3; SCYA3;; MACROPHAGE INFLAMMATORY PROTEIN 1-ALPHA; MIP1A;; LD78-ALPHA Asterisk 182284 CHEMOKINE, CC MOTIF, LIGAND 4; CCL4 SMALL INDUCIBLE CYTOKINE A4; SCYA4;; MACROPHAGE INFLAMMATORY PROTEIN 1-BETA; MIP1B;; MIP1B1;; IMMUNE ACTIVATION 2; ACT2;; AT744.1 Asterisk 182285 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A; SNRPA Number Sign 182290 SMITH-MAGENIS SYNDROME; SMS CHROMOSOME 17p11.2 DELETION SYNDROME SMITH-MAGENIS SYNDROME CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED Asterisk 182305 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A1; SLC8A1 SODIUM-CALCIUM EXCHANGER 1; NCX1 Asterisk 182307 SOLUTE CARRIER FAMILY 9, MEMBER 3; SLC9A3 SODIUM/HYDROGEN EXCHANGER 3; NHE3;; SODIUM/HYDROGEN EXCHANGER, APICAL EPITHELIAL Asterisk 182308 SOLUTE CARRIER FAMILY 17 (ORGANIC ANION COTRANSPORTER), MEMBER 1; SLC17A1 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 1;; SODIUM-PHOSPHATE TRANSPORT 1, KIDNEY; NPT1;; RENAL SODIUM-PHOSPHATE TRANSPORT PROTEIN 1 Asterisk 182309 SOLUTE CARRIER FAMILY 34 (TYPE II SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 1; SLC34A1 SOLUTE CARRIER FAMILY 17, MEMBER 2, FORMERLY; SLC17A2, FORMERLY;; SODIUM/PHOSPHATE TRANSPORT 2, KIDNEY; NPT2;; RENAL SODIUM/PHOSPHATE TRANSPORT PROTEIN 2;; NaPi3 Asterisk 182310 ATPase, Na+/K+ TRANSPORTING, ALPHA-1 POLYPEPTIDE; ATP1A1 SODIUM-POTASSIUM-ATPase, ALPHA-1 POLYPEPTIDE;; Na,K-ATPase, ALPHA-A CATALYTIC POLYPEPTIDE Asterisk 182330 ATPase, Na+/K+ TRANSPORTING, BETA-1 POLYPEPTIDE; ATP1B1 Na,K-ATPase BETA-1 POLYPEPTIDE Asterisk 182331 ATPase, Na+/K+ TRANSPORTING, BETA-2 POLYPEPTIDE; ATP1B2 Na,K-ATPase BETA-2 POLYPEPTIDE;; ADHESION MOLECULE ON GLIA; AMOG Asterisk 182340 ATPase, Na+/K+ TRANSPORTING, ALPHA-2 POLYPEPTIDE; ATP1A2 SODIUM-POTASSIUM-ATPase, ALPHA-2 POLYPEPTIDE;; Na,K-ATPase, ALPHA-A(+) CATALYTIC POLYPEPTIDE;; Na,K-ATPase, ALPHA-B POLYPEPTIDE Asterisk 182350 ATPase, Na+/K+ TRANSPORTING, ALPHA-3 POLYPEPTIDE; ATP1A3 SODIUM-POTASSIUM-ATPase, ALPHA-3 POLYPEPTIDE;; ATPase, Na+/K+, ALPHA III Asterisk 182360 ATPase, H+/K+ TRANSPORTING, NONGASTRIC, ALPHA POLYPEPTIDE; ATP12A HYDROGEN/POTASSIUM-EXCHANGING ATPase 12A;; ATPase, Na+/K+ TRANSPORTING, ALPHA POLYPEPTIDE-LIKE 1; ATP1AL1;; SODIUM/POTASSIUM-ATPase, ALPHA POLYPEPTIDE-LIKE Caret 182370 MOVED TO 182330 Asterisk 182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1; SLC5A1 SODIUM-GLUCOSE TRANSPORTER 1; SGLT1;; SODIUM-GLUCOSE COTRANSPORTER, INTESTINAL;; NA+/GLUCOSE COTRANSPORTER, HIGH AFFINITY; NAGT Asterisk 182381 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 2; SLC5A2 SODIUM-GLUCOSE TRANSPORTER 2; SGLT2;; SODIUM-GLUCOSE COTRANSPORTER, RENAL;; SODIUM-GLUCOSE COTRANSPORTER, KIDNEY LOW AFFINITY Asterisk 182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT; NAC1;; NAV1.1 Asterisk 182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA SUBUNIT; SCN2A SODIUM CHANNEL, BRAIN TYPE II, ALPHA SUBUNIT; NAC2;; NAV1.2;; SODIUM CHANNEL, NEURONAL TYPE II, ALPHA SUBUNIT-1, FORMERLY; SCN2A1, FORMERLY Asterisk 182391 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, ALPHA SUBUNIT; SCN3A SODIUM CHANNEL, NEURONAL TYPE III, ALPHA SUBUNIT;; SODIUM CHANNEL, BRAIN TYPE III, ALPHA SUBUNIT; NAC3;; NAV1.3 Asterisk 182392 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VII, ALPHA SUBUNIT; SCN7A SODIUM CHANNEL, NEURONAL TYPE VI, ALPHA SUBUNIT;; SODIUM CHANNEL, VOLTAGE-GATED, TYPE VI, ALPHA SUBUNIT; SCN6A Asterisk 182396 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 1; SLC10A1 SODIUM/TAUROCHOLATE COTRANSPORTING POLYPEPTIDE; NTCP;; SODIUM/TAUROCHOLATE COTRANSPORTING POLYPEPTIDE, HEPATIC; NTCP1 NULL 182400 SOMATOMEDIN, EMBRYONIC Number Sign 182410 SNEDDON SYNDROME; SNDNS LIVEDO RETICULARIS AND CEREBROVASCULAR ACCIDENTS Asterisk 182450 SOMATOSTATIN; SST SMST;; GROWTH HORMONE INHIBITORY HORMONE; GHIH SOMATOSTATIN 28, INCLUDED;; SOMATOSTATIN 14, INCLUDED;; NEURONOSTATIN, INCLUDED Asterisk 182451 SOMATOSTATIN RECEPTOR 1; SSTR1 Asterisk 182452 SOMATOSTATIN RECEPTOR 2; SSTR2 Asterisk 182453 SOMATOSTATIN RECEPTOR 3; SSTR3 Asterisk 182454 SOMATOSTATIN RECEPTOR 4; SSTR4 Plus 182455 SOMATOSTATIN RECEPTOR 5; SSTR5 SOMATOSTATIN ANALOG, RESISTANCE TO, INCLUDED Asterisk 182465 SON DNA-BINDING PROTEIN; SON Asterisk 182500 SORBITOL DEHYDROGENASE; SORD SORBITOL DEHYDROGENASE 1; SORD1 SORBITOL DEHYDROGENASE 2, INCLUDED; SORD2, INCLUDED Asterisk 182520 SORCIN; SRI MULTIDRUG-RESISTANCE COMPLEX, CLASS 4;; MDR COMPLEX, CLASS 4 Asterisk 182530 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1; SOS1 SOS1 GUANINE NUCLEOTIDE EXCHANGE FACTOR Asterisk 182590 TREFOIL FACTOR 2; TFF2 SPASMOLYTIC PROTEIN 1; SP; SML1 Number Sign 182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A SPG3;; STRUMPELL DISEASE;; FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1; FSP1 Number Sign 182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2; FSP2 NULL 182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPEMR NULL 182690 SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY Caret 182700 MOVED TO 270685 Asterisk 182790 SPECTRIN, BETA, NONERYTHROCYTIC, 1; SPTBN1 SPECTRIN, NONERYTHROID, BETA SUBUNIT; SPTB2;; BETA-SPECTRIN, GENERAL FORM;; BETA-G SPECTRIN;; FODRIN, BETA;; EMBRYONIC LIVER BETA-FODRIN; ELF;; SPECTRIN, BETA-II NULL 182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS Asterisk 182810 SPECTRIN, ALPHA, NONERYTHROCYTIC 1; SPTAN1 SPECTRIN, NONERYTHROID, ALPHA SUBUNIT; NEAS;; SPECTRIN, ALPHA-II;; FODRIN, ALPHA NULL 182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA NULL 182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY PRECOCIOUS PUBERTY WITH SPASTIC PARAPLEGIA NULL 182830 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA Asterisk 182860 SPECTRIN, ALPHA, ERYTHROCYTIC 1; SPTA1 Asterisk 182870 SPECTRIN, BETA, ERYTHROCYTIC; SPTB SPECTRIN, BETA-I NULL 182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE Asterisk 182878 OUTER DENSE FIBER OF SPERM TAILS 1; ODF1 OUTER DENSE FIBER OF SPERM TAILS, 27-KD; ODF27;; SPERM OUTER DENSE FIBER; SODF Caret 182879 MOVED TO 104776 Asterisk 182880 SPERM PROTAMINE P1; PRM1 NULL 182882 SPERM PROTAMINE P4; PRM4 Asterisk 182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2 SPERM RECEPTOR, SECONDARY Asterisk 182889 ZONA PELLUCIDA GLYCOPROTEIN 3; ZP3 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A;; SPERM RECEPTOR ZONA PELLUCIDA GLYCOPROTEIN 3B, INCLUDED; ZP3B, INCLUDED Asterisk 182890 SPERM PROTAMINE P2; PRM2 Asterisk 182891 SPERMIDINE SYNTHASE; SRM SPS1 Caret 182892 MOVED TO 300105 Number Sign 182900 SPHEROCYTOSIS, TYPE 1; SPH1 SPHEROCYTOSIS, HEREDITARY, 1; HS1;; SPH; HS Number Sign 182920 MYOPATHY, SPHEROID BODY Caret 182930 MOVED TO 167800 Number Sign 182940 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD SPINA BIFIDA, INCLUDED Percent 182950 SPINAL ARACHNOIDITIS Percent 182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1 HMN I;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE I; DHMN1;; SPINAL MUSCULAR ATROPHY, DISTAL, JUVENILE, AUTOSOMAL DOMINANT, I;; CHARCOT-MARIE-TOOTH DISEASE, SPINAL, I Percent 182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE FSHSMA Number Sign 182980 SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK FINKEL LATE-ADULT TYPE SMA;; SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT NULL 182990 SPINAL INTRADURAL ARACHNOID CYSTS Caret 183000 MOVED TO 137440 NULL 183020 SPINAL MUSCULAR ATROPHY, SEGMENTAL Percent 183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY Caret 183085 MOVED TO 109150 Number Sign 183086 SPINOCEREBELLAR ATAXIA 6; SCA6 Number Sign 183090 SPINOCEREBELLAR ATAXIA 2; SCA2 SPINOCEREBELLAR ATROPHY II;; OLIVOPONTOCEREBELLAR ATROPHY, HOLGUIN TYPE;; OLIVOPONTOCEREBELLAR ATROPHY II; OPCA2;; SPINOCEREBELLAR ATAXIA, CUBAN TYPE;; CEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS;; WADIA-SWAMI SYNDROME;; SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13, INCLUDED; ALS13, INCLUDED NULL 183100 SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS Caret 183250 REMOVED FROM DATABASE NULL 183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA SPLENOGONADAL FUSION LIMB DEFECT SYNDROME;; SGFLD SYNDROME NULL 183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T HELPER CELLS NULL 183400 SPLIT LOWER LIP NULL 183500 SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA Number Sign 183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 SPLIT-HAND/FOOT MALFORMATION 1 WITH OR WITHOUT DEAFNESS;; SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1;; SPLIT-HAND DEFORMITY;; ECTRODACTYLY; ECD NULL 183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS PATTERSON-STEVENSON-FONTAINE SYNDROME NULL 183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS NYSTAGMUS-SPLIT HAND SYNDROME;; KARSCH-NEUGEBAUER SYNDROME; KNS NULL 183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS Percent 183840 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2; SPDA2 NULL 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS WHYTE SYNDROME NULL 183850 SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY Number Sign 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC SED CONGENITA;; SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE NULL 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS Number Sign 184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SED, MAROTEAUX TYPE;; PSEUDO-MORQUIO SYNDROME, TYPE 2 Percent 184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT Percent 184200 SPONDYLOLISTHESIS Number Sign 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK SEMD, STRUDWICK TYPE;; SPONDYLOMETAEPIPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE;; SMED, STRUDWICK TYPE;; SMED, TYPE I;; STRUDWICK SYNDROME;; DAPPLED METAPHYSIS SYNDROME;; SPONDYLOMETAPHYSEAL DYSPLASIA; SMD;; SEMDC Number Sign 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK SMD, KOZLOWSKI TYPE NULL 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE;; SPONDYLOMETAPHYSEAL DYSPLASIA WITH SEVERE GENU VALGUM Number Sign 184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE; SMDCF SPONDYLOMETAPHYSEAL DYSPLASIA, SUTCLIFFE TYPE Number Sign 184260 ODONTOCHONDRODYSPLASIA; ODCD SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;; GOLDBLATT SYNDROME NULL 184300 SPONDYLOSIS, CERVICAL Percent 184400 SPRENGEL DEFORMITY HIGH SCAPULA Asterisk 184420 FARNESYLDIPHOSPHATE FARNESYLTRANSFERASE 1; FDFT1 SQUALENE SYNTHASE Asterisk 184429 SRY-BOX 2; SOX2 SRY-RELATED HMG-BOX GENE 2 Asterisk 184430 SRY-BOX 4; SOX4 SRY-RELATED HMG-BOX GENE 4;; ECOTROPIC VIRAL INTEGRATION SITE 16; EVI16 Number Sign 184450 STUTTERING, FAMILIAL PERSISTENT, 1; STUT1 STAMMERING Number Sign 184460 STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY;; TEUNISSEN-CREMERS SYNDROME;; STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM Asterisk 184470 STATHERIN; STATH STR Number Sign 184500 STEATOCYSTOMA MULTIPLEX SEBACEOUS CYSTS, MULTIPLE NULL 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH Asterisk 184600 CYSTATIN A; CSTA STEFIN A; STFA;; STF1 Caret 184601 MOVED TO 601145 Percent 184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1 PCO1; PCO;; PCOS;; STEIN-LEVENTHAL SYNDROME;; HYPERANDROGENEMIA NULL 184705 STEINFELD SYNDROME Asterisk 184745 KIT LIGAND; KITLG KL; KITL;; MAST CELL GROWTH FACTOR; MGF;; MGF STEM CELL FACTOR; SCF;; STEEL, MOUSE, HOMOLOG OF;; STEEL FACTOR; SF Caret 184747 MOVED TO 136351 Asterisk 184753 STEROID 5-ALPHA-REDUCTASE 1; SRD5A1 Caret 184754 MOVED TO 201910 Asterisk 184755 STEROL CARRIER PROTEIN 2; SCP2 STEROL CARRIER PROTEIN X; SCPX Asterisk 184756 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 1; SREBF1 STEROL REGULATORY ELEMENT-BINDING PROTEIN 1; SREBP1 Asterisk 184757 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1 FUSHI TARAZU FACTOR, DROSOPHILA, HOMOLOG 1; FTZF1; FTZ1;; STEROIDOGENIC FACTOR 1; SF1;; ADRENAL 4 BINDING PROTEIN; AD4BP NULL 184800 STERNUM, PREMATURE OBLITERATION OF SUTURES OF Number Sign 184840 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA OSMED, HETEROZYGOUS;; WEISSENBACHER-ZWEYMULLER SYNDROME; WZS;; PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE, FORMERLY;; STICKLER SYNDROME, TYPE III, FORMERLY; STL3, FORMERLY Percent 184850 STIFF-PERSON SYNDROME; SPS STIFF-MAN SYNDROME;; STIFF-TRUNK SYNDROME PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED; PERM, INCLUDED; PER, INCLUDED Number Sign 184900 STIFF SKIN SYNDROME; SSKS Number Sign 185000 OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHST OHS;; POTASSIUM-SODIUM DISORDER OF ERYTHROCYTE Caret 185010 MOVED TO 194380 Number Sign 185020 CRYOHYDROCYTOSIS; CHC STOMATOCYTOSIS, COLD-SENSITIVE Percent 185050 STORAGE POOL PLATELET DISEASE NULL 185069 STORM SYNDROME Number Sign 185070 STORMORKEN SYNDROME; STRMK THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS;; YORK PLATELET SYNDROME; YPS Percent 185100 STRABISMUS, SUSCEPTIBILITY TO STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED; STBMS1, INCLUDED NULL 185120 STRATTON-PARKER SYNDROME GROWTH HORMONE DEFICIENCY WITH WORMIAN BONES, CARDIAC ANOMALY, AND BRACHYCAMPTODACTYLY Percent 185200 STRIAE DISTENSAE, FAMILIAL Asterisk 185250 MATRIX METALLOPROTEINASE 3; MMP3 STROMELYSIN I; STMY1; STR1; SL1;; TRANSIN Asterisk 185260 MATRIX METALLOPROTEINASE 10; MMP10 STROMELYSIN II; STMY2; ST2; SL2 Asterisk 185261 MATRIX METALLOPROTEINASE 11; MMP11 STROMELYSIN III; STMY3 Number Sign 185300 STURGE-WEBER SYNDROME; SWS Caret 185400 MOVED TO 150360 Asterisk 185430 CLUSTERIN; CLU SULFATED GLYCOPROTEIN 2; SGP2;; APOLIPOPROTEIN J; APOJ;; COMPLEMENT-ASSOCIATED PROTEIN SP-40,40;; COMPLEMENT LYSIS INHIBITOR; CLI;; TESTOSTERONE-REPRESSED PROSTATE MESSAGE 2; TRPM2 Asterisk 185440 SUPPRESSOR OF TUMORIGENICITY 2; ST2 Caret 185450 REMOVED FROM DATABASE NULL 185460 SULFHEMOGLOBINEMIA, CONGENITAL Asterisk 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB SUCCINATE DEHYDROGENASE 2, S. CEREVISIAE, HOMOLOG OF;; SDH2, HOMOLOG OF NULL 185480 SUPRABULBAR PARESIS, CONGENITAL WORSTER-DROUGHT SYNDROME Asterisk 185490 SUPEROXIDE DISMUTASE 3; SOD3 SUPEROXIDE DISMUTASE, EXTRACELLULAR;; EC-SOD SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR, INCLUDED Number Sign 185500 SUPRAVALVULAR AORTIC STENOSIS; SVAS SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE Asterisk 185510 SURFACE ANTIGEN 5; S5 Asterisk 185520 SURFACE ANTIGEN 6; S6 Asterisk 185535 EPITHELIAL CELLULAR ADHESION MOLECULE; EPCAM TUMOR-ASSOCIATED CALCIUM SIGNAL TRANSDUCER 1; TACSTD1;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY AUAI; MIC18;; MEMBRANE COMPONENT, CHROMOSOME 4, SURFACE MARKER 1; M4S1;; GASTROINTESTINAL TUMOR-ASSOCIATED ANTIGEN 2, 35-KD GLYCOPROTEIN;; GA733-2 NULL 185540 SURFACE ANTIGEN, GLYCOPROTEIN 75 SURFACE GLYCOPROTEIN 75; SGP75 Asterisk 185560 SURFACE ANTIGEN 8; S8 Asterisk 185570 SURFACE ANTIGEN 17; SA17 S9 Asterisk 185580 SURFACE ANTIGEN 22; S13 Asterisk 185590 SURFACE ANTIGEN 21; S14 Caret 185595 REMOVED FROM DATABASE NULL 185600 SYMPHALANGISM OF TOES Asterisk 185605 SYNAPTOTAGMIN 1; SYT1 p65 NULL 185610 SURFACE POLYPEPTIDES, ANONYMOUS SPA2;; SPA5 Asterisk 185620 SURFEIT 1; SURF1 Asterisk 185630 SURFEIT 2; SURF2 Asterisk 185640 RIBOSOMAL PROTEIN L7a; RPL7A SURFEIT 3; SURF3 Asterisk 185641 MEDIATOR COMPLEX SUBUNIT 22; MED22 SURFEIT 5; SURF5 Asterisk 185642 SURFEIT 6; SURF6 NULL 185650 SYMPHALANGISM, C. S. LEWIS TYPE THUMBS, STIFF Asterisk 185660 SURFEIT 4; SURF4 ERV29, S. CEREVISIAE, HOMOLOG OF; ERV29 Percent 185700 SYMPHALANGISM, DISTAL SYM2 NULL 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET Number Sign 185800 SYMPHALANGISM, PROXIMAL, 1A; SYM1A SYM1;; CUSHING SYMPHALANGISM;; HEREDITARY ABSENCE OF THE PROXIMAL INTERPHALANGEAL JOINTS Asterisk 185860 SYNAPTIC VESICLE GLYCOPROTEIN 2A; SV2A SYNAPTIC VESICLE GLYCOPROTEIN 2; SV2 Asterisk 185861 SYNAPTIC VESICLE GLYCOPROTEIN 2B; SV2B KIAA0735 Asterisk 185880 VESICLE-ASSOCIATED MEMBRANE PROTEIN 1; VAMP1 SYNAPTOBREVIN 1; SYB1 Asterisk 185881 VESICLE-ASSOCIATED MEMBRANE PROTEIN 2; VAMP2 SYNAPTOBREVIN 2; SYB2 Number Sign 185900 CHROMOSOME 2q35 DUPLICATION SYNDROME SYNDACTYLY, TYPE I; SDTY1;; SD1;; ZYGODACTYLY CRANIOSYNOSTOSIS, PHILADELPHIA TYPE, INCLUDED Number Sign 186000 SYNPOLYDACTYLY 1; SPD1 SYNDACTYLY, TYPE II; SDTY2 Number Sign 186100 SYNDACTYLY, TYPE III SDTY3;; RING AND LITTLE FINGER SYNDACTYLY;; SYNDACTYLY OF FINGERS IV AND V Number Sign 186200 SYNDACTYLY, TYPE IV; SDTY4 HAAS TYPE SYNDACTYLY;; POLYSYNDACTYLY, HAAS TYPE;; SD4 Number Sign 186300 SYNDACTYLY, TYPE V; SDTY5 SYNDACTYLY WITH METACARPAL AND METATARSAL FUSION Percent 186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME SPEL SYNDROME Asterisk 186355 SYNDECAN 1; SDC1 SYND1;; SYNDECAN; SDC;; CD138 ANTIGEN; CD138 Asterisk 186357 SYNDECAN 3; SDC3 SYND3;; SYNDECAN, NEURAL TYPE;; N-SYNDECAN; SDCN Asterisk 186360 ANNEXIN A7; ANXA7 ANNEXIN VII; ANX7;; SYNEXIN; SNX Percent 186400 SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL CALCANEONAVICULAR COALITION Number Sign 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY;; SYMPHALANGISM-BRACHYDACTYLY SYNDROME;; WL SYNDROME;; DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN;; FACIOAUDIOSYMPHALANGISM SYNDROME Number Sign 186550 LIEBENBERG SYNDROME; LBNBG SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY;; BRACHYDACTYLY WITH JOINT DYSPLASIA Number Sign 186570 TARSAL-CARPAL COALITION SYNDROME; TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED NULL 186575 SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM Number Sign 186580 BLAU SYNDROME; BLAUS SARCOIDOSIS, EARLY-ONSET; EOS;; GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC;; ARTHROCUTANEOUVEAL GRANULOMATOSIS; ACUG;; JABS SYNDROME;; GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL;; GRANULOMATOSIS, FAMILIAL, BLAU TYPE Asterisk 186590 SYNTAXIN 1A; STX1A SYNTAXIN 1; STX1;; SYNTAXIN, BRAIN;; p35-1 Asterisk 186591 SYNTAXIN 4; STX4 STX4A;; SYNTAXIN, PLACENTAL;; p35-2 NULL 186600 SYRINGOMAS, MULTIPLE Caret 186690 REMOVED FROM DATABASE Percent 186700 SYRINGOMYELIA, NONCOMMUNICATING ISOLATED Asterisk 186710 T-CELL ACTIVATION ANTIGEN p250; TP250 Asterisk 186711 CD27 ANTIGEN; CD27 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 7; TNFRSF7;; T-CELL ACTIVATION ANTIGEN S152; S152 Asterisk 186720 CD6 ANTIGEN; CD6 T-CELL DIFFERENTIATION ANTIGEN CD6 Asterisk 186730 CD8 ANTIGEN, BETA POLYPEPTIDE; CD8B T-CELL GLYCOPROTEIN CD8B;; CD8B1 Asterisk 186740 CD3 ANTIGEN, GAMMA SUBUNIT; CD3G CD3-GAMMA;; T-CELL ANTIGEN RECEPTOR COMPLEX, GAMMA SUBUNIT OF T3; T3G Asterisk 186745 TALIN 1; TLN1 TALIN; TLN NULL 186750 TALONAVICULAR COALITION Asterisk 186760 ANTIGEN CD28; CD28 T-CELL ANTIGEN CD28;; Tp44 Asterisk 186770 T-CELL LEUKEMIA, HOMEOBOX 1; TLX1 HOMEOBOX 11; HOX11;; T-CELL LEUKEMIA 3 GENE; TCL3 Asterisk 186780 CD247 ANTIGEN; CD247 CD3 ANTIGEN, ZETA SUBUNIT; CD3Z;; CD3-ZETA;; T-CELL ANTIGEN RECEPTOR COMPLEX, ZETA SUBUNIT OF CD3; TCRZ Asterisk 186790 CD3 ANTIGEN, DELTA SUBUNIT; CD3D CD3-DELTA;; T-CELL ANTIGEN RECEPTOR COMPLEX, DELTA SUBUNIT OF T3; T3D;; OKT3, DELTA CHAIN Asterisk 186810 T-CELL RECEPTOR DELTA CHAIN CONSTANT REGION; TRDC Asterisk 186820 T-CELL ANTIGEN CD7; CD7 Tp41 Asterisk 186830 CD3 ANTIGEN, EPSILON SUBUNIT; CD3E CD3-EPSILON;; T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3; T3E; TCRE Asterisk 186845 CD81 ANTIGEN; CD81 TARGET OF ANTIPROLIFERATIVE ANTIBODY 1; TAPA1 Percent 186850 TARSAL COALITION TARSAL FUSION Asterisk 186852 PROTEASOME 26S SUBUNIT, ATPase, 3; PSMC3 TAT-BINDING PROTEIN 1; TBP1 Asterisk 186854 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, TAURINE), MEMBER 6; SLC6A6 TAURINE TRANSPORTER; TAUT Asterisk 186855 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 2; TAL2 Asterisk 186860 T-CELL LEUKEMIA/LYMPHOMA 4; TCL4 Asterisk 186880 T-CELL RECEPTOR ALPHA CHAIN CONSTANT REGION; TRAC Percent 186890 TEAR PROTEIN, ANODAL Asterisk 186910 CD8 ANTIGEN, ALPHA POLYPEPTIDE; CD8A p32;; OKT8 T-CELL ANTIGEN;; T8 T-CELL ANTIGEN; CD8 T-CELL ANTIGEN LEU2, INCLUDED; LEU2, INCLUDED;; LEU2 T-LYMPHOCYTE ANTIGEN, INCLUDED Caret 186920 REMOVED FROM DATABASE Asterisk 186921 LIM DOMAIN ONLY 1; LMO1 RHOMBOTIN 1; RBTN1;; RHOMBOSINE; RHOM1;; T-CELL TRANSLOCATION GENE 1; TTG1 Asterisk 186930 T-CELL RECEPTOR BETA CHAIN CONSTANT REGION 1; TRBC1 Asterisk 186940 CD4 ANTIGEN; CD4 T-CELL ANTIGEN T4/LEU3 Asterisk 186945 FK506-BINDING PROTEIN 1A; FKBP1A FK506-BINDING PROTEIN 1; FKBP1;; FK506-BINDING PROTEIN, 12-KD; FKBP12;; FK506-BINDING PROTEIN, T-CELL, 12-KD;; CALSTABIN 1 Asterisk 186946 FK506-BINDING PROTEIN 2; FKBP2 FK506-BINDING PROTEIN, T-CELL, 13-KD; FKBP13 Asterisk 186947 FK506-BINDING PROTEIN 3; FKBP3 FK506-BINDING PROTEIN, T-CELL, 25-KD; FKBP25 NULL 186950 T-CELL SUBGROUPS, NON-HLA-LINKED Asterisk 186960 T-CELL LEUKEMIA/LYMPHOMA 1A; TCL1A TCL1;; LYMPHOMA/LEUKEMIA, T-CELL Asterisk 186970 T-CELL RECEPTOR GAMMA CHAIN CONSTANT REGION 1; TRGC1 Asterisk 186973 IL2-INDUCIBLE T-CELL KINASE; ITK TYROSINE KINASE EXPRESSED MAINLY IN T CELLS; EMT;; T-CELL ITK/TSK TYROSINE KINASE, MOUSE, HOMOLOG OF Asterisk 186975 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1; TCTE1 Asterisk 186977 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 3; TCTE3 Asterisk 186980 T-COMPLEX 1; TCP1 T-COMPLEX HOMOLOG TCP1 Asterisk 186982 T-COMPLEX HOMOLOG TCP11; TCP11 Asterisk 186990 T-LYMPHOCYTE SURFACE CD2 ANTIGEN; CD2 T11;; SHEEP ERYTHROCYTE RECEPTOR; SRBC Percent 187000 TEETH, ODD SHAPES OF LOBODONTIA, INCLUDED;; CONICAL TEETH, MULTIPLE, INCLUDED Caret 187010 MOVED TO 187011 Asterisk 187011 CHEMOKINE, CC MOTIF, LIGAND 5; CCL5 SMALL INDUCIBLE CYTOKINE A5; SCYA5;; REGULATED UPON ACTIVATION, NORMALLY T-EXPRESSED, AND PRESUMABLY SECRETED; RANTES;; T CELL-SPECIFIC RANTES;; T CELL-SPECIFIC PROTEIN p228; TCP228 Asterisk 187020 T-COMPLEX 10; TCP10 TCP10A NULL 187030 T-COMPLEX LOCUS TCP10B; TCP10B Asterisk 187040 T-CELL ACUTE LYMPHOCYTIC LEUKEMIA 1; TAL1 STEM CELL LEUKEMIA HEMATOPOIETIC TRANSCRIPTION FACTOR; SCL;; T-CELL LEUKEMIA/LYMPHOMA 5; TCL5 NULL 187050 TEETH PRESENT AT BIRTH NATAL TEETH NULL 187100 TEETH, SUPERNUMERARY Percent 187260 TELANGIECTASIA, HEREDITARY BENIGN HBT;; TELANGIECTASIA, GENERALIZED ESSENTIAL Asterisk 187270 TELOMERASE REVERSE TRANSCRIPTASE; TERT TELOMERASE CATALYTIC SUBUNIT; TCS1;; EST2 Asterisk 187280 POLYMERASE III, RNA, SUBUNIT D; POLR3D TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51; BN51T;; TSBN51 NULL 187290 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142; H142T Number Sign 187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 HHT;; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;; OSLER-RENDU-WEBER DISEASE;; ORW DISEASE NULL 187310 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12 ts COMPLEMENTING, K12; K12T NULL 187320 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13; TS13 NULL 187330 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546; TS546 NULL 187340 TEMPERATURE-SENSITIVE LETHAL MUTATION NULL 187350 TELECANTHUS NULL 187360 TEMPORAL ARTERITIS GIANT CELL ARTERITIS; GCA;; CRANIAL ARTERITIS;; POLYMYALGIA RHEUMATICA Percent 187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10 CONGENITAL PLANTAR CONTRACTURES;; TENDO CALCANEUS, SHORT Asterisk 187380 TENASCIN C; TNC TENASCIN; TN;; CYTOTACTIN;; HEXABRACHION; HXB NULL 187390 TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF Plus 187395 TERATOCARCINOMA-DERIVED GROWTH FACTOR 1; TDGF1 CRIPTO GROWTH FACTOR; CRGF FOREBRAIN DEFECTS, INCLUDED NULL 187400 TESTICULAR TORSION TORSION OF TESTICULAR CORD Asterisk 187410 DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL; DNTT TERMINAL DEOXYNUCLEOTIDYLTRANSFERASE; TDT;; TERMINAL TRANSFERASE Asterisk 187430 CYSTEINE-RICH SECRETORY PROTEIN 2; CRISP2 TESTIS-SPECIFIC PROTEIN 1; TPX1;; TSP1 Caret 187450 MOVED TO 182205 Number Sign 187500 TETRALOGY OF FALLOT; TOF NULL 187501 TETRALOGY OF FALLOT AND GLAUCOMA NULL 187510 TETRAMELIC MONODACTYLY Asterisk 187520 TETRANECTIN; TNA NULL 187550 THALASSEMIA, BETA+, SILENT ALLELE Number Sign 187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1 THANATOPHORIC DYSPLASIA; TD;; THANATOPHORIC DWARFISM;; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE;; LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE Number Sign 187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2 THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL;; THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL;; CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM Percent 187650 THEOPHYLLINE BIOTRANSFORMATION Asterisk 187680 THIOPURINE S-METHYLTRANSFERASE; TPMT Asterisk 187700 THIOREDOXIN; TXN TRX;; TRX1 NULL 187750 THORACIC DYSOSTOSIS, ISOLATED NULL 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD BARNES SYNDROME NULL 187770 THORACOPELVIC DYSOSTOSIS Asterisk 187790 THREONYL-tRNA SYNTHETASE; TARS THRRS Number Sign 187800 BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT;; THROMBASTHENIA OF GLANZMANN AND NAEGELI, AUTOSOMAL DOMINANT Number Sign 187900 BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY Asterisk 187930 COAGULATION FACTOR II RECEPTOR; F2R CF2R;; THROMBIN RECEPTOR; TR;; PROTEASE-ACTIVATED RECEPTOR 1; PAR1 NULL 187940 THROMBOCYTE B; THB Number Sign 187950 THROMBOCYTHEMIA 1; THCYT1 THROMBOCYTOSIS 1 Number Sign 188000 THROMBOCYTOPENIA 2; THC2 THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2 NULL 188020 THROMBOCYTOPENIA, CYCLIC Number Sign 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT CHROMOSOME 11q23 DELETION SYNDROME NULL 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP IMMUNE THROMBOCYTOPENIC PURPURA; ITP;; IDIOPATHIC THROMBOCYTOPENIC PURPURA Asterisk 188035 PRO-PLATELET BASIC PROTEIN-LIKE 1; PPBPL1 THROMBOGLOBULIN, BETA-2; TGB2 Asterisk 188040 THROMBOMODULIN; THBD THRM;; CD141 ANTIGEN; CD141 Number Sign 188050 THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 THROMBOPHILIA DUE TO FACTOR 2 DEFECT;; VENOUS THROMBOSIS;; VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST, INCLUDED Number Sign 188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 ACTIVATED PROTEIN C RESISTANCE;; APC RESISTANCE;; THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR;; PROC COFACTOR DEFICIENCY;; PCCF DEFICIENCY;; THROMBOPHILIA V THROMBOPHILIA DUE TO FACTOR V LEIDEN, INCLUDED Asterisk 188060 THROMBOSPONDIN I; THBS1 TSP1 Asterisk 188061 THROMBOSPONDIN II; THBS2 TSP2 Asterisk 188062 THROMBOSPONDIN III; THBS3 Asterisk 188070 THROMBOXANE A2 RECEPTOR, PLATELET; TBXA2R NULL 188100 THUMB DEFORMITY NULL 188150 THUMB DEFORMITY AND ALOPECIA Caret 188200 MOVED TO 107000 NULL 188201 THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY Asterisk 188230 THY-1 T-CELL ANTIGEN; THY1 THETA ANTIGEN;; CD90 ANTIGEN; CD90 Asterisk 188250 THYMIDINE KINASE, MITOCHONDRIAL; TK2 Asterisk 188300 THYMIDINE KINASE, SOLUBLE; TK1 Asterisk 188340 THYMOCYTE ANTIGEN CD1C; CD1C BDCA1 Asterisk 188345 DEOXYTHYMIDYLATE KINASE; DTYMK THYMIDYLATE KINASE; TYMK;; CDC8 Asterisk 188350 THYMIDYLATE SYNTHETASE; TYMS THYMIDYLATE SYNTHASE; TS; TMS;; dTMP SYNTHASE Asterisk 188360 THYMOCYTE ANTIGEN CD1B; CD1B Asterisk 188370 THYMOCYTE ANTIGEN CD1A; CD1A CD1 Asterisk 188380 THYMOPOIETIN; TMPO TP;; LAMINA-ASSOCIATED POLYPEPTIDE 2; LAP2 Asterisk 188390 PROTHYMOSIN, ALPHA; PTMA THYMOSIN, ALPHA Caret 188395 MOVED TO 300159 Asterisk 188399 THYMOSIN, BETA-10; TMSB10 Number Sign 188400 DIGEORGE SYNDROME; DGS CHROMOSOME 22q11.2 DELETION SYNDROME;; HYPOPLASIA OF THYMUS AND PARATHYROIDS;; THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED;; TAKAO VCF SYNDROME, INCLUDED;; CATCH22, INCLUDED Asterisk 188410 THYMOCYTE ANTIGEN CD1D; CD1D Asterisk 188411 THYMOCYTE ANTIGEN CD1E; CD1E Asterisk 188450 THYROGLOBULIN; TG NULL 188455 THYROGLOSSAL DUCT CYST, FAMILIAL Number Sign 188470 THYROID CANCER, NONMEDULLARY, 2; NMTC2 Caret 188530 MOVED TO 118850 Asterisk 188540 THYROID-STIMULATING HORMONE, BETA CHAIN; TSHB THYROTROPIN, BETA CHAIN;; TSH-BETA Plus 188545 THYROTROPIN-RELEASING HORMONE RECEPTOR; TRHR THYROTROPIN-RELEASING HORMONE RESISTANCE, GENERALIZED, INCLUDED Number Sign 188550 THYROID CANCER, NONMEDULLARY, 1; NMTC1 PAPILLARY CARCINOMA OF THYROID; PACT; PTC; TPC;; FAMILIAL NONMEDULLARY THYROID CANCER, PAPILLARY;; NONMEDULLARY THYROID CARCINOMA, PAPILLARY Caret 188555 MOVED TO 179050 NULL 188560 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT HYPERTHYROXINEMIA, EUMETABOLIC, DUE TO T4 PLASMA MEMBRANE TRANSPORT;; DEFECT;; THYROID HORMONE RESISTANCE DUE TO T4 PLASMA MEMBRANE TRANSPORT DEFECT Number Sign 188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH GTHR;; THYROID HORMONE UNRESPONSIVENESS;; HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES Number Sign 188580 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1; TTPP1 Caret 188590 MOVED TO 190120 Asterisk 188595 THYROTROPH EMBRYONIC FACTOR; TEF Caret 188600 MOVED TO 314200 NULL 188700 BLOUNT DISEASE, INFANTILE OSTEOCHONDROSIS DEFORMANS TIBIAE, INFANTILE;; TIBIA VARA, INFANTILE Number Sign 188740 TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY; THYP TIBIAL HEMIMELIA-POLYDACTYLY-TRIPHALANGEAL THUMBS WITH FIBULAR DIMELIA Caret 188770 MOVED TO 188740 Percent 188800 TIBIAL TORSION, BILATERAL MEDIAL Asterisk 188825 TISSUE INHIBITOR OF METALLOPROTEINASE 2; TIMP2 Asterisk 188826 TISSUE INHIBITOR OF METALLOPROTEINASE 3; TIMP3 Asterisk 188830 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE I, ALPHA; PRKAR1A PROTEIN KINASE A, RI-ALPHA SUBUNIT;; TISSUE-SPECIFIC EXTINGUISHER 1; TSE1 PRKAR1A/RARA FUSION GENE, INCLUDED;; PTC2 CHIMERIC ONCOGENE, INCLUDED Asterisk 188840 TITIN; TTN CONNECTIN NULL 188850 TL ANTIGEN THYMUS LEUKEMIA ANTIGEN; TLA;; HISTOCOMPATIBILITY 2, T-REGION LOCUS 18; H2-T18 Asterisk 188855 GRANULYSIN; GNLY T-LYMPHOCYTE ACTIVATION GENE 519; TLA519;; D2S69E;; NKG5 Asterisk 188860 MYELIN AND LYMPHOCYTE PROTEIN; MAL T-LYMPHOCYTE MATURATION-ASSOCIATED PROTEIN;; T-CELL DIFFERENTIATION PROTEIN Number Sign 188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO CIGARETTE HABITUATION, SUSCEPTIBILITY TO;; SMOKING HABIT, SUSCEPTIBILITY TO;; NICOTINE DEPENDENCE, SUSCEPTIBILITY TO;; NICOTINE ADDICTION, SUSCEPTIBILITY TO;; NICOTINE DEPENDENCE, PROTECTION AGAINST NULL 189000 TOE, FIFTH, NUMBER OF PHALANGES IN NULL 189100 TOE, MISSHAPEN NULL 189150 TOE, ROTATED FIFTH NULL 189200 TOES, RELATIVE LENGTH OF FIRST AND SECOND NULL 189230 TOES, SPACE BETWEEN FIRST AND SECOND NULL 189300 TONGUE CURLING, FOLDING, OR ROLLING CLOVERLEAF TONGUE, INCLUDED;; TREFOIL TONGUE, INCLUDED NULL 189490 MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA ECTOPIC ERUPTION OF TEETH Number Sign 189500 WITKOP SYNDROME ECTODERMAL DYSPLASIA 3, WITKOP TYPE; ECTD3;; ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE;; NAIL DYSPLASIA WITH HYPODONTIA;; TOOTH-AND-NAIL SYNDROME; TNS NULL 189600 TORTICOLLIS Percent 189700 TORUS PALATINUS AND TORUS MANDIBULARIS Percent 189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1 PREG1;; PEE;; TOXEMIA OF PREGNANCY HYPERTENSION, PREGNANCY-INDUCED, INCLUDED;; HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT, INCLUDED; HELLP, INCLUDED Asterisk 189880 TRANSFER RNA ASPARAGINE 1; TRNAN1 tRNA ASPARAGINE 1; TRN1;; TRN Asterisk 189889 TRANSCRIPTION FACTOR CP2; TFCP2 ALPHA-GLOBIN TRANSCRIPTION FACTOR CP2;; LATE SV40 FACTOR; LSF LBP1C, INCLUDED;; LBP1D, INCLUDED Asterisk 189890 TRANSFER RNA ASPARAGINE-LIKE; TRNL Asterisk 189901 TRANSCRIPTION FACTOR 9; TCF9 TRANSCRIPTIONAL REPRESSOR GCF Asterisk 189902 TRANSCRIPTION FACTOR DP1; TFDP1 E2F DIMERIZATION PARTNER 1; DP1;; TRANSCRIPTION FACTOR, SEQUENCE-SPECIFIC, DRTF1 Asterisk 189903 NUCLEAR TRANSCRIPTION FACTOR Y, ALPHA; NFYA TRANSCRIPTION FACTOR NF-Y, A SUBUNIT;; NUCLEAR FACTOR BINDING TO Y BOX OF HLA GENES;; HAP2 CCAAT-BINDING PROTEIN Asterisk 189904 NUCLEAR TRANSCRIPTION FACTOR Y, BETA; NFYB TRANSCRIPTION FACTOR NF-Y, B SUBUNIT Asterisk 189905 TRANSCOBALAMIN I; TCN1 TC I;; TC1;; HAPTOCORRIN;; VITAMIN B12-BINDING PROTEIN 1;; COBALOPHILIN;; B12-BINDING ALPHA-GLOBULIN Asterisk 189906 TRANSCRIPTION FACTOR Sp1; SP1 SPECIFICITY PROTEIN 1 Asterisk 189907 HNF1 HOMEOBOX B; HNF1B TRANSCRIPTION FACTOR 2; TCF2;; TRANSCRIPTION FACTOR, LIVER-SPECIFIC, 3;; HEPATOCYTE NUCLEAR FACTOR-1-BETA;; HEPATIC NUCLEAR FACTOR-1-BETA;; HEPATOCYTE NUCLEAR FACTOR 2; HNF2 Asterisk 189908 TRANSCRIPTION FACTOR 7; TCF7 TRANSCRIPTION FACTOR, T CELL-SPECIFIC, 1;; T CELL FACTOR 1; TCF1 Asterisk 189909 ZINC FINGER E BOX-BINDING HOMEOBOX 1; ZEB1 TRANSCRIPTION FACTOR 8; TCF8;; T-LYMPHOCYTE-SPECIFIC INTERLEUKIN 2 INHIBITOR;; DELTA-EF1;; NIL2A Asterisk 189910 TRANSFER RNA SERINE (AGA) 2-4; TRS-AGA2-4 TRANSFER RNA SERINE 2; TRNAS2;; tRNA SERINE 2; TRS2;; tRNA-SER; TRNS Asterisk 189911 TRANSFER RNA GLYCINE 1; TRNAG1 TRANSFER RNA GLYCINE-CCC-1; TRG1 Asterisk 189912 TRANSFER RNA PROLINE (TGG) 3-5; TRP-TGG3-5 TRANSFER RNA PROLINE 3; TRNAP3;; TRP3 Asterisk 189913 TRANSFER RNA THREONINE (TGT) 6-1; TRT-TGT6-1 TRANSFER RNA THREONINE 1; TRNAT1;; TRT1 Asterisk 189918 TRANSFER RNA LYSINE (TTT) 3-4; TRK-TTT3-4 TRANSFER RNA LYSINE 1; TRNAK1;; tRNA LYSINE 1; TRK1;; tRNA LYSINE 1 (UUU) Asterisk 189919 TRANSFER RNA GLUTAMINE 1; TRNAQ1 tRNA GLUTAMINE 1; TRQ1 Asterisk 189920 TRANSFER RNA LEUCINE 2; TRNAL2 tRNA LEUCINE 2; TRL2 Asterisk 189921 TRANSFER RNA VALINE (AAC) 1-4; TRV-AAC1-4 TRANSFER RNA VALINE 1; TRNAV1;; tRNA VALINE 1; TRV1 Asterisk 189923 TRANSFER RNA GLUTAMINE 2; TRNAQ2 tRNA GLUTAMINE 2; TRQ2 Asterisk 189930 TRANSFER RNA PROLINE 1; TRNAP1 tRNA PROLINE 1; TRP1 Asterisk 189931 TRANSFER RNA PROLINE 2; TRNAP2 tRNA PROLINE 2; TRP2 Asterisk 189932 TRANSFER RNA LEUCINE (AAG) 2-1; TRL-AAG2-1 TRANSFER RNA LEUCINE 1; TRNAL1;; tRNA LEUCINE 1; TRL1 Asterisk 189933 TRANSFER RNA THREONINE 2; TRNAT2 tRNA THREONINE 2; TRT2 Asterisk 189940 TRANSLOCATED PROMOTER REGION; TPR TUMOR POTENTIATING REGION NULL 189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA ESOPHAGEAL ATRESIA WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA NULL 189961 TRACHEOPATHIA OSTEOPLASTICA TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA Asterisk 189962 GENERAL TRANSCRIPTION FACTOR IIE, POLYPEPTIDE 1; GTF2E1 TRANSCRIPTION FACTOR IIE, ALPHA SUBUNIT;; TFIIE, ALPHA SUBUNIT; TF2E1 Asterisk 189963 GENERAL TRANSCRIPTION FACTOR IIB; GTF2B RNA POLYMERASE II TRANSCRIPTION FACTOR IIB; TFIIB; TF2B;; TRANSCRIPTION FACTOR IIB Asterisk 189964 GENERAL TRANSCRIPTION FACTOR IIE, POLYPEPTIDE 2; GTF2E2 TRANSCRIPTION FACTOR IIE, BETA SUBUNIT;; TFIIE, BETA SUBUNIT; TF2E2 Asterisk 189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB C/EBP-BETA;; INTERLEUKIN 6-DEPENDENT DNA-BINDING PROTEIN; IL6DBP;; LIVER ACTIVATOR PROTEIN; LAP;; LIVER-ENRICHED TRANSCRIPTIONAL ACTIVATOR PROTEIN;; TRANSCRIPTION FACTOR 5; TCF5;; NFIL6 Asterisk 189967 TEA DOMAIN FAMILY MEMBER 1; TEAD1 TRANSCRIPTION FACTOR 13; TCF13;; TRANSCRIPTIONAL ENHANCER FACTOR 1; TEF1 Asterisk 189968 GENERAL TRANSCRIPTION FACTOR IIF, POLYPEPTIDE 1, 74-KD; GTF2F1 TRANSCRIPTION FACTOR IIF, ALPHA SUBUNIT;; TFIIF ALPHA;; TF2F1;; RAP74 Asterisk 189969 GENERAL TRANSCRIPTION FACTOR IIF, POLYPEPTIDE 2, 30-KD; GTF2F2 TRANSCRIPTION FACTOR IIF, BETA SUBUNIT; TF2F2;; TFIIF BETA;; RAP30 Asterisk 189970 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE 1; GNGT1 TRANSDUCIN, GAMMA POLYPEPTIDE Asterisk 189971 E2F TRANSCRIPTION FACTOR 1; E2F1 TRANSCRIPTION FACTOR E2F;; RETINOBLASTOMA-BINDING PROTEIN 3; RBP3;; RETINOBLASTOMA-ASSOCIATED PROTEIN 1; RBAP1 Asterisk 189972 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 1; GTF2H1 GTF2H, 62-KD SUBUNIT;; TRANSCRIPTION FACTOR IIH, 62-KD SUBUNIT;; TFIIH, 62-KD SUBUNIT;; TFB1 Asterisk 189973 E74-LIKE FACTOR 1; ELF1 ETS-RELATED TRANSCRIPTION FACTOR ELF1 Caret 189974 MOVED TO 139380 Asterisk 189980 ABELSON MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ABL1 TRANSFORMATION GENE: ONCOGENE ABL;; ABELSON STRAIN OF MURINE LEUKEMIA VIRUS; ABL ABL1/BCR FUSION GENE, INCLUDED;; ABL1/NUP214 FUSION GENE, INCLUDED Asterisk 189990 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG; MYB ONCOGENE MYB;; AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG;; ONCOGENE AMV Asterisk 190000 TRANSFERRIN; TF Asterisk 190010 TRANSFERRIN RECEPTOR; TFRC TRANSFERRIN RECEPTOR 1; TFR1;; TFR;; TRFR;; CD71 Asterisk 190020 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS HRAS1;; HARVEY MURINE SARCOMA VIRUS ONCOGENE; RASH1;; p21(RAS);; p21;; TRANSFORMATION GENE: ONCOGENE HAMSV Asterisk 190030 V-FES FELINE SARCOMA VIRAL/V-FPS FUJINAMI AVIAN SARCOMA VIRAL ONCOGENE HOMOLOG; FES ONCOGENE FES;; FELINE SARCOMA VIRUS;; FPS Asterisk 190040 PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE; PDGFB V-SIS PLATELET-DERIVED GROWTH FACTOR, BETA POLYPEPTIDE;; PLATELET-DERIVED GROWTH FACTOR, B CHAIN;; PDGF, B CHAIN;; PDGF2;; ONCOGENE SIS;; SIMIAN SARCOMA VIRAL ONCOGENE HOMOLOG; SSV PDGFB/COL1A1 FUSION GENE, INCLUDED Asterisk 190060 V-MOS MOLONEY MURINE SARCOMA VIRAL ONCOGENE HOMOLOG; MOS MOLONEY MURINE SARCOMA VIRUS; MSV;; ONCOGENE MOS Asterisk 190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS ONCOGENE KRAS2; KRAS2;; KIRSTEN MURINE SARCOMA VIRUS 2; RASK2;; C-KRAS V-KI-RAS1 PSEUDOGENE, INCLUDED; KRAS1P, INCLUDED;; ONCOGENE KRAS1, INCLUDED; KRAS1, INCLUDED;; KIRSTEN RAS1, INCLUDED; RASK1, INCLUDED Asterisk 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC ONCOGENE MYC;; AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG;; PROTOONCOGENE HOMOLOGOUS TO MYELOCYTOMATOSIS VIRUS Asterisk 190090 V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENE; SRC ONCOGENE SRC;; PROTOONCOGENE SRC;; SRC ONCOGENE;; AVIAN SARCOMA VIRUS; ASV Percent 190100 GENIOSPASM 1; GSM1 TREMBLING CHIN Caret 190110 MOVED TO 190070 Asterisk 190120 THYROID HORMONE RECEPTOR, ALPHA-1; THRA THYROID HORMONE RECEPTOR, CENTRAL NERVOUS SYSTEM FORM; THRA1;; ERBA-ALPHA;; ONCOGENE ERBA; ERBA;; ERBA-RELATED 7; EAR7;; V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 1; ERBA1 THYROID HORMONE RECEPTOR, ALPHA-2, INCLUDED; THRA2, INCLUDED;; THYROID HORMONE RECEPTOR, ALPHA-3, INCLUDED; THRA3, INCLUDED Asterisk 190151 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 3; ERBB3 ONCOGENE ERBB3;; TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER3; HER3 Asterisk 190160 THYROID HORMONE RECEPTOR, BETA; THRB V-ERB-A AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBA2;; ONCOGENE ERBA2;; ERBA-BETA Asterisk 190170 TRANSFORMING GROWTH FACTOR, ALPHA; TGFA Asterisk 190180 TRANSFORMING GROWTH FACTOR, BETA-1; TGFB1 TGF-BETA; TGFB Asterisk 190181 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE I; TGFBR1 ACTIVIN RECEPTOR-LIKE KINASE 5; ALK5 Asterisk 190182 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE II; TGFBR2 Caret 190190 MOVED TO 154280 Asterisk 190195 TRANSGLUTAMINASE 1; TGM1 TRANSGLUTAMINASE, KERATINOCYTE; TGK;; TRANSGLUTAMINASE, EPIDERMAL TYPE I Asterisk 190196 TRANSGLUTAMINASE 2; TGM2 TRANSGLUTAMINASE, TISSUE;; TRANSGLUTAMINASE C; TGC;; GUANINE NUCLEOTIDE-BINDING PROTEIN, H POLYPEPTIDE; GNAH;; G PROTEIN, ALPHA SUBUNIT, Gh CLASS;; G-ALPHA-h Asterisk 190197 CONTACTIN 2; CNTN2 TRANSIENTLY-EXPRESSED AXONAL GLYCOPROTEIN; TAX1;; TAG1, RAT, HOMOLOG OF;; AXONIN 1 Asterisk 190198 NOTCH RECEPTOR 1; NOTCH1 NOTCH, DROSOPHILA, HOMOLOG OF, 1;; TRANSLOCATION-ASSOCIATED NOTCH HOMOLOG; TAN1 NULL 190200 TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS Asterisk 190220 TRANSFORMING GROWTH FACTOR, BETA-2; TGFB2 Asterisk 190230 TRANSFORMING GROWTH FACTOR, BETA-3; TGFB3 Asterisk 190231 TRANSITION PROTEIN 1; TNP1 TP1 Asterisk 190232 TRANSITION PROTEIN 2; TNP2 Number Sign 190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 TREMOR, FAMILIAL ESSENTIAL, 1; FET1 Percent 190310 TREMOR, NYSTAGMUS, AND DUODENAL ULCER Asterisk 190315 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, CITRATE TRANSPORTER), MEMBER 1; SLC25A1 SOLUTE CARRIER FAMILY 20, MEMBER 3, FORMERLY; SLC20A3, FORMERLY;; TRICARBOXYLATE TRANSPORT PROTEIN, MITOCHONDRIAL;; CITRATE TRANSPORT PROTEIN; CTP;; SCHEGGIA, DROSOPHILA, HOMOLOG OF; SEA Number Sign 190320 TRICHODENTOOSSEOUS SYNDROME; TDO TDO SYNDROME Number Sign 190330 TRICHOMEGALY; TCMGLY EYELASHES, LONG Percent 190340 DISCOID FIBROMAS, FAMILIAL MULTIPLE; FMDF TRICHODISCOMAS, FAMILIAL MULTIPLE NULL 190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC Number Sign 190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 TRPS I Number Sign 190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 SUGIO-KAJII SYNDROME NULL 190360 TRICHODYSPLASIA-XERODERMA Asterisk 190370 TRICHOHYALIN; TCHH THH;; THL;; TRHY NULL 190400 TRIGEMINAL NEURALGIA TIC DOULOUREUX NULL 190410 TRIGGER THUMB NULL 190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I NULL 190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II Number Sign 190440 TRIGONOCEPHALY 1; TRIGNO1 CRANIOSYNOSTOSIS, METOPIC NULL 190445 TRIIODOTHYRONINE RECEPTOR AUXILIARY PROTEIN; TRAP Asterisk 190450 TRIOSEPHOSPHATE ISOMERASE 1; TPI1 TPI Asterisk 190470 TRIPEPTIDYL PEPTIDASE II; TPP2 NULL 190500 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES Percent 190600 TRIPHALANGEAL THUMB, NONOPPOSABLE Caret 190605 MOVED TO 174500 NULL 190650 TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA Percent 190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY Number Sign 190685 DOWN SYNDROME TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION, INCLUDED; DCR, INCLUDED;; DOWN SYNDROME CRITICAL REGION, INCLUDED; DSCR, INCLUDED;; TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME, INCLUDED;; LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, INCLUDED Asterisk 190700 ZINC FINGER PROTEIN 36, MOUSE, HOMOLOG OF; ZFP36 TRISTETRAPROLIN; TTP NULL 190800 TRISTICHIASIS EYELASHES, THREE ROWS OF Number Sign 190900 TRITANOPIA COLORBLINDNESS, TRITANOPIC;; BLUE COLORBLINDNESS;; COLORBLINDNESS, TRITAN; CBT Asterisk 190920 TROPHOBLAST GLYCOPROTEIN; TPBG M6P1 Asterisk 190930 TROPOMODULIN; TMOD E-TROPOMODULIN; ETMOD Asterisk 190940 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 1; ERVT1 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 1; TRV1 Asterisk 190950 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 2; ERVT2 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 2; TRV2 Asterisk 190960 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 3; ERVT3 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 3; TRV3 Asterisk 190970 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 4; ERVT4 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 4; TRV4 Asterisk 190980 ENDOGENOUS RETROVIRAL SEQUENCE, TRUNCATED 5; ERVT5 TRUNCATED ENDOGENOUS RETROVIRAL SEQUENCE 5; TRV5 Asterisk 190990 TROPOMYOSIN 2; TPM2 TROPOMYOSIN, SKELETAL MUSCLE BETA; TMSB NULL 191000 TROCHLEA OF THE HUMERUS, APLASIA OF Asterisk 191010 TROPOMYOSIN 1; TPM1 TROPOMYOSIN, SKELETAL MUSCLE ALPHA; TMSA Caret 191020 MOVED TO 120920 Asterisk 191030 TROPOMYOSIN 3; TPM3 ALPHA-TROPOMYOSIN 3;; ALPHA-TROPOMYOSIN, SLOW SKELETAL TRK ONCOGENE, INCLUDED;; TPM3/NTRK1 FUSION GENE, INCLUDED Asterisk 191039 TROPONIN C, FAST; TNNC2 TROPONIN C, FAST SKELETAL Asterisk 191040 TROPONIN C, SLOW; TNNC1 TROPONIN C, SLOW-TWITCH SKELETAL MUSCLE;; TROPONIN C, CARDIAC; TNC Asterisk 191041 TROPONIN T1, SKELETAL, SLOW; TNNT1 TROPONIN T Asterisk 191042 TROPONIN I, SLOW-TWITCH SKELETAL MUSCLE ISOFORM; TNNI1 Asterisk 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2 Asterisk 191044 TROPONIN I, CARDIAC; TNNI3 TROPONIN I, CARDIAC MUSCLE ISOFORM Asterisk 191045 TROPONIN T2, CARDIAC; TNNT2 Asterisk 191050 TRYPTOPHANYL-tRNA SYNTHETASE; WARS TRYPTOPHANYL-tRNA SYNTHETASE, CYTOPLASMIC;; TRPRS;; IFP53 Asterisk 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1 TPH Asterisk 191070 TRYPTOPHAN 2,3-DIOXYGENASE; TDO2 TRYPTOPHAN OXYGENASE; TRPO Asterisk 191080 TRYPTASE, ALPHA/BETA-1; TPSAB1 MAST CELL PROTEASE 7; MCP7 TRYPTASE, ALPHA, INCLUDED;; TRYPTASE, ALPHA-I, INCLUDED;; TRYPTASE, ALPHA-II, INCLUDED;; TRYPTASE I, INCLUDED;; TRYPTASE, BETA-I, INCLUDED Asterisk 191081 TRYPTASE, BETA-2; TPSB2 TRYPTASE, BETA;; TRYPTASE II;; TRYPTASE, BETA-II;; MAST CELL PROTEASE 6; MCP6 TRYPTASE III, INCLUDED;; TRYPTASE, BETA-III, INCLUDED Caret 191090 MOVED TO 191100 Caret 191091 MOVED TO 191100 Asterisk 191092 TSC2 GENE; TSC2 TUBERIN;; TSC4 GENE, FORMERLY; TSC4, FORMERLY Number Sign 191100 TUBEROUS SCLEROSIS 1; TSC1 TUBEROUS SCLEROSIS COMPLEX; TSC;; TUBEROSE SCLEROSIS; TS Asterisk 191110 TUBULIN, ALPHA-4A; TUBA4A TUBULIN, ALPHA-1; TUBA1;; TUBULIN, ALPHA, TESTIS-SPECIFIC;; H2-ALPHA Asterisk 191120 TUBULIN, ALPHA-LIKE 1; TUBAL1 H-ALPHA-44 Asterisk 191130 TUBULIN, BETA; TUBB TUBULIN, BETA, CLASS I;; TUBB5;; M40 Asterisk 191135 TUBULIN, GAMMA-1; TUBG1 TUBG;; TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 1; TUBGCP1 NULL 191150 TUFTSIN DEFICIENCY Asterisk 191155 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 1; TM4SF1 TUMOR-ASSOCIATED ANTIGEN L6; TAAL6;; MEMBRANE COMPONENT, CHROMOSOME 3, SURFACE MARKER 1; M3S1 Asterisk 191160 TUMOR NECROSIS FACTOR; TNF TUMOR NECROSIS FACTOR, ALPHA; TNFA;; CACHECTIN;; TNF, MONOCYTE-DERIVED;; TNF, MACROPHAGE-DERIVED Asterisk 191161 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 1; TNFAIP1 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN, ENDOTHELIAL Asterisk 191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3 A20;; OTU DOMAIN-CONTAINING PROTEIN 7C; OTUD7C Asterisk 191164 EPHRIN A1; EFNA1 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 1; EPLG1;; TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 4; TNFAIP4;; LIGAND OF EPH-RELATED KINASE 1; LERK1;; EFL1 Asterisk 191170 TUMOR PROTEIN p53; TP53 P53;; TRANSFORMATION-RELATED PROTEIN 53; TRP53 Asterisk 191175 HEAT-SHOCK PROTEIN, 90-KD, BETA, 1; HSP90B1 TUMOR REJECTION ANTIGEN 1;; TRA1;; STRESS-INDUCIBLE TUMOR REJECTION ANTIGEN GP96;; GLUCOSE-REGULATED PROTEIN, 94-KD; GRP94 Percent 191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3 TUMOR-SUPPRESSOR GENE, HELA CELL TYPE; TSHL;; CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN; CCTS Asterisk 191190 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 1A; TNFRSF1A TUMOR NECROSIS FACTOR RECEPTOR 1; TNFR1;; TUMOR NECROSIS FACTOR-ALPHA RECEPTOR; TNFAR;; TNFR, 55-KD;; TNFR, 60-KD Asterisk 191191 TUMOR NECROSIS FACTOR RECEPTOR SUBFAMILY, MEMBER 1B; TNFRSF1B TUMOR NECROSIS FACTOR RECEPTOR 2; TNFR2;; TUMOR NECROSIS FACTOR, BETA RECEPTOR; TNFBR;; TNFR, 75-KD;; TNFR, 80-KD Asterisk 191195 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 8; MAP3K8 TUMOR PROGRESSION LOCUS 2; TPL2;; CANCER OSAKA THYROID ONCOGENE; COT;; ONCOGENE COT;; EWING SARCOMA TRANSFORMANT; EST Percent 191200 TUNE DEAFNESS DYSMELODIA;; AMUSIA, CONGENITAL;; TONE DEAFNESS NULL 191250 TWINNING DUE TO SUPERFETATION SUPERFETATION TWINNING NULL 191270 TYROSINASE-LIKE; TYRL TYROSINASE-RELATED SEGMENT Asterisk 191275 DOPACHROME TAUTOMERASE; DCT TYROSINASE-RELATED PROTEIN 2; TYRP2 Asterisk 191290 TYROSINE HYDROXYLASE; TH Asterisk 191305 TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK Asterisk 191306 KINASE INSERT DOMAIN RECEPTOR; KDR TYROSINE KINASE GROWTH FACTOR RECEPTOR;; FLK1, MOUSE, HOMOLOG OF; FLK1;; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR; VEGFR;; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 2; VEGFR2 Caret 191309 MOVED TO 190151 Asterisk 191311 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 2; DDR2 NEUROTROPHIC TYROSINE KINASE RECEPTOR-RELATED 3; NTRKR3;; TYROSINE KINASE RECEPTOR RELATED TO NEUROTROPHIC TRK; TKT Asterisk 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1; NTRK1 TYROSINE KINASE RECEPTOR; TRK;; TYROSINE KINASE RECEPTOR A; TRKA TRK ONCOGENE, INCLUDED;; NTRK1/TPM3 FUSION GENE, INCLUDED;; NTRK1/TFG FUSION GENE, INCLUDED Asterisk 191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3 TYROSINE KINASE RECEPTOR C; TRKC;; NEUROTROPHIN 3 RECEPTOR NTRK3/ETV6 FUSION GENE, INCLUDED Asterisk 191317 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 1; U2AF1 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, 35-KD SUBUNIT; U2AF35 Asterisk 191318 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 2; U2AF2 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, 65-KD SUBUNIT; U2AF65 Caret 191320 MOVED TO 191339 Asterisk 191321 UBIQUITIN A-52-RESIDUE RIBOSOMAL PROTEIN FUSION PRODUCT; UBA52 HUMAN UBIQUITIN CARBOXYL EXTENSION PROTEIN, 52-RESIDUE; HUBCEP52;; UBCEP, 52-AMINO ACID; CEP52;; RIBOSOMAL PROTEIN L40; RPL40 Asterisk 191325 UBIQUITIN-ACTIVATING ENZYME 7; UBE7 UBIQUITIN-ACTIVATING ENZYME E1-LIKE; UBE1L Asterisk 191327 UBIQUINOL-CYTOCHROME c REDUCTASE, RIESKE IRON-SULFUR; UQCRFS1 RIESKE IRON-SULFUR PROTEIN; RISP Asterisk 191328 UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN I; UQCRC1 CYTOCHROME bc1 Asterisk 191329 UBIQUINOL-CYTOCHROME c REDUCTASE CORE PROTEIN II; UQCRC2 Asterisk 191330 UBIQUINOL-CYTOCHROME c REDUCTASE-BINDING PROTEIN; UQCRB UBIQUINONE-BINDING PROTEIN; UQBC;; UQPC Asterisk 191339 UBIQUITIN B; UBB POLYUBIQUITIN B Asterisk 191340 UBIQUITIN C; UBC POLYUBIQUITIN Asterisk 191342 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1; UCHL1 UBIQUITIN C-TERMINAL HYDROLASE, NEURON-SPECIFIC;; PGP9.5 Asterisk 191343 RIBOSOMAL PROTEIN S27a; RPS27A UBIQUITIN A-80-RESIDUE RIBOSOMAL PROTEIN FUSION PRODUCT; UBA80;; HUMAN UBIQUITIN CARBOXYL EXTENSION PROTEIN, 80-RESIDUE; HUBCEP80; CEP80;; UBIQUITIN CARBOXYL EXTENSION PROTEIN 1; UBCEP1 Caret 191344 MOVED TO 191321 Asterisk 191350 DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; DPAGT1 UDP-GlcNAc:DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE;; DPAGT2;; GlcNAc-1-P TRANSFERASE Percent 191390 INFLAMMATORY BOWEL DISEASE 11; IBD11 NULL 191400 ULNA AND FIBULA, HYPOPLASIA OF MESOMELIC DWARFISM OF HYPOPLASTIC ULNA AND FIBULA TYPE;; REINHARDT-PFEIFFER MESOMELIC DYSPLASIA NULL 191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME METAPHYSEAL CHONDRODYSPLASIA, ROSENBERG TYPE Percent 191440 ULNAR HYPOPLASIA UPPER LIMB MESOMELIC DYSPLASIA Number Sign 191480 UNCOMBABLE HAIR SYNDROME 1; UHS1 UNCOMBABLE HAIR SYNDROME; UHS;; PILI TRIANGULI ET CANALICULI NULL 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY BORK SYNDROME Percent 191500 UNDRITZ ANOMALY HYPERSEGMENTATION OF NUCLEI OF POLYMORPHONUCLEAR LEUKOCYTES Asterisk 191510 COLD-SHOCK DOMAIN-CONTAINING E1, RNA-BINDING; CSDE1 GENE UPSTREAM OF NRAS;; UNR;; D1S155E Percent 191520 UPINGTON DISEASE PERTHES-LIKE HIP DISEASE, ENCHONDROMATA, AND ECCHONDROMATA Asterisk 191523 UPSTREAM TRANSCRIPTION FACTOR 1; USF1 UPSTREAM STIMULATORY FACTOR 1;; MAJOR LATE TRANSCRIPTION FACTOR; MLTF Asterisk 191525 URACIL-DNA GLYCOSYLASE; UNG DNA GLYCOSYLASE, URACIL; DGU URACIL-DNA GLYCOSYLASE, MITOCHONDRIAL ISOFORM, INCLUDED; UDG1M, INCLUDED;; UNG1, INCLUDED;; UDG1, INCLUDED;; URACIL-DNA GLYCOSYLASE, NUCLEAR ISOFORM, INCLUDED; UDG1N, INCLUDED;; UNG2, INCLUDED;; UDG1A, INCLUDED Percent 191530 URATE-BINDING GLOBULIN, DECREASE IN NULL 191540 URATE OXIDASE, PSEUDOGENE; UOX URICASE Percent 191550 URETER, BIFID OR DOUBLE NULL 191600 URETER, CANCER OF NULL 191650 URETEROCELE NULL 191700 UROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT NEPHROLITHIASIS, URIC ACID, AUTOSOMAL DOMINANT Asterisk 191710 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 1, CYTOSOLIC; CMPK1 CYTIDINE MONOPHOSPHATE KINASE; CMPK;; CYTIDYLATE KINASE; CMK;; URIDINE MONOPHOSPHATE/CYTIDINE MONOPHOSPHATE KINASE;; UMP/CMP KINASE;; UMP/CMPK;; URIDINE MONOPHOSPHATE KINASE; UMPK; UMK Asterisk 191720 5-PRIME,3-PRIME-NUCLEOTIDASE, CYTOSOLIC; NT5C PYRIMIDINE 5-PRIME NUCLEOTIDASE 2; P5N2;; URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 2; UMPH2;; DEOXYRIBONUCLEOTIDASE, CYTOSOLIC, 1; DNT1 Asterisk 191730 URIDINE PHOSPHORYLASE 1; UPP1 Asterisk 191740 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1; UGT1A1 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A1;; URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 1; UGT1;; UDP-GLYCOSYLTRANSFERASE 1;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE, BILIRUBIN;; BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A GENE COMPLEX, INCLUDED; UGT1A, INCLUDED;; UGT1A GENE COMPLEX, INCLUDED Caret 191741 MOVED TO 191740 Caret 191742 MOVED TO 600067 AND 191740 Caret 191743 MOVED TO 191742 Caret 191750 MOVED TO 191760 Asterisk 191760 URIDYL DIPHOSPHATE GLUCOSE PYROPHOSPHORYLASE 2; UGP2 UGPP2;; UDPG;; UGP1 NULL 191800 URINARY BLADDER, ATONY OF Caret 191810 MOVED TO 131530 Number Sign 191830 RENAL HYPODYSPLASIA/APLASIA 1; RHDA1 RENAL ADYSPLASIA;; RENAL AGENESIS;; RENAL APLASIA;; HEREDITARY RENAL APLASIA; HRA Asterisk 191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU UPA;; UROKINASE; URK Asterisk 191845 UROMODULIN; UMOD TAMM-HORSFALL GLYCOPROTEIN; THP; THGP NULL 191850 URTICARIA, AQUAGENIC Number Sign 191900 MUCKLE-WELLS SYNDROME; MWS URTICARIA-DEAFNESS-AMYLOIDOSIS SYNDROME;; UDA SYNDROME;; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 2; CAPS2 NULL 191950 URTICARIA, FAMILIAL LOCALIZED HEAT NULL 192000 UTERINE ANOMALIES Asterisk 192020 SECRETOGLOBIN, FAMILY 1A, MEMBER 1; SCGB1A1 UTEROGLOBIN; UGB;; BLASTOKININ;; CLARA CELL SECRETORY PROTEIN; CCSP;; CLARA CELL-SPECIFIC 10-KD PROTEIN; CC10; CC10KD;; CLARA CELL-SPECIFIC 16-KD PROTEIN; CC16 NULL 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS Caret 192070 REMOVED FROM DATABASE Asterisk 192090 CADHERIN 1; CDH1 CADHERIN, EPITHELIAL;; E-CADHERIN; CDHE; ECAD;; UVOMORULIN; UVO;; CALCIUM-DEPENDENT ADHESION PROTEIN, EPITHELIAL;; LIVER CELL ADHESION MOLECULE; LCAM NULL 192100 UVULA, BIFID UVULA, CLEFT Asterisk 192130 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A1; ATP6V0A1 ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN 1A; ATP6N1A;; ATP6N1;; VACUOLAR PROTON PUMP, SUBUNIT 1; VPP1 Asterisk 192132 ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 1; ATP6V1B1 ATP6B1;; VACUOLAR PROTON PUMP, SUBUNIT 3; VPP3 Asterisk 192150 VALYL-tRNA SYNTHETASE; VARS VALYL-tRNA SYNTHETASE 1; VARS1;; G7A;; VALRS;; VARS2, FORMERLY NULL 192200 VARICOSE VEINS Asterisk 192225 VASCULAR CELL ADHESION MOLECULE 1; VCAM1 Asterisk 192240 VASCULAR ENDOTHELIAL GROWTH FACTOR A; VEGFA VEGF NULL 192300 VASCULAR HELIX OF UMBILICAL CORD NULL 192310 VASCULITIS, LYMPHOCYTIC, NODULAR Number Sign 192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;; RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUD AND MIGRAINE PHENOMENA Asterisk 192320 VASOACTIVE INTESTINAL PEPTIDE; VIP PHM27, INCLUDED Asterisk 192321 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 1; VIPR1 VIP RECEPTOR, TYPE I; VIPR;; PITUITARY ADENYLATE CYCLASE-ACTIVATING POLYPEPTIDE RECEPTOR, TYPE II;; PACAP RECEPTOR, TYPE II;; HVR1 Asterisk 192340 ARGININE VASOPRESSIN; AVP ARVP;; VASOPRESSIN-NEUROPHYSIN II;; ANTIDIURETIC HORMONE; ADH NEUROPHYSIN II, INCLUDED; NPII, INCLUDED Percent 192350 VATER/VACTERL ASSOCIATION NULL 192400 VEINS, PATTERN OF, ON ANTERIOR THORAX Number Sign 192430 VELOCARDIOFACIAL SYNDROME CHROMOSOME 22q11.2 DELETION SYNDROME;; VCF SYNDROME; VCFS;; SHPRINTZEN VCF SYNDROME NULL 192445 VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE Caret 192450 MOVED TO 603829 Number Sign 192500 LONG QT SYNDROME 1; LQT1 WARD-ROMANO SYNDROME; WRS;; ROMANO-WARD SYNDROME; RWS;; VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;; LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED Number Sign 192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1 CMH;; VENTRICULAR HYPERTROPHY, HEREDITARY;; ASYMMETRIC SEPTAL HYPERTROPHY; ASH;; HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC Number Sign 192605 VENTRICULAR TACHYCARDIA, FAMILIAL VENTRICULAR TACHYCARDIA, FAMILIAL POLYMORPHIC NULL 192700 VENULAR INSUFFICIENCY, SYSTEMIC NULL 192800 VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS Percent 192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS Number Sign 192950 VERTICAL TALUS, CONGENITAL; CVT ROCKER-BOTTOM FOOT;; PES VALGUS, CONGENITAL CONVEX Asterisk 192968 INTEGRIN, ALPHA-1; ITGA1 VERY LATE ACTIVATION PROTEIN 1; VLA1 Caret 192972 MOVED TO 192975 Asterisk 192974 INTEGRIN, ALPHA-2; ITGA2 VERY LATE ACTIVATION PROTEIN 2 RECEPTOR, ALPHA-2 SUBUNIT;; VLA2 RECEPTOR, ALPHA-2 SUBUNIT; VLAA2;; CD49B;; GLYCOPROTEIN Ia;; GP Ia Asterisk 192975 INTEGRIN, ALPHA-4; ITGA4 VERY LATE ACTIVATION PROTEIN 4 RECEPTOR, ALPHA-4 SUBUNIT;; VLA4 RECEPTOR, ALPHA-4 SUBUNIT;; CD49D Asterisk 192977 VERY LOW DENSITY LIPOPROTEIN RECEPTOR; VLDLR Percent 193000 VESICOURETERAL REFLUX 1; VUR1 VUR Asterisk 193001 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 2; SLC18A2 VESICULAR AMINE TRANSPORTER 2; VAT2;; VESICULAR MONOAMINE TRANSPORTER 2; VMAT2;; SYNAPTIC VESICLE MONOAMINE TRANSPORTER, BRAIN; SVMT;; SYNAPTIC VESICLE AMINE TRANSPORTER, BRAIN; SVAT Asterisk 193002 SOLUTE CARRIER FAMILY 18 (VESICULAR MONOAMINE), MEMBER 1; SLC18A1 VESICULAR AMINE TRANSPORTER 1; VAT1;; VESICULAR MONOAMINE TRANSPORTER 1; VMAT1;; ADRENAL CHROMAFFIN GRANULE AMINE TRANSPORTER; CGAT Percent 193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4 VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS NULL 193005 VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE Percent 193007 VERTIGO, BENIGN RECURRENT; BRV VERTIGO, BENIGN PAROXYSMAL POSITIONAL; BPPV;; VESTIBULOPATHY, FAMILIAL VERTIGO, BENIGN RECURRENT, 1, INCLUDED; BRV1, INCLUDED Caret 193010 MOVED TO 112266 Asterisk 193040 VILLIN; VIL VILLIN 1; VIL1 Caret 193050 MOVED TO 125630 Asterisk 193060 VIMENTIN; VIM Asterisk 193065 VINCULIN; VCL METAVINCULIN, INCLUDED Asterisk 193067 FRIEND LEUKEMIA VIRUS INTEGRATION 1; FLI1 VIRAL INTEGRATION REGION FLI1, MOUSE, HOMOLOG OF EWING SARCOMA BREAKPOINT REGION 2, INCLUDED; EWSR2, INCLUDED;; FLI1/EWS FUSION GENE, INCLUDED NULL 193070 VIRUS RD114 RNA COMPLEMENTARITY Percent 193090 TRANSCOBALAMIN I DEFICIENCY TCN1 DEFICIENCY;; COBALAMIN PSEUDODEFICIENCY DUE TO TRANSCOBALAMIN DEFICIENCY;; COBALAMIN R BINDER PROTEIN DEFICIENCY TRANSCOBALAMIN I DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED;; R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED Number Sign 193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT;; HYPOPHOSPHATEMIA, AUTOSOMAL DOMINANT Asterisk 193190 VITRONECTIN; VTN SERUM SPREADING FACTOR;; COMPLEMENT S-PROTEIN;; SOMATOMEDIN B Percent 193200 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6; VAMAS6 Asterisk 193210 INTEGRIN, ALPHA-V; ITGAV VITRONECTIN RECEPTOR, ALPHA POLYPEPTIDE; VNRA;; CD51 Number Sign 193220 VITREORETINOCHOROIDOPATHY; VRCP VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT; ADVIRC;; VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT;; VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, INCLUDED; MRCS, INCLUDED Number Sign 193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD SNOWFLAKE VITREORETINAL DEGENERATION Number Sign 193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI PROLIFERATIVE VITREORETINOPATHY; PVR;; VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, AUTOSOMAL DOMINANT; ADNIV NULL 193240 VOCAL CORD PARALYSIS AND PTOSIS Asterisk 193245 VOLTAGE-DEPENDENT ANION CHANNEL 2; VDAC2 Percent 193250 VOLVULUS OF MIDGUT INTESTINAL MALROTATION, FAMILIAL Caret 193290 MOVED TO 151675 Number Sign 193300 VON HIPPEL-LINDAU SYNDROME; VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED Number Sign 193400 VON WILLEBRAND DISEASE, TYPE 1; VWD1 VON WILLEBRAND DISEASE, TYPE I;; VWD, TYPE 1 NULL 193450 VULVOVAGINITIS, ALLERGIC SEMINAL Number Sign 193500 WAARDENBURG SYNDROME, TYPE 1; WS1 WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM Number Sign 193510 WAARDENBURG SYNDROME, TYPE 2A; WS2A WAARDENBURG SYNDROME, TYPE IIA;; WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM;; WS2 Number Sign 193520 WATSON SYNDROME; WTSN PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS;; CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS Asterisk 193525 WEE1, S. POMBE, HOMOLOG OF; WEE1 WEE1 TYROSINE KINASE;; WEE1, SOMATIC; WEE1A Number Sign 193530 WEYERS ACROFACIAL DYSOSTOSIS; WAD ACRODENTAL DYSOSTOSIS OF WEYERS;; CURRY-HALL SYNDROME Number Sign 193670 WHIM SYNDROME; WHIMS WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME Caret 193675 REMOVED FROM DATABASE Caret 193680 MOVED TO 128101 Number Sign 193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A FREEMAN-SHELDON SYNDROME; FSS;; WHISTLING FACE-WINDMILL VANE HAND SYNDROME;; CRANIOCARPOTARSAL DYSTROPHY;; CRANIOCARPOTARSAL DYSPLASIA Number Sign 193900 WHITE SPONGE NEVUS 1; WSN1 WHITE SPONGE NEVUS OF CANNON;; LEUKOKERATOSIS, HEREDITARY MUCOSAL NULL 194000 WIDOW'S PEAK Number Sign 194050 WILLIAMS-BEUREN SYNDROME; WBS CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB;; WILLIAMS SYNDROME; WMS; WS Number Sign 194070 WILMS TUMOR 1; WT1 NEPHROBLASTOMA Number Sign 194071 WILMS TUMOR 2; WT2 Number Sign 194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME; WAGR WAGR SYNDROME;; CHROMOSOME 11p13 DELETION SYNDROME Number Sign 194080 DENYS-DRASH SYNDROME; DDS DRASH SYNDROME;; WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM;; NEPHROPATHY, WILMS TUMOR, AND GENITAL ANOMALIES Percent 194090 WILMS TUMOR 3; WT3 Caret 194100 MOVED TO 106600 Number Sign 194190 WOLF-HIRSCHHORN SYNDROME; WHS CHROMOSOME 4p16.3 DELETION SYNDROME;; PITT-ROGERS-DANKS SYNDROME; PRDS;; PITT SYNDROME;; WITTWER SYNDROME Number Sign 194200 WOLFF-PARKINSON-WHITE SYNDROME WPW SYNDROME PREEXCITATION SYNDROME, INCLUDED;; ACCESSORY ATRIOVENTRICULAR PATHWAYS, INCLUDED Number Sign 194300 WOOLLY HAIR, AUTOSOMAL DOMINANT; ADWH NULL 194320 WORONETS TRAIT Percent 194350 WT LIMB-BLOOD SYNDROME Asterisk 194355 X BOX-BINDING PROTEIN 1; XBP1 X BOX-BINDING PROTEIN 2; XBP2 Asterisk 194360 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1; XRCC1 X-RAY REPAIR CROSS-COMPLEMENTING 1 Asterisk 194363 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XRCC4 Asterisk 194364 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; XRCC5 Ku ANTIGEN, 80-KD SUBUNIT; Ku80;; Ku86 NULL 194370 X-RAY SENSITIVITY; XRS Number Sign 194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS;; XEROCYTOSIS, HEREDITARY;; DESICCYTOSIS, HEREDITARY;; PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1;; PSEUDOHYPERKALEMIA EDINBURGH NULL 194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD Asterisk 194450 YEAST FACTOR Asterisk 194460 ALPHA-2-GLYCOPROTEIN, ZINC; AZGP1 ZINC-ALPHA-2-GLYCOPROTEIN; ZAG; ZA2G Percent 194470 ZINC, ELEVATED PLASMA ALBUMIN BINDING OF ZINC, ELEVATED;; HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC HYPERZINCEMIA AND HYPERCALPROTECTINEMIA, INCLUDED Asterisk 194480 ZINC FINGER PROTEIN 3, MOUSE, HOMOLOG OF; ZFP3 Asterisk 194490 ZINC FINGER PROTEIN 1; ZNF1 Asterisk 194500 ZINC FINGER PROTEIN 2; ZNF2 Asterisk 194510 ZINC FINGER PROTEIN 3; ZNF3 Caret 194520 REMOVED FROM DATABASE Asterisk 194521 ZINC FINGER PROTEIN 33A; ZNF33A ZINC FINGER AND ZAK-ASSOCIATED PROTEIN WITH KRAB DOMAIN; ZZAPK;; KIAA0065;; ZINC FINGER PROTEIN 11A; ZNF11A;; ZNF11;; KOX2 Asterisk 194522 ZINC FINGER PROTEIN 33B; ZNF33B ZINC FINGER PROTEIN 11B; ZNF11B Asterisk 194524 ZINC FINGER PROTEIN 18; ZNF18 KOX11 Asterisk 194525 ZINC FINGER PROTEIN 19; ZNF19 KOX12 Asterisk 194526 ZINC FINGER PROTEIN 34; ZNF34 KOX32 Asterisk 194527 ZINC FINGER PROTEIN 23; ZNF23 ZINC FINGER PROTEIN 359; ZNF359 Asterisk 194528 ZINC FINGER PROTEIN 25; ZNF25 KOX19 Asterisk 194529 ZINC FINGER PROTEIN 22; ZNF22 KOX15 Caret 194530 REMOVED FROM DATABASE Asterisk 194531 ZINC FINGER PROTEIN 7; ZNF7 KOX4 Asterisk 194532 ZINC FINGER PROTEIN 8; ZNF8 Asterisk 194533 ZINC FINGER PROTEIN 35; ZNF35 ZINC FINGER PROTEIN HF.10; HF10 Asterisk 194534 ZINC FINGER PROTEIN 24; ZNF24 KOX17;; ZNF191 Asterisk 194535 ZINC FINGER PROTEIN 29; ZNF29 KOX26 Asterisk 194536 ZINC FINGER PROTEIN 12; ZNF12 KOX3 Asterisk 194537 ZINC FINGER PROTEIN 26; ZNF26 KOX20 Asterisk 194538 ZINC FINGER PROTEIN 10; ZNF10 KOX1 Asterisk 194539 ZINC FINGER PROTEIN 32; ZNF32 Asterisk 194540 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 1; HIVEP1 ZINC FINGER PROTEIN 40; ZNF40;; MAJOR HISTOCOMPATIBILITY COMPLEX-BINDING PROTEIN 1; MBP1;; POSITIVE REGULATORY DOMAIN II-BINDING FACTOR 1; PRDIIBF1;; ZAS FAMILY, MEMBER 1; ZAS1 Asterisk 194541 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 25; ZBTB25 ZINC FINGER PROTEIN KUP; KUP;; ZINC FINGER PROTEIN 46, FORMERLY; ZNF46, FORMERLY Asterisk 194542 ZINC FINGER PROTEIN 44; ZNF44 KOX7 Asterisk 194543 ZINC FINGER PROTEIN 69; ZNF69 Asterisk 194544 ZINC FINGER PROTEIN 70; ZNF70 Asterisk 194545 ZINC FINGER PROTEIN 71; ZNF71 ENDOTHELIAL ZINC FINGER PROTEIN INDUCED BY TNF-ALPHA; EZFIT Asterisk 194546 ZINC FINGER PROTEIN 72; ZNF72 Asterisk 194547 ZINC FINGER PROTEIN 73; ZNF73 Asterisk 194548 ZINC FINGER PROTEIN 74; ZNF74 Asterisk 194549 ZINC FINGER PROTEIN 76; ZNF76 D6S229E Asterisk 194550 MYELOID ZINC FINGER GENE 1; MZF1 ZINC FINGER PROTEIN 42; ZNF42;; ZINC FINGER, MYELOID, RETINOIC ACID-RESPONSIVE;; MZF1B Asterisk 194551 ZINC FINGER PROTEIN 77; ZNF77 Asterisk 194552 ZINC FINGER PROTEIN 79; ZNF79 Asterisk 194553 ZINC FINGER PROTEIN 80; ZNF80 Asterisk 194554 ZINC FINGER PROTEIN 45; ZNF45 ZINC FINGER PROTEIN 13; ZNF13;; KOX5 Asterisk 194555 ZINC FINGER PROTEIN 224; ZNF224 KOX22 ZINC FINGER PROTEIN 255, INCLUDED; ZNF255, INCLUDED;; BONE MARROW ZINC FINGER PROTEIN 2, INCLUDED; BMZF2, INCLUDED Asterisk 194556 ZINC FINGER PROTEIN 14; ZNF14 KOX6 Asterisk 194557 ZINC FINGER PROTEIN 20; ZNF20 KOX13 Asterisk 194558 ZINC FINGER PROTEIN 83; ZNF83 Asterisk 194624 ZINC FINGER PROTEIN 117; ZNF117 Asterisk 194628 ZINC FINGER PROTEIN 121; ZNF121 Asterisk 194630 ZINC FINGER PROTEIN 123; ZNF123 Asterisk 194631 ZINC FINGER PROTEIN 124; ZNF124 Asterisk 194632 ZINC FINGER PROTEIN 125; ZNF125 Asterisk 194633 ZINC FINGER PROTEIN 126; ZNF126 Asterisk 194648 ZINC FINGER PROTEIN 141; ZNF141 Asterisk 195000 ZONA PELLUCIDA GLYCOPROTEIN 1; ZP1 Caret 195002 MOVED TO 182889 Number Sign 200100 ABETALIPOPROTEINEMIA; ABL ACANTHOCYTOSIS;; BASSEN-KORNZWEIG SYNDROME;; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY;; MTP DEFICIENCY Number Sign 200110 ABLEPHARON-MACROSTOMIA SYNDROME; AMS NULL 200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION PSEUDOPROGERIA SYNDROME Number Sign 200150 CHOREOACANTHOCYTOSIS; CHAC LEVINE-CRITCHLEY SYNDROME;; ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER;; NEUROACANTHOCYTOSIS;; CHOREA-ACANTHOCYTOSIS NULL 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT NULL 200300 ACETOPHENETIDIN SENSITIVITY Asterisk 200350 ACETYL-CoA CARBOXYLASE-ALPHA; ACACA ACCA;; ACETYL-CoA CARBOXYLASE 1; ACC1 Percent 200400 ACHALASIA, FAMILIAL ESOPHAGEAL Caret 200440 MOVED TO 231550 NULL 200450 ACHALASIA-MICROCEPHALY SYNDROME Number Sign 200500 ACHEIROPODY; ACHP ACHEIROPODIA;; ACHEIROPODY, BRAZILIAN TYPE Number Sign 200600 ACHONDROGENESIS, TYPE IA; ACG1A ACHONDROGENESIS, HOUSTON-HARRIS TYPE Number Sign 200610 ACHONDROGENESIS, TYPE II; ACG2 ACHONDROGENESIS, LANGER-SALDINO TYPE;; CHONDROGENESIS IMPERFECTA;; ACHONDROGENESIS, TYPE IB, FORMERLY HYPOCHONDROGENESIS, INCLUDED Number Sign 200700 CHONDRODYSPLASIA, GREBE TYPE ACHONDROGENESIS, BRAZILIAN;; GREBE CHONDRODYSPLASIA;; GREBE DYSPLASIA;; ACROMESOMELIC DYSPLASIA, GREBE TYPE; AMDG;; ACHONDROGENESIS, TYPE II, FORMERLY Caret 200710 MOVED TO 200610 Caret 200720 MOVED TO 200610 NULL 200900 SHORT-LIMB SKELETAL DYSPLASIA WITH SEVERE COMBINED IMMUNODEFICIENCY SLSD WITH SCID;; ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY Caret 200930 REMOVED FROM DATABASE NULL 200950 ACID PHOSPHATASE DEFICIENCY NULL 200970 ACKERMAN SYNDROME MOLAR ROOTS, PYRAMIDAL, WITH JUVENILE GLAUCOMA AND UNUSUAL UPPER LIP;; GLAUCOMA, JUVENILE, WITH UNUSUAL UPPER LIP AND DENTAL ROOTS NULL 200980 ACRORENAL-MANDIBULAR SYNDROME ACRORENAL-UTERINE-MANDIBULAR SYNDROME; ARUMS;; SPLIT-HAND AND SPLIT-FOOT WITH MANDIBULAR HYPOPLASIA Number Sign 200990 ACROCALLOSAL SYNDROME; ACLS HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;; SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;; JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED NULL 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA ELEJALDE SYNDROME Number Sign 201000 CARPENTER SYNDROME 1; CRPT1 CARPENTER SYNDROME;; ACROCEPHALOPOLYSYNDACTYLY TYPE II;; ACPS II NULL 201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV ACPS IV;; GOODMAN SYNDROME NULL 201050 ACROCRANIOFACIAL DYSOSTOSIS Number Sign 201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ Percent 201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ RODRIGUEZ LETHAL ACROFACIAL DYSOSTOSIS SYNDROME NULL 201180 ACROFRONTOFACIONASAL DYSOSTOSIS 1 AFFN DYSOSTOSIS 1; AFFND1;; POLYSYNDACTYLY, POSTAXIAL, FRONTONASAL DYSOSTOSIS, AND CLEFT LIP/PALATE;; CLEFT LIP/PALATE WITH FRONTONASAL DYSOSTOSIS AND POSTAXIAL POLYSYNDACTYLY Caret 201181 MOVED TO 239710 NULL 201200 ACROGERIA, GOTTRON TYPE METAGERIA;; ACROMETAGERIA Number Sign 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH ACROMESOMELIC DWARFISM Number Sign 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A HSAN IIA;; NEUROPATHY, HEREDITARY SENSORY, TYPE IIA; HSN2A;; HSN IIA;; ACROOSTEOLYSIS, NEUROGENIC;; ACROOSTEOLYSIS, GIACCAI TYPE;; NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE;; MORVAN DISEASE;; NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN;; NEUROPATHY, CONGENITAL SENSORY NULL 201310 ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE Number Sign 201400 ACTH DEFICIENCY, ISOLATED; IAD ADRENOCORTICOTROPIC HORMONE DEFICIENCY Number Sign 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD ACADM DEFICIENCY;; MCAD DEFICIENCY;; MCADH DEFICIENCY;; CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY Caret 201460 MOVED TO 201475 Number Sign 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD ACADS DEFICIENCY;; LIPID-STORAGE MYOPATHY SECONDARY TO SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY;; SCADH DEFICIENCY;; SCAD DEFICIENCY Number Sign 201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD VLCAD DEFICIENCY Percent 201550 ADDUCTED THUMBS SYNDROME Number Sign 201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH ADRENAL HYPERPLASIA I;; LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISM Number Sign 201750 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1 Number Sign 201810 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY ADRENAL HYPERPLASIA II;; 3-BETA-HSD DEFICIENCY; HSDB Number Sign 201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA III;; 21-HYDROXYLASE DEFICIENCY;; CYP21 DEFICIENCY;; CONGENITAL ADRENAL HYPERPLASIA 1; CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, INCLUDED Number Sign 202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA IV;; STEROID 11-BETA-HYDROXYLASE DEFICIENCY;; 11-BETA-HYDROXYLASE DEFICIENCY;; ADRENAL HYPERPLASIA, HYPERTENSIVE FORM;; P450C11B1 DEFICIENCY Number Sign 202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA V;; 17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-LYASE DEFICIENCY, ISOLATED, INCLUDED;; 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE, INCLUDED;; 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL, INCLUDED NULL 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE NULL 202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE Number Sign 202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1 FAMILIAL GLUCOCORTICOID DEFICIENCY 1; FGD1;; ADRENAL UNRESPONSIVENESS TO ACTH;; ACTH RESISTANCE Number Sign 202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED NULL 202355 ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT FAMILIAL GLUCOCORTICOID DEFICIENCY DUE TO DEFECT DISTAL TO ACTH RECEPTOR Number Sign 202370 PEROXISOME BIOGENESIS DISORDER 2B; PBD2B Number Sign 202400 AFIBRINOGENEMIA, CONGENITAL HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED Caret 202500 MOVED TO 600899 AND 601457 NULL 202550 AGANGLIONOSIS, TOTAL INTESTINAL NULL 202600 AGENESIS OF CEREBRAL WHITE MATTER Number Sign 202650 AGNATHIA-OTOCEPHALY COMPLEX; AGOTC DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY;; HOLOPROSENCEPHALY-AGNATHIA;; OTOCEPHALY NULL 202660 PAGOD SYNDROME AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS Number Sign 202700 NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 NULL 202900 ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS STIMMLER SYNDROME NULL 203000 FRONTONASAL DYSPLASIA WITH ALAR CLEFTS ALAR-NASAL CARTILAGES, COLOBOMA OF, WITH TELECANTHUS Number Sign 203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A OCULOCUTANEOUS ALBINISM, TYPE I; OCA1;; ALBINISM I;; OCULOCUTANEOUS ALBINISM, TYROSINASE-NEGATIVE; ATN Number Sign 203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 OCULOCUTANEOUS ALBINISM, TYPE II;; OCULOCUTANEOUS ALBINISM, TYROSINASE-POSITIVE;; ALBINISM II ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED;; BROWN OCULOCUTANEOUS ALBINISM, INCLUDED Caret 203280 MOVED TO 606952 Caret 203285 MOVED TO 608233 Number Sign 203290 ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 OCULOCUTANEOUS ALBINISM, TYPE III;; ALBINISM III;; RUFOUS OCULOCUTANEOUS ALBINISM; ROCA;; XANTHISM Number Sign 203300 HERMANSKY-PUDLAK SYNDROME 1; HPS1 ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS;; DELTA STORAGE POOL DISEASE Caret 203310 MOVED TO 203200 Percent 203330 PSEUDOHYPOPARATHYROIDISM, TYPE II; PHP2 PHP II NULL 203340 ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME MICROCEPHALY-ALBINISM-DIGITAL ANOMALIES SYNDROME Number Sign 203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY CMO I DEFICIENCY;; ALDOSTERONE DEFICIENCY I;; HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1A;; ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE;; 18-HYDROXYLASE DEFICIENCY;; STEROID 18-HYDROXYLASE DEFICIENCY Number Sign 203450 ALEXANDER DISEASE; ALXDRD Number Sign 203500 ALKAPTONURIA; AKU HOMOGENTISIC ACID OXIDASE DEFICIENCY NULL 203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME ACD MENTAL RETARDATION SYNDROME NULL 203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN MOYNAHAN ALOPECIA SYNDROME Number Sign 203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1 APMR;; AMR SYNDROME Number Sign 203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC ATRICHIA, GENERALIZED Number Sign 203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS;; ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY;; ALPERS SYNDROME;; ALPERS-HUTTENLOCHER SYNDROME;; NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE; PNDC Percent 203740 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY ALPHA-KGD DEFICIENCY;; 2-KETOGLUTARATE DEHYDROGENASE DEFICIENCY;; OXOGLUTARIC ACIDURIA Number Sign 203750 ALPHA-METHYLACETOACETIC ACIDURIA 2-METHYL-3-HYDROXYBUTYRIC ACIDEMIA;; BETA-KETOTHIOLASE DEFICIENCY;; MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY;; MAT DEFICIENCY;; T2 DEFICIENCY;; 3-OXOTHIOLASE DEFICIENCY;; 3-KETOTHIOLASE DEFICIENCY;; 3-KTD DEFICIENCY NULL 203760 ALPHA-2-DEFICIENT COLLAGEN DISEASE MEIGEL DISEASE Number Sign 203780 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE; ATS2 Number Sign 203800 ALSTROM SYNDROME; ALMS ALSS Number Sign 204000 LEBER CONGENITAL AMAUROSIS 1; LCA1 AMAUROSIS CONGENITA OF LEBER I;; LCA;; RETINAL BLINDNESS, CONGENITAL; CRB Number Sign 204100 LEBER CONGENITAL AMAUROSIS 2; LCA2 AMAUROSIS CONGENITA OF LEBER II NULL 204110 AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS Number Sign 204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE; JNCL;; BATTEN DISEASE;; VOGT-SPIELMEYER DISEASE;; SPIELMEYER-SJOGREN DISEASE Number Sign 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A Caret 204400 REMOVED FROM DATABASE Number Sign 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 CEROID LIPOFUSCINOSIS, NEURONAL, 2, VARIABLE AGE AT ONSET;; JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, INCLUDED; LINCL, INCLUDED Caret 204600 MOVED TO 204500 Number Sign 204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, AUTOSOMAL RECESSIVE;; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH OR WITHOUT OPEN-BITE MALOCCLUSION, AUTOSOMAL RECESSIVE Number Sign 204690 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G ENAMEL-RENAL SYNDROME; ERS;; ENAMEL-RENAL-GINGIVAL SYNDROME;; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS;; AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME; AIGFS Number Sign 204700 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1; AI2A1 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1 NULL 204730 AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS Number Sign 204750 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD Percent 204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF NULL 204850 AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION Number Sign 204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD CDGDL;; AMYLOIDOSIS, CORNEAL;; AMYLOID CORNEAL DYSTROPHY, JAPANESE TYPE;; CORNEAL DYSTROPHY, LATTICE TYPE III;; LATTICE CORNEAL DYSTROPHY, TYPE III NULL 204900 AMYLOIDOSIS, CUTANEOUS BULLOUS NULL 205000 AMYOTONIA CONGENITA OPPENHEIM DISEASE Number Sign 205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 ALS, JUVENILE; ALSJ Percent 205200 AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA ALS-DEMENTIA COMPLEX NULL 205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES Number Sign 205400 TANGIER DISEASE; TGD HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1; HDLDT1;; HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE;; ANALPHALIPOPROTEINEMIA Caret 205600 MOVED TO 105650 NULL 205700 ANEMIA, AUTOIMMUNE HEMOLYTIC Caret 205900 MOVED TO 105650 Number Sign 205950 ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY; SIDBA2 NULL 206000 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE ANEMIA, CONGENITAL SIDEROBLASTIC, B6-RESPONSIVE Number Sign 206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1; AHMIO1 Number Sign 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA ANEMIA, HYPOCHROMIC MICROCYTIC, WITH DEFECT IN IRON METABOLISM;; IRON-HANDLING DISORDER, HEREDITARY;; PSEUDO-IRON-DEFICIENCY ANEMIA NULL 206300 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE NULL 206400 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM Number Sign 206500 ANENCEPHALY; ANPH NULL 206550 ANGIOLIPOMATOSIS, FAMILIAL ANGIOLIPOMA MICROTHROMBOTICUM Percent 206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT DIVRY-VAN BOGAERT SYNDROME NULL 206600 ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS Number Sign 206700 GILLESPIE SYNDROME; GLSP ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION NULL 206750 ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION Percent 206780 ANODONTIA OF PERMANENT DENTITION TEETH, PERMANENT, ABSENCE OF Number Sign 206800 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4 ANONYCHIA/HYPONYCHIA CONGENITA;; ANONYCHIA TOTALIS Number Sign 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME;; ANOPHTHALMIA, CLINICAL, WITH ASSOCIATED ANOMALIES;; ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME;; AEG SYNDROME OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED Number Sign 206920 MICROPHTHALMIA WITH LIMB ANOMALIES; MLA WAARDENBURG ANOPHTHALMIA SYNDROME;; ANOPHTHALMIA-SYNDACTYLY;; OPHTHALMOACROMELIC SYNDROME; OAS NULL 207000 ANOSMIA FOR ISOBUTYRIC ACID NULL 207300 ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO Number Sign 207410 ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME;; MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES;; OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES NULL 207500 ANUS, IMPERFORATE NULL 207600 TAKAYASU ARTERITIS AORTIC ARCH SYNDROME;; YOUNG FEMALE ARTERITIS;; PULSELESS DISEASE NULL 207620 APHALANGY WITH HEMIVERTEBRAE Caret 207700 MOVED TO 107600 NULL 207720 APNEA, CENTRAL SLEEP SLEEP APNEA, LETHAL CENTRAL NULL 207731 APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA ACC WITH INTESTINAL LYMPHANGIECTASIA NULL 207740 APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY Number Sign 207750 APOLIPOPROTEIN C-II DEFICIENCY HYPERLIPOPROTEINEMIA, TYPE IB;; C-II ANAPOLIPOPROTEINEMIA;; APOC2 DEFICIENCY Caret 207765 MOVED TO 218030 NULL 207770 APROSENCEPHALY SYNDROME XK SYNDROME;; GARCIA-LURIE SYNDROME NULL 207780 AREDYLD ACRORENAL FIELD DEFECT, ECTODERMAL DYSPLASIA, AND LIPOATROPHIC DIABETES NULL 207790 ARACHNOID CYSTS, INTRACRANIAL Number Sign 207800 ARGININEMIA ARGINASE DEFICIENCY;; HYPERARGININEMIA;; ARG1 DEFICIENCY Number Sign 207900 ARGININOSUCCINIC ACIDURIA ARGININOSUCCINASE DEFICIENCY;; ARGININOSUCCINATE LYASE DEFICIENCY;; ASL DEFICIENCY;; ARGININOSUCCINIC ACID LYASE DEFICIENCY Percent 207950 CHIARI MALFORMATION TYPE II CM2;; ARNOLD-CHIARI MALFORMATION Number Sign 208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 GACI;; IDIOPATHIC INFANTILE ARTERIAL CALCIFICATION; IIAC;; ARTERIAL CALCIFICATION, IDIOPATHIC INFANTILE;; ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED Number Sign 208050 ARTERIAL TORTUOSITY SYNDROME; ATORS ATS;; ARTERIAL TORTUOSITY Percent 208060 ARTERIOSCLEROSIS, SEVERE JUVENILE NULL 208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES NULL 208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES Number Sign 208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1 ARC SYNDROME; ARCS Number Sign 208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN AMC, NEUROGENIC TYPE Caret 208110 MOVED TO 208155 Number Sign 208150 FETAL AKINESIA DEFORMATION SEQUENCE 1; FADS1 FETAL AKINESIA DEFORMATION SEQUENCE; FADS;; PENA-SHOKEIR SYNDROME, TYPE I;; FETAL AKINESIA SEQUENCE;; ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA NULL 208155 ILLUM SYNDROME ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION NULL 208158 ARTHROGRYPOSIS WITH HYPERKERATOSIS Caret 208200 MOVED TO 259450 Number Sign 208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD;; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; SEDT-PA;; PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPD Number Sign 208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP ARTHROPATHY-CAMPTODACTYLY SYNDROME;; HYPERTROPHIC SYNOVITIS, CONGENITAL FAMILIAL;; JACOBS SYNDROME;; FIBROSING SEROSITIS, FAMILIAL;; PERICARDITIS-ARTHROPATHY-CAMPTODACTYLY SYNDROME;; PAC SYNDROME;; CAMPTODACTYLY-ARTHROPATHY-PERICARDITIS SYNDROME;; CAP SYNDROME NULL 208300 ASCITES, CHYLOUS Number Sign 208400 ASPARTYLGLUCOSAMINURIA; AGU GLYCOSYLASPARAGINASE DEFICIENCY;; ASPARTYLGLUCOSAMINIDASE DEFICIENCY;; AGA DEFICIENCY;; GLYCOASPARAGINASE;; ASPARTYLGLYCOSAMINURIA Percent 208500 SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY; SRTD1 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1;; JEUNE SYNDROME;; THORACIC-PELVIC-PHALANGEAL DYSTROPHY Number Sign 208530 RIGHT ATRIAL ISOMERISM; RAI RIGHT ISOMERISM;; ASPLENIA WITH CARDIOVASCULAR ANOMALIES;; IVEMARK SYNDROME POLYSPLENIA SYNDROME, INCLUDED;; POLYASPLENIA, INCLUDED;; HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE, INCLUDED;; VAH, AUTOSOMAL RECESSIVE, INCLUDED Number Sign 208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 RHPD Number Sign 208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE ASA TRIAD ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO, INCLUDED;; ASTHMA AND NASAL POLYPS, INCLUDED NULL 208600 ASTHMA, SHORT STATURE, AND ELEVATED IgA NULL 208700 ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA Percent 208750 ATAXIA, DEAFNESS, AND CARDIOMYOPATHY Caret 208800 MOVED TO 312170 NULL 208850 ATAXIA-DEAFNESS-RETARDATION SYNDROME ADR SYNDROME NULL 208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME AMC SYNDROME Number Sign 208900 ATAXIA-TELANGIECTASIA; AT AT1;; LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;; AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;; AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;; AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;; ATAXIA-TELANGIECTASIA VARIANT, INCLUDED Caret 208905 MOVED TO 208900 NULL 208910 ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH Number Sign 208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH ATAXIA-OCULOMOTOR APRAXIA SYNDROME; AOA;; ATAXIA-OCULOMOTOR APRAXIA 1; AOA1;; ATAXIA-TELANGIECTASIA-LIKE SYNDROME;; CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA; EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED Caret 209000 MOVED TO 613179 NULL 209010 ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE NULL 209050 ATHROMBIA, ESSENTIAL Percent 209100 ATONIC-ASTATIC SYNDROME OF FOERSTER Number Sign 209300 ATRANSFERRINEMIA HYPOTRANSFERRINEMIA, FAMILIAL TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; TFQTL1, INCLUDED Caret 209400 MOVED TO 600309 Number Sign 209500 ATRICHIA WITH PAPULAR LESIONS; APL PAPULAR ATRICHIA NULL 209600 ATRIOVENTRICULAR DISSOCIATION A-V DISSOCIATION Percent 209700 ATROPHODERMA VERMICULATA; AVA FOLLICULITIS ULERYTHEMATOSA RETICULATA;; ATROPHODERMIA VERMICULATA;; HONEYCOMB ATROPHY;; ATROPHODERMIA RETICULATA SYMMETRICA FACIEI Caret 209750 MOVED TO 209950 NULL 209770 AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION NULL 209800 AUSTRALIA ANTIGEN Percent 209850 AUTISM AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1, INCLUDED; AUTS1, INCLUDED;; AUTISM SPECTRUM DISORDER, INCLUDED; ASD, INCLUDED Number Sign 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS AUTONOMIC CONTROL, CONGENITAL FAILURE OF;; ONDINE CURSE, CONGENITAL ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;; CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;; HADDAD SYNDROME, INCLUDED Number Sign 209885 BARBER-SAY SYNDROME; BBRSAY BSS;; HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA Number Sign 209900 BARDET-BIEDL SYNDROME 1; BBS1 Asterisk 209901 BBS1 GENE; BBS1 Number Sign 209920 BARE LYMPHOCYTE SYNDROME, TYPE II BLS, TYPE II;; BARE LYMPHOCYTE SYNDROME; BLS;; SEVERE COMBINED IMMUNODEFICIENCY, HLA CLASS II-NEGATIVE;; SCID, HLA CLASS II-NEGATIVE BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D, INCLUDED;; BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E, INCLUDED Caret 209930 MOVED TO 241200 Number Sign 209950 IMMUNODEFICIENCY 27A; IMD27A IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;; IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE NULL 209970 BEEMER LETHAL MALFORMATION SYNDROME HYDROCEPHALUS, CARDIAC MALFORMATION, DENSE BONES, ETC. Number Sign 210000 BEHR SYNDROME; BEHRS OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES NULL 210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION CEREBRAL ANEURYSM-CIRRHOSIS SYNDROME Number Sign 210100 BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF;; BAIB URINARY EXCRETION;; HYPER-BETA-AMINOISOBUTYRIC ACIDURIA Number Sign 210200 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D MCCD TYPE 1;; MCC1 DEFICIENCY;; 3-METHYLCROTONYLGLYCINURIA I;; METHYLCROTONYLGLYCINURIA TYPE I Number Sign 210210 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D MCC2 DEFICIENCY;; 3-METHYLCROTONYLGLYCINURIA II;; METHYLCROTONYLGLYCINURIA, TYPE II Number Sign 210250 SITOSTEROLEMIA STSL;; PHYTOSTEROLEMIA MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN, INCLUDED Caret 210300 MOVED TO 201300 NULL 210350 BIEMOND SYNDROME II Number Sign 210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD BIETTI CRYSTALLINE DYSTROPHY;; BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL CORNEAL DYSTROPHY NULL 210400 BIFID NOSE, AUTOSOMAL RECESSIVE MEDIAN FISSURE OF NOSE;; NOSE, MEDIAN CLEFT OF Caret 210450 MOVED TO 607765 Percent 210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA NULL 210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY CHOLESTATIC JAUNDICE AND RENAL TUBULAR INSUFFICIENCY Number Sign 210600 SECKEL SYNDROME 1; SCKL1 SCKL;; SECKEL-TYPE DWARFISM;; NANOCEPHALIC DWARFISM;; MICROCEPHALIC PRIMORDIAL DWARFISM I;; BIRD-HEADED DWARFISM NULL 210700 MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE BIRD-HEADED DWARFISM, MONTREAL TYPE Number Sign 210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1 MOPD I; MOPD;; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I;; BRACHYMELIC PRIMORDIAL DWARFISM;; TAYBI-LINDER SYNDROME; TALS;; CEPHALOSKELETAL DYSPLASIA;; LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA Number Sign 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2 MOPD II;; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II Percent 210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III MOPD III; MOPD3;; OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III;; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, CAROLINE CRACHAMI TYPE;; MOPD, CAROLINE CRACHAMI TYPE;; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE;; MOPD, SICILIAN FAIRY TYPE NULL 210740 BANGSTAD SYNDROME BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY Percent 210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE Number Sign 210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6 SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR;; SKIN/HAIR/EYE PIGMENTATION 6, BLUE/GREEN EYES Number Sign 210900 BLOOM SYNDROME; BLM BS; BLS;; MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1; MGRISCE1 NULL 211000 BLUE DIAPER SYNDROME HYPERCALCEMIA, FAMILIAL, WITH NEPHROCALCINOSIS AND INDICANURIA Asterisk 211100 FUCOSYLTRANSFERASE 1; FUT1 H ANTIGEN;; Hh NULL 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE Caret 211170 MOVED TO 249420 Number Sign 211180 BOWEN-CONRADI SYNDROME; BWCNS BOWEN HUTTERITE SYNDROME, FORMERLY NULL 211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS Percent 211350 KYPHOMELIC DYSPLASIA BOWING, CONGENITAL, WITH SHORT BONES NULL 211355 BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC NULL 211369 BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY NULL 211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM ANODONTIA-HYPOTRICHOSIS SYNDROME;; OCULOOSTEOCUTANEOUS SYNDROME Number Sign 211380 ELSAHY-WATERS SYNDROME; ESWS BRACHIOSKELETOGENITAL SYNDROME;; BSG SYNDROME;; HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS Percent 211390 SABINAS BRITTLE HAIR SYNDROME BRITTLE HAIR AND MENTAL DEFICIT Number Sign 211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 CYSTIC FIBROSIS-LIKE SYNDROME Caret 211410 MOVED TO 114450 Caret 211420 REMOVED FROM DATABASE NULL 211450 BRONCHOMALACIA WILLIAMS-CAMPBELL SYNDROME NULL 211480 BUERGER DISEASE THROMBOANGIITIS OBLITERANS Number Sign 211500 FAZIO-LONDE DISEASE BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD Number Sign 211530 BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS;; PONTOBULBAR PALSY WITH DEAFNESS Caret 211550 MOVED TO 113900 Number Sign 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 BYLER DISEASE Number Sign 211750 C SYNDROME OPITZ TRIGONOCEPHALY SYNDROME;; TRIGONOCEPHALY SYNDROME NULL 211770 CAHMR SYNDROME CATARACT, HYPERTRICHOSIS, MENTAL RETARDATION SYNDROME Number Sign 211800 CALCIFICATION OF JOINTS AND ARTERIES; CALJA ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73; ACDC Percent 211890 CAMPOMELIA, CUMMING TYPE CERVICAL LYMPHOCELE WITH BOWED LONG BONES;; CUMMING SYNDROME Number Sign 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC;; CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA;; TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC; PHPTC;; LIPOCALCINOGRANULOMATOSIS;; TEUTSCHLAENDER DISEASE, FAMILIAL;; MORBUS TEUTSCHLAENDER;; HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS;; HYPEROSTOSIS WITH HYPERPHOSPHATEMIA;; CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA NULL 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1 FACIOTHORACOSKELETAL SYNDROME; FTSS NULL 211920 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II NULL 211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA Percent 211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES TEL HASHOMER CAMPTODACTYLY SYNDROME NULL 211965 CAMPTODACTYLY-ICHTHYOSIS SYNDROME Caret 211970 MOVED TO 114290 Number Sign 211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED;; ADENOCARCINOMA OF LUNG, INCLUDED;; NONSMALL CELL LUNG CANCER, INCLUDED;; LUNG CANCER, PROTECTION AGAINST, INCLUDED NULL 211990 CAMPTOMELIC SYNDROME, LONG-LIMB TYPE CAMPOMELIC SYNDROME, LONG-LIMB TYPE Number Sign 212050 CANDIDIASIS, FAMILIAL, 2; CANDF2 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE;; CARD9 IMMUNODEFICIENCY NULL 212060 CARBIMAZOLE SENSITIVITY Number Sign 212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A CDG Ia; CDGIa;; JAEKEN SYNDROME;; PHOSPHOMANNOMUTASE 2 DEFICIENCY;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY Number Sign 212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A CDG IIa; CDGIIa;; ALKURAYA SYNDROME;; MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY NULL 212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx CDG-x Number Sign 212070 CARBOXYPEPTIDASE N DEFICIENCY NULL 212080 CARDIAC LIPIDOSIS, FAMILIAL NULL 212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA Number Sign 212093 CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD NULL 212100 CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS Caret 212110 MOVED TO 611880 Number Sign 212112 CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM MALOUF SYNDROME;; CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM;; CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE;; CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE;; NAJJAR SYNDROME;; GENITAL ANOMALY WITH CARDIOMYOPATHY;; CARDIOGENITAL SYNDROME Caret 212120 MOVED TO 212112 Percent 212130 CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH NULL 212135 CARDIOSKELETAL SYNDROME, KUWAITI TYPE Number Sign 212138 CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD CACT DEFICIENCY Number Sign 212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP SYSTEMIC CARNITINE DEFICIENCY; SCD;; CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE;; CARNITINE DEFICIENCY, PRIMARY;; CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF;; CARNITINE UPTAKE DEFECT; CUD Percent 212160 CARNITINE DEFICIENCY, MYOPATHIC Percent 212200 CARNOSINEMIA CARNOSINASE DEFICIENCY Number Sign 212350 SENGERS SYNDROME MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE); MTDPS10;; CARDIOMYOPATHY AND CATARACT NULL 212360 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2; PPKCA2 PPKCA, WALLIS TYPE;; CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS Percent 212400 CATARACT AND CONGENITAL ICHTHYOSIS Number Sign 212500 CATARACT 46, JUVENILE-ONSET; CTRCT46 CATARACT, JUVENILE, HUTTERITE TYPE NULL 212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME CAMFAK SYNDROME CATARACT, MICROCEPHALY, ARTHROGRYPOSIS, KYPHOSIS SYNDROME, INCLUDED;; CAMAK SYNDROME, INCLUDED Number Sign 212550 OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY; ODRMD Caret 212600 REMOVED FROM DATABASE Caret 212700 REMOVED FROM DATABASE NULL 212710 CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME POLYNEUROPATHY-CATARACT-DEAFNESS SYNDROME Number Sign 212720 MARTSOLF SYNDROME CATARACT-MENTAL RETARDATION-HYPOGONADISM Number Sign 212750 CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 CELIAC SPRUE, SUSCEPTIBILITY TO, 1;; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1 Number Sign 212780 CENANI-LENZ SYNDACTYLY SYNDROME; CLSS CENANI SYNDACTYLISM;; CENANI-LENZ SYNDACTYLY;; SYNDACTYLY, TYPE VII Percent 212790 PREMATURE CENTROMERE DIVISION; PCD X-CHROMOSOME CENTROMERE PECULIARITY NULL 212800 CEPHALIN LIPIDOSIS NULL 212835 CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA Number Sign 212840 GORDON HOLMES SYNDROME; GDHS CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM; CAHH;; LUTEINIZING HORMONE-RELEASING HORMONE, DEFICIENCY OF, WITH ATAXIA;; LHRH DEFICIENCY AND ATAXIA NULL 212850 CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS NULL 212890 CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA CEREBELLAR ATAXIA WITH LOSS OF PAIN AND TEMPERATURE SENSATION Percent 212895 CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA Caret 212900 MOVED TO 258450 Caret 212905 MOVED TO 606854 Percent 213000 CEREBELLAR HYPOPLASIA NULL 213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS NULL 213010 CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME Percent 213100 CEREBELLOPARENCHYMAL DISORDER II; CPD2 CPD, LATE-ONSET RECESSIVE TYPE Number Sign 213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE;; CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL;; CEREBELLOPARENCHYMAL DISORDER III; CPD3;; CPD III Number Sign 213300 JOUBERT SYNDROME 1; JBTS1 JOUBERT SYNDROME; JBTS;; JOUBERT-BOLTSHAUSER SYNDROME;; CEREBELLOPARENCHYMAL DISORDER IV; CPD4;; CEREBELLOOCULORENAL SYNDROME 1; CORS1 NULL 213400 CEREBELLOPARENCHYMAL DISORDER V; CPD5 SPINODENTATE ATROPHY;; DYSSYNERGIA CEREBELLARIS MYOCLONICA OF HUNT NULL 213500 CEREBRAL ANGIOPATHY, DYSPHORIC Number Sign 213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 STRIOPALLIDODENTATE CALCINOSIS, BILATERAL; BSPDC;; STRIOPALLIDODENTATE CALCINOSIS, AUTOSOMAL DOMINANT, ADULT-ONSET;; CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, ADULT-ONSET;; FERROCALCINOSIS, CEREBROVASCULAR;; FAHR DISEASE, FAMILIAL, FORMERLY;; BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3, FORMERLY; IBGC3, FORMERLY Number Sign 213700 CEREBROTENDINOUS XANTHOMATOSIS; CTX CEREBRAL CHOLESTERINOSIS NULL 213820 CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS NULL 213900 CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE NULL 213950 CEREBROCORTICAL DEGENERATION OF INFANCY Number Sign 213980 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR CEREBROFACIOTHORACIC DYSPLASIA Number Sign 214100 PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A ZS; ZWS;; CEREBROHEPATORENAL SYNDROME; CHR PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED; CG1, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP E, INCLUDED; CGE, INCLUDED Number Sign 214110 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2, INCLUDED; CG2, INCLUDED Number Sign 214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 COFS SYNDROME; COFS;; PENA-SHOKEIR SYNDROME, TYPE II NULL 214200 CEROID STORAGE DISEASE LIPOFUSCIN STORAGE DISEASE NULL 214290 CERVICAL VERTEBRAE, AGENESIS OF Number Sign 214300 KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE; KFS2 KFS, AUTOSOMAL RECESSIVE;; CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE Number Sign 214350 CHAND SYNDROME; CHANDS CURLY HAIR-ANKYLOBLEPHARON-NAIL DYSPLASIA SYNDROME Percent 214370 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS;; DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE Caret 214380 MOVED TO 606002 Number Sign 214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4A;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4A Number Sign 214450 GRISCELLI SYNDROME, TYPE 1; GS1 GRISCELLI SYNDROME WITH NEUROLOGIC IMPAIRMENT;; PARTIAL ALBINISM AND PRIMARY NEUROLOGIC DISEASE WITHOUT HEMOPHAGOCYTIC SYNDROME;; GRISCELLI SYNDROME, CUTANEOUS AND NEUROLOGIC TYPE Number Sign 214500 CHEDIAK-HIGASHI SYNDROME; CHS Number Sign 214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1 CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE;; CHLORIDORRHEA, CONGENITAL Number Sign 214800 CHARGE SYNDROME CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES;; HALL-HITTNER SYNDROME; HHS Percent 214900 CHOLESTASIS-LYMPHEDEMA SYNDROME CHLS;; AAGENAES SYNDROME;; LYMPHEDEMA-CHOLESTASIS SYNDROME; LCS; LCS1 Number Sign 214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID;; TRIHYDROXYCOPROSTANIC ACID IN BILE NULL 214980 CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE NULL 215030 CHOLESTEROL PNEUMONIA Number Sign 215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD NULL 215050 CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS Number Sign 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 PEROXISOME BIOGENESIS DISORDER 9; PBD9;; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM; CDPR;; CHONDRODYSTROPHIA CALCIFICANS PUNCTATA NULL 215105 CHONDRODYSPLASIA PUNCTATA SYNDROME Number Sign 215140 GREENBERG DYSPLASIA; GRBGD HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA;; HEM SKELETAL DYSPLASIA;; MOTH-EATEN SKELETAL DYSPLASIA;; CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE Number Sign 215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; OSMEDB OSMED;; CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS;; NANCE-INSLEY SYNDROME;; NANCE-SWEENEY CHONDRODYSPLASIA;; WEISSENBACHER-ZWEYMULLER SYNDROME, FORMERLY; WZS, FORMERLY NULL 215250 CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME Number Sign 215300 CHONDROSARCOMA Number Sign 215400 CHORDOMA, SUSCEPTIBILITY TO; CHDM NULL 215450 CHOREA, BENIGN FAMILIAL Number Sign 215470 BOUCHER-NEUHAUSER SYNDROME; BNHS SPINOCEREBELLAR ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, AND CHORIORETINAL DYSTROPHY NULL 215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION Number Sign 215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD;; CHOROIDAL SCLEROSIS NULL 215510 CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY NULL 215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION RUTLAND CILIARY DISORIENTATION SYNDROME Percent 215520 CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES NULL 215550 CIRCUMVALLATE PLACENTA SYNDROME Number Sign 215600 CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED;; INDIAN CHILDHOOD CIRRHOSIS, INCLUDED; ICC, INCLUDED;; SEN SYNDROME, INCLUDED;; COPPER-OVERLOAD CIRRHOSIS, INCLUDED;; ENDEMIC TYROLEAN INFANTILE CIRRHOSIS, INCLUDED; ETIC, INCLUDED;; COPPER TOXICOSIS, IDIOPATHIC, INCLUDED; ICT, INCLUDED;; CIRRHOSIS, CRYPTOGENIC, INCLUDED;; CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED Number Sign 215700 CITRULLINEMIA, CLASSIC CITRULLINEMIA, TYPE I; CTLN1;; CITRULLINURIA;; ARGININOSUCCINATE SYNTHETASE DEFICIENCY;; ASS DEFICIENCY NULL 215720 CITRULLINE TRANSPORT DEFECT NULL 215800 CLEFT LARYNX, POSTERIOR STRIDOR, CONGENITAL, INCLUDED NULL 215850 CLEFT-LIMB-HEART MALFORMATION SYNDROME CLH SYNDROME NULL 216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY OROCRANIODIGITAL SYNDROME;; JUBERG-HAYWARD SYNDROME; JHS NULL 216300 CLEFT PALATE, DEAFNESS, AND OLIGODONTIA NULL 216330 CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM Number Sign 216340 YUNIS-VARON SYNDROME; YVS CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA Number Sign 216360 COACH SYNDROME CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS;; JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS Number Sign 216400 COCKAYNE SYNDROME A; CSA Caret 216411 MOVED TO 216400 Number Sign 216550 COHEN SYNDROME; COH1 COH;; HYPOTONIA, OBESITY, AND PROMINENT INCISORS;; PEPPER SYNDROME;; CHS1, FORMERLY Percent 216700 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING; RPC NULL 216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES Number Sign 216820 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE Number Sign 216900 ACHROMATOPSIA 2; ACHM2 COLORBLINDNESS, TOTAL;; ROD MONOCHROMATISM 2;; ROD MONOCHROMACY 2; RMCH2 NULL 216920 COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT Percent 216950 COMPLEMENT COMPONENT C1r/C1s DEFICIENCY C1r/C1s DEFICIENCY Number Sign 217000 COMPLEMENT COMPONENT 2 DEFICIENCY; C2D C2 DEFICIENCY Asterisk 217030 COMPLEMENT FACTOR I; CFI COMPLEMENT COMPONENT I;; FACTOR I; FI;; C3b INACTIVATOR Asterisk 217050 COMPLEMENT COMPONENT 6; C6 Asterisk 217070 COMPLEMENT COMPONENT 7; C7 Number Sign 217080 JALILI SYNDROME CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA Number Sign 217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY; CHDTHP Number Sign 217090 PLASMINOGEN DEFICIENCY, TYPE I LIGNEOUS CONJUNCTIVITIS, INCLUDED;; DYSPLASMINOGENEMIA, INCLUDED;; PLASMINOGEN DEFICIENCY, TYPE II, INCLUDED Number Sign 217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED;; CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED; CAFS, INCLUDED;; DOUBLE-OUTLET RIGHT VENTRICLE, INCLUDED; DORV, INCLUDED;; PERSISTENT TRUNCUS ARTERIOSUS, INCLUDED; PTA, INCLUDED;; INTERRUPTED AORTIC ARCH, INCLUDED Percent 217100 CONSTRICTING BANDS, CONGENITAL AMNIOTIC BAND SEQUENCE; ABS;; STREETER ANOMALY ADAM COMPLEX, INCLUDED;; TERMINAL TRANSVERSE DEFECTS OF ARM, INCLUDED;; AMPUTATION, CONGENITAL, INCLUDED NULL 217150 CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA NULL 217200 CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET Number Sign 217300 CORNEA PLANA 2, AUTOSOMAL RECESSIVE; CNA2 Number Sign 217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD CDPD1;; CORNEAL DYSTROPHY AND SENSORINEURAL DEAFNESS;; HARBOYAN SYNDROME Percent 217500 CORNEAL DYSTROPHY, BAND-SHAPED BAND KERATOPATHY NULL 217520 CORNEAL DEGENERATION, BAND-SHAPED SPHEROID NULL 217600 CENTRAL CLOUDY DYSTROPHY OF FRANCOIS; CCDF CORNEAL DYSTROPHY, CENTRAL TYPE Number Sign 217700 CORNEAL ENDOTHELIAL DYSTROPHY; CHED CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL;; CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA;; CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE, FORMERLY; CHED2, FORMERLY Number Sign 217800 MACULAR DYSTROPHY, CORNEAL; MCD CORNEAL DYSTROPHY, MACULAR TYPE;; GROENOUW TYPE II CORNEAL DYSTROPHY;; MACULAR CORNEAL DYSTROPHY, TYPE I;; MCDC1, FORMERLY MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED Percent 217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE TORIELLO-CAREY SYNDROME Percent 217990 CORPUS CALLOSUM, AGENESIS OF ACC Number Sign 218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN CHARLEVOIX DISEASE;; ANDERMANN SYNDROME;; POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM;; CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY NULL 218010 CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY Number Sign 218030 APPARENT MINERALOCORTICOID EXCESS; AME AME1;; CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY Number Sign 218040 COSTELLO SYNDROME; CSTLO FACIOCUTANEOSKELETAL SYNDROME;; FCS SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS, INCLUDED NULL 218050 CRAMPS, FAMILIAL ADOLESCENT NULL 218090 CRANE-HEISE SYNDROME CLEFT LIP/PALATE, AGENESIS OF CLAVICLES AND CERVICAL VERTEBRAE, AND TALIPES EQUINOVARUS Percent 218100 CRANIAL NERVES, CONGENITAL PARESIS OF NULL 218200 CRANIAL NERVES, RECURRENT PARESIS OF NULL 218300 CRANIODIAPHYSEAL DYSPLASIA; CDD Number Sign 218330 CRANIOECTODERMAL DYSPLASIA 1; CED1 SENSENBRENNER SYNDROME;; LEVIN SYNDROME I Number Sign 218340 TEMTAMY SYNDROME; TEMTYS MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM NULL 218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS; BLSS Number Sign 218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR NULL 218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS PFEIFFER CARDIOCRANIAL SYNDROME Caret 218455 MOVED TO 251200 Caret 218500 MOVED TO 123100 AND 123150 NULL 218530 CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS NULL 218550 CRANIOSYNOSTOSIS WITH FIBULAR APLASIA Number Sign 218600 BALLER-GEROLD SYNDROME; BGS CRANIOSYNOSTOSIS WITH RADIAL DEFECTS;; CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME NULL 218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG NULL 218650 CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME NULL 218670 CRANIOTELENCEPHALIC DYSPLASIA Number Sign 218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 THYROID DYSGENESIS;; THYROID AGENESIS;; THYROID HYPOPLASIA;; THYROID, ECTOPIC;; HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS;; HYPOTHYROIDISM, ATHYREOTIC;; ATHYREOTIC HYPOTHYROIDISM;; RESISTANCE TO THYROTROPIN; RTSH;; THYROTROPIN RESISTANCE Number Sign 218800 CRIGLER-NAJJAR SYNDROME, TYPE I HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I; HBLRCN1;; CRIGLER-NAJJAR SYNDROME Percent 218900 CROME SYNDROME Number Sign 219000 FRASER SYNDROME 1; FRASRS1 FRASER SYNDROME;; CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS;; CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME Number Sign 219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL UNDESCENDED TESTIS NULL 219070 CURVED NAIL OF FOURTH TOE CLAW-LIKE FINGERS AND TOES Number Sign 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA;; ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA;; CORTICOTROPIN-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA;; CUSHING SYNDROME, ADRENAL, DUE TO AIMAH Number Sign 219090 PITUITARY ADENOMA 4, ACTH-SECRETING; PITA4 CUSHING DISEASE, PITUITARY NULL 219095 CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL Number Sign 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A ARCL1;; CUTIS LAXA, AUTOSOMAL RECESSIVE Number Sign 219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A DE BARSY SYNDROME A;; CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION;; PROGEROID SYNDROME OF DE BARSY Number Sign 219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A ARCL2;; CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION;; CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY;; CUTIS LAXA, DEBRE TYPE;; CUTIS LAXA WITH BONE DYSTROPHY;; CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT NULL 219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC NULL 219300 CUTIS VERTICIS GYRATA AND MENTAL RETARDATION; CVG/MR NULL 219400 CYANOSIS AND HEPATIC DISEASE Number Sign 219500 CYSTATHIONINURIA CYSTATHIONASE DEFICIENCY NULL 219550 CYSTEINE PEPTIDURIA NULL 219600 CYSTIC DISEASE OF LUNG Number Sign 219700 CYSTIC FIBROSIS; CF MUCOVISCIDOSIS NULL 219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND MENTAL RETARDATION Number Sign 219730 VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE; VMCKD Number Sign 219750 CYSTINOSIS, ADULT NONNEPHROPATHIC CYSTINOSIS, OCULAR NONNEPHROPATHIC;; CYSTINOSIS, BENIGN NONNEPHROPATHIC Number Sign 219800 CYSTINOSIS, NEPHROPATHIC; CTNS LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF;; CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED;; CYSTINOSIS, ATYPICAL NEPHROPATHIC, INCLUDED Number Sign 219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CYSTINOSIS, INTERMEDIATE Number Sign 220100 CYSTINURIA CSNU;; CYSTINURIA, TYPE I, FORMERLY; CSNU1, FORMERLY;; CYSTINURIA, TYPE II, FORMERLY;; CYSTINURIA, TYPE III, FORMERLY; CSNU3, FORMERLY;; CYSTINURIA, TYPE NON-I, FORMERLY CYSTINURIA, TYPE A, INCLUDED;; CYSTINURIA, TYPE B, INCLUDED;; CYSTINURIA, TYPE A/B, INCLUDED Number Sign 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY CYTOCHROME c OXIDASE DEFICIENCY;; COX DEFICIENCY Number Sign 220111 LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC CYTOCHROME c OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE;; COX DEFICIENCY, FRENCH CANADIAN TYPE;; COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE;; LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE Number Sign 220120 D-GLYCERIC ACIDURIA D-GLYCERIC ACIDEMIA;; GLYCERATE KINASE DEFICIENCY Number Sign 220150 HYPOURICEMIA, RENAL, 1; RHUC1 DALMATIAN HYPOURICEMIA;; RENAL HYPOURICEMIA Percent 220200 DANDY-WALKER SYNDROME; DWS DANDY-WALKER MALFORMATION, INCLUDED; DWM, INCLUDED Number Sign 220210 RITSCHER-SCHINZEL SYNDROME 1; RTSC1 CRANIOCEREBELLOCARDIAC DYSPLASIA;; 3C SYNDROME;; DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT NULL 220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY NULL 220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY DWM WITH POSTAXIAL POLYDACTYLY;; PIERQUIN SYNDROME Number Sign 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A DEAFNESS, DIGENIC, GJB2/GJB6, INCLUDED;; DEAFNESS, DIGENIC, GJB2/GJB3, INCLUDED NULL 220300 DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY Number Sign 220400 JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 DEAFNESS, CONGENITAL, AND FUNCTIONAL HEART DISEASE;; PROLONGED QT INTERVAL IN EKG AND SUDDEN DEATH;; CARDIOAUDITORY SYNDROME OF JERVELL AND LANGE-NIELSEN;; SURDO-CARDIAC SYNDROME Number Sign 220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS DOOR SYNDROME;; DIGITORENOCEREBRAL SYNDROME;; DRC SYNDROME;; BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES;; ERONEN SYNDROME Number Sign 220600 SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE; SHFM1D DEAFNESS, CONGENITAL, WITH SPLIT HANDS AND FEET Caret 220700 MOVED TO 220290 Caret 220800 MOVED TO 220700 NULL 220900 DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM Caret 221000 REMOVED FROM DATABASE Number Sign 221200 DEAFNESS AND MYOPIA; DFNMYP Percent 221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR NULL 221320 DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES Percent 221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA NULL 221400 DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY GROLL-HIRSCHOWITZ SYNDROME NULL 221500 DEAFNESS, NEURAL, CONGENITAL MODERATE Caret 221600 MOVED TO 220290 Caret 221650 MOVED TO 220290 NULL 221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS NULL 221740 DEAFNESS-OLIGODONTIA SYNDROME NULL 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE Number Sign 221750 PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE;; DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM NULL 221760 DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF Number Sign 221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1; PLOSL1 PLOSL;; NASU-HAKOLA DISEASE; NHD;; PRESENILE DEMENTIA WITH BONE CYSTS;; DEMENTIA, PREFRONTAL, WITH BONE CYSTS;; DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA;; BRAIN-BONE-FAT DISEASE NULL 221780 DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH NULL 221790 DERMATOLEUKODYSTROPHY Percent 221800 DERMOCHONDROCORNEAL DYSTROPHY FRANCOIS SYNDROME NULL 221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE KIRGHIZIAN DERMATOOSTEOLYSIS Number Sign 221820 LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS; HDLS LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA; ALSP;; LEUKOENCEPHALOPATHY WITH NEUROAXONAL SPHEROIDS, AUTOSOMAL DOMINANT;; GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL; GPSC;; DEMENTIA, FAMILIAL, NEUMANN TYPE;; SUBCORTICAL GLIOSIS OF NEUMANN Number Sign 221900 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE; PHPVAR RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC; NCRNA;; RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT;; PERSISTENT FETAL VASCULATURE NULL 221950 DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA NULL 221995 DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION Caret 222000 MOVED TO 125800 Percent 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM DIABETES MELLITUS, TYPE I;; JUVENILE-ONSET DIABETES; JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED; IDDM1, INCLUDED;; INSULIN-DEPENDENT DIABETES MELLITUS 1, INCLUDED Number Sign 222300 WOLFRAM SYNDROME 1; WFS1 WFS;; DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS; DIDMOAD NULL 222350 DIAMINOPENTANURIA CYSTINE-LYSINURIA Percent 222400 DIAPHRAGMATIC HERNIA 2; DIH2 Number Sign 222448 DONNAI-BARROW SYNDROME FACIOOCULOACOUSTICORENAL SYNDROME;; DBS/FOAR SYNDROME;; DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA Number Sign 222470 TRICHOHEPATOENTERIC SYNDROME 1; THES1 THE SYNDROME;; DIARRHEA, SYNDROMIC;; DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA NULL 222500 DIASTEMATOMYELIA Number Sign 222600 DIASTROPHIC DYSPLASIA; DTD DD DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED Percent 222690 DIBASIC AMINO ACIDURIA I Number Sign 222700 LYSINURIC PROTEIN INTOLERANCE; LPI DIBASIC AMINO ACIDURIA II Number Sign 222730 DICARBOXYLIC AMINOACIDURIA; DCBXA GLUTAMATE-ASPARTATE TRANSPORT DEFECT Asterisk 222745 2,4-DIENOYL-CoA REDUCTASE 1, MITOCHONDRIAL; DECR1 Number Sign 222748 DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD DIHYDROPYRIMIDINURIA;; DPYS DEFICIENCY;; DPH DEFICIENCY Caret 222760 MOVED TO 220500 Number Sign 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY;; DHAPAT DEFICIENCY;; GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY;; GNPAT DEFICIENCY;; PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY;; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY Number Sign 222800 ERYTHROCYTOSIS, FAMILIAL, 8; ECYT8 BISPHOSPHOGLYCERATE MUTASE DEFICIENCY;; BISPHOSPHOGLYCEROMUTASE DEFICIENCY;; BPGM DEFICIENCY;; DIPHOSPHOGLYCERATE MUTASE DEFICIENCY OF ERYTHROCYTE;; DPGM DEFICIENCY Number Sign 222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID DISACCHARIDE INTOLERANCE I;; SUCROSE-ISOMALTOSE MALABSORPTION, CONGENITAL;; SUCROSE INTOLERANCE, CONGENITAL;; SI DEFICIENCY Number Sign 223000 LACTASE DEFICIENCY, CONGENITAL ALACTASIA, CONGENITAL;; DISACCHARIDE INTOLERANCE II Number Sign 223100 LACTOSE INTOLERANCE, ADULT TYPE HYPOLACTASIA, ADULT TYPE;; ADULT LACTASE DEFICIENCY;; DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE, INCLUDED Percent 223200 DISORGANIZATION, MOUSE, HOMOLOG OF DS NULL 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY NULL 223320 DIVERTICULOSIS, SMALL-INTESTINAL NULL 223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT NULL 223340 DK PHOCOMELIA SYNDROME PHOCOMELIA, THROMBOCYTOPENIA, ENCEPHALOCELE, UROGENITAL MALFORMATIONS;; VON VOSS-CHERSTVOY SYNDROME NULL 223350 DOHLE BODIES AND LEUKEMIA Number Sign 223360 ORTHOSTATIC HYPOTENSION 1; ORTHYP1 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL;; NOREPINEPHRINE DEFICIENCY;; NORADRENALINE DEFICIENCY Percent 223370 DUBOWITZ SYNDROME NULL 223380 DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF NULL 223400 DUODENAL ATRESIA NULL 223500 DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE NULL 223540 DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY MOLLICA SYNDROME NULL 223550 DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION Caret 223600 MOVED TO 127100 Caret 223610 MOVED TO 228900 Number Sign 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC Number Sign 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 HSAN III;; DYSAUTONOMIA, FAMILIAL; DYS; FD;; RILEY-DAY SYNDROME NULL 224000 DYSAUTONOMIA-LIKE DISORDER Number Sign 224050 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED;; CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1;; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE;; DYSEQUILIBRIUM SYNDROME; DES Number Sign 224100 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II; CDAN2 DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II;; CDA II;; DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE;; HEREDITARY ERYTHROBLASTIC MULTINUCLEARITY WITH POSITIVE ACIDIFIED-SERUM TEST; HEMPAS Number Sign 224120 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia;; CDA Ia;; ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I Caret 224200 MOVED TO 229200 Number Sign 224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 NULL 224250 DYSMYELINATION WITH JAUNDICE Percent 224300 DYSOSTEOSCLEROSIS Percent 224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE; DDRD DYSSEGMENTAL DWARFISM, ROLLAND-DESBUQUOIS TYPE;; ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE Number Sign 224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH DYSSEGMENTAL DWARFISM, SILVERMAN-HANDMAKER TYPE;; ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE Number Sign 224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2 DYSTONIA MUSCULORUM DEFORMANS 2 NULL 224550 DYSTONIA WITH RINGBINDEN Caret 224570 MOVED TO 500001 Caret 224600 MOVED TO 128200 Number Sign 224690 MEIER-GORLIN SYNDROME 1; MGORS1 EAR, PATELLA, SHORT STATURE SYNDROME; EPS;; MICROTIA, ABSENT PATELLAE, MICROGNATHIA SYNDROME;; MEIER-GORLIN SYNDROME NULL 224700 EBSTEIN ANOMALY Number Sign 224750 SCHOPF-SCHULZ-PASSARGE SYNDROME; SSPS KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS;; ECCRINE TUMORS WITH ECTODERMAL DYSPLASIA NULL 224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS Number Sign 224900 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;; ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA Percent 225000 ROSSELLI-GULIENETTI SYNDROME NULL 225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM NULL 225050 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA HEDH SYNDROME Number Sign 225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 ZLOTOGORA-OGUR SYNDROME;; ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE;; ECTODERMAL DYSPLASIA, TYPE 4; ED4;; ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED;; CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7, INCLUDED Number Sign 225100 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2 Number Sign 225200 ECTOPIA LENTIS ET PUPILLAE ECTOPIA LENTIS WITH ECTOPIA OF PUPIL Number Sign 225250 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5 Number Sign 225280 ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS EEM SYNDROME NULL 225290 ECTRODACTYLY-POLYDACTYLY Number Sign 225300 SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 ECTRODACTYLY, AUTOSOMAL RECESSIVE NULL 225310 EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY FN ABNORMALITY;; EHLERS-DANLOS SYNDROME, TYPE X;; EDS X; EDS10;; EHLERS-DANLOS SYNDROME, DYSFIBRONECTINEMIC TYPE Number Sign 225320 EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE; EDSCV Caret 225350 MOVED TO 130050 Caret 225360 REMOVED FROM DATABASE Number Sign 225400 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1 EHLERS-DANLOS SYNDROME, TYPE VI; EDS6;; EDS VI;; EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE;; NEVO SYNDROME;; EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY; EDS6A, FORMERLY Number Sign 225410 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE; EDSDERMS DERMATOSPARAXIS;; EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE;; EDS VIIC;; EDS7C Caret 225450 MOVED TO 182860 Number Sign 225500 ELLIS-VAN CREVELD SYNDROME; EVC CHONDROECTODERMAL DYSPLASIA;; MESOECTODERMAL DYSPLASIA NULL 225700 ENCEPHALOMALACIA, MULTILOCULAR NULL 225740 ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS LYON SYNDROME Number Sign 225750 AICARDI-GOUTIERES SYNDROME 1; AGS1 AGS;; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS;; CREE ENCEPHALITIS;; PSEUDOTOXOPLASMOSIS SYNDROME AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED Number Sign 225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA NULL 225755 ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION Number Sign 225790 PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH HYDRANENCEPHALY, FOWLER TYPE;; FOWLER SYNDROME;; HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY;; ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV Caret 225795 MOVED TO 166000 NULL 226000 ENDOCARDIAL FIBROELASTOSIS; EFE NULL 226100 ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA NULL 226110 ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA NULL 226150 ENTEROCOLITIS Number Sign 226200 ENTEROKINASE DEFICIENCY ENTEROPEPTIDASE DEFICIENCY Number Sign 226300 COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE NULL 226350 EOSINOPHILIC FASCIITIS Number Sign 226400 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1; EV1 EPIDERMODYSPLASIA VERRUCIFORMIS; EV NULL 226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION Caret 226450 MOVED TO 226600 AND 226650 Percent 226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS;; EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE; EBR3 Number Sign 226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL RECESSIVE;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1;; EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED;; EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE, INCLUDED Number Sign 226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE;; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE;; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL;; EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE;; EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED;; JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA, INCLUDED;; JEB-I, INCLUDED Number Sign 226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY;; MD-EBS; MDEBS Number Sign 226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE;; JEB-HERLITZ TYPE;; EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPE;; HERLITZ-PEARSON-TYPE EPIDERMOLYSIS BULLOSA;; EPIDERMOLYSIS BULLOSA LETALIS Number Sign 226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA;; JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA;; JEB-PA;; EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA;; EB-PA-ACC;; CARMI SYNDROME;; APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA NULL 226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA Number Sign 226750 KOHLSCHUTTER-TONZ SYNDROME; KTZS EPILEPSY AND YELLOW TEETH;; EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA;; KOHLSCHUTTER SYNDROME NULL 226800 EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION NULL 226810 EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS NULL 226850 EPILEPSY-TELANGIECTASIA Number Sign 226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE;; MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT;; MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE NULL 226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS Percent 226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS LOWRY-WOOD SYNDROME; LWS Number Sign 226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS MED-IDDM SYNDROME;; IDDM-MED SYNDROME;; WOLCOTT-RALLISON SYNDROME NULL 226985 EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT Number Sign 226990 IMMUNODEFICIENCY 32B; IMD32B IMMUNODEFICIENCY 32B, MONOCYTE, DENDRITIC CELL, AND NATURAL KILLER CELL DEFICIENCY, AUTOSOMAL RECESSIVE;; IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE;; EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY NULL 227000 ERYTHEMA OF ACRAL REGIONS NULL 227010 ERMINE PHENOTYPE PIGMENTARY DISORDER WITH HEARING LOSS BLACK LOCKS WITH ALBINISM AND DEAFNESS SYNDROME, INCLUDED; BADS, INCLUDED Percent 227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD; TEC ERYTHROBLASTOPENIA, TRANSIENT Percent 227090 ERYTHRODERMA, LETHAL CONGENITAL Caret 227100 MOVED TO 120900 Percent 227150 ETHANOLAMINOSIS ETHANOLAMINE KINASE DEFICIENCY Caret 227200 MOVED TO 614841 NULL 227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY Number Sign 227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES;; SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR;; EYE COLOR, BROWN/BLUE;; EYE COLOR, BLUE/NONBLUE;; EYE COLOR 3; EYCL3;; BROWN EYE COLOR 2; BEY2;; HAIR COLOR 3; HCL3 Number Sign 227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR;; SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES;; SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN NULL 227250 FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION NULL 227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS Number Sign 227260 FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 SETLEIS SYNDROME;; BITEMPORAL FORCEPS MARKS SYNDROME;; FACIAL ECTODERMAL DYSPLASIA;; FOCAL FACIAL DERMAL DYSPLASIA, TYPE II, FORMERLY NULL 227270 FACIOCARDIOMELIC DYSPLASIA, LETHAL NULL 227280 FACIOCARDIORENAL SYNDROME EASTMAN-BIXLER SYNDROME Caret 227290 MOVED TO 222448 Caret 227295 MOVED TO 211910 Number Sign 227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1; F5F8D1 FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD1;; FMFD I;; MULTIPLE COAGULATION FACTOR DEFICIENCY I; MCFD1 NULL 227310 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR NULL 227320 FACIOTHORACOGENITAL SYNDROME Percent 227330 FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE AARSKOG-LIKE SYNDROME;; KUWAIT TYPE FACIODIGITOGENITAL SYNDROME Number Sign 227400 FACTOR V DEFICIENCY PARAHEMOPHILIA;; OWREN PARAHEMOPHILIA;; LABILE FACTOR DEFICIENCY Number Sign 227500 FACTOR VII DEFICIENCY F7 DEFICIENCY;; HYPOPROCONVERTINEMIA Number Sign 227600 FACTOR X DEFICIENCY F10 DEFICIENCY;; STUART-PROWER FACTOR DEFICIENCY Number Sign 227645 FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC FACC; FAC;; FANCONI PANCYTOPENIA, TYPE 3; FA3 Number Sign 227646 FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 FAD2;; FANCONI ANEMIA, COMPLEMENTATION GROUP D; FANCD; FACD;; FANCONI PANCYTOPENIA, TYPE 4; FA4 Number Sign 227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA FANCONI ANEMIA; FA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED;; ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA, INCLUDED;; ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA, INCLUDED Caret 227660 MOVED TO 300514 Caret 227700 MOVED TO 134600 Caret 227800 MOVED TO 134600 Number Sign 227810 FANCONI-BICKEL SYNDROME; FBS HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME;; HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY;; HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA;; FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE;; PSEUDO-PHLORIZIN DIABETES;; GLYCOGENOSIS, FANCONI TYPE;; GLYCOGEN STORAGE DISEASE XI NULL 227850 FANCONI-LIKE SYNDROME Number Sign 228000 FARBER LIPOGRANULOMATOSIS; FRBRL FARBER DISEASE;; CERAMIDASE DEFICIENCY;; ACID CERAMIDASE DEFICIENCY;; AC DEFICIENCY;; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY NULL 228020 FASCIAL DYSTROPHY, CONGENITAL Percent 228100 VISCERAL STEATOSIS, CONGENITAL FATTY LIVER DISEASE, CONGENITAL;; FATTY METAMORPHOSIS OF VISCERA;; STEATOSIS OF LIVER;; WHITE LIVER DISEASE NULL 228200 FEMUR-FIBULA-ULNA SYNDROME FFU SYNDROME Percent 228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY GOLLOP-WOLFGANG COMPLEX; GWC Number Sign 228300 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 PASQUALINI SYNDROME;; FERTILE EUNUCH SYNDROME NULL 228355 FETAL IODINE DEFICIENCY DISORDER; FIDD ENDEMIC CRETINISM NULL 228400 FEVER, FAMILIAL LIFELONG PERSISTENT Number Sign 228520 FIBROCHONDROGENESIS 1; FBCG1 Number Sign 228550 MYOFIBROMATOSIS, INFANTILE, 1; IMF1 MYOFIBROMATOSIS, JUVENILE;; FIBROMATOSIS, CONGENITAL GENERALIZED; CGF NULL 228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES Number Sign 228600 HYALINE FIBROMATOSIS SYNDROME; HFS HYALINOSIS, SYSTEMIC NULL 228800 FIBROSCLEROSIS, MULTIFOCAL MEDIASTINAL FIBROSIS, FAMILIAL;; RETROPERITONEAL FIBROSIS, FAMILIAL Number Sign 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY DU PAN SYNDROME Number Sign 228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY FUHRMANN SYNDROME NULL 228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES Number Sign 228960 HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY HMWK DEFICIENCY;; KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT;; FITZGERALD TRAIT KININOGEN DEFICIENCY, TOTAL, INCLUDED;; KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT, INCLUDED;; FLAUJEAC TRAIT, INCLUDED;; WILLIAMS TRAIT, INCLUDED Number Sign 228980 FLECK RETINA, FAMILIAL BENIGN; FRFB NULL 228990 FLECK RETINA OF KANDORI Asterisk 229000 KALLIKREIN B, PLASMA, 1; KLKB1 PREKALLIKREIN; PKK;; FLETCHER FACTOR;; KLK3, FORMERLY NULL 229045 FOCAL EPITHELIAL HYPERPLASIA, ORAL FEH, ORAL;; HECK DISEASE Number Sign 229050 FOLATE MALABSORPTION, HEREDITARY Number Sign 229070 HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA; HH24 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED Number Sign 229100 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY FORMIMINOTRANSFERASE DEFICIENCY;; FORMIMINOGLUTAMIC ACIDURIA;; FIGLU-URIA Percent 229120 FOUNTAIN SYNDROME MENTAL RETARDATION, SENSORINEURAL DEAFNESS, SKELETAL ABNORMALITIES, AND COARSE FACE WITH FULL LIPS Caret 229150 MOVED TO 300624 Number Sign 229200 BRITTLE CORNEA SYNDROME 1; BCS1 FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY;; CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY;; DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE;; EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY NULL 229230 FRASER-LIKE SYNDROME FUSED EYELIDS, AIRWAY ANOMALIES, OVARIAN CYSTS, AND DIGITAL ANOMALIES NULL 229250 FREESIA FLOWERS, INABILITY TO SMELL Number Sign 229300 FRIEDREICH ATAXIA 1; FRDA FRDA1;; FA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED NULL 229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA Percent 229400 FRONTOFACIONASAL DYSPLASIA FFND;; FRONTOFACIONASAL DYSOSTOSIS Percent 229500 FRUCTOSE AND GALACTOSE INTOLERANCE Number Sign 229600 FRUCTOSE INTOLERANCE, HEREDITARY FRUCTOSEMIA;; FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY;; FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY;; ALDOLASE B DEFICIENCY;; ALDOB DEFICIENCY NULL 229650 FRUCTOSE UTILIZATION Number Sign 229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D Number Sign 229800 FRUCTOSURIA, ESSENTIAL HEPATIC FRUCTOKINASE DEFICIENCY;; KETOHEXOKINASE DEFICIENCY Percent 229850 FRYNS SYNDROME; FRNS DIAPHRAGMATIC HERNIA, ABNORMAL FACE, AND DISTAL LIMB ANOMALIES Caret 229900 MOVED TO 258870 Caret 229950 MOVED TO 136820 Number Sign 230000 FUCOSIDOSIS ALPHA-L-FUCOSIDASE DEFICIENCY Number Sign 230200 GALACTOKINASE DEFICIENCY GALK DEFICIENCY;; GALACTOSEMIA II NULL 230300 GALACTORRHEA Number Sign 230350 GALACTOSE EPIMERASE DEFICIENCY GALE DEFICIENCY;; GALACTOSEMIA III;; UDP-GALACTOSE-4-EPIMERASE DEFICIENCY Number Sign 230400 GALACTOSEMIA GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY;; GALT DEFICIENCY;; GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT, INCLUDED Caret 230430 MOVED TO 300622 Number Sign 230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO Number Sign 230500 GM1-GANGLIOSIDOSIS, TYPE I GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I;; GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1;; BETA-GALACTOSIDASE-1 DEFICIENCY;; GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED Number Sign 230600 GM1-GANGLIOSIDOSIS, TYPE II GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2 GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED Number Sign 230650 GM1-GANGLIOSIDOSIS, TYPE III GANGLIOSIDOSIS, GENERALIZED GM1, ADULT TYPE;; GANGLIOSIDOSIS, GENERALIZED GM1, CHRONIC TYPE;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III;; GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3 Caret 230700 MOVED TO 272800 Caret 230710 MOVED TO 272800 Number Sign 230740 GAPO SYNDROME; GAPOS GROWTH RETARDATION, ALOPECIA, PSEUDOANODONTIA, AND OPTIC ATROPHY NULL 230750 GASTROSCHISIS ABDOMINAL WALL DEFECTS, INCLUDED Number Sign 230800 GAUCHER DISEASE, TYPE I GD I;; GAUCHER DISEASE, NONCEREBRAL JUVENILE;; GLUCOCEREBROSIDASE DEFICIENCY;; ACID BETA-GLUCOSIDASE DEFICIENCY;; GBA DEFICIENCY Number Sign 230900 GAUCHER DISEASE, TYPE II GD II;; GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE Number Sign 231000 GAUCHER DISEASE, TYPE III GD III;; GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE;; GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE;; GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL GAUCHER DISEASE, TYPE IIIA, INCLUDED;; GAUCHER DISEASE, TYPE IIIB, INCLUDED;; GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED Number Sign 231005 GAUCHER DISEASE, TYPE IIIC Number Sign 231050 GELEOPHYSIC DYSPLASIA 1; GPHYSD1 NULL 231060 GENITOPALATOCARDIAC SYNDROME GARDNER-SILENGO-WACHTEL SYNDROME;; MALE PSEUDOHERMAPHRODITISM WITH MICROGNATHIA, CLEFT PALATE, AND CONOTRUNCAL CARDIAC DEFECT Number Sign 231070 GERODERMA OSTEODYSPLASTICUM; GO GERODERMIA OSTEODYSPLASTICA;; WALT DISNEY DWARFISM NULL 231080 GERMAN SYNDROME Number Sign 231090 HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1 HYDATIDIFORM MOLE; HYDM;; HYDATIDIFORM MOLE, COMPLETE; CHM;; GESTATIONAL TROPHOBLASTIC DISEASE Number Sign 231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD GHOSAL SYNDROME NULL 231100 HEMOCHROMATOSIS, NEONATAL NH;; NHC;; ALLOIMMUNE HEPATITIS, CONGENITAL;; NEONATAL HEPATITIS, FORMERLY;; GIANT CELL HEPATITIS, FORMERLY Number Sign 231200 BERNARD-SOULIER SYNDROME; BSS BLEEDING DISORDER, PLATELET-TYPE, 1; BDPLT1;; PLATELET GLYCOPROTEIN Ib DEFICIENCY;; GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF;; VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY BERNARD-SOULIER SYNDROME, TYPE A1, INCLUDED;; BERNARD-SOULIER SYNDROME, TYPE B, INCLUDED;; BERNARD-SOULIER SYNDROME, TYPE C, INCLUDED Number Sign 231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A GLAUCOMA, CONGENITAL; GLC3;; BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED;; GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, INCLUDED Caret 231400 REMOVED FROM DATABASE Caret 231500 MOVED TO 231300 Caret 231520 MOVED TO 273750 Number Sign 231530 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY HADH DEFICIENCY;; SCHAD DEFICIENCY, FORMERLY Number Sign 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS TRIPLE-A SYNDROME;; ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER;; GLUCOCORTICOID DEFICIENCY AND ACHALASIA;; ALLGROVE SYNDROME;; ADDISONIAN-ACHALASIA SYNDROME;; HYPOADRENALISM WITH ACHALASIA;; ALACRIMA-ACHALASIA-ADDISONIANISM;; ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME, INCLUDED Caret 231610 REMOVED FROM DATABASE NULL 231630 MONOSODIUM GLUTAMATE SENSITIVITY CHINESE RESTAURANT SYNDROME Number Sign 231670 GLUTARIC ACIDEMIA I; GA1 GLUTARIC ACIDURIA I;; GA I;; GLUTARYL-CoA DEHYDROGENASE DEFICIENCY Asterisk 231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE; ETFQO Number Sign 231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD GLUTARIC ACIDEMIA II; GA2;; GLUTARIC ACIDURIA II;; GA II;; ETHYLMALONIC-ADIPICACIDURIA; EMA GLUTARIC ACIDEMIA IIA, INCLUDED; GA2A, INCLUDED;; ETFA DEFICIENCY, INCLUDED;; GLUTARIC ACIDEMIA IIB, INCLUDED; GA2B, INCLUDED;; ETFB DEFICIENCY, INCLUDED;; GLUTARIC ACIDEMIA IIC, INCLUDED; GA2C, INCLUDED;; ETFDH DEFICIENCY, INCLUDED Number Sign 231690 GLUTARIC ACIDURIA III; GA3 GA III;; GLUTARYL-CoA OXIDASE DEFICIENCY Number Sign 231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO; GSSDE Number Sign 231950 GLUTATHIONURIA GAMMA-GLUTAMYLTRANSPEPTIDASE DEFICIENCY;; GGT DEFICIENCY;; GTG DEFICIENCY;; GAMMA-GLUTAMYLTRANSFERASE DEFICIENCY NULL 231970 GLUTEAL MUSCLES, ABSENCE OF Asterisk 232000 PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA pccA COMPLEMENTATION GROUP Asterisk 232050 PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB pccBC COMPLEMENTATION GROUP Number Sign 232200 GLYCOGEN STORAGE DISEASE Ia; GSD1A GSD Ia;; GLYCOGEN STORAGE DISEASE I; GSD1;; VON GIERKE DISEASE;; HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE;; GLUCOSE-6-PHOSPHATASE DEFICIENCY;; HEPATORENAL GLYCOGENOSIS Caret 232210 MOVED TO 232200 Number Sign 232220 GLYCOGEN STORAGE DISEASE Ib; GSD1B GSD Ib;; GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT Number Sign 232240 GLYCOGEN STORAGE DISEASE Ic; GSD1C GSD Ic GLYCOGEN STORAGE DISEASE Id, INCLUDED; GSD1D, INCLUDED Number Sign 232300 GLYCOGEN STORAGE DISEASE II; GSD2 GSD II; ACID ALPHA-GLUCOSIDASE DEFICIENCY;; GAA DEFICIENCY;; POMPE DISEASE;; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM;; CARDIOMEGALIA GLYCOGENICA DIFFUSA;; ACID MALTASE DEFICIENCY; AMD;; ALPHA-1,4-GLUCOSIDASE DEFICIENCY Caret 232330 MOVED TO 300257 Number Sign 232400 GLYCOGEN STORAGE DISEASE III; GSD3 FORBES DISEASE;; CORI DISEASE;; LIMIT DEXTRINOSIS;; AMYLO-1,6-GLUCOSIDASE DEFICIENCY;; AGL DEFICIENCY;; GLYCOGEN DEBRANCHER DEFICIENCY;; GDE DEFICIENCY GLYCOGEN STORAGE DISEASE IIIa, INCLUDED; GSD IIIa, INCLUDED;; GLYCOGEN STORAGE DISEASE IIIb, INCLUDED; GSD IIIb, INCLUDED;; GLYCOGEN STORAGE DISEASE IIIc, INCLUDED; GSD IIIc, INCLUDED;; GLYCOGEN STORAGE DISEASE IIId, INCLUDED; GSD IIId, INCLUDED Number Sign 232500 GLYCOGEN STORAGE DISEASE IV; GSD4 GSD IV;; GLYCOGEN BRANCHING ENZYME DEFICIENCY;; GBE1 DEFICIENCY;; ANDERSEN DISEASE;; BRANCHER DEFICIENCY;; GLYCOGENOSIS IV;; AMYLOPECTINOSIS;; CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGEN GSD IV, CLASSIC HEPATIC, INCLUDED;; GSD IV, NONPROGRESSIVE HEPATIC, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, FATAL PERINATAL, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, CONGENITAL, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, CHILDHOOD, INCLUDED;; GSD IV, NEUROMUSCULAR FORM, ADULT, WITH ISOLATED MYOPATHY, INCLUDED Number Sign 232600 GLYCOGEN STORAGE DISEASE V; GSD5 GSD V;; MCARDLE DISEASE;; MYOPHOSPHORYLASE DEFICIENCY;; MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY;; PYGM DEFICIENCY Number Sign 232700 GLYCOGEN STORAGE DISEASE VI; GSD6 GSD VI;; HERS DISEASE;; PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER Number Sign 232800 GLYCOGEN STORAGE DISEASE VII; GSD7 GSD VII;; MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY;; PFKM DEFICIENCY;; TARUI DISEASE NULL 232900 GLYCOPROTEIN STORAGE DISEASE Number Sign 233100 RENAL GLUCOSURIA; GLYS GLYS1;; GLYCOSURIA, RENAL NULL 233270 GOMBO SYNDROME GROWTH RETARDATION, OCULAR ABNORMALITIES, MICROCEPHALY, BRACHYDACTYLY, AND OLIGOPHRENIA Number Sign 233300 OVARIAN DYSGENESIS 1; ODG1 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE;; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE;; GONADAL DYSGENESIS, XX TYPE;; XX GONADAL DYSGENESIS; XXGD;; OVARIAN FAILURE, HYPERGONADOTROPIC Number Sign 233400 PERRAULT SYNDROME 1; PRLTS1 OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS;; GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS Number Sign 233420 46,XY SEX REVERSAL 7; SRXY7 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, DHH-RELATED;; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, DHH-RELATED;; GONADAL DYSGENESIS, XY, MALE-LIMITED; GDXYM NULL 233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES NULL 233450 GOODPASTURE SYNDROME Caret 233500 MOVED TO 612289 Number Sign 233600 IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA; IMD59 GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY Number Sign 233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG NULL 233670 GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS Number Sign 233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE;; CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b;; CYBA DEFICIENCY Number Sign 233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I; CDG1 CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE I;; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF1 DEFICIENCY;; NEUTROPHIL CYTOSOL FACTOR 1, DEFICIENCY OF;; NCF1, DEFICIENCY OF;; SOLUBLE OXIDASE COMPONENT II, DEFICIENCY OF;; SOC2, DEFICIENCY OF;; p47-PHOX, DEFICIENCY OF Number Sign 233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II; CDG2 CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II;; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY;; NEUTROPHIL CYTOSOL FACTOR 2, DEFICIENCY OF;; NCF2, DEFICIENCY OF;; p67-PHOX, DEFICIENCY OF NULL 233800 GROUPED PIGMENTATION OF THE RETINA GROUPED PIGMENTATION OF RETINAL PIGMENT EPITHELIUM;; GROUPED PIGMENTATION OF THE MACULA NULL 233805 GROWTH FACTORS, COMBINED DEFECT OF INSULIN, INSULIN-LIKE GROWTH FACTOR I, AND EPIDERMAL GROWTH FACTOR DEFICIENCY;; WERNER-LIKE SYNDROME DUE TO COMBINED GROWTH FACTOR DEFICIENCY NULL 233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA Number Sign 233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY;; GTP CYCLOHYDROLASE I DEFICIENCY DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED Number Sign 234000 FACTOR XII DEFICIENCY F12 DEFICIENCY;; HAGEMAN FACTOR DEFICIENCY;; HAF DEFICIENCY NULL 234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION Number Sign 234050 TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;; AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;; HAIR-BRAIN SYNDROME;; BIDS SYNDROME;; POLLITT SYNDROME;; TRICHOTHIODYSTROPHY-NEUROCUTANEOUS SYNDROME Percent 234100 HALLERMANN-STREIFF SYNDROME; HSS FRANCOIS DYSCEPHALIC SYNDROME Number Sign 234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;; PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;; HALLERVORDEN-SPATZ DISEASE NULL 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME NULL 234280 HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY NULL 234300 HALO NEVI LEUKODERMA ACQUISITUM CENTRIFUGUM OF SUTTON NULL 234350 HALOTHANE HEPATITIS Number Sign 234500 HARTNUP DISORDER; HND HARTNUP DISEASE Number Sign 234580 HEIMLER SYNDROME 1; HMLR1 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS;; PEROXISOME BIOGENESIS DISORDER 1C; PBD1C NULL 234700 HEART BLOCK, CONGENITAL NULL 234750 HEART, MALFORMATION OF NULL 234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES Number Sign 234810 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY NULL 234820 HEMANGIOPERICYTOMA, MALIGNANT Percent 235000 HEMIHYPERPLASIA, ISOLATED; IH HEMIHYPERPLASIA; HHP;; HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME, INCLUDED Number Sign 235200 HEMOCHROMATOSIS, TYPE 1; HFE1 HEMOCHROMATOSIS; HFE;; HEMOCHROMATOSIS, HEREDITARY; HH Percent 235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY URIOSTE SYNDROME Caret 235360 MOVED TO 219100 NULL 235370 HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS Number Sign 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 AHUS, SUSCEPTIBILITY TO, 1 HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED NULL 235500 HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN Number Sign 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1; HKLLS1 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME;; LYMPHATIC DYSPLASIA, GENERALIZED Number Sign 235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI Number Sign 235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 CHOLESTASIS WITH DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY Caret 235600 MOVED TO 400045 Number Sign 235700 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Number Sign 235730 MOWAT-WILSON SYNDROME; MOWS MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE;; HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME Caret 235735 MOVED TO 277580 NULL 235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS NULL 235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT NULL 235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES Number Sign 235800 HISTIDINEMIA HISTIDINE AMMONIA-LYASE DEFICIENCY;; HAL DEFICIENCY;; HISTIDASE DEFICIENCY;; HIS DEFICIENCY Percent 235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT Percent 235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME Number Sign 236000 LYMPHOMA, HODGKIN, CLASSIC; CHL HODGKIN DISEASE Percent 236100 HOLOPROSENCEPHALY 1; HPE1 HOLOPROSENCEPHALY, FAMILIAL ALOBAR;; HPE, FAMILIAL; HPEC;; ARHINENCEPHALY;; CYCLOPIA;; DEMYER SEQUENCE NULL 236110 HOLZGREVE SYNDROME NULL 236130 HOMOCARNOSINOSIS HOMOCARNOSINASE DEFICIENCY Number Sign 236200 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE;; CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;; CBS DEFICIENCY HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED Number Sign 236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY;; MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED Number Sign 236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE; HMAE HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE;; VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE;; METHYLCOBALAMIN DEFICIENCY, cblE TYPE NULL 236300 HOOFT DISEASE Percent 236400 HUMERORADIAL SYNOSTOSIS HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME, INCLUDED NULL 236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES NULL 236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME COND;; CEREBROOSTEONEPHOSIS SYNDROME Caret 236490 MOVED TO 228600 Number Sign 236500 MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY; MARCH HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA Number Sign 236600 HYDROCEPHALUS, CONGENITAL, 1; HYC1 HYDROCEPHALY;; VENTRICULOMEGALY;; HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1, FORMERLY NULL 236635 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS AQUEDUCTAL STENOSIS NULL 236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS NULL 236660 HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS Number Sign 236670 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED;; HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA;; HARD SYNDROME;; CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME;; COD-MD SYNDROME Number Sign 236680 HYDROLETHALUS SYNDROME 1; HLS1 NULL 236690 HYDROCEPHALUS, NORMAL-PRESSURE Number Sign 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS HYDROMETROCOLPOS SYNDROME;; HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION; HMCS;; KAUFMAN-MCKUSICK SYNDROME Number Sign 236730 UROFACIAL SYNDROME 1; UFS1 UROFACIAL SYNDROME; UFS;; OCHOA SYNDROME;; HYDRONEPHROSIS WITH PECULIAR FACIAL EXPRESSION;; INVERTED SMILE AND OCCULT NEUROPATHIC BLADDER;; FACIAL PALSY, PARTIAL, WITH URINARY ABNORMALITIES Number Sign 236750 HYDROPS FETALIS, NONIMMUNE; NIHF HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED, INCLUDED;; HEMOGLOBIN H HYDROPS FETALIS SYNDROME, INCLUDED Number Sign 236792 L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA L-2-HYDROXYGLUTARIC ACIDEMIA Percent 236795 3-HYDROXYISOBUTYRIC ACIDURIA Number Sign 236800 HYDROXYKYNURENINURIA XANTHURENIC ACIDURIA;; KYNURENINASE DEFICIENCY, PARTIAL Percent 236900 HYDROXYLYSINURIA NULL 237000 HYDROXYPROLINEMIA 4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY NULL 237100 HYMEN, IMPERFORATE Number Sign 237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY;; CPS I DEFICIENCY Number Sign 237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY;; N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY;; NAGS DEFICIENCY NULL 237400 HYPER-BETA-ALANINEMIA HYPERALANINEMIA Number Sign 237450 HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR ROTOR SYNDROME Number Sign 237500 DUBIN-JOHNSON SYNDROME; DJS HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE; HBLRDJ;; HYPERBILIRUBINEMIA II NULL 237550 HYPERBILIRUBINEMIA, CONJUGATED, TYPE III Percent 237800 HYPERBILIRUBINEMIA, SHUNT, PRIMARY; PSHB Number Sign 237900 HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL; HBLRTFN LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE, INCLUDED Caret 238200 MOVED TO 220100 Asterisk 238300 GLYCINE DECARBOXYLASE; GLDC GLYCINE CLEAVAGE SYSTEM P PROTEIN; GCSP;; GLYCINE DEHYDROGENASE Asterisk 238310 AMINOMETHYLTRANSFERASE; AMT GLYCINE CLEAVAGE SYSTEM T PROTEIN; GCST Number Sign 238320 LEYDIG CELL HYPOPLASIA, TYPE I LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM;; HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT;; LEYDIG CELL HYPOPLASIA, COMPLETE;; LEYDIG CELL AGENESIS LEYDIG CELL HYPOPLASIA, TYPE II, INCLUDED;; LEYDIG CELL HYPOPLASIA, PARTIAL, INCLUDED;; LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED Asterisk 238330 GLYCINE CLEAVAGE SYSTEM H PROTEIN; GCSH Asterisk 238331 DIHYDROLIPOAMIDE DEHYDROGENASE; DLD PYRUVATE DEHYDROGENASE COMPONENT E3; PHE3; E3;; BRANCHED CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX, E3 COMPONENT;; LIPOAMIDE REDUCTASE;; LIPOAMIDE DEHYDROGENASE; LAD; LADH;; LIPOYL DEHYDROGENASE;; DIHYDROLIPOYL DEHYDROGENASE;; DIAPHORASE;; GLYCINE CLEAVAGE SYSTEM L PROTEIN; GCSL NULL 238340 HYPERLEUCINE-ISOLEUCINEMIA NULL 238350 HYPERLEXIA COMPULSIVE READING;; PRECOCIOUS READING Caret 238400 MOVED TO 144650 Caret 238500 MOVED TO 144650 Number Sign 238600 HYPERLIPOPROTEINEMIA, TYPE I LIPOPROTEIN LIPASE DEFICIENCY;; LPL DEFICIENCY;; HYPERCHYLOMICRONEMIA, FAMILIAL;; HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPE;; HYPERLIPEMIA, ESSENTIAL FAMILIAL;; LIPASE D DEFICIENCY;; LIPD DEFICIENCY;; HYPERLIPOPROTEINEMIA, TYPE IA;; CHYLOMICRONEMIA, FAMILIAL HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11, INCLUDED; HDLCQ11, INCLUDED Number Sign 238700 HYPERLYSINEMIA, TYPE I LYSINE:ALPHA-KETOGLUTARATE REDUCTASE DEFICIENCY;; ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY;; LYSINE INTOLERANCE;; L-LYSINE:NAD-OXIDO-REDUCTASE DEFICIENCY NULL 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA NULL 238750 HYPERLYSINURIA WITH HYPERAMMONEMIA HYPERLYSINEMIA, PERIODIC NULL 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA NULL 238950 HYPEROPIA, HIGH Number Sign 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME HHH SYNDROME; HHHS; HHH;; ORNITHINE TRANSLOCASE DEFICIENCY Number Sign 239000 PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5 JUVENILE PAGET DISEASE; JPD;; HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS;; HYPERPHOSPHATASIA, FAMILIAL IDIOPATHIC;; HYPERPHOSPHATASEMIA, CHRONIC CONGENITAL IDIOPATHIC;; OSTEOECTASIA, FAMILIAL Number Sign 239100 VAN BUCHEM DISEASE; VBCH HYPEROSTOSIS CORTICALIS GENERALISATA;; HYPERPHOSPHATASEMIA TARDA;; ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE NULL 239199 HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA Number Sign 239200 HYPERPARATHYROIDISM, NEONATAL SEVERE; NSHPT NSPH; NHPT;; HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY Number Sign 239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 MABRY SYNDROME;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2; GPIBD2 NULL 239350 HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES Caret 239400 REMOVED FROM DATABASE Number Sign 239500 HYPERPROLINEMIA, TYPE I; HYRPRO1 HPI;; PROLINE OXIDASE DEFICIENCY Number Sign 239510 HYPERPROLINEMIA, TYPE II; HYRPRO2 HPII;; 1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY NULL 239710 ACROFRONTOFACIONASAL DYSOSTOSIS 2 AFFN DYSOSTOSIS 2; AFFND2;; ACROFRONTOFACIONASAL DYSOSTOSIS WITH GENITOURINARY ANOMALIES;; NAGUIB-RICHIERI-COSTA SYNDROME;; HYPERTELORISM, HYPOSPADIAS, AND POLYSYNDACTYLY SYNDROME NULL 239711 HYPERTELORISM AND TETRALOGY OF FALLOT Percent 239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME HMC SYNDROME NULL 239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY Number Sign 239850 CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA NULL 239900 HYPERTROPHIC NEUROPATHY AND CATARACT NULL 240000 HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE Caret 240100 REMOVED FROM DATABASE NULL 240150 HYPERVITAMINOSIS A, SUSCEPTIBILITY TO Percent 240200 HYPOADRENOCORTICISM, FAMILIAL ADRENAL HYPOPLASIA;; ADRENAL APLASIA;; ADDISON DISEASE Number Sign 240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 APS I;; AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY; APECED;; AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE I;; POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE I;; PGA I;; HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT, INCLUDED;; POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED NULL 240400 HYPOASCORBEMIA SCURVY;; VITAMIN C, INABILITY TO SYNTHESIZE L-GULONOLACTONE OXIDASE PSEUDOGENE, INCLUDED; GULOP, INCLUDED;; L-GULONOLACTONE OXIDASE, NONFUNCTIONAL, INCLUDED;; GULO, NONFUNCTIONAL, INCLUDED Number Sign 240500 IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 ANTIBODY DEFICIENCY DUE TO TACI DEFECT;; HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY Number Sign 240600 GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A GSD 0a;; HYPOGLYCEMIA WITH DEFICIENCY OF GLYCOGEN SYNTHETASE IN THE LIVER;; LIVER GLYCOGEN SYNTHASE DEFICIENCY;; LIVER GLYCOGEN STORAGE DISEASE 0 Number Sign 240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY Number Sign 240900 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH NULL 240950 HYPOGONADISM-CATARACT SYNDROME CATARACTS AND TESTICULAR FAILURE NULL 241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY Number Sign 241080 WOODHOUSE-SAKATI SYNDROME; WDSKS HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME;; EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIA Percent 241090 HYPERGONADOTROPIC HYPOGONADISM AND PARTIAL ALOPECIA NULL 241100 HYPOGONADISM, MALE HYPOGONADISM AND TESTICULAR ATROPHY, INCLUDED NULL 241120 HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES SWEAT GLAND HYPOPLASIA Percent 241150 HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY HYPOKALEMIA, FAMILIAL;; GULLNER SYNDROME Number Sign 241200 BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL;; HYPERPROSTAGLANDIN E SYNDROME 2 Percent 241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS Caret 241400 MOVED TO 146200 Number Sign 241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES;; SANJAD-SAKATI SYNDROME;; HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY Number Sign 241500 HYPOPHOSPHATASIA, INFANTILE HOPS;; PHOSPHOETHANOLAMINURIA HYPOPHOSPHATASIA, PERINATAL LETHAL, INCLUDED Number Sign 241510 HYPOPHOSPHATASIA, CHILDHOOD NULL 241519 HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS Number Sign 241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1; ARHR1 ARHR;; HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE; ARHP Number Sign 241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH HYPERCALCIURIC RICKETS NULL 241540 HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS Number Sign 241550 HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1 HLHS Number Sign 241600 IMMUNODEFICIENCY 43; IMD43 BETA-2-MICROGLOBULIN DEFICIENCY;; B2M DEFICIENCY;; HYPOPROTEINEMIA, HYPERCATABOLIC Caret 241750 MOVED TO 146450 NULL 241760 HYPOSPADIAS-MENTAL RETARDATION SYNDROME NULL 241800 HYPOTHALAMIC HAMARTOMAS CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED Number Sign 241850 HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE BAMFORTH-LAZARUS SYNDROME Caret 241900 MOVED TO 203655 NULL 242050 HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY Number Sign 242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2 COLLODION BABY, SELF-HEALING;; ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL, 1, FORMERLY; NCIE1, FORMERLY;; ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM, FORMERLY NULL 242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE;; KID SYNDROME, AUTOSOMAL RECESSIVE;; DESMONS SYNDROME Caret 242170 MOVED TO 601675 Number Sign 242300 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION;; COLLODION BABY, SELF-HEALING; SHCB;; ICHTHYOSIS CONGENITA;; LAMELLAR EXFOLIATION OF NEWBORN;; DESQUAMATION OF NEWBORN;; COLLODION FETUS;; ICHTHYOSIS CONGENITA II; ICR2;; ICHTHYOSIS, LAMELLAR, 1, FORMERLY; LI1, FORMERLY NULL 242400 ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA Number Sign 242500 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE;; HARLEQUIN ICHTHYOSIS; HI;; 'HARLEQUIN FETUS' NULL 242510 ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND MENTAL RETARDATION NULL 242520 ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION NULL 242530 ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT NULL 242550 ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA Number Sign 242600 IMINOGLYCINURIA Caret 242650 MOVED TO 244400 Percent 242670 CILIARY DYSKINESIA WITH DEFECTIVE RADIAL SPOKES IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES NULL 242680 CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA Percent 242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS T-LYMPHOCYTE DEFICIENCY;; NEZELOF SYNDROME;; THYMIC APLASIA Caret 242800 REMOVED FROM DATABASE Number Sign 242840 VICI SYNDROME; VICIS IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM NULL 242850 IMMUNE DEFICIENCY DISEASE Number Sign 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1; ICF1 IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16;; CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;; IMMUNODEFICIENCY SYNDROME, VARIABLE NULL 242870 IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES NULL 242880 IMMUNOERYTHROMYELOID HYPOPLASIA NULL 242890 IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW Number Sign 242900 SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE Number Sign 243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED;; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE;; ASYMBOLIA FOR PAIN NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED; HSAN2D, INCLUDED NULL 243050 INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION Number Sign 243060 SPERMATOGENIC FAILURE 5; SPGF5 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA;; INFERTILITY ASSOCIATED WITH MULTITAILED SPERMATOZOA AND EXCESSIVE DNA NULL 243080 INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO Caret 243095 MOVED TO 270450 NULL 243100 INTERNAL CAROTID ARTERIES, HYPOPLASIA OF NULL 243110 IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO Number Sign 243150 GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME; GIDID INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY;; INTESTINAL ATRESIA, MULTIPLE; MINAT;; FAMILIAL INTESTINAL POLYATRESIA SYNDROME; FIPA Percent 243180 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE;; ARGYROPHIL MYENTERIC PLEXUS, DEFICIENCY OF;; PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE NEURONAL INTESTINAL DYSPLASIA, TYPE A, INCLUDED;; NID A, INCLUDED NULL 243185 INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH NULL 243200 INTRACRANIAL HYPERTENSION, IDIOPATHIC PSEUDOTUMOR CEREBRI Number Sign 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 SUMMERSKILL SYNDROME Asterisk 243305 INVERSIN; INVS INVERSION OF EMBRYONIC TURNING; INV;; NEPHROCYSTIN 2; NPHP2 Number Sign 243310 BARAITSER-WINTER SYNDROME 1; BRWS1 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION;; FRYNS-AFTIMOS SYNDROME;; PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES;; CEREBROOCULOFACIAL LYMPHATIC SYNDROME; COFLS;; MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES;; CEREBROFRONTOFACIAL SYNDROME;; CHROMOSOME 7p22 DELETION SYNDROME NULL 243320 INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF Caret 243340 MOVED TO 242860 Number Sign 243400 ACETYLATION, SLOW SLOW ACETYLATOR PHENOTYPE;; ISONIAZID INACTIVATION, SLOW;; INH INACTIVATION, SLOW ACETYLATION, FAST, INCLUDED;; FAST ACETYLATOR PHENOTYPE, INCLUDED;; INH INACTIVATION, FAST, INCLUDED NULL 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME MICROTIA-AORTIC ARCH SYNDROME NULL 243450 ISOVALERIC ACID, INABILITY TO SMELL Number Sign 243500 ISOVALERIC ACIDEMIA; IVA ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY;; IVD DEFICIENCY Percent 243600 JEJUNAL ATRESIA APPLE PEEL SYNDROME;; APPLE PEEL SMALL BOWEL SYNDROME; APSB Number Sign 243605 STROMME SYNDROME; STROMS JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES;; APPLE PEEL SYNDROME WITH MICROCEPHALY AND OCULAR ANOMALIES;; CILIARY DYSKINESIA, PRIMARY, 31, FORMERLY; CILD31, FORMERLY Number Sign 243700 HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; HIES2 HYPER-IgE SYNDROME, AUTOSOMAL RECESSIVE;; HIES, AUTOSOMAL RECESSIVE Number Sign 243800 JOHANSON-BLIZZARD SYNDROME; JBS NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS Percent 243910 ARIMA SYNDROME DEKABAN-ARIMA SYNDROME;; JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA;; COLOBOMA, CHORIORETINAL, WITH CEREBELLAR VERMIS APLASIA;; CEREBROOCULOHEPATORENAL SYNDROME NULL 244100 JUMPING FRENCHMEN OF MAINE Number Sign 244200 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3 Percent 244300 KAPUR-TORIELLO SYNDROME LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINAL ANOMALIES Number Sign 244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1 PCD;; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS;; IMMOTILE CILIA SYNDROME; ICS;; POLYNESIAN BRONCHIECTASIS KARTAGENER SYNDROME, INCLUDED;; DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED;; SIEWERT SYNDROME, INCLUDED Number Sign 244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME; BPIDS Number Sign 244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1 KCS;; KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE Caret 244500 MOVED TO 148300 NULL 244510 KERATOCONUS AND CONGENITAL HIP DYSPLASIA NULL 244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED NULL 244850 PALMOPLANTAR KERATODERMA, NORRBOTTEN RECESSIVE TYPE; PPKNR Number Sign 245000 PAPILLON-LEFEVRE SYNDROME; PALS PLS;; KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA Number Sign 245010 HAIM-MUNK SYNDROME; HMS KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS;; COCHIN JEWISH DISORDER Number Sign 245050 SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY; SCOTD SCOT DEFICIENCY;; SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY;; SUCCINYL-CoA:ACETOACETATE TRANSFERASE DEFICIENCY;; KETOACIDOSIS DUE TO SCOT DEFICIENCY Percent 245100 RICHARDS-RUNDLE SYNDROME; RRNS ATAXIA-DEAFNESS-MENTAL RETARDATION SYNDROME NULL 245130 KETOADIPICACIDURIA Number Sign 245150 KEUTEL SYNDROME; KTLS PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES NULL 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS BURTON SYNDROME NULL 245180 KIFAFA SEIZURE DISORDER NULL 245190 KNIEST-LIKE DYSPLASIA, LETHAL Number Sign 245200 KRABBE DISEASE GLOBOID CELL LEUKODYSTROPHY; GLD; GCL;; GLOBOID CELL LEUKOENCEPHALOPATHY;; GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY;; GALACTOCEREBROSIDASE DEFICIENCY;; GALC DEFICIENCY Caret 245210 MOVED TO 192430 AND 188400 Number Sign 245300 KURU, SUSCEPTIBILITY TO Number Sign 245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO Number Sign 245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX Number Sign 245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY; PDHXD LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX Number Sign 245400 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY Number Sign 245450 D-LACTIC ACIDURIA; DLACD Number Sign 245480 SPECIFIC GRANULE DEFICIENCY 1; SGD1 LACTOFERRIN-DEFICIENT NEUTROPHILS;; NEUTROPHIL LACTOFERRIN DEFICIENCY Caret 245500 REMOVED FROM DATABASE NULL 245550 LAMBERT SYNDROME BRANCHIAL DYSPLASIA, CLUBFOOT, INGUINAL HERNIA, AND BILIARY ATRESIA NULL 245552 LAMBOTTE SYNDROME MICROCEPHALY, HOLOPROSENCEPHALY, AND INTRAUTERINE GROWTH RETARDATION Number Sign 245570 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME, INCLUDED; LKS, INCLUDED;; CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME, INCLUDED; CSWS, INCLUDED; CSWSS, INCLUDED;; ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT, INCLUDED; RESDAD, INCLUDED; ADRESD, INCLUDED;; BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES, INCLUDED; BECTS, INCLUDED Number Sign 245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY LARON SYNDROME DUE TO POSTRECEPTOR DEFECT;; GROWTH HORMONE INSENSITIVITY DUE TO POSTRECEPTOR DEFECT Number Sign 245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY NULL 245650 LARSEN-LIKE SYNDROME, LETHAL TYPE Number Sign 245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS LOGIC SYNDROME Number Sign 245800 LAURENCE-MOON SYNDROME; LNMS Number Sign 245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY LCAT DEFICIENCY;; NORUM DISEASE Percent 246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT Number Sign 246200 DONOHUE SYNDROME LEPRECHAUNISM INSULIN RECEPTOR, DEFECT IN, INCLUDED Number Sign 246300 LEPROSY, SUSCEPTIBILITY TO, 3; LPRS3 Percent 246400 LETTERER-SIWE DISEASE L-S DISEASE; LESD;; HISTIOCYTOSIS X, ACUTE DISSEMINATED Number Sign 246450 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD HMG-CoA LYASE DEFICIENCY;; HMGCL DEFICIENCY;; HL DEFICIENCY;; HYDROXYMETHYLGLUTARIC ACIDURIA NULL 246470 LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER Caret 246490 MOVED TO 266265 NULL 246500 LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS Asterisk 246530 LEUKOTRIENE C4 SYNTHASE; LTC4S NULL 246550 LICHTENSTEIN SYNDROME NULL 246555 LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY Number Sign 246560 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3 SHSF3;; LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA;; CHROMOSOME 10q24 DUPLICATION SYNDROME NULL 246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME FATCO SYNDROME Asterisk 246600 PANCREATIC LIPASE; PNLIP PL;; LIPASE, PANCREATIC Number Sign 246650 LIPASE DEFICIENCY, COMBINED LIPOPROTEIN LIPASE DEFICIENCY WITH HEPATIC TRIGLYCERIDE LIPASE DEFICIENCY;; LPL AND HTGL DEFICIENCY;; LPL AND HL DEFICIENCY Number Sign 246700 CHYLOMICRON RETENTION DISEASE; CMRD ANDERSON DISEASE; ANDD;; LIPID TRANSPORT DEFECT OF INTESTINE;; HYPOBETALIPOPROTEINEMIA WITH ACCUMULATION OF APOLIPOPROTEIN B-LIKE PROTEIN IN INTESTINAL CELLS Caret 246800 MOVED TO 257220 Number Sign 246900 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD DLD DEFICIENCY;; E3 DEFICIENCY;; LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO;; MAPLE SYRUP URINE DISEASE, TYPE III Number Sign 247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE LIPOID PROTEINOSIS;; URBACH-WIETHE DISEASE;; HYALINOSIS CUTIS ET MUCOSAE NULL 247150 LIP PRINTS Number Sign 247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS MDS CHROMOSOME 17p13.3 DELETION SYNDROME, INCLUDED;; MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED Caret 247400 MOVED TO 210710 NULL 247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME HYPOPARATHYROIDISM-LYMPHEDEMA SYNDROME Number Sign 247420 LUTHERAN NULL RECESSIVE LU (a-b-) PHENOTYPE NULL 247430 LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF Caret 247440 MOVED TO 153100 AND 616843 NULL 247450 LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN NULL 247610 LYMPHOID INTERSTITIAL PNEUMONIA; LIP NULL 247630 LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE NULL 247640 LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL LYMPHOMATOUS ALL NULL 247650 LYMPHOKINE DEFICIENCY Percent 247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS Caret 247900 MOVED TO 238700 NULL 247950 LYSINE MALABSORPTION SYNDROME Asterisk 247980 LIPASE B, LYSOSOMAL ACID; LIPB LYSOSOMAL ACID LIPASE-B NULL 247990 MACDERMOT-WINTER SYNDROME Number Sign 248000 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH NULL 248010 MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE NULL 248100 MACROSOMIA ADIPOSA CONGENITA NULL 248110 MACROSOMIA WITH MICROPHTHALMIA, LETHAL Number Sign 248190 HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT; HOMG5 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT;; HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT;; FHHNC WITH SEVERE OCULAR INVOLVEMENT;; MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA Number Sign 248200 STARGARDT DISEASE 1; STGD1 STGD;; MACULAR DEGENERATION, JUVENILE;; MACULAR DYSTROPHY WITH FLECKS, TYPE 1 FUNDUS FLAVIMACULATUS, INCLUDED; FFM, INCLUDED;; RETINAL DYSTROPHY, EARLY-ONSET SEVERE, INCLUDED Number Sign 248250 HYPOMAGNESEMIA 3, RENAL; HOMG3 HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM;; HYPOMAGNESEMIA, ISOLATED RENAL;; HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING, INCLUDED NULL 248260 MAGNESIUM, ELEVATED RED CELL Number Sign 248300 MAL DE MELEDA; MDM MELEDA DISEASE;; KERATOSIS PALMOPLANTARIS TRANSGREDIENS OF SIEMENS Percent 248310 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL PFBI;; PLASMODIUM FALCIPARUM PARASITEMIA Number Sign 248340 3MC SYNDROME 3; 3MC3 FACIAL CLEFTING SYNDROME, GYPSY TYPE;; MALPUECH FACIAL CLEFTING SYNDROME, FORMERLY NULL 248350 MALOCCLUSION AND SHORT STATURE Number Sign 248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY Number Sign 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA;; CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED Number Sign 248390 TREACHER COLLINS SYNDROME 3; TCS3 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE NULL 248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION Number Sign 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA MARLES SYNDROME Number Sign 248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA ALPHA-MANNOSIDOSIS;; LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY;; ALPHA-MANNOSIDASE B DEFICIENCY Number Sign 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB BETA-MANNOSIDOSIS;; LYSOSOMAL BETA-MANNOSIDASE DEFICIENCY;; BETA-MANNOSIDASE DEFICIENCY Number Sign 248600 MAPLE SYRUP URINE DISEASE; MSUD BRANCHED-CHAIN KETOACIDURIA;; BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY;; BCKD DEFICIENCY;; KETO ACID DECARBOXYLASE DEFICIENCY MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED;; MAPLE SYRUP URINE DISEASE, INTERMEDIATE, INCLUDED;; MAPLE SYRUP URINE DISEASE, INTERMITTENT, INCLUDED;; MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, INCLUDED;; MAPLE SYRUP URINE DISEASE, TYPE IA, INCLUDED; MSUD1A, INCLUDED;; MAPLE SYRUP URINE DISEASE, TYPE IB, INCLUDED; MSUD1B, INCLUDED;; MAPLE SYRUP URINE DISEASE, TYPE II, INCLUDED; MSUD2, INCLUDED Asterisk 248610 DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT; BCATE2;; BRANCHED-CHAIN KETO ACID DEHYDROGENASE COMPLEX, E2 COMPONENT Asterisk 248611 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB E1B Number Sign 248700 MARDEN-WALKER SYNDROME; MWKS MWS Caret 248750 MOVED TO 154700 NULL 248760 MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS NULL 248770 MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL Number Sign 248800 MARINESCO-SJOGREN SYNDROME; MSS Caret 248810 MOVED TO 248800 Number Sign 248900 MAST SYNDROME SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE; SPG21 NULL 248910 CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA NULL 248950 MCDONOUGH SYNDROME Number Sign 249000 MECKEL SYNDROME, TYPE 1; MKS1 MECKEL-GRUBER SYNDROME, TYPE 1;; MECKEL SYNDROME; MKS;; MES;; DYSENCEPHALIA SPLANCHNOCYSTICA;; GRUBER SYNDROME;; MECKEL-GRUBER SYNDROME Number Sign 249100 FAMILIAL MEDITERRANEAN FEVER; FMF FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE;; POLYSEROSITIS, RECURRENT;; POLYSEROSITIS, FAMILIAL PAROXYSMAL Caret 249210 MOVED TO 155310 NULL 249230 MEGAEPIPHYSEAL DWARFISM NULL 249240 MEGALENCEPHALY WITH DYSMYELINATION MEGALENCEPHALY WITH DIFFUSE WHITE MATTER HYPODENSITY Number Sign 249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE); THMD1;; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS;; ROGERS SYNDROME;; THIAMINE-RESPONSIVE ANEMIA SYNDROME;; THIAMINE-RESPONSIVE MYELODYSPLASIA NULL 249300 MEGALOCORNEA Percent 249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME MMR SYNDROME;; NEUHAUSER SYNDROME Number Sign 249400 MELANOSIS, NEUROCUTANEOUS; NCMS NEUROMELANOSIS Number Sign 249420 FRANK-TER HAAR SYNDROME; FTHS TER HAAR SYNDROME;; BORRONE DERMATOCARDIOSKELETAL SYNDROME;; MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY Number Sign 249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1 NULL 249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE NULL 249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE MIETENS-WEBER SYNDROME Percent 249620 OHDO SYNDROME OHDO BLEPHAROPHIMOSIS SYNDROME;; MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH NULL 249630 MENTAL RETARDATION, BUENOS AIRES TYPE MUTCHINICK SYNDROME Percent 249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU DISULFIDURIA, MIXED NULL 249660 MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES NULL 249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION MEXICAN CARDIOMELIC DYSPLASIA Number Sign 249700 LANGER MESOMELIC DYSPLASIA; LMD DYSCHONDROSTEOSIS, HOMOZYGOUS;; MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE NULL 249710 MESOMELIC LIMB SHORTENING AND BOWING Caret 249800 REMOVED FROM DATABASE Number Sign 249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY;; SAPOSIN B DEFICIENCY Number Sign 250100 METACHROMATIC LEUKODYSTROPHY; MLD METACHROMATIC LEUKOENCEPHALOPATHY;; CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM;; SULFATIDE LIPIDOSIS;; ARYLSULFATASE A DEFICIENCY;; ARSA DEFICIENCY;; CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED;; METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED;; METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED;; METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED Percent 250215 METAPHYSEAL ACROSCYPHODYSPLASIA WEDGE-SHAPED EPIPHYSES OF KNEES;; CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES OF KNEES WITH BRACHYDACTYLY Number Sign 250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS SEDAGHATIAN CHONDRODYSPLASIA;; METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL NULL 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE Number Sign 250250 CARTILAGE-HAIR HYPOPLASIA; CHH METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE NULL 250300 METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE Number Sign 250400 METAPHYSEAL DYSPLASIA, SPAHR TYPE; MDST METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE Number Sign 250410 RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA NULL 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS NULL 250450 METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY Number Sign 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS; MDWH CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY;; CARTILAGE-HAIR HYPOPLASIA VARIANT, SKELETAL MANIFESTATIONS ONLY; CHHV NULL 250500 METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA Caret 250600 MOVED TO 156530 Number Sign 250620 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY;; HIBCH DEFICIENCY;; METHACRYLIC ACIDURIA;; METHACRYLIC ACID TOXICITY;; VALINE METABOLIC DEFECT NULL 250650 METHANE PRODUCTION NULL 250700 METHEMOGLOBIN REDUCTASE DEFICIENCY NADPH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY;; TPNH-METHEMOGLOBIN REDUCTASE DEFICIENCY Number Sign 250790 METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA; METAG ISOLATED 17,20-LYASE DEFICIENCY, PURE;; METHEMOGLOBINEMIA TYPE IV, FORMERLY;; METHEMOGLOBINEMIA DUE TO DEFICIENCY OF CYTOCHROME b5, FORMERLY Number Sign 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE NADH-DEPENDENT METHEMOGLOBIN REDUCTASE DEFICIENCY;; NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY;; METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I, INCLUDED;; METHEMOGLOBINEMIA, TYPE II, INCLUDED;; NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I, INCLUDED;; NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II, INCLUDED Number Sign 250850 METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY MAT DEFICIENCY;; MAT I/III DEFICIENCY;; HYPERMETHIONINEMIA, ISOLATED PERSISTENT Percent 250900 METHIONINE MALABSORPTION SYNDROME SMITH-STRANG DISEASE;; OASTHOUSE URINE DISEASE Number Sign 250940 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE; HMAG HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE;; METHYLCOBALAMIN DEFICIENCY, cblG TYPE;; METHIONINE SYNTHASE DEFICIENCY Number Sign 250950 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 MGA, TYPE I; MGA1;; 3-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY;; 3-MG-CoA-HYDRATASE DEFICIENCY NULL 250951 3-METHYLGLUTACONIC ACIDURIA, TYPE IV; MGCA4 MGA, TYPE IV; MGA4 Number Sign 251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MMA DUE TO MCM DEFICIENCY;; METHYLMALONIC ACIDURIA, mut TYPE METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED;; METHYLMALONIC ACIDURIA, mut(-) TYPE, INCLUDED Number Sign 251100 METHYLMALONIC ACIDURIA, cblA TYPE METHYLMALONIC ACIDEMIA, cblA TYPE;; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE Number Sign 251110 METHYLMALONIC ACIDURIA, cblB TYPE METHYLMALONIC ACIDEMIA, cblB TYPE;; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE Number Sign 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY METHYLMALONYL-CoA RACEMASE DEFICIENCY;; METHYLMALONIC ACIDURIA III, FORMERLY METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED Asterisk 251170 MEVALONATE KINASE; MVK NULL 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE Number Sign 251200 MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION;; PREMATURE CHROMOSOME CONDENSATION SYNDROME;; PCC SYNDROME NULL 251220 MICROCEPHALY-CARDIOMYOPATHY Number Sign 251230 MICROCEPHALY-MICROMELIA SYNDROME; MIMIS NULL 251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA NULL 251250 MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES Number Sign 251255 JAWAD SYNDROME; JWDS KELLY SYNDROME;; MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES Number Sign 251260 NIJMEGEN BREAKAGE SYNDROME; NBS ATAXIA-TELANGIECTASIA VARIANT V1; AT-V1;; MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES;; SEEMANOVA SYNDROME II;; NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE;; IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME, INCLUDED; BBS, INCLUDED;; ATAXIA-TELANGIECTASIA VARIANT V2, INCLUDED; AT-V2, INCLUDED Number Sign 251270 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1; MCCRP1 Number Sign 251280 MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS; MISSBC Number Sign 251290 PSEUDO-TORCH SYNDROME 1; PTORCH1 PSEUDO-TORCH SYNDROME; BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA; BLCPMG Number Sign 251300 GALLOWAY-MOWAT SYNDROME 1; GAMOS1 MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME;; GALLOWAY SYNDROME;; NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME;; NEPHROSIS-MICROCEPHALY SYNDROME;; CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES; CAMOS;; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5, FORMERLY; SCAR5, FORMERLY NULL 251400 MICROCOLON Number Sign 251450 DESBUQUOIS DYSPLASIA 1; DBQD1 DESBUQUOIS SYNDROME;; MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION DESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED Caret 251455 MOVED TO 258315 Caret 251500 MOVED TO 600118 NULL 251505 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4 MICROPHTHALMIA WITH COLOBOMATOUS CYST Percent 251600 MICROPHTHALMIA, ISOLATED 1; MCOP1 MCOP;; ANOPHTHALMIA, CLINICAL, ISOLATED;; MICROPHTHALMOS, AUTOSOMAL RECESSIVE NULL 251700 MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES Number Sign 251750 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA Percent 251800 MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS Number Sign 251850 DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2 MICROVILLUS INCLUSION DISEASE; MVID;; MICROVILLUS ATROPHY, CONGENITAL;; DAVIDSON DISEASE;; CONGENITAL FAMILIAL PROTRACTED DIARRHEA WITH ENTEROCYTE BRUSH-BORDER ABNORMALITIES;; INTRACTABLE DIARRHEA OF INFANCY Number Sign 251880 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 Caret 251890 MOVED TO 143450 Number Sign 251900 MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY; MEOAL NULL 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT Number Sign 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS; MMLA Number Sign 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1 MITOCHONDRIAL COMPLEX I DEFICIENCY;; NADH:Q(1) OXIDOREDUCTASE DEFICIENCY;; NADH-COENZYME Q REDUCTASE DEFICIENCY;; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF Number Sign 252011 MITOCHONDRIAL COMPLEX II DEFICIENCY SUCCINATE CoQ REDUCTASE DEFICIENCY Caret 252030 REMOVED FROM DATABASE Percent 252100 MOHR SYNDROME OROFACIODIGITAL SYNDROME II; OFD2;; OFDS II;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE II Number Sign 252150 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A; MOCODA SULFITE OXIDASE, XANTHINE DEHYDROGENASE, AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF Number Sign 252160 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB Caret 252200 MOVED TO 158000 AND 607903 NULL 252250 MONOCYTE CHEMOTACTIC DISORDER Number Sign 252270 MONOSOMY 7 OF BONE MARROW MYELODYSPLASIA AND LEUKEMIA SYNDROME WITH MONOSOMY 7; MLSM7;; CHROMOSOME 7q DELETION NULL 252300 MORQUIO SYNDROME C MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE NULL 252320 MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA Percent 252350 MOYAMOYA DISEASE 1; MYMY1 MOYAMOYA DISEASE; MYMY;; SPONTANEOUS OCCLUSION OF THE CIRCLE OF WILLIS Number Sign 252500 MUCOLIPIDOSIS II ALPHA/BETA MUCOLIPIDOSIS II; ML II;; ML II ALPHA/BETA;; I-CELL DISEASE; ICD Number Sign 252600 MUCOLIPIDOSIS III ALPHA/BETA ML III ALPHA/BETA;; MUCOLIPIDOSIS IIIA; ML IIIA;; MUCOLIPIDOSIS III;; ML III;; PSEUDO-HURLER POLYDYSTROPHY MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED Number Sign 252605 MUCOLIPIDOSIS III GAMMA ML III GAMMA;; MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C;; MUCOLIPIDOSIS IIIC;; ML IIIC;; MUCOLIPIDOSIS III, IRANIAN VARIANT FORM;; MUCOLIPIDOSIS III, VARIANT FORM Number Sign 252650 MUCOLIPIDOSIS IV; ML4 ML IV;; SIALOLIPIDOSIS Number Sign 252700 MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES Asterisk 252800 ALPHA-L-IDURONIDASE; IDUA IDURONIDASE, ALPHA-L Number Sign 252900 MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A MPS IIIA;; SANFILIPPO SYNDROME A;; HEPARAN SULFATE SULFATASE DEFICIENCY;; SULFAMIDASE DEFICIENCY Number Sign 252920 MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B MPS IIIB;; SANFILIPPO SYNDROME B;; N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY;; NAGLU DEFICIENCY Number Sign 252930 MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C MPS IIIC;; SANFILIPPO SYNDROME C;; ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY Number Sign 252940 MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D MPS IIID;; SANFILIPPO SYNDROME D;; N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY Number Sign 253000 MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A MORQUIO SYNDROME A;; MPS IVA;; MORQUIO A DISEASE;; GALACTOSAMINE-6-SULFATASE DEFICIENCY;; GALNS DEFICIENCY Number Sign 253010 MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B MORQUIO SYNDROME B;; MPS IVB Number Sign 253200 MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 MPS VI;; MAROTEAUX-LAMY SYNDROME;; ARYLSULFATASE B DEFICIENCY;; ARSB DEFICIENCY;; N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY Number Sign 253220 MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 MPS VII;; SLY SYNDROME;; BETA-GLUCURONIDASE DEFICIENCY;; GUSB DEFICIENCY Caret 253230 MOVED TO 601492 Percent 253240 MUCUS INSPISSATION OF RESPIRATORY TRACT Number Sign 253250 MULIBREY NANISM MUSCLE-LIVER-BRAIN-EYE NANISM;; PERICARDIAL CONSTRICTION AND GROWTH FAILURE;; PERHEENTUPA SYNDROME Number Sign 253260 BIOTINIDASE DEFICIENCY BTD DEFICIENCY;; MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET;; MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET Number Sign 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS DEFICIENCY;; MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM;; MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET Number Sign 253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED Number Sign 253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE Number Sign 253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 SMA I;; SMA, INFANTILE ACUTE FORM;; MUSCULAR ATROPHY, INFANTILE;; WERDNIG-HOFFMANN DISEASE Number Sign 253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1 LCCS;; MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE NULL 253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM CHUDLEY SYNDROME Number Sign 253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 SMA III;; MUSCULAR ATROPHY, JUVENILE;; KUGELBERG-WELANDER SYNDROME; KWS;; SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM Caret 253500 REMOVED FROM DATABASE Number Sign 253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 SMA II;; MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE;; MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM NULL 253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY Number Sign 253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2; LGMD2;; MUSCULAR DYSTROPHY, PELVOFEMORAL;; LEYDEN-MOEBIUS MUSCULAR DYSTROPHY;; CALPAINOPATHY MYOSITIS, EOSINOPHILIC, INCLUDED Number Sign 253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 3; LGMD3 Number Sign 253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C;; MUSCULAR DYSTROPHY, DUCHENNE-LIKE;; DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1;; DMDA;; ADHALIN DEFICIENCY, SECONDARY;; SARCOGLYCAN, GAMMA, DEFICIENCY OF;; SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICAN TYPE; SCARMD;; MAGHREBIAN MYOPATHY Number Sign 253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD;; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED Caret 253850 MOVED TO 602771 Percent 253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS NULL 254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM Number Sign 254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD;; MUSCULAR DYSTROPHY, SCLEROATONIC;; ULLRICH DISEASE;; ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 22; LGMDR22 NULL 254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION Number Sign 254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H;; MUSCULAR DYSTROPHY, HUTTERITE TYPE;; SARCOTUBULAR MYOPATHY NULL 254120 MUSCULAR HYPERTONIA, LETHAL Number Sign 254130 MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 MIYOSHI MYOPATHY;; MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL RECESSIVE Percent 254150 MUSK, INABILITY TO SMELL NULL 254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS Caret 254195 MOVED TO 608931 NULL 254200 MYASTHENIA GRAVIS; MG Number Sign 254210 MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA; CMSEA;; CONGENITAL MYASTHENIC SYNDROME TYPE Ia2, FORMERLY; CMS1A2, FORMERLY;; CMS Ia2, FORMERLY;; MYASTHENIA, FAMILIAL INFANTILE, FORMERLY; FIM, FORMERLY;; MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2, FORMERLY; FIMG2, FORMERLY Number Sign 254300 MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 MYASTHENIA, LIMB-GIRDLE, FAMILIAL, FORMERLY; LGM, FORMERLY;; CONGENITAL MYASTHENIC SYNDROME TYPE Ib, FORMERLY; CMS1B, FORMERLY;; CMS Ib, FORMERLY;; MYASTHENIC MYOPATHY, FORMERLY NULL 254400 MYCOSIS FUNGOIDES Number Sign 254450 MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED; MMM, INCLUDED Number Sign 254500 MYELOMA, MULTIPLE AMYLOIDOSIS, SYSTEMIC, INCLUDED; AL, INCLUDED;; AL AMYLOIDOSIS, INCLUDED Number Sign 254600 MYELOPEROXIDASE DEFICIENCY; MPOD MPO DEFICIENCY NULL 254700 MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE Number Sign 254770 EPILEPSY, MYOCLONIC JUVENILE; EJM MYOCLONIC EPILEPSY, JUVENILE; JME;; PETIT MAL, IMPULSIVE;; JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED; EJM1, INCLUDED Number Sign 254780 MYOCLONIC EPILEPSY OF LAFORA MELF;; LAFORA DISEASE;; LAFORA BODY DISEASE; LBD;; EPILEPSY, PROGRESSIVE MYOCLONIC, 2A; EPM2A;; EPM2 EPILEPSY, PROGRESSIVE MYOCLONIC, 2B, INCLUDED; EPM2B, INCLUDED Number Sign 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG ULD;; EPILEPSY, PROGRESSIVE MYOCLONIC, 1A; EPM1A;; EPILEPSY, PROGRESSIVE MYOCLONIC, 1; EPM1;; PROGRESSIVE MYOCLONIC EPILEPSY; PME;; BALTIC MYOCLONIC EPILEPSY Number Sign 254900 EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF;; MYOCLONUS-NEPHROPATHY SYNDROME Number Sign 254940 CAREY-FINEMAN-ZITER SYNDROME; CFZS MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE NULL 254950 MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA NULL 254960 MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT Number Sign 255100 LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD Number Sign 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC;; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET;; CPT II DEFICIENCY, MYOPATHIC;; CPT2 DEFICIENCY, LATE-ONSET Number Sign 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY;; CPT I DEFICIENCY;; CPT DEFICIENCY, HEPATIC, TYPE I Number Sign 255125 MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE;; MYOPATHY WITH DEFICIENCY OF SUCCINATE DEHYDROGENASE AND ACONITASE;; MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS NULL 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA Number Sign 255160 MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE Caret 255170 MOVED TO 603280 Number Sign 255200 MYOPATHY, CENTRONUCLEAR, 2; CNM2 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE;; MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE Percent 255300 MYOPATHY, CONGENITAL BATTEN-TURNER CONGENITAL MYOPATHY Number Sign 255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL; CFTDM Number Sign 255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA MINICORE MYOPATHY;; MULTICORE MYOPATHY;; MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA;; MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA Percent 255500 MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18 Number Sign 255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE MYOPATHY, MYOSCLEROTIC;; MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL Number Sign 255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE BECKER DISEASE;; MYOTONIA, GENERALIZED NULL 255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION Number Sign 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 SCHWARTZ-JAMPEL SYNDROME; SJS;; MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES;; SCHWARTZ-JAMPEL-ABERFELD SYNDROME;; SJA SYNDROME;; CHONDRODYSTROPHIC MYOTONIA NULL 255900 MYXEDEMA Number Sign 255960 MYXOMA, INTRACARDIAC ATRIAL MYXOMA, FAMILIAL Caret 255980 MOVED TO 301026 NULL 255990 NATHALIE SYNDROME Number Sign 255995 MYOPATHY, CONGENITAL, BAILEY-BLOCH; MYPBB NATIVE AMERICAN MYOPATHY; NAM;; MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA Number Sign 256000 LEIGH SYNDROME; LS NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNE LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED NULL 256020 NAIL-PATELLA-LIKE RENAL DISEASE GLOMERULAR BASEMENT MEMBRANE DISEASE, NAIL-PATELLA SYNDROME TYPE Number Sign 256030 NEMALINE MYOPATHY 2; NEM2 Number Sign 256040 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME; CANDLE;; NAKAJO-NISHIMURA SYNDROME; NKJO;; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY;; JMP SYNDROME;; AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, INCLUDED Number Sign 256050 ATELOSTEOGENESIS, TYPE II; AO2 AOII;; NEONATAL OSSEOUS DYSPLASIA I DE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED Number Sign 256100 NEPHRONOPHTHISIS 1; NPHP1 NEPHRONOPHTHISIS, FAMILIAL JUVENILE;; NPH1 NULL 256120 NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM NULL 256150 NEPHROSIALIDOSIS NULL 256200 NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS Number Sign 256300 NEPHROTIC SYNDROME, TYPE 1; NPHS1 FINNISH CONGENITAL NEPHROSIS; CNF;; NEPHROTIC SYNDROME, CONGENITAL Caret 256340 MOVED TO 146255 Caret 256350 MOVED TO 600995 Number Sign 256370 NEPHROTIC SYNDROME, TYPE 4; NPHS4 Number Sign 256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHHI;; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY;; HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA;; NESIDIOBLASTOSIS OF PANCREAS;; HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS;; HYPERINSULINISM, CONGENITAL Number Sign 256500 NETHERTON SYNDROME; NETH ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE;; NS;; NETHERTON DISEASE;; COMEL-NETHERTON SYNDROME Number Sign 256520 NEU-LAXOVA SYNDROME 1; NLS1 NEU-LAXOVA SYNDROME; NLS Number Sign 256540 GALACTOSIALIDOSIS; GSL GOLDBERG SYNDROME;; NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY;; NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION; NGBE;; LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY;; CATHEPSIN A DEFICIENCY;; PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY;; PPCA DEFICIENCY Number Sign 256550 NEURAMINIDASE DEFICIENCY SIALIDOSIS, TYPE II;; MUCOLIPIDOSIS I;; ML I;; LIPOMUCOPOLYSACCHARIDOSIS;; SIALIDASE DEFICIENCY;; GLYCOPROTEIN NEURAMINIDASE DEFICIENCY;; NEUG DEFICIENCY;; NEURAMINIDASE 1 DEFICIENCY;; NEU DEFICIENCY;; NEU1 DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED;; CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED;; MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED Number Sign 256600 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A NEURODEGENERATION, PLA2G6-ASSOCIATED; PLAN;; NEUROAXONAL DYSTROPHY, INFANTILE; INAD; INAD1;; SEITELBERGER DISEASE NULL 256690 NEUROFACIODIGITORENAL SYNDROME NFDR SYNDROME Number Sign 256700 NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1 NEUROBLASTOMA, SUSCEPTIBILITY TO, INCLUDED Number Sign 256710 ELEJALDE DISEASE NEUROECTODERMAL MELANOLYSOSOMAL DISEASE NULL 256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY Number Sign 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED; INCL, INCLUDED;; SANTAVUORI DISEASE, INCLUDED;; SANTAVUORI-HALTIA DISEASE, INCLUDED Number Sign 256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED;; FINNISH vLINCL, INCLUDED Number Sign 256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS;; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV; HSAN4;; HSAN IV;; FAMILIAL DYSAUTONOMIA, TYPE II Number Sign 256810 MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6 NAVAJO NEUROHEPATOPATHY; NNH;; NAVAJO NEUROPATHY; NN NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED Number Sign 256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE Number Sign 256850 GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1 GAN Caret 256851 MOVED TO 256850 Percent 256855 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE HMSN WITH EXCESSIVE MYELIN OUTFOLDING, AUTOSOMAL RECESSIVE;; CHARCOT-MARIE-TOOTH DISEASE WITH EXCESSIVE MYELIN FOLDING, AUTOSOMAL RECESSIVE NULL 256860 NEUROPATHY, HEREDITARY SENSORY, ATYPICAL NULL 256870 NEUROPATHY, PAINFUL NULL 257000 NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES Caret 257050 MOVED TO 257220 NULL 257100 NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA Percent 257150 NEUTROPHIL ACTIN DYSFUNCTION; NAD Number Sign 257200 NIEMANN-PICK DISEASE, TYPE A SPHINGOMYELIN LIPIDOSIS;; SPHINGOMYELINASE DEFICIENCY NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED Number Sign 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1 NIEMANN-PICK DISEASE, TYPE C; NPC;; NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK;; NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM;; NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM;; NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY;; NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D, INCLUDED;; NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE, INCLUDED Caret 257250 MOVED TO 257220 Number Sign 257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE;; CSNB, COMPLETE, AUTOSOMAL RECESSIVE Number Sign 257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 MVA SYNDROME Number Sign 257320 LISSENCEPHALY 2; LIS2 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE;; NORMAN-ROBERTS SYNDROME NULL 257350 NUCHAL BLEB, FAMILIAL CYSTIC HYGROMA, FETAL; FCH NULL 257400 NYSTAGMUS, CONGENITAL, AUTOSOMAL RECESSIVE NULL 257500 OBESITY-HYPOVENTILATION SYNDROME PICKWICKIAN SYNDROME Percent 257550 OCULAR MOTOR APRAXIA OCULOMOTOR APRAXIA, COGAN TYPE; COMA;; SACCADE INITIATION FAILURE, CONGENITAL Percent 257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY NULL 257790 OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS Percent 257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION CROSS SYNDROME;; KRAMER SYNDROME Number Sign 257850 OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE ODDD, AUTOSOMAL RECESSIVE;; OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE;; ODOD, AUTOSOMAL RECESSIVE Percent 257910 OCULOPALATOCEREBRAL SYNDROME OCULOPALATOCEREBRAL DWARFISM;; OPC DWARFISM Number Sign 257920 3MC SYNDROME 1; 3MC1 OCULOPALATOSKELETAL SYNDROME;; CRANIOSYNOSTOSIS WITH LID ANOMALIES;; MICHELS SYNDROME, FORMERLY Caret 257950 MOVED TO 164300 NULL 257960 OCULOTRICHODYSPLASIA; OTD Percent 257970 OCULORENOCEREBELLAR SYNDROME ORC SYNDROME Number Sign 257980 ODONTOONYCHODERMAL DYSPLASIA; OODD NULL 258040 OEIS COMPLEX OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS Number Sign 258100 OGUCHI DISEASE 1 NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1; CSNBO1 Caret 258120 MOVED TO 271245 Percent 258150 SPERMATOGENIC FAILURE 1; SPGF1 OLIGOSYNAPTIC INFERTILITY;; OLIGOCHIASMATIC INFERTILITY NULL 258200 OLIVER SYNDROME POSTAXIAL POLYDACTYLY AND MENTAL RETARDATION Percent 258300 OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE OPCA II, FICKLER-WINKLER TYPE Number Sign 258315 OMODYSPLASIA 1; OMOD1 OMODYSPLASIA, GENERALIZED FORM;; OMODYSPLASIA, AUTOSOMAL RECESSIVE;; MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS NULL 258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL CLEFT PALATE-OMPHALOCELE SYNDROME, LETHAL Percent 258360 ONYCHOTRICHODYSPLASIA AND NEUTROPENIA Percent 258400 OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS Number Sign 258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 NULL 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA Number Sign 258480 OPSISMODYSPLASIA; OPSMD Percent 258500 OPTIC ATROPHY 6; OPA6 OPTIC ATROPHY, CONGENITAL OR EARLY INFANTILE, AUTOSOMAL RECESSIVE Number Sign 258501 3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3 MGA, TYPE III; MGA3;; OPTIC ATROPHY PLUS SYNDROME;; OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGIA;; IRAQI-JEWISH 'OPTIC ATROPHY PLUS';; COSTEFF SYNDROME;; OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE;; OPA3, AUTOSOMAL RECESSIVE NULL 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE Number Sign 258660 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO NAION, SUSCEPTIBILITY TO;; OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO Percent 258700 OPTICOCOCHLEODENTATE DEGENERATION NULL 258800 ORAL SENSIBILITY, DISTURBANCE OF NULL 258840 ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS Percent 258850 OROFACIODIGITAL SYNDROME III; OFD3 OFDS III;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE III;; SUGARMAN SYNDROME Number Sign 258860 OROFACIODIGITAL SYNDROME IV; OFD4 OFDS IV;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV;; OFD SYNDROME WITH TIBIAL DEFECTS;; MOHR-MAJEWSKI SYNDROME;; OFD SYNDROME, BARAITSER-BURN TYPE;; BARAITSER-BURN SYNDROME Percent 258865 OROFACIODIGITAL SYNDROME IX; OFD9 OFDS IX;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE IX;; ORAL-FACIAL-DIGITAL SYNDROME WITH RETINAL ABNORMALITIES;; OROFACIODIGITAL SYNDROME WITH RETINAL ABNORMALITIES Number Sign 258870 GYRATE ATROPHY OF CHOROID AND RETINA; GACR HYPERORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA; HOGA;; GYRATE ATROPHY;; ORNITHINE AMINOTRANSFERASE DEFICIENCY;; OAT DEFICIENCY;; ORNITHINE KETO ACID AMINOTRANSFERASE DEFICIENCY;; OKT DEFICIENCY;; ORNITHINE-DELTA-AMINOTRANSFERASE DEFICIENCY Number Sign 258900 OROTIC ACIDURIA OROTIC ACIDURIA I;; OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;; OPRT AND ODC DEFICIENCY;; OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY;; URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY;; UMP SYNTHASE DEFICIENCY;; UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA, INCLUDED; OAWA, INCLUDED Caret 258920 MOVED TO 258900 Number Sign 259050 PRIMROSE SYNDROME; PRIMS OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES Number Sign 259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 PHO, AUTOSOMAL RECESSIVE;; PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE;; PDP, AUTOSOMAL RECESSIVE;; TOURAINE-SOLENTE-GOLE SYNDROME CRANIOOSTEOARTHROPATHY, INCLUDED; COA, INCLUDED;; FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD, INCLUDED;; CURRARINO IDIOPATHIC OSTEOARTHROPATHY, INCLUDED; CIO, INCLUDED NULL 259200 BLOUNT DISEASE, ADOLESCENT OSTEOCHONDROSIS DEFORMANS TIBIAE, ADOLESCENT;; TIBIA VARA, ADOLESCENT Percent 259250 OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE NULL 259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI Caret 259400 MOVED TO 166210 NULL 259410 OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS Number Sign 259420 OSTEOGENESIS IMPERFECTA, TYPE III; OI3 OI, TYPE III;; OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE Number Sign 259440 OSTEOGENESIS IMPERFECTA, TYPE IX; OI9 OI, TYPE IX Number Sign 259450 BRUCK SYNDROME 1; BRKS1 KUSKOKWIM DISEASE;; ARTHROGRYPOSIS-LIKE DISORDER Number Sign 259500 OSTEOGENIC SARCOMA OSTEOSARCOMA; OSRC NULL 259550 OSTEOID OSTEOMA Number Sign 259600 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA TORG SYNDROME;; NODULOSIS-ARTHROPATHY-OSTEOLYSIS SYNDROME;; NAO SYNDROME;; AL-AQEEL SEWAIRI SYNDROME;; OSTEOLYSIS, HEREDITARY MULTICENTRIC;; TORG-WINCHESTER SYNDROME, FORMERLY NULL 259610 OSTEOLYSIS SYNDROME, RECESSIVE OSTEOLYSIS, DISTAL, WITH SHORT STATURE, MENTAL RETARDATION, AND CHARACTERISTIC FACIAL APPEARANCE NULL 259650 OSTEOMA OF MIDDLE EAR NULL 259660 OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION NULL 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO OSTEOMYELITIS, CHRONIC MULTIFOCAL; CMO NULL 259690 OSTEOPENIA AND SPARSE HAIR Number Sign 259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 OSTEOPETROSIS, INFANTILE MALIGNANT 1;; MARBLE BONES, AUTOSOMAL RECESSIVE;; ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE Number Sign 259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 OSTEOPETROSIS, OSTEOCLAST-POOR;; OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM Number Sign 259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 OSTEOPETROSIS, INFANTILE MALIGNANT 3 Number Sign 259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS;; CARBONIC ANHYDRASE II DEFICIENCY;; GUIBAUD-VAINSEL SYNDROME;; MARBLE BRAIN DISEASE NULL 259750 OSTEOPOROSIS, JUVENILE IDIOPATHIC JUVENILE OSTEOPOROSIS; IJO Number Sign 259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG OPS;; OSTEOGENESIS IMPERFECTA, OCULAR FORM Number Sign 259775 RAINE SYNDROME; RNS OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL Percent 259780 OTOONYCHOPERONEAL SYNDROME Number Sign 259900 HYPEROXALURIA, PRIMARY, TYPE I; HP1 OXALOSIS I;; GLYCOLIC ACIDURIA;; ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;; PEROXISOMAL ALANINE:GLYOXYLATE AMINOTRANSFERASE DEFICIENCY;; HEPATIC AGT DEFICIENCY;; SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY Number Sign 260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2 OXALOSIS II;; GLYCERIC ACIDURIA;; GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY;; D-GLYCERATE DEHYDROGENASE DEFICIENCY Number Sign 260005 5-OXOPROLINASE DEFICIENCY; OPLAHD OXOPROLINURIA DUE TO 5-OXOPROLINASE DEFICIENCY NULL 260100 PA POLYMORPHISM OF ALPHA-2-GLOBULIN ALPHA-2-GLOBULIN POLYMORPHISM PA NULL 260130 PACHYONYCHIA CONGENITA, AUTOSOMAL RECESSIVE NULL 260150 PALANT CLEFT PALATE SYNDROME NULL 260200 PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA Number Sign 260300 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15 PARKINSONIAN-PYRAMIDAL SYNDROME; PKPS;; PALLIDOPYRAMIDAL SYNDROME;; PALLIDO-PYRAMIDAL SYNDROME Number Sign 260350 PANCREATIC CANCER PANCREATIC CARCINOMA;; PANCREATIC ACINAR CARCINOMA Number Sign 260370 PANCREATIC AGENESIS 1; PAGEN1 PAGEN;; PANCREATIC HYPOPLASIA, CONGENITAL Number Sign 260400 SHWACHMAN-DIAMOND SYNDROME 1; SDS1 SHWACHMAN-DIAMOND SYNDROME; SDS;; PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION;; SHWACHMAN-BODIAN SYNDROME;; LIPOMATOSIS OF PANCREAS, CONGENITAL Caret 260450 MOVED TO 243800 NULL 260470 PANENCEPHALITIS, SUBACUTE SCLEROSING SUBACUTE SCLEROSING PANENCEPHALITIS; SSPE NULL 260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX Caret 260490 MOVED TO 174800 Number Sign 260500 PAPILLOMA OF CHOROID PLEXUS; CPP CHOROID PLEXUS PAPILLOMA CHOROID PLEXUS CARCINOMA, INCLUDED; CPC, INCLUDED NULL 260530 PARANA HARD-SKIN SYNDROME Number Sign 260540 PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL, INCLUDED;; STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL, INCLUDED NULL 260555 PARTINGTON-ANDERSON SYNDROME Number Sign 260565 PEHO SYNDROME; PEHO PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY;; INFANTILE CEREBELLOOPTIC ATROPHY NULL 260570 PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN Number Sign 260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3 NULL 260650 PELLAGRA-LIKE SYNDROME Number Sign 260660 COUSIN SYNDROME CRANIOFACIAL DYSMORPHISM, HYPOPLASIA OF SCAPULA AND PELVIS, AND SHORT STATURE;; PELVISCAPULAR DYSPLASIA Number Sign 260800 PENTOSURIA; PNTSU L-XYLULOSURIA;; XYLITOL DEHYDROGENASE DEFICIENCY;; L-XYLULOSE REDUCTASE DEFICIENCY NULL 260900 PERICARDIAL EFFUSION, CHRONIC CHOLESTEROL PERICARDITIS NULL 260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL DISSECTING CELLULITIS OF THE SCALP Number Sign 260920 HYPER-IgD SYNDROME; HIDS HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME;; PERIODIC FEVER, DUTCH TYPE NULL 260950 PERIODONTITIS, CHRONIC PERIODONTITIS, ADULT NULL 260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN Caret 260980 MOVED TO 300388 Number Sign 261000 INTRINSIC FACTOR DEFICIENCY; IFD PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR Number Sign 261100 MEGALOBLASTIC ANEMIA 1 MGA1;; IMERSLUND-GRASBECK SYNDROME; IGS;; PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA;; ENTEROCYTE COBALAMIN MALABSORPTION;; ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF NULL 261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF Number Sign 261500 EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD EOSINOPHIL PEROXIDASE DEFICIENCY, PARTIAL;; PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS;; PRESENTEY ANOMALY Caret 261510 MOVED TO 261515 Number Sign 261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY;; DBP DEFICIENCY;; PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY;; PBFE DEFICIENCY Number Sign 261540 PETERS-PLUS SYNDROME; PTRPLS KRAUSE-KIVLIN SYNDROME;; PETERS ANOMALY WITH SHORT-LIMB DWARFISM Number Sign 261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS PSEUDOHERMAPHRODITISM, MALE INTERNAL;; HERNIA UTERI INGUINALE;; PERSISTENT OVIDUCT SYNDROME;; FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE NULL 261560 PFEIFFER-PALM-TELLER SYNDROME PPT SYNDROME;; SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE NULL 261575 PHAVER SYNDROME NULL 261590 PHENFORMIN 4-HYDROXYLATION Number Sign 261600 PHENYLKETONURIA; PKU PHENYLALANINE HYDROXYLASE DEFICIENCY;; PAH DEFICIENCY;; OLIGOPHRENIA PHENYLPYRUVICA;; FOLLING DISEASE HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED;; HPA, NON-PKU MILD, INCLUDED;; PHENYLKETONURIA, MATERNAL, INCLUDED Number Sign 261630 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY;; DIHYDROPTERIDINE REDUCTASE DEFICIENCY;; DHPR DEFICIENCY;; QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY;; QDPR DEFICIENCY Number Sign 261640 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTS DEFICIENCY;; 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY;; PTS DEFICIENCY HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED Percent 261650 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM PCK2 DEFICIENCY;; PEPCK2 DEFICIENCY Caret 261660 REMOVED FROM DATABASE Number Sign 261670 GLYCOGEN STORAGE DISEASE X; GSD10 GSD X;; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF;; MYOPATHY DUE TO PHOSPHOGLYCERATE MUTASE DEFICIENCY;; PGAMM DEFICIENCY Number Sign 261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC; PCKDC PCK1 DEFICIENCY, CYTOSOLIC;; PEPCK DEFICIENCY, CYTOSOLIC Number Sign 261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL PHOSPHORYLASE KINASE DEFICIENCY OF HEART;; GLYCOGEN STORAGE DISEASE OF HEART Number Sign 261750 GLYCOGEN STORAGE DISEASE IXb; GSD9B GSD IXb;; GLYCOGENOSIS OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE;; PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE Percent 261800 PIERRE ROBIN SYNDROME; PRBNS GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATE;; PIERRE ROBIN SEQUENCE Percent 261900 PILI TORTI, EARLY-ONSET PILI TORTI, RONCHESE TYPE;; TWISTED HAIR Number Sign 261990 ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY; HJDD PILI TORTI AND DEVELOPMENTAL DELAY Number Sign 262000 BJORNSTAD SYNDROME; BJS PILI TORTI AND NERVE DEAFNESS;; PTD NULL 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS TRICHODENTAL DYSPLASIA WITH HYPEROPIA Number Sign 262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES RABSON-MENDENHALL SYNDROME;; MENDENHALL SYNDROME Number Sign 262300 ACHROMATOPSIA 3; ACHM3 PINGELAPESE BLINDNESS;; TOTAL COLORBLINDNESS WITH MYOPIA;; ACHROMATOPSIA WITH MYOPIA;; ACHM1, FORMERLY;; ROD MONOCHROMATISM 1, FORMERLY;; ROD MONOCHROMACY 1, FORMERLY; RMCH1, FORMERLY Caret 262350 MOVED TO 194190 Number Sign 262400 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A IGHD IA;; GROWTH HORMONE DEFICIENCY, ISOLATED, AUTOSOMAL RECESSIVE;; ILLIG-TYPE GROWTH HORMONE DEFICIENCY;; PRIMORDIAL DWARFISM;; SEXUAL ATELEIOTIC DWARFISM;; PITUITARY DWARFISM I Number Sign 262500 LARON SYNDROME GROWTH HORMONE INSENSITIVITY SYNDROME;; PITUITARY DWARFISM II;; GROWTH HORMONE RECEPTOR DEFICIENCY Number Sign 262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 PANHYPOPITUITARISM;; ATELIOTIC DWARFISM WITH HYPOGONADISM;; PITUITARY DWARFISM III;; HANHART DWARFISM Number Sign 262650 KOWARSKI SYNDROME BIODEFECTIVE GROWTH HORMONE;; PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN Number Sign 262700 PITUITARY HORMONE DEFICIENCY, COMBINED, 4; CPHD4 PITUITARY HORMONE DEFICIENCY, COMBINED, WITH OR WITHOUT CEREBELLAR DEFECTS;; SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA NULL 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA Caret 262780 MOVED TO 107910 NULL 262800 PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF Number Sign 262850 ALPHA-2-PLASMIN INHIBITOR DEFICIENCY ANTIPLASMIN DEFICIENCY;; PLASMIN INHIBITOR DEFICIENCY NULL 262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT VIENNA-HIETZING DEFECT Number Sign 262890 SCOTT SYNDROME; SCTS BLEEDING DISORDER, PLATELET-TYPE, 7; BDPLT7;; BLEEDING ABNORMALITY DUE TO DEFICIENCY OF PLATELET BINDING OF FACTOR X;; PROTHROMBIN CONVERSION DEFECT, FAMILIAL;; PROTHROMBIN CONSUMPTION DEFICIENCY;; PROTHROMBIN CONSUMPTION INHIBITOR, FAMILIAL NULL 262900 PLEOCONIAL MYOPATHY WITH SALT CRAVING Percent 263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP PNEUMONITIS, DESQUAMATIVE INTERSTITIAL, FAMILIAL;; PNEUMONIA, DESQUAMATIVE INTERSTITIAL, FAMILIAL;; INTERSTITIAL LUNG DISEASE, DESQUAMATIVE;; ILD, DESQUAMATIVE NULL 263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS Number Sign 263200 POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4 POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE;; POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD;; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1;; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I;; PKD3, FORMERLY HEPATIC FIBROSIS, CONGENITAL, INCLUDED Number Sign 263210 GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA Number Sign 263300 POLYCYTHEMIA VERA; PV POLYCYTHEMIA RUBRA VERA; PRV Number Sign 263400 ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2 ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN;; POLYCYTHEMIA, VHL-DEPENDENT;; POLYCYTHEMIA, CHUVASH TYPE Percent 263450 POLYDACTYLY, POSTAXIAL, TYPE A5; PAPA5 Caret 263510 MOVED TO 613091 Number Sign 263520 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II;; SRPS, TYPE II;; MAJEWSKI SYNDROME;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA; SRPS2A;; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II Caret 263530 MOVED TO 613091 NULL 263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES NULL 263550 POLYMYOCLONUS, INFANTILE Caret 263560 MOVED TO 214400 Number Sign 263570 POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM; APBN POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD NULL 263600 POLYSACCHARIDE, STORAGE OF UNUSUAL NULL 263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC LACTOGEN RECEPTOR DEFECT OF CHORION Caret 263620 MOVED TO 240300 Percent 263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION BONNEAU SYNDROME Number Sign 263650 BARTSOCAS-PAPAS SYNDROME; BPS POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE;; PTERYGIUM, POPLITEAL, LETHAL TYPE;; MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE Number Sign 263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC; CEP GUNTHER DISEASE;; UROPORPHYRINOGEN III SYNTHASE DEFICIENCY;; UROS DEFICIENCY Number Sign 263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS MILLER SYNDROME;; GENEE-WIEDEMANN SYNDROME Number Sign 263800 GITELMAN SYNDROME; GTLMNS HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA;; POTASSIUM AND MAGNESIUM DEPLETION NULL 264010 PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY URBAN-ROGERS-MEYER SYNDROME NULL 264050 PRENATAL BOWING NULL 264060 PREPAPILLARY VASCULAR LOOPS PRERETINAL VASCULAR LOOPS Number Sign 264070 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY;; HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA;; CADH DEFICIENCY;; PCBD DEFICIENCY NULL 264080 PROGESTERONE RESISTANCE PSEUDOCORPUS LUTEUM INSUFFICIENCY Number Sign 264090 WIEDEMANN-RAUTENSTRAUCH SYNDROME; WDRTS PROGEROID SYNDROME, NEONATAL NULL 264110 PROLACTIN DEFICIENCY, ISOLATED NULL 264120 PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES PRL DEFICIENCY WITH OBESITY AND ENLARGED TESTES NULL 264140 PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS Caret 264150 MOVED TO 177170 Caret 264160 MOVED TO 177170 NULL 264180 PSEUDODIASTROPHIC DYSPLASIA Caret 264200 MOVED TO 221900 Percent 264270 PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES Number Sign 264300 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY 17-KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS;; 17-KSR DEFICIENCY;; NEUTRAL 17-BETA-HYDROXYSTEROID OXIDOREDUCTASE DEFICIENCY;; PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARY SYNDROME DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED Number Sign 264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1B PHA I, AUTOSOMAL RECESSIVE NULL 264420 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM PFD, LAVIA TYPE;; PFD, FINNISH TYPE Caret 264450 MOVED TO 190685 Number Sign 264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY;; PSEUDONEONATAL ADRENOLEUKODYSTROPHY NULL 264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES ACROOTOOCULAR SYNDROME;; AOO SYNDROME NULL 264480 PSEUDOTRISOMY 13 SYNDROME HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME NULL 264500 PSEUDOURIDINURIA AND MENTAL DEFECT Number Sign 264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY;; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 MICROPENIS, INCLUDED Number Sign 264700 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A VITAMIN D-DEPENDENT RICKETS, TYPE 1A;; 1-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;; 25-HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY;; 1-ALPHA-HYDROXYLASE DEFICIENCY;; VITAMIN D DEPENDENCY, TYPE 1; VDD1;; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; PDDR1A;; PDDR IA Number Sign 264800 PSEUDOXANTHOMA ELASTICUM; PXE GRONBLAD-STRANDBERG SYNDROME PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED;; PXE, MODIFIER OF SEVERITY OF, INCLUDED Caret 264810 REMOVED FROM DATABASE Asterisk 264900 COAGULATION FACTOR XI; F11 FACTOR XI Number Sign 265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS ESCOBAR SYNDROME;; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE;; PTERYGIUM SYNDROME;; MULTIPLE PTERYGIUM SYNDROME;; PTERYGIUM COLLI SYNDROME;; PTERYGIUM UNIVERSALE Number Sign 265050 3MC SYNDROME 2; 3MC2 PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA;; OCULO-SKELETAL-ABDOMINAL SYNDROME;; OSA SYNDROME;; CARNEVALE SYNDROME, FORMERLY Number Sign 265100 PULMONARY ALVEOLAR MICROLITHIASIS Number Sign 265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1 PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1;; INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY;; INTERSTITIAL LUNG DISEASE, NONSPECIFIC, DUE TO SURFACTANT PROTEIN B DEFICIENCY NULL 265140 PULMONARY ARTERIOVENOUS FISTULAS NULL 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM NULL 265200 PULMONARY BULLAE CAUSING PNEUMOTHORAX Percent 265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL LYMPHANGIOMATOSIS, PULMONARY;; PULMONARY CYSTIC LYMPHANGIECTASIS Number Sign 265380 ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES NULL 265400 PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE NULL 265430 PULMONARY HYPOPLASIA, PRIMARY LUNG AGENESIS Number Sign 265450 PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1 PVOD NULL 265500 PULMONIC STENOSIS NULL 265600 PULMONIC STENOSIS AND CONGENITAL NEPHROSIS Number Sign 265800 PYCNODYSOSTOSIS PYKNODYSOSTOSIS; PKND;; PYCD Percent 265850 PYGMY PYGMY, AFRICAN NULL 265880 PYKNOACHONDROGENESIS Number Sign 265900 PYLE DISEASE; PYL METAPHYSEAL DYSPLASIA Percent 265950 PYLORIC ATRESIA Number Sign 266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD PYRIDOXINE-DEPENDENT EPILEPSY; PDE;; PYRIDOXINE DEPENDENCY WITH SEIZURES;; AASA DEHYDROGENASE DEFICIENCY Number Sign 266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY;; PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO;; HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY;; P5N DEFICIENCY;; UMPH1 DEFICIENCY Number Sign 266130 GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD 5-OXOPROLINURIA;; PYROGLUTAMIC ACIDURIA Number Sign 266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP Number Sign 266150 PYRUVATE CARBOXYLASE DEFICIENCY PC DEFICIENCY;; ATAXIA WITH LACTIC ACIDOSIS II;; LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY;; LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY Number Sign 266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE;; PK DEFICIENCY Percent 266250 RADICULONEUROPATHY, FATAL NEONATAL NULL 266255 RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA Number Sign 266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C CDG IIc; CDGIIc;; LEUKOCYTE ADHESION DEFICIENCY, TYPE II; LAD2;; RAMBAM-HASHARON SYNDROME; RHS NULL 266270 RAMON SYNDROME CHERUBISM, GINGIVAL FIBROMATOSIS, EPILEPSY, MENTAL DEFICIENCY, HYPERTRICHOSIS, AND STUNTED GROWTH Number Sign 266280 RAPADILINO SYNDROME Number Sign 266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2 RED HAIR COLOR; RHC;; BLOND HAIR/FAIR SKIN;; RHA;; HAIR COLOR 2; HCL2 UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO, INCLUDED Percent 266350 RED SKIN PIGMENT ANOMALY OF NEW GUINEA NULL 266400 REESE RETINAL DYSPLASIA Number Sign 266500 REFSUM DISEASE, CLASSIC REFSUM DISEASE, ADULT, 1;; PHYTANIC ACID OXIDASE DEFICIENCY;; HEREDOPATHIA ATACTICA POLYNEURITIFORMIS;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IV; HMSN4;; HMSN IV Number Sign 266510 PEROXISOME BIOGENESIS DISORDER 3B; PBD3B Number Sign 266600 INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1; IBD1 REGIONAL ENTERITIS, INCLUDED;; CROHN DISEASE, INCLUDED;; ULCERATIVE COLITIS, INCLUDED;; CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO, INCLUDED NULL 266810 RENAL AND MULLERIAN DUCT HYPOPLASIA Number Sign 266900 SENIOR-LOKEN SYNDROME 1; SLSN1 SENIOR-LOKEN SYNDROME;; LOKEN-SENIOR SYNDROME;; RENAL-RETINAL SYNDROME;; JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS;; RENAL DYSPLASIA AND RETINAL APLASIA NULL 266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME RL SYNDROME Number Sign 266920 SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 MAINZER-SALDINO SYNDROME; MZSDS;; CONORENAL SYNDROME;; RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA Number Sign 267000 PERLMAN SYNDROME; PRLMNS RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM;; NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR Number Sign 267010 MECKEL SYNDROME, TYPE 7; MKS7 RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST;; GOLDSTON SYNDROME NULL 267200 RENAL TUBULAR ACIDOSIS III RTA, DISLOCATION TYPE;; RTA, BICARBONATE-WASTING TYPE Number Sign 267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PROGRESSIVE NERVE DEAFNESS;; RENAL TUBULAR ACIDOSIS WITH PROGRESSIVE NERVE DEAFNESS;; RTA WITH PROGRESSIVE NERVE DEAFNESS NULL 267400 RENAL, GENITAL, AND MIDDLE EAR ANOMALIES Number Sign 267430 RENAL TUBULAR DYSGENESIS; RTD PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED NULL 267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS RDS OF PREMATURITY;; HYALINE MEMBRANE DISEASE, FORMERLY NULL 267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA Number Sign 267500 RETICULAR DYSGENESIS RETICULAR DYSGENESIA;; CONGENITAL ALEUKIA;; SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA;; DE VAAL DISEASE;; HEMATOPOIETIC HYPOPLASIA, GENERALIZED;; ALEUKOCYTOSIS Percent 267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 HPLH1;; HLH1;; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FHL; FHLH; HPLH;; RETICULOSIS, FAMILIAL HISTIOCYTIC;; HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL;; ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FEL NULL 267730 RETICULUM CELL SARCOMA NULL 267740 RETINAL DEGENERATION AND EPILEPSY Number Sign 267750 KNOBLOCH SYNDROME 1; KNO1 KNO;; RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE NULL 267760 RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA NULL 267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE NULL 267900 RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA Number Sign 268000 RETINITIS PIGMENTOSA; RP NULL 268010 RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS NULL 268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM INSULIN-RESISTANT DIABETES WITH ACANTHOSIS NIGRICANS, HYPOGONADISM, PIGMENTARY RETINOPATHY, DEAFNESS, AND MENTAL RETARDATION NULL 268025 RETINITIS PIGMENTOSA, LATE-ADULT ONSET RETINITIS PIGMENTOSA, 'SENILE' Caret 268030 MOVED TO 600105 NULL 268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME RHE SYNDROME NULL 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION MIRHOSSEINI-HOLMES-WALTON SYNDROME NULL 268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA, PERICENTRAL Percent 268080 RETINOSCHISIS OF FOVEA Number Sign 268100 ENHANCED S-CONE SYNDROME; ESCS GOLDMANN-FAVRE SYNDROME, INCLUDED;; RETINOSCHISIS WITH EARLY HEMERALOPIA, INCLUDED;; FAVRE HYALOIDEORETINAL DEGENERATION, INCLUDED Number Sign 268130 REVESZ SYNDROME DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 5; DKCA5;; EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE Number Sign 268150 RH-NULL, REGULATOR TYPE; RHNR RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE;; RH-NULL DISEASE, REGULATOR TYPE RH-MOD, INCLUDED;; RH DEFICIENCY SYNDROME, INCLUDED Number Sign 268200 MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE MYOGLOBINURIA, FAMILIAL PAROXYSMAL PARALYTIC;; RHABDOMYOLYSIS, ACUTE RECURRENT Number Sign 268210 RHABDOMYOSARCOMA, EMBRYONAL, 1; RMSE1 RHABDOMYOSARCOMA 1; RMS1;; RHABDOMYOSARCOMA CHROMOSOMAL REGION; RMSCR Number Sign 268220 RHABDOMYOSARCOMA 2; RMS2 RHABDOMYOSARCOMA, ALVEOLAR; RMSA NULL 268240 RHEUMATIC FEVER-RELATED ANTIGEN RHEUMATIC FEVER, ACUTE, SUSCEPTIBILITY TO, INCLUDED NULL 268250 RHIZOMELIC SYNDROME RHIZOMELIC DYSPLASIA, FAMILIAL Number Sign 268300 ROBERTS SYNDROME; RBS LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE Number Sign 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES RICHIERI-COSTA-PEREIRA SYNDROME; RCPS Number Sign 268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA, FORMERLY;; COVESDEM SYNDROME, FORMERLY ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS, INCLUDED;; ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY, INCLUDED NULL 268315 ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION NULL 268320 RODRIGUES BLINDNESS MICROPHTHALMIA, MICROCORNEA, AND SCLEROCORNEA WITH SHORT STATURE AND HAIR AND DENTAL ABNORMALITIES Number Sign 268400 ROTHMUND-THOMSON SYNDROME; RTS POIKILODERMA ATROPHICANS AND CATARACT NULL 268500 ROWLEY-ROSENBERG SYNDROME GROWTH RETARDATION, PULMONARY HYPERTENSION, AND AMINO ACIDURIA NULL 268650 RUDIGER SYNDROME Caret 268670 MOVED TO 270400 Percent 268700 SACCHAROPINURIA HYPERLYSINEMIA, TYPE II;; SACCHAROPINE DEHYDROGENASE DEFICIENCY;; ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE DEFICIENCY Number Sign 268800 SANDHOFF DISEASE GM2-GANGLIOSIDOSIS, TYPE II;; HEXOSAMINIDASES A AND B DEFICIENCY SANDHOFF DISEASE, ADULT TYPE, INCLUDED;; SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED;; SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED Percent 268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME SHORT STATURE, MENTAL RETARDATION, EYE ANOMALIES, AND CLEFT LIP/PALATE;; SAO PAULO MCA/MR SYNDROME Number Sign 268900 SARCOSINEMIA; SARCOS HYPERSARCOSINEMIA;; SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY;; SARDH DEFICIENCY; SARDHD;; SARD DEFICIENCY Caret 268950 MOVED TO 254110 Number Sign 269000 SC PHOCOMELIA SYNDROME SC PSEUDOTHALIDOMIDE SYNDROME Number Sign 269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME SGS Number Sign 269160 SCHIZENCEPHALY Percent 269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2 SCHMIDT SYNDROME;; DIABETES MELLITUS, ADDISON DISEASE, MYXEDEMA;; POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE II;; PGA II;; POLYENDOCRINE AUTOIMMUNE SYNDROME, TYPE II;; APS II Number Sign 269250 SCHNECKENBECKEN DYSPLASIA; SHNKND CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS Percent 269300 CRANIOMETADIAPHYSEAL DYSPLASIA; CRMDD Number Sign 269400 ANTERIOR SEGMENT DYSGENESIS 7; ASGD7 CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES; COPOA;; SCLEROCORNEA WITH OTHER OCULAR ANOMALIES Number Sign 269500 SCLEROSTEOSIS 1; SOST1 SOST;; CORTICAL HYPEROSTOSIS WITH SYNDACTYLY Number Sign 269600 SEA-BLUE HISTIOCYTE DISEASE SEA-BLUE HISTIOCYTOSIS;; HISTIOCYTOSIS, SEA-BLUE NULL 269630 SECOND METATARSAL-METACARPAL SYNDROME NULL 269650 SECRETORY COMPONENT DEFICIENCY IgA DEFICIENCY, SECRETORY Number Sign 269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2;; SEIP SYNDROME;; BERARDINELLI SYNDROME;; LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM;; LIPOATROPHIC DIABETES, CONGENITAL;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 2;; BRUNZELL SYNDROME, BSCL2-RELATED NULL 269720 SEIZURES, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE BFNS, AUTOSOMAL RECESSIVE;; CONVULSIONS, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE;; EPILEPSY, BENIGN FAMILIAL NEONATAL, AUTOSOMAL RECESSIVE NULL 269800 SENILE PLAQUE FORMATION Number Sign 269840 IMMUNODEFICIENCY 48; IMD48 SELECTIVE T-CELL DEFECT; STCD Percent 269860 SHORT-RIB THORACIC DYSPLASIA 12; SRTD12 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV; SRPS4;; SRPS IV;; BEEMER-LANGER SYNDROME;; SHORT RIB SYNDROME, BEEMER TYPE NULL 269870 SHORT STATURE-OBESITY SYNDROME; SSOS Number Sign 269880 SHORT SYNDROME SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY;; LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE Number Sign 269920 INFANTILE SIALIC ACID STORAGE DISEASE; ISSD SIALURIA, INFANTILE FORM;; N-ACETYLNEURAMINIC ACID STORAGE DISEASE;; NANA STORAGE DISEASE; NSD Number Sign 269921 SIALURIA SIALURIA, FRENCH TYPE Caret 269950 MOVED TO 206000 Caret 270050 MOVED TO 180860 Number Sign 270100 HETEROTAXY, VISCERAL, 5, AUTOSOMAL; HTX5 SITUS INVERSUS VISCERUM; SIV Percent 270150 SJOGREN SYNDROME SICCA SYNDROME Number Sign 270200 SJOGREN-LARSSON SYNDROME; SLS ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIA;; FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY;; FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY;; FALDH DEFICIENCY NULL 270220 SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT ICHTHYOSIS, SJOGREN-LARSSON-LIKE, WITHOUT CNS OR EYE INVOLVEMENT Caret 270230 MOVED TO 187600 Caret 270240 MOVED TO 268400 Number Sign 270300 PEELING SKIN SYNDROME 1; PSS1 PSS;; SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED;; KERATOLYSIS EXFOLIATIVA CONGENITA;; DECIDUOUS SKIN NULL 270350 ANOSMIA FOR BUTYL MERCAPTAN SKUNK N-BUTYL MERCAPTAN, INABILITY TO SMELL Number Sign 270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS SLO SYNDROME;; RSH SYNDROME;; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;; LETHAL ACRODYSGENITAL SYNDROME Number Sign 270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 SODIUM DIARRHEA, CONGENITAL; CSD;; DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC NULL 270425 SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL SODIUM PUMP SITES, NUMBER OF Number Sign 270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO; IGF1RES SOMATOMEDIN, END-ORGAN INSENSITIVITY TO;; SOMATOMEDIN-C, RESISTANCE TO;; IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED NULL 270460 SONODA SYNDROME ROUND FACE WITH DEPRESSED NASAL BRIDGE AND SMALL MOUTH, CONGENITAL HEART DEFECT, AND RETARDED DEVELOPMENT NULL 270500 ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION Number Sign 270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE; SPAX6;; CHARLEVOIX-SAGUENAY SPASTIC ATAXIA;; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY; ARSACS Percent 270600 SPASTIC DIPLEGIA AND MENTAL RETARDATION SPASTIC DIPLEGIA, INFANTILE TYPE Caret 270680 MOVED TO 270750 Number Sign 270685 SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT; SPG17 SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET;; SILVER SYNDROME;; SILVER SPASTIC PARAPLEGIA SYNDROME Number Sign 270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 SPASTIC PARAPLEGIA AND RETINAL DEGENERATION;; KJELLIN SYNDROME Caret 270710 MOVED TO 270550, 190350, AND 616944 Number Sign 270750 SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE; SPG23 SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES;; SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES;; LISON SYNDROME Number Sign 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A NULL 270805 SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY NULL 270850 SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION NULL 270900 SPASTIC PSEUDOSCLEROSIS DISSEMINATED ENCEPHALOMYELOPATHY;; CORTICOPALLIDODEGENERATION NULL 270950 SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION Number Sign 270960 SPERMATOGENIC FAILURE 4; SPGF4 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS;; AZOOSPERMIA WITH MATURATION ARREST;; SPERMATOGENESIS ARREST PREGNANCY LOSS, RECURRENT, 4, INCLUDED; RPRGL4, INCLUDED Number Sign 270970 SPHEROCYTOSIS, TYPE 3; SPH3 SPHEROCYTOSIS, HEREDITARY, 3; HS3 Caret 271100 MOVED TO 153400 NULL 271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION NULL 271110 SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY Caret 271120 MOVED TO 182960 Number Sign 271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 SPINAL MUSCULAR ATROPHY, ADULT FORM;; SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE NULL 271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE NULL 271220 SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL NULL 271225 SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES Number Sign 271245 MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 SPINOCEREBELLAR ATAXIA, INFANTILE-ONSET; IOSCA;; OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS;; OHAHA SYNDROME;; SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY;; SPINOCEREBELLAR ATAXIA 8, FORMERLY; SCA8, FORMERLY Percent 271250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3 SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS; SCABD NULL 271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM NULL 271310 SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY CORNEAL-CEREBELLAR SYNDROME;; CORNEAL DYSTROPHY WITH SPINOCEREBELLAR DEGENERATION NULL 271320 SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA BEDOUIN SPASTIC ATAXIA SYNDROME NULL 271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM Number Sign 271400 ASPLENIA, ISOLATED CONGENITAL; ICAS HYPOSPLENIA, ISOLATED CONGENITAL;; SPLENIC HYPOPLASIA;; ASPLENIA, FAMILIAL NULL 271500 SPLENOPORTAL VASCULAR ANOMALIES Number Sign 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE; SEMDSP SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES;; SPONASTRIME DYSPLASIA;; SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEAL STRIATION NULL 271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES CASAMASSIMA-MORTON-NANCE SYNDROME;; CMN SYNDROME Percent 271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE; BCYM1A BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK;; SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA Caret 271550 MOVED TO 607944 Percent 271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE NULL 271620 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION SEDT WITH MENTAL RETARDATION Percent 271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE; BCYM1B SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE;; SED, CHONDROITIN SULFATE TYPE;; PAPS-CHONDROITIN SULFATE SULFOTRANSFERASE DEFICIENCY Number Sign 271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1 SEMDJL Percent 271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT Number Sign 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE SMED-SL;; SMED, SHORT LIMB-HAND TYPE;; SMED, TYPE II;; SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;; SMED, SHORT LIMB-ABNORMAL CALCIFICATION TYPE;; SMED-SL/AC Number Sign 271700 SPONDYLOPERIPHERAL DYSPLASIA SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA Number Sign 271900 CANAVAN DISEASE CANAVAN-VAN BOGAERT-BERTRAND DISEASE;; SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM;; ASPARTOACYLASE DEFICIENCY;; ASPA DEFICIENCY;; ASP DEFICIENCY;; AMINOACYLASE 2 DEFICIENCY;; ACY2 DEFICIENCY Number Sign 271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI INFANTILE BILATERAL STRIATAL NECROSIS; IBSN;; BILATERAL STRIATAL NECROSIS, INFANTILE;; STRIATAL DEGENERATION, FAMILIAL NULL 271950 SUBAORTIC STENOSIS, MEMBRANOUS NULL 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME ONAT SYNDROME Number Sign 271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD SSADH DEFICIENCY;; 4-HYDROXYBUTYRIC ACIDURIA;; GABA METABOLIC DEFECT;; GAMMA-HYDROXYBUTYRIC ACIDURIA NULL 272000 SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION NULL 272100 SUDANOPHILIC CEREBRAL SCLEROSIS SCHILDER DISEASE Number Sign 272120 SUDDEN INFANT DEATH SYNDROME SIDS NULL 272150 SUGARMAN BRACHYDACTYLY BRACHYDACTYLY WITH MAJOR PROXIMAL PHALANGEAL SHORTENING Number Sign 272200 MULTIPLE SULFATASE DEFICIENCY; MSD MUCOSULFATIDOSIS;; SULFATIDOSIS, JUVENILE, AUSTIN TYPE Number Sign 272300 SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD SULFOCYSTEINURIA NULL 272350 SUMMITT SYNDROME Percent 272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 NATURAL KILLER CELL SUSCEPTIBILITY 1; NKS1 Number Sign 272430 CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 CRISPONI SYNDROME;; SOHAR-CRISPONI SYNDROME;; MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH Number Sign 272440 FILIPPI SYNDROME; FLPIS SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION;; SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION NULL 272450 SYNDESMODYSPLASIC DWARFISM Number Sign 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT SPONDYLOCARPOTARSAL SYNDROME;; SYNSPONDYLISM, CONGENITAL;; VERTEBRAL FUSION WITH CARPAL COALITION;; SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR Caret 272480 MOVED TO 186700 Caret 272500 MOVED TO 269700 Caret 272550 MOVED TO 138500 NULL 272600 TAPETORETINAL DEGENERATION WITH ATAXIA NULL 272620 TARDIVE DYSKINESIA Percent 272650 TATSUMI FACTOR DEFICIENCY NULL 272700 TAURODONTISM Number Sign 272750 GM2-GANGLIOSIDOSIS, AB VARIANT HEXOSAMINIDASE ACTIVATOR DEFICIENCY;; GM2 ACTIVATOR DEFICIENCY;; AB VARIANT GM2-GANGLIOSIDOSIS;; TAY-SACHS DISEASE, AB VARIANT Number Sign 272800 TAY-SACHS DISEASE; TSD GM2-GANGLIOSIDOSIS, TYPE I;; B VARIANT GM2-GANGLIOSIDOSIS;; HEXOSAMINIDASE A DEFICIENCY;; HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE, INCLUDED;; HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED;; GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED;; GM2-GANGLIOSIDOSIS, VARIANT B1, INCLUDED;; TAY-SACHS DISEASE, VARIANT B1, INCLUDED;; TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED NULL 272950 TEEBI-SHALTOUT SYNDROME; TBSH CRANIOFACIAL ANOMALIES, ABNORMAL HAIR, CAMPTODACTYLY, AND CAUDAL APPENDAGE NULL 272980 TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR TAURODONTIA, ABSENT TEETH, AND SPARSE HAIR NULL 273000 TEETH, FUSED NULL 273050 TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM NULL 273120 TERATOMA, PINEAL NULL 273150 TESTES, RUDIMENTARY Percent 273250 TESTICULAR REGRESSION SYNDROME; TRS TESTICULAR REGRESSION, EMBRYONIC;; XY GONADAL AGENESIS SYNDROME;; ANORCHIA, FAMILIAL Number Sign 273300 TESTICULAR GERM CELL TUMOR; TGCT MALE GERM CELL TUMOR; MGCT SEMINOMA, INCLUDED;; NONSEMINOMATOUS GERM CELL TUMORS, INCLUDED;; TERATOMA, TESTICULAR, INCLUDED;; EMBRYONAL CELL CARCINOMA, INCLUDED;; ENDODERMAL SINUS TUMOR, INCLUDED;; SPERMATOCYTIC SEMINOMA, INCLUDED Caret 273350 MOVED TO 154230 NULL 273390 TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES Number Sign 273395 TETRAAMELIA SYNDROME 1; TETAMS1 TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE NULL 273400 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES ODONTOTRICHOMELIC SYNDROME NULL 273490 THALAMIC DEGENERATION, SYMMETRIC INFANTILE NULL 273600 THALIDOMIDE SUSCEPTIBILITY NULL 273680 THANATOPHORIC DYSPLASIA, GLASGOW VARIANT NEONATALLY LETHAL SHORT-LIMB SKELETAL DYSPLASIA, GLASGOW TYPE NULL 273730 THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME NULL 273740 THORACOMELIC DYSPLASIA 'THORACO-LIMB' DYSPLASIA Number Sign 273750 THREE M SYNDROME 1; 3M1 3M SYNDROME;; LE MERRER SYNDROME;; DOLICHOSPONDYLIC DYSPLASIA;; GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME, INCLUDED NULL 273770 THREONINEMIA HYPERTHREONINEMIA Number Sign 273800 GLANZMANN THROMBASTHENIA; GT BLEEDING DISORDER, PLATELET-TYPE, 2; BDPLT2;; THROMBASTHENIA OF GLANZMANN AND NAEGELI;; PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY;; GP IIb-IIIa COMPLEX, DEFICIENCY OF;; PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF;; GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OF Number Sign 273900 THROMBOCYTOPENIA 3; THC3 THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 3 Number Sign 274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR TAR SYNDROME;; CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB Number Sign 274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP MICROANGIOPATHIC HEMOLYTIC ANEMIA;; THROMBOTIC MICROANGIOPATHY, FAMILIAL;; UPSHAW-SCHULMAN SYNDROME; USS;; SCHULMAN-UPSHAW SYNDROME;; UPSHAW FACTOR, DEFICIENCY OF;; MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL;; THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL Asterisk 274180 THROMBOXANE A SYNTHASE 1; TBXAS1 THROMBOXANE A SYNTHASE, PLATELET;; CYTOCHROME P450, SUBFAMILY V; CYP5;; CYP5A1 Percent 274190 THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY NULL 274200 THUMB, DISTAL HYPEREXTENSIBILITY OF NULL 274205 THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS NULL 274210 THYMIC APLASIA WITH FETAL DEATH NULL 274230 THYMOMA, FAMILIAL THYMIC NEOPLASIA NULL 274240 THYROCEREBRORETINAL SYNDROME Caret 274260 MOVED TO 274230 NULL 274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA Number Sign 274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY DPD DEFICIENCY;; DPYD DEFICIENCY;; THYMINE-URACILURIA, HEREDITARY;; PYRIMIDINEMIA, FAMILIAL 5-FLUOROURACIL TOXICITY, INCLUDED Number Sign 274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH GTHR;; THYROID HORMONE UNRESPONSIVENESS;; REFETOFF SYNDROME Number Sign 274400 THYROID DYSHORMONOGENESIS 1; TDH1 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1;; IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT Number Sign 274500 THYROID DYSHORMONOGENESIS 2A; TDH2A THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A;; IODIDE PEROXIDASE DEFICIENCY;; THYROID PEROXIDASE DEFICIENCY Number Sign 274600 PENDRED SYNDROME; PDS DEAFNESS WITH GOITER;; GOITER-DEAFNESS SYNDROME;; THYROID DYSHORMONOGENESIS 2B; TDH2B;; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B Number Sign 274700 THYROID DYSHORMONOGENESIS 3; TDH3 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 Number Sign 274800 THYROID DYSHORMONOGENESIS 4; TDH4 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 4;; IODOTYROSINE DEHALOGENASE DEFICIENCY;; DEIODINASE DEFICIENCY Number Sign 274900 THYROID DYSHORMONOGENESIS 5; TDH5 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 5 Percent 275000 GRAVES DISEASE, SUSCEPTIBILITY TO, 1; GRD1 GRD;; THYROTOXICOSIS;; HYPERTHYROIDISM, AUTOIMMUNE Number Sign 275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 THYROTROPIN DEFICIENCY, ISOLATED;; THYROID-STIMULATING HORMONE DEFICIENCY;; TSH DEFICIENCY;; PITUITARY CRETINISM THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED Percent 275120 THYROTROPIN-RELEASING HORMONE DEFICIENCY TRH DEFICIENCY;; HYPOTHALAMIC HYPOTHYROIDISM NULL 275190 TIGLIC ACIDEMIA Number Sign 275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 THYROTROPIN RESISTANCE;; THYROID-STIMULATING HORMONE, RESISTANCE TO; RTSH;; TSH RESISTANCE;; HYPOTHYROIDISM, NONAUTOIMMUNE;; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE;; HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN Number Sign 275210 RESTRICTIVE DERMOPATHY, LETHAL TIGHT SKIN CONTRACTURE SYNDROME, LETHAL;; HYPERKERATOSIS-CONTRACTURE SYNDROME;; FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY NULL 275220 TIBIAL HEMIMELIA THM;; TIBIA, ABSENCE OF NULL 275230 TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS NULL 275240 TINEA IMBRICATA, SUSCEPTIBILITY TO Percent 275250 TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF NULL 275300 TRACHEOBRONCHOMEGALY Number Sign 275350 TRANSCOBALAMIN II DEFICIENCY TC II DEFICIENCY;; TCN2 DEFICIENCY Number Sign 275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC Asterisk 275360 TREHALASE; TREH ALPHA,ALPHA-TREHALOSE-1-D-GLUCOHYDROLASE Percent 275370 TRICARBOXYLIC ACID CYCLE, DEFECT OF Number Sign 275400 OLIVER-MCFARLANE SYNDROME; OMCS TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA;; EYELASHES, LONG, WITH MENTAL RETARDATION NULL 275450 TRICHOODONTOONYCHIAL DYSPLASIA WITH BONE DEFICIENCY Caret 275500 MOVED TO 190350 Caret 275550 MOVED TO 234050 NULL 275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET Caret 275600 REMOVED FROM DATABASE Number Sign 275630 CHANARIN-DORFMAN SYNDROME; CDS NEUTRAL LIPID STORAGE DISEASE WITH ICHTHYOSIS; NLSDI;; TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION;; ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE;; DORFMAN-CHANARIN SYNDROME; DCS;; CHANARIN-DORFMAN DISEASE;; ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION Caret 275650 MOVED TO 214950 Number Sign 275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 TROYER SYNDROME;; SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING;; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE Asterisk 276000 PROTEASE, SERINE, 1; PRSS1 TRYPSINOGEN 1; TRY1;; TRYPSINOGEN, CATIONIC TRYPSIN 1, INCLUDED Percent 276100 TRYPTOPHANURIA WITH DWARFISM NULL 276200 T-SUBSTANCE ANOMALY Number Sign 276300 MISMATCH REPAIR CANCER SYNDROME; MMRCS CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME; CMMRDS;; MISMATCH REPAIR DEFICIENCY;; MMR DEFICIENCY;; CHILDHOOD CANCER SYNDROME;; BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTPS1;; BTP1 SYNDROME;; TURCOT SYNDROME Percent 276400 TWINNING, DIZYGOTIC OVARIAN RESPONSE TO FSH STIMULATION, INCLUDED NULL 276410 TWINNING, MONOZYGOTIC Caret 276500 MOVED TO 276710 Number Sign 276600 TYROSINEMIA, TYPE II; TYRSN2 RICHNER-HANHART SYNDROME;; TYROSINE AMINOTRANSFERASE DEFICIENCY;; TAT DEFICIENCY;; TYROSINE TRANSAMINASE DEFICIENCY;; KERATOSIS PALMOPLANTARIS WITH CORNEAL DYSTROPHY;; OREGON TYPE TYROSINEMIA;; TYROSINOSIS, OCULOCUTANEOUS TYPE Number Sign 276700 TYROSINEMIA, TYPE I; TYRSN1 HEPATORENAL TYROSINEMIA;; FUMARYLACETOACETASE DEFICIENCY;; FAH DEFICIENCY Number Sign 276710 TYROSINEMIA, TYPE III; TYRSN3 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE DEFICIENCY;; 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE DEFICIENCY NULL 276800 TYROSINOSIS Number Sign 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME; LPHAS;; AL-AWADI/RAAS-ROTHSCHILD SYNDROME; AARRS;; SCHINZEL PHOCOMELIA SYNDROME NULL 276821 ULNAR HYPOPLASIA WITH MENTAL RETARDATION MESOMELIA OF THE UPPER LIMBS, ANONYCHIA CONGENITA, CLUBFEET, AND MENTAL RETARDATION NULL 276822 ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS Caret 276850 MOVED TO 274150 Number Sign 276880 UROCANASE DEFICIENCY; UROCD Number Sign 276900 USHER SYNDROME, TYPE I; USH1 US1;; RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED;; USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED; USH1A, FORMERLY, INCLUDED;; USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, INCLUDED Number Sign 276901 USHER SYNDROME, TYPE IIA; USH2A Number Sign 276902 USHER SYNDROME, TYPE IIIA; USH3A USHER SYNDROME, TYPE III; USH3 Asterisk 276903 MYOSIN VIIA; MYO7A MYOSIN, UNCONVENTIONAL, FAMILY VII, MEMBER A; MYU7A Number Sign 276904 USHER SYNDROME, TYPE IC; USH1C USHER SYNDROME, TYPE I, ACADIAN VARIETY Caret 276905 MOVED TO 605472 Percent 276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED;; VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INCLUDED Percent 277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME MRKH SYNDROME;; MULLERIAN APLASIA/DYSGENESIS;; VON MAYER-ROKITANSKY-KUSTER ANOMALY;; MRKH ANOMALY;; MRK ANOMALY;; UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA;; CONGENITAL ABSENCE OF UTERUS AND VAGINA; CAUV UROGENITAL ADYSPLASIA, INCLUDED Percent 277100 VALINEMIA VALINE TRANSAMINASE DEFICIENCY;; HYPERVALINEMIA Percent 277150 VAN BOGAERT-HOZAY SYNDROME Number Sign 277170 OROFACIODIGITAL SYNDROME VI; OFD6 ORAL-FACIAL-DIGITAL SYNDROME, TYPE VI;; OFDS VI;; VARADI-PAPP SYNDROME;; VARADI SYNDROME;; POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION NULL 277175 VASCULAR HYALINOSIS Number Sign 277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD CAVD NULL 277200 RIGHT VENTRICULAR HYPOPLASIA, ISOLATED IRVH Number Sign 277300 SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE; SCDO1 VERTEBRAL ANOMALIES;; JARCHO-LEVIN SYNDROME;; SPONDYLOTHORACIC DYSPLASIA;; COSTOVERTEBRAL DYSPLASIA;; SPONDYLOTHORACIC DYSOSTOSIS Percent 277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA INTESTINAL PSEUDOOBSTRUCTION WITH EXTERNAL OPHTHALMOPLEGIA;; MUSCULAR DYSTROPHY, OCULOGASTROINTESTINAL Percent 277350 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL RECESSIVE Number Sign 277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE; MAHCF METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblF TYPE;; METHYLMALONIC ACIDURIA DUE TO VITAMIN B12-RELEASE DEFECT;; VITAMIN B12 LYSOSOMAL RELEASE DEFECT;; COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF;; VITAMIN B12 STORAGE DISEASE;; COBALAMIN F DISEASE; cblF Number Sign 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblC TYPE;; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, VITAMIN B12-RESPONSIVE;; VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC, INCLUDED Number Sign 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE; MAHCD METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE;; METHYLMALONIC ACIDURIA, cblH TYPE, FORMERLY;; METHYLMALONIC ACIDEMIA, cblH TYPE, FORMERLY HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED;; METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2, INCLUDED Caret 277420 MOVED TO 277440 Number Sign 277440 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA;; RICKETS, HEREDITARY VITAMIN D-RESISTANT; HVDRR;; GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D;; VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL;; PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA;; PDDR IIA;; HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS;; RICKETS-ALOPECIA SYNDROME Number Sign 277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1; VKCFD1 VKCFD;; VITAMIN K-DEPENDENT COAGULATION DEFECT;; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III;; FMFD III;; MULTIPLE COAGULATION FACTOR DEFICIENCY III; MCFD3;; FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF;; GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF Number Sign 277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED ATAXIA, FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY; AVED;; FRIEDREICH-LIKE ATAXIA NULL 277465 VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION Number Sign 277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A PCH2;; PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;; VOLENDAM NEURODEGENERATIVE DISEASE Number Sign 277480 VON WILLEBRAND DISEASE, TYPE 3; VWD3 VON WILLEBRAND DISEASE, TYPE III;; VWD, TYPE 3 Number Sign 277580 WAARDENBURG SYNDROME, TYPE 4A; WS4A WAARDENBURG SYNDROME, TYPE IVA;; WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A;; WAARDENBURG-SHAH SYNDROME;; SHAH-WAARDENBURG SYNDROME;; WS4 Number Sign 277590 WEAVER SYNDROME; WVS WEAVER-SMITH SYNDROME; WSS WEAVER-LIKE SYNDROME, INCLUDED Number Sign 277600 WEILL-MARCHESANI SYNDROME 1; WMS1 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE;; SPHEROPHAKIA-BRACHYMORPHIA SYNDROME;; MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL Caret 277610 MOVED TO 184840 Number Sign 277700 WERNER SYNDROME; WRN Percent 277720 WHISTLING FACE SYNDROME, RECESSIVE FORM Percent 277730 WERNICKE-KORSAKOFF SYNDROME TRANSKETOLASE DEFECT;; ALCOHOL-INDUCED ENCEPHALOPATHY NULL 277740 WHITE FORELOCK WITH MALFORMATIONS Number Sign 277900 WILSON DISEASE WND; WD;; HEPATOLENTICULAR DEGENERATION Number Sign 277950 WINCHESTER SYNDROME; WNCHRS Caret 277970 MOVED TO 614493 NULL 277990 WOLFF MENTAL RETARDATION SYNDROME Number Sign 278000 LYSOSOMAL ACID LIPASE DEFICIENCY CHOLESTERYL ESTER STORAGE DISEASE; CESD;; LIPA DEFICIENCY;; LAL DEFICIENCY;; CHOLESTEROL ESTER HYDROLASE DEFICIENCY WOLMAN DISEASE, INCLUDED NULL 278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS Number Sign 278150 HYPOTRICHOSIS 8; HYPT8 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3; LAH3 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED; ARWH1, INCLUDED NULL 278200 WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS SALAMON SYNDROME Caret 278205 MOVED TO 601214 Number Sign 278250 WRINKLY SKIN SYNDROME; WSS Number Sign 278300 XANTHINURIA, TYPE I; XAN1 XANTHINE DEHYDROGENASE DEFICIENCY;; XDH DEFICIENCY;; XANTHINE OXIDASE DEFICIENCY Caret 278400 MOVED TO 203290 Caret 278600 MOVED TO 236800 Number Sign 278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA XP, GROUP A;; XERODERMA PIGMENTOSUM I; XP1 Number Sign 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC XPCC;; XP, GROUP C;; XERODERMA PIGMENTOSUM III; XP3 Number Sign 278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD XP, GROUP D; XPDC;; XERODERMA PIGMENTOSUM IV;; XP4 XERODERMA PIGMENTOSUM VIII, FORMERLY; XP8, FORMERLY;; XP, GROUP H, FORMERLY; XPH, FORMERLY Number Sign 278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E XPE;; XP, GROUP E;; XERODERMA PIGMENTOSUM V; XP5 Number Sign 278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES;; PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS Number Sign 278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF XP, GROUP F;; XERODERMA PIGMENTOSUM VI; XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, INCLUDED; XPF/CS, INCLUDED Number Sign 278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG XP, GROUP G; XPGC;; XERODERMA PIGMENTOSUM VII; XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED Number Sign 278800 DE SANCTIS-CACCHIONE SYNDROME Caret 278810 MOVED TO 278720 Number Sign 278850 46,XX SEX REVERSAL 2; SRXX2 CHROMOSOME 17q24 DUPLICATION SYNDROME NULL 278900 XYLOSIDASE DEFICIENCY Percent 279000 YOUNG SYNDROME AZOOSPERMIA, OBSTRUCTIVE, AND CHRONIC SINOPULMONARY INFECTIONS;; SINUSITIS-INFERTILITY SYNDROME;; BARRY-PERKINS-YOUNG SYNDROME Number Sign 280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME CHIME SYNDROME;; ZUNICH NEUROECTODERMAL SYNDROME;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5; GPIBD5 Number Sign 300000 OPITZ GBBB SYNDROME, TYPE I; GBBB1 OPITZ GBBB SYNDROME, X-LINKED;; OPITZ SYNDROME; OS;; OPITZ SYNDROME, X-LINKED; OSX;; OPITZ-G SYNDROME, TYPE I; OGS1;; OPITZ BBBG SYNDROME, TYPE I; BBBG1;; HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS;; HYPERTELORISM-HYPOSPADIAS SYNDROME;; TELECANTHUS-HYPOSPADIAS SYNDROME Percent 300001 ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY Asterisk 300002 ARYLSULFATASE D; ARSD Asterisk 300003 ARYLSULFATASE F; ARSF Number Sign 300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA ACC WITH ABNORMAL GENITALIA;; PROUD SYNDROME Asterisk 300005 METHYL-CpG-BINDING PROTEIN 2; MECP2 Asterisk 300006 CENTRIN 2; CETN2 CENTRIN, EF-HAND PROTEIN, 2;; CALTRACTIN; CALT Asterisk 300007 INTERLEUKIN 9 RECEPTOR; IL9R Asterisk 300008 CHLORIDE CHANNEL 5; CLCN5 CHLORIDE CHANNEL, VOLTAGE-GATED, K2; CLCK2;; CLC5 Number Sign 300009 DENT DISEASE 1 NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED;; UROLITHIASIS, HYPERCALCIURIC, X-LINKED;; NEPHROLITHIASIS 2; NPHL2 Asterisk 300010 A-11 GENE; A11 DXS435E Asterisk 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A Asterisk 300012 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 1; SMARCA1 SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 1; SNF2L1;; SNF2-LIKE 1 Asterisk 300013 N-ALPHA-ACETYLTRANSFERASE 10, NatA CATALYTIC SUBUNIT; NAA10 ARD1 N-ACETYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF, A; ARD1A;; ARREST-DEFECTIVE PROTEIN 1; ARD1;; TE2 Asterisk 300014 ATPase, Ca(2+)-TRANSPORTING, PLASMA MEMBRANE, 3; ATP2B3 PLASMA MEMBRANE Ca(2+)-ATPase, TYPE 3; PMCA3 Asterisk 300015 ACETYLSEROTONIN METHYLTRANSFERASE, X-CHROMOSOMAL; ASMT HYDROXYINDOLE-O-METHYLTRANSFERASE, X-CHROMOSOMAL; HIOMT Asterisk 300016 MELANOMA ANTIGEN, FAMILY A, 1; MAGEA1 MELANOMA-ASSOCIATED ANTIGEN 1; MAGE1;; MELANOMA-ASSOCIATED ANTIGEN MZ2-E Asterisk 300017 FILAMIN A; FLNA FILAMIN, ALPHA;; FILAMIN 1; FLN1;; FLN;; ACTIN-BINDING PROTEIN 280; ABP280 Number Sign 300018 46,XY SEX REVERSAL 2; SRXY2 46,XY SEX REVERSAL, DAX1-RELATED;; DOSAGE-SENSITIVE SEX REVERSAL; DSS Asterisk 300019 HOST CELL FACTOR C1; HCFC1 HCF1;; VP16 ACCESSORY PROTEIN Caret 300020 MOVED TO 102610 Caret 300021 MOVED TO 301830 Asterisk 300022 PLEXIN A3; PLXNA3 PLEXIN 4; PLXN4;; TRANSMEMBRANE PROTEIN SEX; SEX Asterisk 300023 RHO GTPase-ACTIVATING PROTEIN 4; ARHGAP4 RHO GAP HEMATOPOIETIC PROTEIN C1; RGC1;; GTPase-ACTIVATING PROTEIN, RHO, 4; RHOGAP4 Asterisk 300024 ZINC FINGER PROTEIN 157; ZNF157 Asterisk 300025 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 4; CDX4 Asterisk 300026 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 2; NAP1L2 BRAIN SPECIFIC GENE BPX; BPX Asterisk 300027 RNA-BINDING MOTIF PROTEIN 3; RBM3 Asterisk 300028 ZINC FINGER-, CCCH DOMAIN-, AND RNA-BINDING MOTIF-CONTAINING SERINE/ARGININE-RICH PROTEIN 2; ZRSR2 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 2; U2AF1RS2 Number Sign 300029 RETINITIS PIGMENTOSA 3; RP3 RETINITIS PIGMENTOSA 15; RP15;; CONE-ROD DEGENERATION, X-LINKED;; CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN Percent 300030 DEAFNESS, X-LINKED 3; DFNX3 DEAFNESS, X-LINKED 4, CONGENITAL SENSORINEURAL; DFN4 Asterisk 300031 FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A FRAGILE SITE, FOLIC ACID TYPE, FRA(X)(q28) F, INCLUDED; FRAXF, INCLUDED Asterisk 300032 ATR-X GENE; ATRX HELICASE 2, X-LINKED; XH2;; X-LINKED NUCLEAR PROTEIN GENE; XNP Asterisk 300033 FORKHEAD BOX O4; FOXO4 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7; MLLT7;; MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 7;; ALL1-FUSED GENE FROM X CHROMOSOME; AFX1 Asterisk 300034 ANGIOTENSIN II RECEPTOR, TYPE 2; AGTR2 Asterisk 300035 EPHRIN B1; EFNB1 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 2; EPLG2;; LIGAND OF EPH-RELATED KINASE 2; LERK2;; EFL3;; ELK LIGAND; ELKL Asterisk 300036 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8 CREATINE TRANSPORTER; CT1; CRTR; CRT Asterisk 300037 GLYPICAN 3; GPC3 OCI-5, RAT, HOMOLOG OF Asterisk 300038 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 4; P2RY4 P2Y4;; NUCLEOTIDE RECEPTOR, URIDINE; NRU; UNR Asterisk 300039 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4; POU3F4 BRAIN-4; BRN4 Asterisk 300040 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A; SMC1A SMC1-ALPHA;; STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1; SMC1L1;; SMC1;; DXS423E;; KIAA0178 Asterisk 300041 GUANYLATE CYCLASE 2F, RETINAL; GUCY2F GUANYLYL CYCLASE 2F, RETINAL;; GC-F;; RETGC2 NULL 300042 ALOPECIA, CONGENITAL; ALPC Caret 300043 MOVED TO 611663 Asterisk 300044 TRANSKETOLASE-LIKE 1; TKTL1 TRANSKETOLASE 2; TKT2;; TRANSKETOLASE-RELATED GENE; TKR Caret 300045 MOVED TO 602081 Percent 300046 MENTAL RETARDATION, X-LINKED 23; MRX23 Percent 300047 MENTAL RETARDATION, X-LINKED 20; MRX20 Number Sign 300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED IPOX;; CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; CIIP;; CIIP, X-LINKED; CIIPX;; INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED Number Sign 300049 PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT;; HETEROTOPIA, FAMILIAL NODULAR;; NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR; NHBP; BPNH;; HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT;; PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY; PVNH4, FORMERLY HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED Asterisk 300050 UBIQUITIN-SPECIFIC PROTEASE 11; USP11 UBIQUITIN CARBOXYL-TERMINAL HYDROLASE, X-LINKED; UHX1 Asterisk 300051 GLYCOPROTEIN M6B; GPM6B NEURONAL MEMBRANE GLYCOPROTEIN M6B Asterisk 300052 DYSTROPHIN-RELATED PROTEIN 2; DRP2 Asterisk 300053 VESICLE-ASSOCIATED MEMBRANE PROTEIN 7: VAMP7 SYNAPTOBREVIN-LIKE 1; SYBL1;; TETANUS NEUROTOXIN-INSENSITIVE VAMP; TIVAMP NULL 300054 BODY LENGTH, MOUSE, HUMAN HOMOLOG Number Sign 300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 MENTAL RETARDATION, X-LINKED 79; MRX79;; MENTAL RETARDATION, X-LINKED 16; MRX16;; MENTAL RETARDATION, X-LINKED, WITH SPASTICITY;; MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM; PPMX Asterisk 300056 HOLOCYTOCHROME C SYNTHASE; HCCS Caret 300057 MOVED TO 601324 Caret 300058 MOVED TO 300446 Asterisk 300059 TRANSMEMBRANE PROTEIN 187; TMEM187 CHROMOSOME X OPEN READING FRAME 12; CXORF12;; DXS9878E;; ITBA1 GENE Asterisk 300060 L ANTIGEN FAMILY, MEMBER 3; LAGE3 ITBA2 GENE;; DXS9879E Asterisk 300061 ZINC FINGER, MYM-TYPE 3; ZMYM3 ZINC FINGER PROTEIN 261; ZNF261;; DXS6673E Percent 300062 MENTAL RETARDATION, X-LINKED 14; MRX14 Caret 300063 MOVED TO 304930 NULL 300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM MENTAL RETARDATION, X-LINKED, HYDE-FORSTER TYPE Asterisk 300065 CENTROMERIC PROTEIN I; CENPI FSH PRIMARY RESPONSE, RAT, HOMOLOG OF, 1; FSHPRH1;; LEUCINE-RICH PRIMARY RESPONSE GENE 1; LRPR1;; MIS6 Number Sign 300066 DEAFNESS, X-LINKED 4; DFNX4 DEAFNESS, X-LINKED 6, PROGRESSIVE; DFN6;; DEAFNESS, NONSYNDROMIC SENSORINEURAL PROGRESSIVE 6 Number Sign 300067 LISSENCEPHALY, X-LINKED, 1; LISX1 XLIS;; LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED;; SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED; SBH, INCLUDED;; DOUBLE CORTEX SYNDROME, INCLUDED;; DC SYNDROME, INCLUDED Number Sign 300068 ANDROGEN INSENSITIVITY SYNDROME; AIS TESTICULAR FEMINIZATION SYNDROME; TFM;; ANDROGEN RECEPTOR DEFICIENCY;; AR DEFICIENCY;; DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY;; DHTR DEFICIENCY Caret 300069 MOVED TO 302060 Asterisk 300070 FIBROBLAST GROWTH FACTOR 13; FGF13 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 2; FHF2 Number Sign 300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A CSNB, INCOMPLETE, X-LINKED;; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; CSNB2 Asterisk 300072 UBIQUITIN-SPECIFIC PROTEASE 9, X-LINKED; USP9X DROSOPHILA FAT FACETS-RELATED, X-LINKED; DFFRX;; FAM NULL 300073 FETAL AKINESIA SYNDROME, X-LINKED Asterisk 300074 X CHROMOSOME-CONTROLLING ELEMENT; XCE X INACTIVATION INTERGENIC TRANSCRIPTION ELEMENT; XITE;; XCA Asterisk 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3 RIBOSOMAL S6 KINASE 2; RSK2;; MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1B; MAPKAPK1B;; MAPKAP KINASE 1B;; ISPK1 Percent 300076 IMMUNONEUROLOGIC DISORDER, X-LINKED WOODS-BLACK-NORBURY SYNDROME Caret 300077 MOVED TO 300419 Asterisk 300078 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 1; NDUFA1 MWFE, B. TAURUS, HOMOLOG OF Asterisk 300079 INHIBITOR OF APOPTOSIS, X-LINKED; XIAP BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; BIRC4;; APOPTOSIS INHIBITOR 3; API3;; IAP-LIKE PROTEIN; ILP;; MAMMALIAN IAP HOMOLOG A; MIHA Asterisk 300080 RNA-BINDING MOTIF PROTEIN 10; RBM10 RNA-BINDING PROTEIN S1-1, RAT, HOMOLOG OF;; DXS8237E Asterisk 300081 DEOXYRIBONUCLEASE I-LIKE 1; DNASE1L1 DNase I, LYSOSOMAL-LIKE; DNL1L;; DNase I-LIKE, MUSCLE-SPECIFIC Percent 300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1 SOCIAL COGNITION Asterisk 300083 PROTEIN KINASE, X-LINKED; PRKX PROTEIN KINASE PKX1; PKX1 Asterisk 300084 NON-POU DOMAIN-CONTAINING OCTAMER-BINDING PROTEIN; NONO NUCLEAR RNA-BINDING PROTEIN, 54-KD; NRB54;; p54NRB;; p54(NRB) NONO/TFE3 FUSION GENE, INCLUDED Percent 300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 CONE DYSTROPHY 2, X-LINKED; COD2 Asterisk 300086 LYSOPHOSPHATIDIC ACID RECEPTOR 4; LPAR4 LPA4;; P2Y5-LIKE RECEPTOR;; PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 9; P2RY9; P2Y9;; G PROTEIN-COUPLED RECEPTOR 23; GPR23 Number Sign 300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1 Number Sign 300088 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR;; JUBERG-HELLMAN SYNDROME Asterisk 300089 ISOCITRATE DEHYDROGENASE 3, GAMMA SUBUNIT; IDH3G ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, GAMMA SUBUNIT Asterisk 300090 SIGNAL SEQUENCE RECEPTOR, DELTA; SSR4 TRANSLOCON-ASSOCIATED PROTEIN, DELTA SUBUNIT; TRAPD Asterisk 300091 FOS-INDUCED GROWTH FACTOR; FIGF VASCULAR ENDOTHELIAL GROWTH FACTOR D; VEGFD Asterisk 300092 TESTIS-EXPRESSED GENE 28; TEX28 CHROMOSOME X OPEN READING FRAME 2; CXORF2 Asterisk 300093 GAMMA-AMINOBUTYRIC ACID RECEPTOR, EPSILON; GABRE GABA-A RECEPTOR, EPSILON POLYPEPTIDE Caret 300094 MOVED TO 600539 Asterisk 300095 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 2; SLC16A2 MONOCARBOXYLATE TRANSPORTER 8; MCT8;; X-LINKED PEST-CONTAINING TRANSPORTER; XPCT;; DXS128E Asterisk 300096 TETRASPANIN 7; TSPAN7 MEMBRANE COMPONENT, X CHROMOSOME, SURFACE MARKER 1; MXS1;; TRANSMEMBRANE PROTEIN A15;; TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2; TM4SF2 Asterisk 300097 MELANOMA ANTIGEN, FAMILY B, 1; MAGEB1 MAGE-LIKE GENE ON Xp; MAGEL1;; DSS/AHC CRITICAL INTERVAL GENE, FROM MAGE SUPERFAMILY, 10; DAM10 Asterisk 300098 MELANOMA ANTIGEN, FAMILY B, 2; MAGEB2 DSS/AHC CRITICAL INTERVAL GENE, FROM MAGE SUPERFAMILY, 6; DAM6 Caret 300099 MOVED TO 300097 Number Sign 300100 ADRENOLEUKODYSTROPHY; ALD ADDISON DISEASE AND CEREBRAL SCLEROSIS;; SIEMERLING-CREUTZFELDT DISEASE;; BRONZE SCHILDER DISEASE;; MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY, INCLUDED; AMN, INCLUDED Asterisk 300101 BONE MARROW KINASE, X-LINKED; BMX PROTEIN TYROSINE KINASE BMX Asterisk 300102 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 4; PNPLA4 GS2 GENE; GS2;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, ETA;; IPLA2-ETA;; DXS1283E Asterisk 300103 SHROOM FAMILY MEMBER 2; SHROOM2 APICAL PROTEIN OF XENOPUS-LIKE; APXL Asterisk 300104 GDP DISSOCIATION INHIBITOR 1; GDI1 RAB GDP-DISSOCIATION INHIBITOR, ALPHA; RABGDIA;; RAB GDI-ALPHA;; RHOGDI;; OLIGOPHRENIN 2; OPHN2 Asterisk 300105 SPERMINE SYNTHASE; SMS Number Sign 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX SEMD, X-LINKED Asterisk 300107 BOMBESIN-LIKE RECEPTOR 3; BRS3 BOMBESIN RECEPTOR SUBTYPE 3 Asterisk 300108 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 2; DIAPH2 DIA;; DIA2 Asterisk 300109 PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 1; PPEF1 PROTEIN PHOSPHATASE, SERINE/THREONINE TYPE, WITH EF-HAND MOTIFS Asterisk 300110 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F Asterisk 300111 PRICKLE, DROSOPHILA, HOMOLOG OF, 3; PRICKLE3 PRICKLE-LIKE 3;; LIM DOMAIN ONLY 6; LMO6 Asterisk 300112 PROTEOLIPID PROTEIN 2; PLP2 PROTEOLIPID PROTEIN, COLONIC EPITHELIUM-ENRICHED;; DIFFERENTIATION-DEPENDENT PROTEIN A4; A4 NULL 300113 X-LINKED B CELL SURFACE ANTIGEN, MOUSE, HOMOLOG-LIKE 1; XLRL Number Sign 300114 RAYNAUD-CLAES SYNDROME; MRXSRC MENTAL RETARDATION, X-LINKED 49; MRX49;; MENTAL RETARDATION, X-LINKED 15; MRX15 Percent 300115 MENTAL RETARDATION, X-LINKED 50; MRX50 Asterisk 300116 MATURE T-CELL PROLIFERATION 1; MTCP1 C6.1B;; p13 Asterisk 300117 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 3; NAP1L3 Asterisk 300118 RHO GTPase-ACTIVATING PROTEIN 6; ARHGAP6 GTPase-ACTIVATING PROTEIN, RHO, 6; RHOGAP6 Asterisk 300119 INTERLEUKIN 13 RECEPTOR, ALPHA-1; IL13RA1 INTERLEUKIN 13 RECEPTOR, ALPHA; IL13RA;; NR4, MOUSE, HOMOLOG OF Asterisk 300120 MASTERMIND-LIKE DOMAIN-CONTAINING PROTEIN 1; MAMLD1 CHROMOSOME X OPEN READING FRAME 6; CXORF6;; F18 GENE; F18 Asterisk 300121 DOUBLECORTIN; DCX DBCN Caret 300122 MOVED TO 300000 Number Sign 300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, INCLUDED; MRGH, INCLUDED Asterisk 300124 GTP-BINDING PROTEIN 6; GTPBP6 PSEUDOAUTOSOMAL GTP-BINDING PROTEIN-LIKE; PGPL Percent 300125 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 2 MGR2;; MFTS Asterisk 300126 DYSKERIN; DKC1 NOPP140-ASSOCIATED PROTEIN, 57-KD; NAP57 Asterisk 300127 OLIGOPHRENIN 1; OPHN1 OPN1 Asterisk 300128 LYSINE-SPECIFIC DEMETHYLASE 6A; KDM6A UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON X CHROMOSOME; UTX NULL 300129 HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF Asterisk 300130 INTERLEUKIN 13 RECEPTOR, ALPHA-2; IL13RA2 Asterisk 300131 PLASTIN 3; PLS3 T-PLASTIN Asterisk 300132 TROPHININ; TRO MELANOMA ANTIGEN, FAMILY D, 3; MAGED3 Asterisk 300133 VON HIPPEL-LINDAU BINDING PROTEIN 1; VBP1 PREFOLDIN 3; PFDN3 Asterisk 300134 DUAL-SPECIFICITY PHOSPHATASE 9; DUSP9 MAP KINASE PHOSPHATASE 4; MKP4 Asterisk 300135 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7 ATP-BINDING CASSETTE 7; ABC7;; ATP-BINDING CASSETTE TRANSPORTER 7;; ABC TRANSPORTER 7 Percent 300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO IDDMX;; INSULIN-DEPENDENT DIABETES MELLITUS, X-LINKED, SUSCEPTIBILITY TO Asterisk 300137 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 1; IGSF1 IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING 1; IGDC1;; INHIBIN-BINDING PROTEIN; INHBP Asterisk 300138 CHLORIDE INTRACELLULAR CHANNEL 2; CLIC2 XAP121 Asterisk 300139 IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1 PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT ALPHA-4;; ALPHA-4 Caret 300140 MOVED TO 600655 Caret 300141 MOVED TO 612725 Asterisk 300142 p21 PROTEIN-ACTIVATED KINASE 3; PAK3 p21 CDC42/RAC1-ACTIVATED KINASE 3;; OLIGOPHRENIN 3; OPHN3 Number Sign 300143 MENTAL RETARDATION, X-LINKED 21; MRX21 MENTAL RETARDATION, X-LINKED 34; MRX34 Asterisk 300144 GLUTAMATE DEHYDROGENASE 2; GLUD2 Asterisk 300145 X-PROLYL AMINOPEPTIDASE 2; XPNPEP2 X-PROLYL AMINOPEPTIDASE, MEMBRANE-BOUND;; AMINOPEPTIDASE P, 2; APP2 Asterisk 300146 CALPAIN 6; CAPN6 Percent 300147 PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1 PROSTATE CANCER SUSCEPTIBILITY, X-LINKED; PCSX Number Sign 300148 MEHMO SYNDROME; MEHMO MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 20; MRXS20;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 25; MRXS25;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK Asterisk 300149 CBP/p300-INTERACTING TRANSACTIVATOR WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 1; CITED1 MELANOCYTE-SPECIFIC GENE 1; MSG1 Asterisk 300150 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A5; SLC25A5 ADENINE NUCLEOTIDE TRANSLOCATOR 2; ANT2;; ADP/ATP TRANSLOCATOR OF FIBROBLASTS;; ADP/ATP TRANSLOCASE 2;; ADP/ATP CARRIER 2; AAC2 Asterisk 300151 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A6; SLC25A6 ADENINE NUCLEOTIDE TRANSLOCATOR 3; ANT3;; ADP/ATP TRANSLOCATOR OF LIVER;; ADP/ATP TRANSLOCASE 3;; ADP/ATP CARRIER 3; AAC3 Asterisk 300152 MELANOMA ANTIGEN, FAMILY B, 3; MAGEB3 Asterisk 300153 MELANOMA ANTIGEN, FAMILY B, 4; MAGEB4 Asterisk 300154 ESX1-LIKE PROTEIN; ESX1L EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEOBOX 1-LIKE PROTEIN;; ESX1-RELATED PROTEIN 1; ESXR1 Percent 300155 RETINITIS PIGMENTOSA 24; RP24 Asterisk 300156 CANCER/TESTIS ANTIGEN 1B; CTAG1B CANCER/TESTIS ANTIGEN 1; CTAG1;; CTAG;; NEW YORK ESOPHAGEAL SQUAMOUS CELL CARCINOMA 1; NYESO1;; LAGE2;; LAGE2B;; LAGE2, TELOMERIC COPY Asterisk 300157 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 4; ACSL4 FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4;; ACYL-CoA SYNTHETASE 4; ACS4 Percent 300158 ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED; ACLLX ARTHROGRYPOSIS, X-LINKED, TYPE V, FORMERLY; AMCX5, FORMERLY Asterisk 300159 THYMOSIN, BETA-4, X CHROMOSOME; TMSB4X THYMOSIN, BETA-4; TMSB4;; TB4X;; PROTHYMOSIN BETA-4; PTMB4 Asterisk 300160 DEAD/H BOX 3, X-LINKED; DDX3X DDX3;; DBX Asterisk 300161 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, GAMMA; EIF2G Asterisk 300162 ACETYLSEROTONIN METHYLTRANSFERASE-LIKE; ASMTL ACETYLSEROTONIN METHYLTRANSFERASE-LIKE, X-LINKED; ASMTLX Asterisk 300163 FOUR-AND-A-HALF LIM DOMAINS 1; FHL1 SLIM1;; FHL1A;; KYOT, MOUSE, HOMOLOG OF FHL1B, INCLUDED;; SLIMMER, INCLUDED;; FHL1C, INCLUDED Asterisk 300164 INACTIVATION ESCAPE 1; INE1 Asterisk 300165 INACTIVATION ESCAPE 2; INE2 Number Sign 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 OCULOFACIOCARDIODENTAL SYNDROME;; OFCD SYNDROME;; MICROPHTHALMIA, CATARACTS, RADICULOMEGALY, AND SEPTAL HEART DEFECTS;; ANOP2, FORMERLY;; MAA2, FORMERLY Asterisk 300167 HEPHAESTIN; HEPH Asterisk 300168 GLYPICAN 4; GPC4 Asterisk 300169 APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 1; AIFM1 APOPTOSIS-INDUCING FACTOR; AIF;; PROGRAMMED CELL DEATH 8; PDCD8 Asterisk 300170 OFD1 GENE; OFD1 CHROMOSOME X OPEN READING FRAME 5; CXORF5 Asterisk 300171 MYOTUBULARIN-RELATED PROTEIN 1; MTMR1 Asterisk 300172 CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK VERTEBRATE LIN2 HOMOLOG; LIN2;; CAMGUK, DROSOPHILA, HOMOLOG OF; CMG Asterisk 300173 MELANOMA ANTIGEN, FAMILY A, 2; MAGEA2 MAGEA2A;; MAGE2 Asterisk 300174 MELANOMA ANTIGEN, FAMILY A, 3; MAGEA3 MAGE3 Asterisk 300175 MELANOMA ANTIGEN, FAMILY A, 4; MAGEA4 MAGE4;; MAGE4a;; MAGE4b Asterisk 300176 MELANOMA ANTIGEN, FAMILY A, 6; MAGEA6 MAGE6 Asterisk 300177 MELANOMA ANTIGEN, FAMILY A, 12; MAGEA12 MAGE12 Asterisk 300178 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 1; ZBED1 BED-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 1;; AC-LIKE TRANSPOSABLE ELEMENT; ALTE;; TRAMP;; DREF, DROSOPHILA, HOMOLOG OF; DREF;; KIAA0785 Percent 300179 X INACTIVATION, FAMILIAL SKEWED, 2; SXI2 Asterisk 300180 ARYLSULFATASE E; ARSE Asterisk 300181 X INACTIVATION-SPECIFIC TRANSCRIPT-ANTISENSE; TSIX XIST-ANTISENSE Asterisk 300182 MEDIATOR COMPLEX SUBUNIT 14; MED14 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 2; CRSP2;; CRSP, 150-KD SUBUNIT; CRSP150;; CHROMOSOME X OPEN READING FRAME 4; CXORF4;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN; TRAP170;; EXLM1;; RGR1 Caret 300183 MOVED TO 302060 NULL 300184 HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES Asterisk 300185 A-KINASE ANCHOR PROTEIN 4; AKAP4 A-KINASE ANCHOR PROTEIN, 82-KD; AKAP82;; TESTIS-SPECIFIC GENE HI; HI;; FSC1, MOUSE, HOMOLOG OF Asterisk 300186 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, X-LINKED; EIF1AX EUKARYOTIC TRANSLATION INITIATION FACTOR 1A; EIF1A;; EUKARYOTIC TRANSLATION INITIATION FACTOR 4C; EIF4C Asterisk 300187 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED; SRPX SRPX1;; ETX1 Asterisk 300188 MEDIATOR COMPLEX SUBUNIT 12; MED12 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 11; TNRC11;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT; TRAP230;; HUMAN OPPOSITE PAIRED GENE; HOPA;; KIAA0192 Asterisk 300189 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3; DLG3 NEUROENDOCRINE DLG; NEDLG;; SYNAPSE-ASSOCIATED PROTEIN 102; SAP102 Asterisk 300190 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN; SH3BGRL SH3BGR-LIKE PROTEIN Asterisk 300191 TETRASPANIN 6; TSPAN6 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 6; TM4SF6 Asterisk 300192 SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2 SARCOMA, SYNOVIAL, X-CHROMOSOME-RELATED 2 SSX2-SYT FUSION GENE, INCLUDED Asterisk 300193 HIGH MOBILITY GROUP BOX 3; HMGB3 HIGH MOBILITY GROUP PROTEIN 4; HMG4;; NONHISTONE CHROMOSOMAL PROTEIN HMG4;; CHROMOSOMAL PROTEIN, NONHISTONE, HMG4;; HMG2A Number Sign 300194 AMME COMPLEX ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS;; ATS-MR;; CHROMOSOME Xq22.3 TELOMERIC DELETION SYNDROME Asterisk 300195 AMME CHROMOSOME REGION GENE 1; AMMECR1 Asterisk 300196 TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X TRANSDUCIN-BETA-LIKE 1; TBL1;; EBI, DROSOPHILA, HOMOLOG OF; EBI Asterisk 300197 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 1; ATP6AP1 ATP6IP1;; ATP6S1;; VACUOLAR ATPase SUBUNIT 1; VATPS1;; Ac45 Asterisk 300198 GLYCOGENIN 2; GYG2 GN2 Asterisk 300199 RNA-BINDING MOTIF PROTEIN, X CHROMOSOME; RBMX HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN G; HNRNPG RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, RETROGENE, INCLUDED; RBMXRT, INCLUDED;; RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, PSEUDOGENE 1, INCLUDED; RBMXP1, INCLUDED Number Sign 300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH;; ADDISON DISEASE, X-LINKED; AHX;; AHC WITH HHG;; CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA;; AHC WITH ISOLATED GONADOTROPIN DEFICIENCY Asterisk 300201 CYSTEINYL LEUKOTRIENE RECEPTOR 1; CYSLTR1 CYSLT1;; CYSLT1R Asterisk 300202 TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2 SEDLIN; SEDL Asterisk 300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5 SERINE/THREONINE PROTEIN KINASE 9; STK9 Asterisk 300204 MIDLINE 2; MID2 MIDIN 2 Asterisk 300205 EMOPAMIL-BINDING PROTEIN; EBP 3-BETA-HYDROXYSTEROID-DELTA-8,DELTA-7 ISOMERASE Asterisk 300206 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1 INTERLEUKIN 1 RECEPTOR 8; IL1R8 IL1RAPL1/DMD FUSION GENE, INCLUDED Asterisk 300207 G PROTEIN-COUPLED RECEPTOR 50; GPR50 H9 Asterisk 300208 SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG-LIKE 2; SCML2 Number Sign 300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2 Number Sign 300210 MENTAL RETARDATION, X-LINKED 58; MRX58 Percent 300211 EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX Asterisk 300212 REGUCALCIN; RGN SENESCENCE MARKER PROTEIN 30; SMP30 Asterisk 300213 CAAX BOX PROTEIN 1; CXX1 Asterisk 300214 PLEXIN B3; PLXNB3 PLEXIN 6; PLXN6 Number Sign 300215 LISSENCEPHALY, X-LINKED, 2; LISX2 LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG;; XLISG HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED NULL 300216 COATS DISEASE RETINAL TELANGIECTASIS Asterisk 300217 RETINOIC ACID-INDUCED 2; RAI2 Percent 300218 MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7 AHMAD X-LINKED MENTAL RETARDATION SYNDROME Number Sign 300219 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT Caret 300220 MOVED TO 300438 Percent 300221 LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL Asterisk 300222 INTEGRAL MEMBRANE PROTEIN 2A; ITM2A E25A Asterisk 300223 MELANOMA ANTIGEN, FAMILY C, 1; MAGEC1 Asterisk 300224 MELANOMA ANTIGEN, FAMILY D, 1; MAGED1 NEUROTROPHIN RECEPTOR-INTERACTING MAGE HOMOLOG; NRAGE;; DLXIN1 Asterisk 300225 NADPH OXIDASE 1; NOX1 NADPH OXIDASE HOMOLOG 1; NOH1;; MITOGENIC OXIDASE 1; MOX1;; GP91-2 Asterisk 300226 SMALL MUSCLE PROTEIN, X-LINKED; SMPX CHISEL, MOUSE, HOMOLOG OF; CSL Asterisk 300227 SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG-LIKE 1; SCML1 Percent 300228 TESTICULAR GERM CELL TUMOR 1; TGCT1 Asterisk 300229 VARIABLY CHARGED, X CHROMOSOME; VCX VCX1;; VARIABLY CHARGED, X CHROMOSOME, WITH 10 REPEATS; VCX10R;; VARIABLY CHARGED, X CHROMOSOME, B1; VCXB1 Asterisk 300230 CARBONIC ANHYDRASE VB, MITOCHONDRIAL; CA5B CA VB Asterisk 300231 SOLUTE CARRIER FAMILY 9, MEMBER 6; SLC9A6 SODIUM/HYDROGEN EXCHANGER 6; NHE6 NULL 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION SEMD, X-LINKED, WITH MENTAL DETERIORATION NULL 300233 RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES, AND SEVERE MALFORMATIONS IN THE MALE Asterisk 300234 UBIQUITOUSLY EXPRESSED TRANSCRIPT; UXT Asterisk 300235 ZINC FINGER-ENCODING GENE, X-LINKED, DUPLICATED, A; ZXDA Asterisk 300236 ZINC FINGER-ENCODING GENE, X-LINKED, DUPLICATED, B; ZXDB Asterisk 300237 TRANSCRIPTION ELONGATION FACTOR A-LIKE 1; TCEAL1 TCEA-LIKE 1;; p21;; SII-RELATED GENE; SIIR Number Sign 300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 SHASHI X-LINKED MENTAL RETARDATION SYNDROME; SMRXS;; MENTAL RETARDATION, X-LINKED, SHASHI TYPE Asterisk 300239 EPIDERMAL GROWTH FACTOR-LIKE 6; EGFL6 EGF-LIKE 6;; MAM- AND EGF-CONTAINING GENE; MAEG Caret 300240 MOVED TO 305000 Asterisk 300241 G PROTEIN-COUPLED RECEPTOR 34; GPR34 Asterisk 300242 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, BRAIN), MEMBER 14; SLC25A14 BRAIN MITOCHONDRIAL CARRIER PROTEIN 1; BMCP1;; UNCOUPLING PROTEIN 5; UCP5 Number Sign 300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH ANGELMAN-LIKE SYNDROME, X-LINKED;; MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME Number Sign 300244 TERMINAL OSSEOUS DYSPLASIA; TOD TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; TODPD;; ODPD;; OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; ODPF;; ODPF SYNDROME Percent 300245 PTOSIS, HEREDITARY CONGENITAL 2 PTOS2;; PTOSIS, X-LINKED; PTOSX Asterisk 300246 PROTOCADHERIN 11, X-LINKED; PCDH11X PROTOCADHERIN, X CHROMOSOME; PCDHX;; PROTOCADHERIN 11, FORMERLY; PCDH11, FORMERLY Asterisk 300247 BONE MORPHOGENETIC PROTEIN 15; BMP15 GROWTH/DIFFERENTIATION FACTOR 9B; GDF9B Asterisk 300248 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE OF, GAMMA; IKBKG NF-KAPPA-B ESSENTIAL MODULATOR; NEMO;; IKK-GAMMA;; FIP3 Asterisk 300249 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF, B; TIMM17B TIM17B Caret 300250 MOVED TO 202200 Caret 300251 MOVED TO 605875 Asterisk 300252 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 4; PIN4 PARVULIN 14; PAR14;; EPVH Asterisk 300253 G PROTEIN-COUPLED RECEPTOR 173; GPR173 SUPERCONSERVED RECEPTOR EXPRESSED IN BRAIN 3; SREB3 Asterisk 300254 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1 SU(VAR)3-9, DROSOPHILA, HOMOLOG OF, 1 Asterisk 300255 O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT UDP-N-ACETYLGLUCOSAMINE:POLYPEPTIDE BETA-N-ACETYLGLUCOSAMINYL TRANSFERASE;; GlcNAc TRANSFERASE Asterisk 300256 17-BETA-HYDROXYSTEROID DEHYDROGENASE X; HSD17B10 HSD10;; HYDROXYACYL-CoA DEHYDROGENASE II; HADH2;; 3-HYDROXYACYL-CoA DEHYDROGENASE II;; AMYLOID BETA-BINDING POLYPEPTIDE ERAB; ERAB;; 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE; MHBD;; AMYLOID BETA-BINDING ALCOHOL DEHYDROGENASE; ABAD;; 3-HYDROXYACYL-CoA DEHYDROGENASE, SHORT CHAIN; SCHAD;; MITOCHONDRIAL RIBONUCLEASE P PROTEIN 2; MRPP2 Number Sign 300257 DANON DISEASE VACUOLAR CARDIOMYOPATHY AND MYOPATHY, X-LINKED;; PSEUDOGLYCOGENOSIS II;; ANTOPOL DISEASE;; LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY;; GLYCOGEN STORAGE DISEASE IIb; GSD2B, FORMERLY;; GSD IIb, FORMERLY Caret 300258 MOVED TO 616651 NULL 300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED MTBSX Number Sign 300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL MECP2 DUPLICATION SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, LUBS TYPE;; MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS Percent 300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE Percent 300262 ABIDI X-LINKED MENTAL RETARDATION SYNDROME; MRXSAB MENTAL RETARDATION, X-LINKED, SYNDROMIC, ABIDI TYPE Number Sign 300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD MENTAL RETARDATION, X-LINKED, SYNDROMIC, SIDERIUS TYPE;; SIDERIUS-HAMEL SYNDROME Asterisk 300264 UBIQUILIN 2; UBQLN2 PLIC2, MOUSE, HOMOLOG OF; PLIC2;; CHAP1 Asterisk 300265 ZIC FAMILY, MEMBER 3; ZIC3 ZINC FINGER PROTEIN OF CEREBELLUM 3;; HTX1 Percent 300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16 Asterisk 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6 PAK-INTERACTING EXCHANGE FACTOR, ALPHA; PIXA;; ALPHA-PIX;; COOL2 Caret 300268 MOVED TO 610618 Asterisk 300269 HISTONE DEACETYLASE 8; HDAC8 NULL 300270 ADRENOMYODYSTROPHY Number Sign 300271 MENTAL RETARDATION, X-LINKED 72; MRX72 Asterisk 300272 HISTONE DEACETYLASE 6; HDAC6 KIAA0901 Percent 300273 GOITER, MULTINODULAR 2; MNG2 Caret 300274 MOVED TO 300068 Asterisk 300275 NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN; NSDHL Asterisk 300276 ECTODYSPLASIN A2 RECEPTOR; EDA2R ECTODYSPLASIN RECEPTOR, X-LINKED; XEDAR;; ECTODYSPLASIN A2 ISOFORM RECEPTOR;; EDA-A2 RECEPTOR;; EDA-A2R Asterisk 300277 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 2; IL1RAPL2 INTERLEUKIN 1 RECEPTOR 9; IL1R9 Asterisk 300278 NYCTALOPIN; NYX Caret 300279 MOVED TO 300260 Number Sign 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU FCMS;; FACIOCARDIOMUSCULOSKELETAL SYNDROME, URUGUAY TYPE Asterisk 300281 POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 1; KCND1 Kv4.1 Asterisk 300282 ECTO-NOX DISULFIDE-THIOL EXCHANGER 2; ENOX2 CYTOSOLIC OVARIAN CARCINOMA ANTIGEN 1; COVA1 Asterisk 300283 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1; IRAK1 IRAK Asterisk 300284 RAS-ASSOCIATED PROTEIN RAB9; RAB9 Asterisk 300285 RAS-ASSOCIATED PROTEIN 9B; RAB9B RAS-ASSOCIATED PROTEIN RAB9-LIKE; RAB9L Asterisk 300286 KRUPPEL-LIKE FACTOR 8; KLF8 ZINC FINGER PROTEIN 741; ZNF741;; BASIC KRUPPEL-LIKE FACTOR 3; BKLF3 Asterisk 300287 P ANTIGEN FAMILY, MEMBER 4; PAGE4 PROSTATE-ASSOCIATED GENE 4;; G ANTIGEN, FAMILY C, 1; GAGEC1;; GAGE9;; JM27;; PROSTATE-ASSOCIATED GENE 1, FORMERLY; PAGE1, FORMERLY Asterisk 300288 P ANTIGEN FAMILY, MEMBER 1; PAGE1 PROSTATE-ASSOCIATED GENE 1;; G ANTIGEN, FAMILY B, 1; GAGEB1 Asterisk 300289 X ANTIGEN FAMILY, MEMBER 1D; XAGE1D XAGE1;; G ANTIGEN, FAMILY D, 2; GAGED2 Caret 300290 MOVED TO 614732 Number Sign 300291 ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY;; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY; HEDID;; HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA; XHMED Asterisk 300292 FORKHEAD BOX P3; FOXP3 SCURFIN;; JM2 Caret 300293 MOVED TO 301410 Asterisk 300294 MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 2; MBTPS2 SITE-2 PROTEASE; S2P Asterisk 300295 ONCOGENE PIM2; PIM2 SERINE/THREONINE PROTEIN KINASE PIM2 Asterisk 300296 PLACENTA-SPECIFIC GENE 1; PLAC1 Asterisk 300297 APELIN; APLN APJ RECEPTOR LIGAND Asterisk 300298 UPF3, YEAST, HOMOLOG OF, B; UPF3B REGULATOR OF NONSENSE TRANSCRIPTS 3B; RENT3B;; UPF3X Number Sign 300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX XLN Asterisk 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK AGAMMAGLOBULINEMIA TYROSINE KINASE; ATK;; B-CELL PROGENITOR KINASE; BPK Number Sign 300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID Asterisk 300302 DYNEIN, LIGHT CHAIN, TCTEX TYPE, 3; DYNLT3 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE; TCTE1L Asterisk 300303 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 6; RPS6KA6 RIBOSOMAL S6 KINASE 4; RSK4 Asterisk 300304 CULLIN 4B; CUL4B KIAA0695 Asterisk 300305 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER A1; SPANXA1 SPANX;; SPANX FAMILY, MEMBER A1 Percent 300306 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11; BMIQ11 OBESITY, SUSCEPTIBILITY TO Asterisk 300307 T-BOX 22; TBX22 Asterisk 300308 FERRITIN HEAVY POLYPEPTIDE-LIKE 17; FTHL17 Asterisk 300309 UBIQUITIN-SPECIFIC PROTEASE 26; USP26 Number Sign 300310 IMMUNODEFICIENCY 61; IMD61 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2;; XLA2 Asterisk 300311 TESTIS-EXPRESSED GENE 11; TEX11 Asterisk 300312 TESTIS-EXPRESSED GENE 13A; TEX13A Asterisk 300313 TESTIS-EXPRESSED GENE 13B; TEX13B Asterisk 300314 TAF7-LIKE RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 50-KD; TAF7L TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR Q; TAF2Q Asterisk 300315 NUCLEAR RNA EXPORT FACTOR 2; NXF2 Asterisk 300316 NUCLEAR RNA EXPORT FACTOR 3; NXF3 Asterisk 300317 RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 2; REPS2 PARTNER OF RALBP1; POB1 Asterisk 300318 NUCLEAR RNA EXPORT FACTOR 4; NXF4 Asterisk 300319 NUCLEAR RNA EXPORT FACTOR 5; NXF5 Asterisk 300320 NTF2-LIKE EXPORT FACTOR 2; NXT2 Number Sign 300321 FG SYNDROME 2; FGS2 Number Sign 300322 LESCH-NYHAN SYNDROME; LNS HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY;; HPRT1 DEFICIENCY;; HPRT DEFICIENCY;; HPRT DEFICIENCY, COMPLETE HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED;; LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT, INCLUDED Number Sign 300323 KELLEY-SEEGMILLER SYNDROME GOUT, HPRT-RELATED;; HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL;; HPRT DEFICIENCY, PARTIAL;; HPRT1 DEFICIENCY, PARTIAL Percent 300324 MENTAL RETARDATION, X-LINKED 53; MRX53 Asterisk 300325 SYNOVIAL SARCOMA, X BREAKPOINT 3; SSX3 Asterisk 300326 SYNOVIAL SARCOMA, X BREAKPOINT 4; SSX4 Asterisk 300327 SYNOVIAL SARCOMA, X BREAKPOINT 5; SSX5 Asterisk 300328 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED FAMILY, MEMBER 1-LIKE; KCNE1L KCNE5 Asterisk 300329 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 33; ZBTB33 KAISO GENE; KAISO Asterisk 300330 SPANX FAMILY, MEMBER C; SPANXC SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER C;; CTP11 Percent 300331 THROMBOCYTHEMIA, X-LINKED; THCYTX THROMBOCYTOSIS, X-LINKED Asterisk 300332 INTEGRIN, BETA-1, BINDING PROTEIN OF, 2; ITGB1BP2 MELUSIN Asterisk 300333 RAS-ASSOCIATED PROTEIN RAB33A; RAB33A Asterisk 300334 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 5; TRPC5 TRANSIENT RECEPTOR POTENTIAL CHANNEL 5;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 5; TRP5 Asterisk 300335 ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2 ACEH Asterisk 300336 NEUROLIGIN 3; NLGN3 Number Sign 300337 HYPOMELANOSIS OF ITO; HMI INCONTINENTIA PIGMENTI ACHROMIANS; IPA;; ITO HYPOMELANOSIS; ITO;; INCONTINENTIA PIGMENTI, TYPE I, FORMERLY; IP1, FORMERLY Asterisk 300338 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-2; CNGA2 CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 2; CNG2;; OCNC1, MOUSE, HOMOLOG OF; OCNC1 Asterisk 300339 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, BETA; PPP2R3B PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT, 48-KD; PR48 Asterisk 300340 MELANOMA ANTIGEN, FAMILY A, 5; MAGEA5 MAGE5 Asterisk 300341 MELANOMA ANTIGEN, FAMILY A, 8; MAGEA8 MAGE8 Asterisk 300342 MELANOMA ANTIGEN, FAMILY A, 9; MAGEA9 MAGE9 Asterisk 300343 MELANOMA ANTIGEN, FAMILY A, 10; MAGEA10 MAGE10 Asterisk 300344 MELANOMA ANTIGEN, FAMILY A, 11; MAGEA11 MAGE11 Percent 300345 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1 MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 1 Asterisk 300346 HIV-1 TAT STIMULATORY FACTOR 1; HTATSF1 TATSF1 Asterisk 300347 EARLY LYMPHOID ACTIVATION GENE EPAG Asterisk 300348 KELCH-LIKE 4; KLHL4 Asterisk 300349 GAMMA-AMINOBUTYRIC ACID RECEPTOR, THETA; GABRQ GABA-A RECEPTOR, THETA POLYPEPTIDE Asterisk 300350 CHORDIN-LIKE 1; CHRDL1 VENTROPTIN; VOPT Percent 300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2, INCLUDED; GRDX2, INCLUDED Number Sign 300352 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 CREATINE DEFICIENCY SYNDROME, X-LINKED;; CREATINE TRANSPORTER DEFECT;; MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACE HYPOPLASIA;; MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY Asterisk 300353 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 4; VSIG4 IMMUNOGLOBULIN SUPERFAMILY PROTEIN Z39IG; Z39IG;; COMPLEMENT RECEPTOR OF THE IMMUNOGLOBULIN SUPERFAMILY; CRIG Number Sign 300354 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC CABEZAS SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;; MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT;; MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE; MRSS Percent 300355 MENTAL RETARDATION, X-LINKED 73; MRX73 Asterisk 300356 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; TIMM8A DEAFNESS/DYSTONIA PEPTIDE; DDP;; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1;; DFN1, FORMERLY Asterisk 300357 CYTOKINE RECEPTOR-LIKE FACTOR 2; CRLF2 CRL2;; THYMIC STROMAL LYMPHOPOIETIN RECEPTOR; TSLPR CRLF2/P2RY8 FUSION GENE, INCLUDED Asterisk 300358 PROTEIN KINASE, LYSINE-DEFICIENT 3; WNK3 PRKWNK3;; KIAA1566 Asterisk 300359 SARCOMA ANTIGEN 1; SAGE1 SAGE Caret 300360 MOVED TO 300354 Asterisk 300361 NERVE GROWTH FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; NGFRAP1 NGFR-ASSOCIATED PROTEIN 1;; p75(NTR)-ASSOCIATED CELL DEATH EXECUTOR; NADE;; BRAIN-EXPRESSED X-LINKED GENE 3; BEX3 Asterisk 300362 ARMADILLO REPEAT CONTAINING, X-LINKED 1; ARMCX3 ARM PROTEIN LOST IN EPITHELIAL CANCERS, X CHROMOSOME, 1; ALEX1 Asterisk 300363 ARMADILLO REPEAT CONTAINING, X-LINKED 2; ARMCX2 ARM PROTEIN LOST IN EPITHELIAL CANCERS, X CHROMOSOME, 2; ALEX2;; KIAA0512 Asterisk 300364 ARMADILLO REPEAT CONTAINING, X-LINKED 3; ARMCX3 ARM PROTEIN LOST IN EPITHELIAL CANCERS, X CHROMOSOME, 3; ALEX3 Asterisk 300365 TOLL-LIKE RECEPTOR 7; TLR7 Asterisk 300366 TOLL-LIKE RECEPTOR 8; TLR8 Number Sign 300367 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA Asterisk 300368 SOLUTE CARRIER FAMILY 9, MEMBER 7; SLC9A7 SODIUM/HYDROGEN EXCHANGER 7; NHE7 Asterisk 300369 ACIDIC REPEAT-CONTAINING GENE; ACRC Asterisk 300370 3-PRIME REPAIR EXONUCLEASE 2; TREX2 Asterisk 300371 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1 ADRENOLEUKODYSTROPHY PROTEIN; ALDP Percent 300372 MENTAL RETARDATION, X-LINKED 42; MRX42 Number Sign 300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS HYPEROSTOSIS GENERALISATA WITH STRIATIONS Asterisk 300374 SH3-DOMAIN KINASE-BINDING PROTEIN 1; SH3KBP1 CBL-INTERACTING PROTEIN, 85-KD; CIN85 Asterisk 300375 CARBOHYDRATE SULFOTRANSFERASE 7; CHST7 CHONDROITIN 6-SULFOTRANSFERASE 2; C6ST2 Number Sign 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD BECKER MUSCULAR DYSTROPHY;; MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE Asterisk 300377 DYSTROPHIN; DMD APO-DYSTROPHIN 1, INCLUDED Percent 300378 RADIAL RAY DEFICIENCY, X-LINKED RRDX Asterisk 300379 RING FINGER PROTEIN, LIM DOMAIN-INTERACTING; RLIM RING FINGER PROTEIN 12; RNF12;; RING ZINC FINGER PROTEIN NY-REN-43 ANTIGEN Asterisk 300380 CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2; CTPS2 CTP SYNTHETASE 2;; CTP SYNTHASE 2 Asterisk 300381 ZINC FINGER PROTEIN 185; ZNF185 Asterisk 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX Asterisk 300383 COMPLEMENT FACTOR PROPERDIN; CFP PROPERDIN P FACTOR, COMPLEMENT; PFC;; PROPERDIN;; FACTOR P Asterisk 300384 EMERIN; EMD STA Asterisk 300385 NUCLEOSOMAL BINDING PROTEIN 1; NSBP1 Asterisk 300386 CD40 LIGAND; CD40LG CD40 ANTIGEN LIGAND; CD40L;; CD154;; TNF-RELATED ACTIVATION PROTEIN; TRAP;; TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TNFSF5;; GP39 Number Sign 300387 MENTAL RETARDATION, X-LINKED 63; MRX63 MENTAL RETARDATION, X-LINKED 68; MRX68 Percent 300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX PMGX;; BPP;; PERISYLVIAN SYNDROME, CONGENITAL BILATERAL; CBPS Caret 300389 MOVED TO 300029 Asterisk 300390 CHM GENE; CHM RAB ESCORT PROTEIN 1; REP1;; RAB GERANYLGERANYLTRANSFERASE, COMPONENT A;; RAB GG TRANSFERASE;; GGTA Asterisk 300391 AMELOGENIN; AMELX ALGN;; AMG;; AMGL Asterisk 300392 WAS GENE; WAS WAS PROTEIN; WASP Asterisk 300393 G PROTEIN-COUPLED RECEPTOR 101; GPR101 GPCR101 Asterisk 300394 TAFAZZIN; TAZ G4.5 Asterisk 300395 THO COMPLEX, SUBUNIT 2; THOC2 THO2, YEAST, HOMOLOG OF; THO2 Asterisk 300396 CANCER/TESTIS ANTIGEN 2; CTAG2 LAGE1;; CTL-RECOGNIZED ANTIGEN ON MELANOMA; CAMEL Caret 300397 MOVED TO 300352 Asterisk 300398 B-CELL RECEPTOR-ASSOCIATED PROTEIN 31; BCAP31 BAP31;; DXS1357E Asterisk 300399 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1, INHIBITOR OF: PCSK1N PROSAAS Number Sign 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE;; SCIDX; XSCID;; SCID, X-LINKED;; IMMUNODEFICIENCY 4; IMD4 Asterisk 300401 PROTEOLIPID PROTEIN 1; PLP1 PROTEOLIPID PROTEIN, MYELIN; PLP;; LIPOPHILIN DM20, INCLUDED Asterisk 300402 LEUCINE ZIPPER, DOWNREGULATED IN CANCER 1; LDOC1 Asterisk 300403 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 11; NDUFB11 NADH DEHYDROGENASE 1 BETA SUBCOMPLEX, 11 NEURONAL PROTEIN, 17.3-KD;; p17.3 Caret 300404 MOVED TO 308205 Asterisk 300405 RAS-ASSOCIATED PROTEIN RAB40A-LIKE; RAB40AL RAS-LIKE GTPase GENE; RLGP Percent 300406 FG SYNDROME 3; FGS3 Asterisk 300407 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 5; PABPC5 POLYADENYLATE-BINDING PROTEIN 5; PABP5;; POLY(A)-BINDING PROTEIN 5 Asterisk 300408 GRIP1-ASSOCIATED PROTEIN 1; GRIPAP1 GRASP1;; KIAA1167 Asterisk 300409 MORTALITY FACTOR 4-LIKE PROTEIN 2; MORF4L2 MORF4-LIKE PROTEIN 2;; MORF-RELATED GENE X; MRGX;; KIAA0026 Asterisk 300410 ANGIOMOTIN; AMOT KIAA1071 Asterisk 300411 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, X-LINKED; TGIF2LX TGIFLX Caret 300412 MOVED TO 300166 Asterisk 300413 MUSCLEBLIND-LIKE SPLICING REGULATOR 3; MBNL3 MUSCLEBLIND-LIKE PROTEIN 3;; MUSCLEBLIND-LIKE PROTEIN, X-LINKED; MBXL Asterisk 300414 PHD FINGER PROTEIN 6; PHF6 Asterisk 300415 MYOTUBULARIN; MTM1 Asterisk 300416 X ANTIGEN FAMILY, MEMBER 2; XAGE2 G ANTIGEN, FAMILY D, 3; GAGED3 Asterisk 300417 G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 1; GPRASP1 GASP1;; G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN; GASP;; KIAA0443 Asterisk 300418 G1- TO S-PHASE TRANSITION 2; GSPT2 GST2, YEAST, HOMOLOG OF; GST2;; PEPTIDE CHAIN RELEASE FACTOR 3B; ERF3B Number Sign 300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX MENTAL RETARDATION, X-LINKED 29; MRX29;; MENTAL RETARDATION, X-LINKED 32; MRX32;; MENTAL RETARDATION, X-LINKED 33; MRX33;; MENTAL RETARDATION, X-LINKED 38; MRX38;; MENTAL RETARDATION, X-LINKED 43; MRX43;; MENTAL RETARDATION, X-LINKED 52; MRX52;; MENTAL RETARDATION, X-LINKED 54; MRX54;; MENTAL RETARDATION, X-LINKED 76; MRX76;; MENTAL RETARDATION, X-LINKED 87; MRX87 Asterisk 300420 PRAJA 1; PJA1 Caret 300421 MOVED TO 194190 Number Sign 300422 FG SYNDROME 4; FGS4 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS, INCLUDED Number Sign 300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; MRXE Number Sign 300424 RETINITIS PIGMENTOSA 23; RP23 Number Sign 300425 AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1 Caret 300426 MOVED TO 300143 Asterisk 300427 NEUROLIGIN 4; NLGN4 NL4;; KIAA1260 Percent 300428 MENTAL RETARDATION, X-LINKED 2; MRX2 Asterisk 300429 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9 PEM2;; COLLYBISTIN;; KIAA0424 Caret 300430 MOVED TO 300419 NULL 300431 ATKIN-FLAITZ SYNDROME ATKIN SYNDROME Caret 300432 MOVED TO 308350 Percent 300433 MENTAL RETARDATION, X-LINKED 81; MRX81 Number Sign 300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX MENTAL RETARDATION, X-LINKED, STOCCO DOS SANTOS TYPE Asterisk 300435 PROGESTERONE RECEPTOR MEMBRANE COMPONENT 1; PGRMC1 Percent 300436 MENTAL RETARDATION, X-LINKED 46; MRX46 Asterisk 300437 EMBRYONIC STEM CELL-EXPRESSED RAS; ERAS V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG 2; HRAS2;; V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG PSEUDOGENE, FORMERLY; HRASP, FORMERLY Number Sign 300438 HSD10 MITOCHONDRIAL DISEASE; HSD10MD HSD17B10 DEFICIENCY;; 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY;; 3-HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY;; 2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY;; MHBD DEFICIENCY;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10;; CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR; CAMR;; MENTAL RETARDATION WITH CHORIOATHETOSIS AND ABNORMAL BEHAVIOR Asterisk 300439 RING FINGER PROTEIN 128; RNF128 GENE RELATED TO ANERGY IN LYMPHOCYTES; GRAIL Asterisk 300440 NFKB-REPRESSING FACTOR; NKRF NRF;; NUCLEAR FACTOR KAPPA-B-REPRESSING FACTOR;; ITBA4 Asterisk 300441 SH3 PROTEIN EXPRESSED IN LYMPHOCYTES SLY;; HEMATOPOIETIC ADAPTOR CONTAINING SH3 AND SAM DOMAINS 2; HACS2;; CHROMOSOME X OPEN READING FRAME 9; CXORF9 Caret 300442 MOVED TO 311900 Asterisk 300443 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 3; SLC7A3 CATIONIC AMINO ACID TRANSPORTER 3; CAT3 Asterisk 300444 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 14; SLC6A14 AMINO ACID TRANSPORTER B(0+);; ATB(0+) Asterisk 300445 H2A HISTONE FAMILY, MEMBER B3; H2AFB3 H2A HISTONE FAMILY, MEMBER B; H2AFB;; H2A HISTONE, BARR BODY-DEFICIENT; H2ABBD Asterisk 300446 RHOX HOMEOBOX FAMILY, MEMBER 1; RHOXF1 OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE; OTEX;; HOMEOBOX PROTEIN, PEPP SUBFAMILY, 1; PEPP1 Asterisk 300447 RHOX HOMEOBOX FAMILY, MEMBER 2; RHOXF2 HOMEOBOX PROTEIN, PEPP SUBFAMILY, 2; PEPP2 Number Sign 300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS HEMOGLOBIN H DISEASE, ACQUIRED Caret 300449 MOVED TO 300448 Asterisk 300450 FETAL AND ADULT TESTIS-EXPRESSED GENE 1; FATE1 FATE Asterisk 300451 ECTODYSPLASIN A; EDA ECTODYSPLASIN;; EDA1 GENE;; ED1 GENE; ED1 ECTODYSPLASIN A1 ISOFORM, INCLUDED;; EDA-A1, INCLUDED;; ECTODYSPLASIN A2 ISOFORM, INCLUDED;; EDA-A2, INCLUDED Asterisk 300452 INHIBITOR OF GROWTH, X-LINKED; INGX INHIBITOR OF GROWTH 2, FORMERLY; ING2, FORMERLY Asterisk 300453 FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A XAP5 GENE;; DXS9928E;; HXC26;; 9F Percent 300454 MENTAL RETARDATION, X-LINKED 77; MRX77 Number Sign 300455 RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS Asterisk 300456 CYCLIN B3; CCNB3 CCNB3/BCOR FUSION GENE, INCLUDED Asterisk 300457 NHS GENE; NHS Caret 300458 MOVED TO 300055 Asterisk 300459 TENOMODULIN; TNMD TEM;; CHONDROMODULIN I-LIKE; CHM1L;; CHM1-LIKE Asterisk 300460 PROTOCADHERIN 19; PCDH19 KIAA1313 Asterisk 300461 ORNITHINE CARBAMOYLTRANSFERASE; OTC ORNITHINE TRANSCARBAMYLASE Asterisk 300462 A-KINASE ANCHOR PROTEIN 14; AKAP14 A-KINASE ANCHOR PROTEIN, 28-KD; AKAP28 Asterisk 300463 POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1 NUCLEAR PROTEIN CONTAINING A WW DOMAIN, 38-KD; NPW38 Percent 300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3 CHDS3 Caret 300465 MOVED TO 301040 Asterisk 300466 MELANOMA ANTIGEN, FAMILY B, 5; MAGEB5 Asterisk 300467 MELANOMA ANTIGEN, FAMILY B, 6; MAGEB6 Asterisk 300468 MELANOMA ANTIGEN, FAMILY C, 2; MAGEC2 CANCER-TESTIS ANTIGEN 10; CT10;; HCA587;; MELANOMA ANTIGEN, FAMILY E, 1, FORMERLY; MAGEE1, FORMERLY Asterisk 300469 MELANOMA ANTIGEN, FAMILY C, 3; MAGEC3 Asterisk 300470 MELANOMA ANTIGEN, FAMILY D, 2; MAGED2 MAGED Percent 300471 CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES Number Sign 300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA MENTAL RETARDATION, X-LINKED, SYNDROMIC 28; MRXS28 Asterisk 300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 DSS-AHC CRITICAL REGION ON THE X CHROMOSOME 1, GENE 1; DAX1 Asterisk 300474 GLYCEROL KINASE; GK ATP:GLYCEROL PHOSPHOTRANSFERASE Number Sign 300475 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME, INCLUDED; CADDS, INCLUDED Number Sign 300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 Asterisk 300477 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER A; FAM9A Asterisk 300478 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER B; FAM9B Asterisk 300479 FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER C; FAM9C Asterisk 300480 TAK1-BINDING PROTEIN 3; TAB3 TGF-BETA-ACTIVATED KINASE 1/MAP3K7-BINDING PROTEIN 3;; TAK1/MAP3K7-BINDING PROTEIN 3;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 3; MAP3K7IP3;; NF-KAPPA-B-ACTIVATING PROTEIN 1; NAP1 Asterisk 300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB CYTOCHROME b(558), BETA SUBUNIT;; p91-PHOX;; NADPH OXIDASE 2; NOX2;; GP91-1 Asterisk 300482 GRB2-ASSOCIATED BINDING PROTEIN 3; GAB3 Caret 300483 MOVED TO 300031 Percent 300484 OROFACIODIGITAL SYNDROME VIII; OFD8 OFDS VIII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE VIII;; ORAL-FACIAL-DIGITAL SYNDROME WITH HYPOPLASTIC EPIGLOTTIS;; EDWARDS SYNDROME Asterisk 300485 BCL6 COREPRESSOR; BCOR KIAA1575 BCOR/CCNB3 FUSION GENE, INCLUDED Number Sign 300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE MENTAL RETARDATION, X-LINKED 60, FORMERLY; MRX60, FORMERLY Asterisk 300487 ACTIN-RELATED PROTEIN T1; ACTRT1 ARPT1 Percent 300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1 Number Sign 300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE;; DSMAX Asterisk 300490 SH2 DOMAIN PROTEIN 1A; SH2D1A SIGNALING LYMPHOCYTE ACTIVATION MOLECULE-ASSOCIATED PROTEIN;; SLAM-ASSOCIATED PROTEIN; SAP Number Sign 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS Asterisk 300492 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER A; FAM3A Asterisk 300493 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER A2; SPANXA2 Number Sign 300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1; ASPGX1 Number Sign 300495 AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2 MENTAL RETARDATION, X-LINKED, INCLUDED Number Sign 300496 AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3 Number Sign 300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2 Percent 300498 MENTAL RETARDATION, X-LINKED 45; MRX45 Asterisk 300499 FTSJ RNA 2-PRIME-O-METHYLTRANSFERASE 1; FTSJ1 FtsJ, E. COLI, HOMOLOG OF, 1;; SPB1, S. CEREVISIAE, HOMOLOG OF;; JM23 Number Sign 300500 ALBINISM, OCULAR, TYPE I; OA1 NETTLESHIP-FALLS TYPE OCULAR ALBINISM Caret 300501 MOVED TO 309549 Asterisk 300502 PYRUVATE DEHYDROGENASE, ALPHA-1; PDHA1 PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PHE1A;; PDHCE1A;; PDHA Caret 300503 MOVED TO 300419 Caret 300504 MOVED TO 300419 Percent 300505 MENTAL RETARDATION, X-LINKED 84; MRX84 Asterisk 300506 TSC22 DOMAIN FAMILY, MEMBER 3; TSC22D3 DELTA SLEEP-INDUCING PEPTIDE, IMMUNOREACTOR; DSIPI;; GLUCOCORTICOID-INDUCED LEUCINE ZIPPER; GILZ Asterisk 300507 H2B HISTONE FAMILY, MEMBER W, TESTIS-SPECIFIC; H2BFWT Asterisk 300508 UTP14, S. CEREVISIAE, HOMOLOG OF, A; UTP14A NY-CO-16 Percent 300509 DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9 Number Sign 300510 OVARIAN DYSGENESIS 2; ODG2 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, X-LINKED;; OVARIAN FAILURE, HYPERGONADOTROPIC, DUE TO OVARIAN DYSGENESIS PREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED Number Sign 300511 PREMATURE OVARIAN FAILURE 2A; POF2A Asterisk 300512 WD REPEAT-CONTAINING PROTEIN 13; WDR13 Asterisk 300513 G PROTEIN-COUPLED RECEPTOR 119; GPR119 G PROTEIN-COUPLED RECEPTOR 2; GPCR2 Number Sign 300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB FACB;; FANCONI PANCYTOPENIA, TYPE 2; FA2 Asterisk 300515 FANCB GENE; FANCB FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 95-KD; FAAP95;; FAAP90;; FLJ34064 Asterisk 300516 ATPase, CLASS VI, TYPE 11C; ATP11C ATPase IQ; ATPIQ;; ATPase IG; ATPIG Asterisk 300517 SPINDLIN FAMILY, MEMBER 2 SPIN2;; SPIN2, TELOMERIC COPY Percent 300518 MENTAL RETARDATION, X-LINKED 82; MRX82 Percent 300519 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; MRXSMP MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME Asterisk 300520 CLAUDIN 2; CLDN2 Asterisk 300521 KINESIN FAMILY MEMBER 4A; KIF4A KIF4 Asterisk 300522 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 2; IQSEC2 KIAA0522 Number Sign 300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS ALLAN-HERNDON SYNDROME;; MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY;; TRIIODOTHYRONINE RESISTANCE;; T3 RESISTANCE;; MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA;; MENTAL RETARDATION AND MUSCULAR ATROPHY Asterisk 300524 NEURITE EXTENSION AND MIGRATION FACTOR; NEXMIF KIAA2022 Asterisk 300525 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 8; P2RY8 P2Y8 P2RY8/CRLF2 FUSION GENE, INCLUDED Asterisk 300526 WD REPEAT-CONTAINING PROTEIN 45; WDR45 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 4; WIPI4 Asterisk 300527 NUDIX HYDROLASE 10; NUDT10 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 10;; NUDIX MOTIF 10;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE 3, ALPHA; DIPP3A;; DIPP3-ALPHA;; APS2 Asterisk 300528 NUDIX HYDROLASE 11; NUDT11 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 11;; NUDIX MOTIF 11;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE 3, BETA; DIPP3B;; DIPP3-BETA;; APS1 Asterisk 300529 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 10; P2RY10 P2Y10 Caret 300530 MOVED TO 611775 Asterisk 300531 SPROUTY, DROSOPHILA, HOMOLOG OF, 3; SPRY3 Asterisk 300532 VARIABLY CHARGED, X CHROMOSOME, 2; VCX2 VARIABLY CHARGED, X CHROMOSOME, WITH 2 REPEATS; VCX2R;; VARIABLY CHARGED, X CHROMOSOME, B; VCXB Asterisk 300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A VARIABLY CHARGED, X CHROMOSOME, WITH 8 REPEATS; VCX8R;; VARIABLY CHARGED, X CHROMOSOME, A; VCXA Number Sign 300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED; MRXSJ Asterisk 300535 OCRL GENE; OCRL OCRL1 Percent 300536 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4; BMND4 Caret 300537 MOVED TO 300049 Asterisk 300538 ARGININE VASOPRESSIN RECEPTOR 2; AVPR2 ANTIDIURETIC HORMONE RECEPTOR; ADHR;; VASOPRESSIN V2 RECEPTOR; V2R Number Sign 300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD Asterisk 300540 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 7; HAUS7 UCHL5-INTERACTING PROTEIN; UCHL5IP;; UCH37-INTERACTING PROTEIN 1; UIP1 Asterisk 300541 SARCOMA, SYNOVIAL, X BREAKPOINT 6; SSX6 Asterisk 300542 SARCOMA, SYNOVIAL, X BREAKPOINT 7; SSX7 Asterisk 300543 SARCOMA, SYNOVIAL, X BREAKPOINT 8; SSX8 Asterisk 300544 SARCOMA, SYNOVIAL, X BREAKPOINT 9; SSX9 Asterisk 300545 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 2; HS6ST2 Asterisk 300546 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1; FGD1 Asterisk 300547 MST3- AND SOK1-RELATED KINASE MASK;; MAMMALIAN STERILE 20-LIKE 4; MST4 Asterisk 300548 MELANOMA ANTIGEN, FAMILY H, 1; MAGEH1 MAGEH Asterisk 300549 MELANOMA ANTIGEN, FAMILY A, 2B; MAGEA2B Asterisk 300550 PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX PEX Caret 300551 MOVED TO 309530 Asterisk 300552 MIDLINE 1; MID1 MIDLINE 1 RING FINGER GENE;; MIDIN;; FINGER ON X AND Y, MOUSE, HOMOLOG OF; FXY Asterisk 300553 BROMODOMAIN- AND WD REPEAT-CONTAINING PROTEIN 3; BRWD3 Number Sign 300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE Number Sign 300555 DENT DISEASE 2 Asterisk 300556 ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2 M8-9, BOVINE, HOMOLOG OF;; ATP6M8-9;; RENIN RECEPTOR Percent 300557 PARKINSON DISEASE 12; PARK12 PARKINSON DISEASE, X-LINKED Number Sign 300558 MENTAL RETARDATION, X-LINKED 30; MRX30 MENTAL RETARDATION, X-LINKED 47; MRX47 Number Sign 300559 GLYCOGEN STORAGE DISEASE, TYPE IXd; GSD9D GSD IXd;; MUSCLE PHOSPHORYLASE KINASE DEFICIENCY;; MUSCLE GLYCOGENOSIS, X-LINKED Asterisk 300560 PHD FINGER PROTEIN 8; PHF8 ZINC FINGER PROTEIN 422; ZNF422;; KIAA1111 Asterisk 300561 SLIT- AND NTRK-LIKE FAMILY, MEMBER 2; SLITRK2 CHROMOSOME X OPEN READING FRAME 2; CXORF2;; CHROMOSOME X OPEN READING FRAME 1; CXORF1;; TRANSMEMBRANE PROTEIN 257; TMEM257;; KIAA1854 Asterisk 300562 SLIT- AND NTRK-LIKE FAMILY, MEMBER 4; SLITRK4 Caret 300563 MOVED TO 311070 Asterisk 300564 TSPY-LIKE 2; TSPYL2 CELL DIVISION AUTOANTIGEN 1; CDA1;; DIFFERENTIALLY EXPRESSED NUCLEOLAR TGFB1 TARGET; DENTT;; CASK-INTERACTING NUCLEOSOME ASSEMBLY PROTEIN; CINAP Caret 300565 MOVED TO 300561 Asterisk 300566 LHFP-LIKE PROTEIN 1; LHFPL1 Asterisk 300567 PHOSPHOGLYCERATE MUTASE FAMILY MEMBER 4; PGAM4 PHOSPHOGLYCERATE MUTASE FAMILY 3; PGAM3 Asterisk 300568 MICRO RNA 221; MIR221 miRNA221;; MIRN221 Asterisk 300569 MICRO RNA 222; MIR222 miRNA222;; MIRN222 Asterisk 300570 TRANSCRIPTION FACTOR YY2; YY2 ZNF631 Caret 300571 MOVED TO 615465 Asterisk 300572 ADHESION G PROTEIN-COUPLED RECEPTOR G2; ADGRG2 G PROTEIN-COUPLED RECEPTOR 64; GPR64;; G PROTEIN-COUPLED RECEPTOR, EPIDIDYMIS-SPECIFIC;; HUMAN EPIDIDYMIS-SPECIFIC PROTEIN 6; HE6 Asterisk 300573 ZINC FINGER PROTEIN 674; ZNF674 Asterisk 300574 CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3 G PROTEIN-COUPLED RECEPTOR 9; GPR9;; CD183 ANTIGEN; CD183 Asterisk 300575 RIPPLY1, ZEBRAFISH, HOMOLOG OF; RIPPLY1 LOC92129 Asterisk 300576 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 15; ZDHHC15 Number Sign 300577 MENTAL RETARDATION, X-LINKED 91; MRX91 Number Sign 300578 CHROMOSOME Xp11.3 DELETION SYNDROME MENTAL RETARDATION, X-LINKED, WITH RETINITIS PIGMENTOSA Asterisk 300579 SHROOM FAMILY MEMBER 4; SHROOM4 KIAA1202 Percent 300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED; CFTDX Percent 300581 FG SYNDROME 5; FGS5 Number Sign 300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS Asterisk 300583 VESTIGIAL-LIKE 1; VGLL1 VGL1;; TONDU; TDU Number Sign 300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA IMMUNODEFICIENCY, ISOLATED;; IMMUNODEFICIENCY, PURE Asterisk 300585 ZINC FINGER PROTEIN 673; ZNF673 FLJ20344 Asterisk 300586 ARYLSULFATASE H; ARSH Asterisk 300587 MALIGNANT T-CELL AMPLIFIED SEQUENCE 1; MCTS1 MCT1 Asterisk 300588 TENEURIN TRANSMEMBRANE PROTEIN 1; TENM1 ODZ, DROSOPHILA, HOMOLOG OF, 1; ODZ1;; TENASCIN M1; TNM1;; TENEURIN 1 Percent 300589 NYSTAGMUS 5, CONGENITAL, X-LINKED; NYS5 Number Sign 300590 CORNELIA DE LANGE SYNDROME 2; CDLS2 CORNELIA DE LANGE SYNDROME, X-LINKED;; CDLS, X-LINKED Percent 300591 STATURE QUANTITATIVE TRAIT LOCUS 6; STQTL6 Asterisk 300592 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A11; CT47A11 CT47.11;; LOC255313 Asterisk 300593 SPERM ACROSOME-ASSOCIATED PROTEIN 5; SPACA5 LOC389852 Asterisk 300594 G ANTIGEN 1; GAGE1 Asterisk 300595 G ANTIGEN 2C; GAGE2C GAGE2 Asterisk 300596 G ANTIGEN 3; GAGE3 Asterisk 300597 G ANTIGEN 4; GAGE4 Asterisk 300598 G ANTIGEN 5; GAGE5 Asterisk 300599 G ANTIGEN 6; GAGE6 Number Sign 300600 ALAND ISLAND EYE DISEASE; AIED FORSIUS-ERIKSSON TYPE OCULAR ALBINISM Asterisk 300601 G ANTIGEN 7; GAGE7 NULL 300602 CLARK-BARAITSER SYNDROME BARAITSER SYNDROME Asterisk 300603 POF1B GENE; POF1B FLJ22792;; ACTIN-BINDING PROTEIN, 34-KD Number Sign 300604 PREMATURE OVARIAN FAILURE 2B; POF2B Percent 300605 RETINITIS PIGMENTOSA 34; RP34 Caret 300606 MOVED TO 313500 Number Sign 300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8 HYPEREKPLEXIA AND EPILEPSY Asterisk 300608 DACHSHUND, DROSOPHILA, HOMOLOG OF, 2; DACH2 Asterisk 300609 MALE-SPECIFIC LETHAL 3, DROSOPHILA, HOMOLOG OF; MSL3 MALE-SPECIFIC LETHAL 3-LIKE 1; MSL3L1;; DROSOPHILA MSL3-LIKE 1 Asterisk 300610 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; HNRNPH2 HNRPH2;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H-PRIME Asterisk 300611 C1GALT1-SPECIFIC CHAPERONE 1; C1GALT1C1 CORE 1 BETA-3-GALACTOSYLTRANSFERASE-SPECIFIC MOLECULAR CHAPERONE;; COSMC;; C1GALT2 Caret 300612 MOVED TO 309590 Percent 300613 MYOPIA 13, X-LINKED; MYP13 Number Sign 300614 DEAFNESS, X-LINKED 5; DFNX5 AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY; AUNX1 Number Sign 300615 BRUNNER SYNDROME; BRNRS ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO, INCLUDED Asterisk 300616 LEUCINE ZIPPER PROTEIN 4; LUZP4 HOM-TES-85 Asterisk 300617 BRCA1/BRCA2-CONTAINING COMPLEX, SUBUNIT 3; BRCC3 C6.1A;; BRCC36 Asterisk 300618 PHD FINGER PROTEIN 16; PHF16 JADE3;; KIAA0215 Percent 300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION CASM SYNDROME Asterisk 300620 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 1; VSIG1 GLYCOPROTEIN A34; GPA34 Asterisk 300621 DXF34 GENE DXF34;; SPINDLIN FAMILY, MEMBER 2, CENTROMERIC COPY;; SPIN2, CENTROMERIC COPY Number Sign 300622 TN POLYAGGLUTINATION SYNDROME; TNPS GALACTOSYLTRANSFERASE DEFICIENCY Number Sign 300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS Number Sign 300624 FRAGILE X SYNDROME; FXS FRAGILE X MENTAL RETARDATION SYNDROME;; MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28;; X-LINKED MENTAL RETARDATION AND MACROORCHIDISM;; MARKER X SYNDROME;; MARTIN-BELL SYNDROME Asterisk 300625 KITA-KYUSHU LUNG CANCER ANTIGEN 1 KKLC1;; CHROMOSOME X OPEN READING FRAME 61; CXORF61 Asterisk 300626 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 11; ASB11 Asterisk 300627 ZINC FINGER PROTEIN 449; ZNF449 ZSCAN19 Asterisk 300628 FERM DOMAIN-CONTAINING PROTEIN 7; FRMD7 Asterisk 300629 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; AP1S2 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 1-LIKE;; CLATHRIN ADAPTOR COMPLEX AP1, SIGMA-1B SUBUNIT Caret 300630 MOVED TO 304340 Asterisk 300631 TRANSMEMBRANE PROTEIN 27; TMEM27 COLLECTRIN;; NX17 Asterisk 300632 PDZ DOMAIN-CONTAINING 11; PDZD11 ATPase-INTERACTING PDZ PROTEIN; AIPP1;; PLASMA MEMBRANE CALCIUM ATPase-INTERACTING SINGLE PDZ PROTEIN; PISP;; PMCA-INTERACTING SINGLE PDZ PROTEIN Number Sign 300633 HYPOSPADIAS 1, X-LINKED; HYSP1 Asterisk 300634 PDZ DOMAIN-CONTAINING 4; PDZD4 PDZK4;; PDZRN4L;; KIAA1444;; LU1 Number Sign 300635 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 XIAP DEFICIENCY Number Sign 300636 IMMUNODEFICIENCY 33; IMD33 IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED;; ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1 Asterisk 300637 G ANTIGEN 12I; GAGE12I GAGE7B Asterisk 300638 G ANTIGEN 8; GAGE8 Caret 300639 MOVED TO 300354 Number Sign 300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2 Asterisk 300641 SOLUTE CARRIER FAMILY 25, MEMBER 43; SLC25A43 Asterisk 300642 SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED, 2; SRPX2 SUSHI REPEAT PROTEIN UPREGULATED IN LEUKEMIA; SRPUL Number Sign 300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX Asterisk 300644 GALACTOSIDASE, ALPHA; GLA ALPHA-GALACTOSIDASE A; GALA Number Sign 300645 IMMUNODEFICIENCY 34; IMD34 IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED;; ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2; AMCBX2 Asterisk 300646 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 9; ZDHHC9 DHHC DOMAIN-CONTAINING PROTEIN 9; DHHC9 Asterisk 300647 APC MEMBRANE RECRUITMENT PROTEIN 1; AMER1 WTX;; FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER B; FAM123B Asterisk 300648 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A1; CT45A1 CANCER/TESTIS ANTIGEN 45, MEMBER 1; CT45.1 Asterisk 300649 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 5; SLC38A5 TRANSPORT SYSTEM N, PROTEIN 2; SN2 NULL 300650 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD OCULAR ALBINISM WITH SENSORINEURAL DEAFNESS;; DEAFNESS AND OCULAR ALBINISM Asterisk 300651 PORCUPINE, DROSOPHILA, HOMOLOG OF; PORCN PORC Percent 300652 ANGIOMA SERPIGINOSUM, X-LINKED Number Sign 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY PGK1 DEFICIENCY Asterisk 300654 FATTY ACID AMIDE HYDROLASE 2; FAAH2 Asterisk 300655 KELCH-LIKE 13; KLHL13 KIAA1309 Asterisk 300656 URACIL PHOSPHORIBOSYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF; UPRT Asterisk 300657 CANCER/TESTIS ANTIGEN 1A; CTAG1A LAGE2A;; LAGE2, CENTROMERIC COPY Asterisk 300658 NDP GENE; NDP NORRIN Number Sign 300659 MENTAL RETARDATION, X-LINKED 93; MRX93 MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY Percent 300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD Number Sign 300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PRPS1 SUPERACTIVITY GOUT, PRPS-RELATED, INCLUDED Asterisk 300662 SMALL NUCLEOLAR RNA, H/ACA BOX, 11; SNORA11 snoRNA, U107 Asterisk 300663 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, A; ATG4A APG4, S. CEREVISIAE, HOMOLOG OF, A; APG4A;; AUTOPHAGIN 2;; AUTL2 Asterisk 300664 SPANX FAMILY, MEMBER N1; SPANXN1 Asterisk 300665 SPANX FAMILY, MEMBER N2; SPANXN2 Asterisk 300666 SPANX FAMILY, MEMBER N3; SPANXN3 Asterisk 300667 SPANX FAMILY, MEMBER N4; SPANXN4 Asterisk 300668 SPANX FAMILY, MEMBER N5; SPANXN5 Asterisk 300669 SPANX FAMILY, MEMBER B1; SPANXB1 SPERM PROTEIN ASSOCIATED WITH THE NUCLEUS, X CHROMOSOME, FAMILY MEMBER B1;; SPANXB Asterisk 300670 SPANX FAMILY, MEMBER D; SPANXD Asterisk 300671 SPANX FAMILY, MEMBER E; SPANXE Number Sign 300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 INFANTILE SPASM SYNDROME, X-LINKED 2; ISSX2 Number Sign 300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS Asterisk 300674 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 1; MOSPD1 Asterisk 300675 PARANEOPLASTIC MA ANTIGEN 3; PNMA3 PARANEOPLASTIC ANTIGEN MA3; MA3 Number Sign 300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 Asterisk 300677 CHROMOSOME X OPEN READING FRAME 15; CXORF15 TAXILIN, GAMMA;; FACTOR INHIBITING ATF4-MEDIATED TRANSCRIPTION; FIAT Asterisk 300678 DUAL-SPECIFICITY PHOSPHATASE 21; DUSP21 LMWDSP21 Number Sign 300679 CHROMOSOME Xp21 DELETION SYNDROME COMPLEX GLYCEROL KINASE DEFICIENCY Asterisk 300680 PREGNANCY-UPREGULATED, NONUBIQUITOUS, CAM KINASE; PNCK CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-BETA; CAMK1B;; BSTK3, MOUSE, HOMOLOG OF Asterisk 300681 DEDICATOR OF CYTOKINESIS 11; DOCK11 ACTIVATED CDC42-ASSOCIATED GUANINE NUCLEOTIDE EXCHANGE FACTOR; ACG;; ZIZIMIN 2; ZIZ2 Asterisk 300682 MICRO RNA 424; MIR424 miRNA424;; MIRN424 MICRO RNA 322, INCLUDED; MIR322, INCLUDED;; miRNA322, INCLUDED;; MIRN322, INCLUDED Asterisk 300683 SEPTIN 6; SEPT6 SEP2, DROSOPHILA, HOMOLOG OF; SEP2;; KIAA0128 SEPT6/MLL FUSION GENE, INCLUDED Asterisk 300684 X KELL BLOOD GROUP PRECURSOR-RELATED, X-LINKED; XKRX MEMBRANE PROTEIN XPLAC; XPLAC;; XKR2;; XRG2 Asterisk 300685 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; PRRG3 PROLINE-RICH GLA PROTEIN 3; PRGP3;; TRANSMEMBRANE GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 3; TMG3 Asterisk 300686 MICRO RNA 448; MIR448 miRNA448;; MIRN448 Asterisk 300687 ERCC6-LIKE; ERCC6L PIK1-INTERACTING CHECKPOINT HELICASE; PICH Asterisk 300688 BCL6 COREPRESSOR-LIKE 1; BCORL1 Asterisk 300689 START DOMAIN-CONTAINING PROTEIN 8; STARD8 DELETED IN LIVER CANCER 3; DLC3;; STARTGAP3;; KIAA0189 Asterisk 300690 BRAIN-EXPRESSED X-LINKED GENE 1; BEX1 Asterisk 300691 BRAIN-EXPRESSED X-LINKED GENE 2; BEX2 Asterisk 300692 BEX FAMILY MEMBER 4; BEX4 BRAIN-EXPRESSED X-LINKED GENE 4;; BRAIN-EXPRESSED X-LINKED GENE-LIKE 1; BEXL1 Asterisk 300693 BEX FAMILY MEMBER 5; BEX5 BRAIN-EXPRESSED X-LINKED GENE 5;; NGFRAP1-LIKE 1; NGFRAP1L1 Asterisk 300694 MICRO RNA 223; MIR223 miRNA223;; MIRN223 Number Sign 300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM SCAPULOPERONEAL MYOPATHY, FHL1-RELATED Number Sign 300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED; EDMD6, INCLUDED Asterisk 300697 HECT, UBA, AND WWE DOMAINS-CONTAINING PROTEIN 1; HUWE1 UPSTREAM REGULATORY ELEMENT-BINDING PROTEIN 1; UREB1;; URE-BINDING PROTEIN 1;; LASU1;; KIAA0312 Asterisk 300698 TRANSMEMBRANE PROTEIN 47; TMEM47 BRAIN CELL MEMBRANE PROTEIN 1; BCMP1 Number Sign 300699 MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW MENTAL RETARDATION, X-LINKED 94; MRX94;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 29; MRXS29 Percent 300700 ALBINISM-DEAFNESS SYNDROME; ADFN ALDS Asterisk 300701 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 12; ZCCHC12 SMAD-INTERACTING ZINC FINGER PROTEIN 1; SIZN1 Asterisk 300702 MELANOMA ANTIGEN, FAMILY D, 4; MAGED4 MAGEE1;; KIAA1859 Percent 300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5 Percent 300704 PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2 Number Sign 300705 CHROMOSOME Xp11.22 DUPLICATION SYNDROME MENTAL RETARDATION, X-LINKED 17; MRX17;; MENTAL RETARDATION, X-LINKED 31; MRX31 Caret 300706 MOVED TO 309590 Number Sign 300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR STAR SYNDROME;; SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS Asterisk 300708 FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A; FAM58A Percent 300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9 Percent 300710 ALOPECIA, ANDROGENETIC, 2; AGA2 Percent 300711 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4 Percent 300712 CRANIOFACIOSKELETAL SYNDROME Asterisk 300713 OTU DOMAIN-CONTAINING PROTEIN 5; OTUD5 DUBA Asterisk 300714 OTU DOMAIN-CONTAINING PROTEIN 6A; OTUD6A DUBA2;; HIN6 PROTEASE Asterisk 300715 MAGNESIUM TRANSPORTER 1; MAGT1 IAP Percent 300716 MENTAL RETARDATION, X-LINKED 95; MRX95 Number Sign 300717 REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A Number Sign 300718 REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET; RBMX1B Percent 300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES Asterisk 300720 G ANTIGEN 2A; GAGE2A Asterisk 300721 MICRO RNA LET7F2; MIRLET7F2 LET7, C. ELEGANS, HOMOLOG OF, F2; LET7F2;; miRNA LET7F2;; MIRNLET7F2 Asterisk 300722 MICRO RNA 19B2; MIR19B2 miRNA19B2;; MIRN19B2 Asterisk 300723 SYNAPTOTAGMIN-LIKE 4; SYTL4 GRANUPHILIN Asterisk 300724 CONNECTOR ENHANCER OF KINASE SUPPRESSOR OF RAS 2; CNKSR2 CONNECTOR ENHANCER OF KSR 2;; CNK, DROSOPHILA, HOMOLOG OF, 2; CNK2;; KIAA0902 Asterisk 300725 RAS-RELATED GTP-BINDING PROTEIN B; RRAGB RAGB Asterisk 300726 G ANTIGEN 2B; GAGE2B Asterisk 300727 G ANTIGEN 12C; GAGE12C Asterisk 300728 G ANTIGEN 12D; GAGE12D Asterisk 300729 G ANTIGEN 12E; GAGE12E Asterisk 300730 G ANTIGEN 12F; GAGE12F Asterisk 300731 G ANTIGEN 12G; GAGE12G Asterisk 300732 G ANTIGEN 12H; GAGE12H Asterisk 300733 G ANTIGEN 12J; GAGE12J Asterisk 300734 G ANTIGEN 13; GAGE13 Asterisk 300735 G ANTIGEN 2D; GAGE2D Asterisk 300736 G ANTIGEN 2E; GAGE2E Asterisk 300737 G ANTIGEN 10; GAGE10 Asterisk 300738 P ANTIGEN FAMILY, MEMBER 2; PAGE2 PROSTATE-ASSOCIATED GENE 2;; GAGEC2 Asterisk 300739 P ANTIGEN FAMILY, MEMBER 3; PAGE3 PROSTATE-ASSOCIATED GENE 3;; GAGED1 Asterisk 300740 X ANTIGEN FAMILY, MEMBER 3; XAGE3 PLACENTA-SPECIFIC 6; PLAC6 Asterisk 300741 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER C; FAM120C CHROMOSOME X OPEN READING FRAME 17; CXORF17 Asterisk 300742 X ANTIGEN FAMILY, MEMBER 1A; XAGE1A Asterisk 300743 X ANTIGEN FAMILY, MEMBER 1B; XAGE1B Asterisk 300744 X ANTIGEN FAMILY, MEMBER 1C; XAGE1C Asterisk 300745 X ANTIGEN FAMILY, MEMBER 1E; XAGE1E Asterisk 300746 COAGULATION FACTOR IX; F9 FACTOR IX;; PLASMA THROMBOPLASTIN COMPONENT; PTC Asterisk 300747 STEROID SULFATASE; STS ARYLSULFATASE C; ARSC;; ESTRONE SULFATASE STEROID SULFATASE, ISOZYME S, INCLUDED Asterisk 300748 G PROTEIN-COUPLED RECEPTOR 82; GPR82 Number Sign 300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH MICPCH SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE; MRXSNA Percent 300750 SPASTIC PARAPLEGIA 34, X-LINKED; SPG34 Number Sign 300751 ANEMIA, SIDEROBLASTIC, 1; SIDBA1 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA;; ANEMIA, HYPOCHROMIC; ANH1;; ANEMIA, HEREDITARY SIDEROBLASTIC;; HEREDITARY IRON-LOADING ANEMIA Number Sign 300752 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT; XLDPP;; ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED Asterisk 300753 APOLIPOPROTEIN O; APOO MY025;; FAMILY WITH SEQUENCE SIMILARITY 121B; FAM121B;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 26-KD SUBUNIT; MIC26;; MICOS COMPLEX, 26-KD SUBUNIT Asterisk 300754 TAF9B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 31-KD; TAF9B TAF9L;; TAFII31L Number Sign 300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA BRUTON-TYPE AGAMMAGLOBULINEMIA;; AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AGMX1;; IMMUNODEFICIENCY 1; IMD1 HYPOGAMMAGLOBULINEMIA, X-LINKED, INCLUDED Percent 300756 ALZHEIMER DISEASE 16; AD16 Asterisk 300757 RP2 GENE; RP2 Number Sign 300758 HYPOSPADIAS 2, X-LINKED; HYSP2 Asterisk 300759 MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1 DYSTROBREVIN-ASSOCIATED MAGE PROTEIN; DAMAGE;; KIAA1587 Asterisk 300760 MELANOMA ANTIGEN, FAMILY E, 2; MAGEE2 Asterisk 300761 MELANOMA ANTIGEN, FAMILY B, 10; MAGEB10 Asterisk 300762 MELANOMA ANTIGEN, FAMILY B, 16; MAGEB16 Asterisk 300763 MELANOMA ANTIGEN, FAMILY B, 17; MAGEB17 Asterisk 300764 MELANOMA ANTIGEN, FAMILY A, 9B; MAGEA9B Asterisk 300765 MELANOMA ANTIGEN, FAMILY D, 4B; MAGED4B Asterisk 300766 NFKB-ACTIVATING PROTEIN; NKAP Asterisk 300767 REPLICATION PROTEIN A4; RPA4 RPA2, HOMOLOG OF;; REPLICATION PROTEIN A COMPLEX, 34-KD SUBUNIT, HOMOLOG OF Asterisk 300768 CYLICIN 1; CYLC1 Asterisk 300769 MICRO RNA 224; MIR224 MIRN224;; miRNA224 Number Sign 300770 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 4;; PAP DUE TO CSF2RA DEFICIENCY;; CSF2RA DEFICIENCY Asterisk 300771 TRANSCRIPTION ELONGATION FACTOR A-LIKE 7; TCEAL7 Asterisk 300772 TRANSCRIPTION FACTOR DP FAMILY, MEMBER 3; TFDP3 HEPATOCELLULAR CARCINOMA ANTIGEN 661; HCA661;; CANCER/TESTIS ANTIGEN 30; CT30;; E2F-LIKE;; DP4 Asterisk 300773 APEX NUCLEASE (APURINIC/APYRIMIDINIC ENDONUCLEASE) 2; APEX2 APE2;; XTH2;; APURINIC/APYRIMIDINIC ENDONUCLEASE LIKE-2; APEXL2;; APEX NUCLEASE-LIKE 2 Asterisk 300774 RAS-ASSOCIATED PROTEIN RAB39B; RAB39B Asterisk 300775 E74-LIKE FACTOR 4; ELF4 MYELOID ELF1-LIKE FACTOR; MEF Asterisk 300776 ALG13, S. CEREVISIAE, HOMOLOG OF; ALG13 ASPARAGINE-LINKED GLYCOSYLATION 13, S. CEREVISIAE, HOMOLOG OF;; GLYCOSYLTRANSFERASE 28 DOMAIN-CONTAINING 1; GLT28D1 Asterisk 300777 EPSILON-TRIMETHYLLYSINE HYDROXYLASE; TMLHE TMLH;; BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 2; BBOX2 Percent 300778 CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD LISCH EPITHELIAL CORNEAL DYSTROPHY;; BAND-SHAPED AND WHORLED MICROCYSTIC CORNEAL EPITHELIAL DYSTROPHY Percent 300779 CORNEAL DYSTROPHY, ENDOTHELIAL, X-LINKED; XECD ENDOTHELIAL CORNEAL DYSTROPHY, X-LINKED Asterisk 300780 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A1; CT47A1 CT47.1 Asterisk 300781 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A2; CT47A2 CT47.2 Asterisk 300782 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A3; CT47A3 CT47.3 Asterisk 300783 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A4; CT47A4 CT47.4 Asterisk 300784 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A5; CT47A5 CT47.5 Asterisk 300785 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A6; CT47A6 CT47.6 Asterisk 300786 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A7; CT47A7 CT47.7 Asterisk 300787 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A8; CT47A8 CT47.8 Asterisk 300788 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A9; CT47A9 CT47.9 Asterisk 300789 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER A10; CT47A10 CT47.10 Asterisk 300790 CANCER/TESTIS ANTIGEN FAMILY 47, MEMBER B1; CT47B1 CT47A13;; CT47.13 Asterisk 300791 NIK-RELATED KINASE; NRK NIK-LIKE EMBRYO-SPECIFIC KINASE; NESK Asterisk 300792 MICRO RNA 106A; MIR106A miRNA106A;; MIRN106A Asterisk 300793 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A2; CT45A2 CANCER/TESTIS ANTIGEN 45, MEMBER 2; CT45.2 Asterisk 300794 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A3; CT45A3 CANCER/TESTIS ANTIGEN 45, MEMBER 3; CT45.3 Asterisk 300795 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A4; CT45A4 CANCER/TESTIS ANTIGEN 45, MEMBER 4; CT45.4 Asterisk 300796 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A5; CT45A5 CANCER/TESTIS ANTIGEN 45, MEMBER 5; CT45.5 Asterisk 300797 CANCER/TESTIS ANTIGEN FAMILY 45, MEMBER A6; CT45A6 CANCER/TESTIS ANTIGEN 45, MEMBER 6; CT45.6 Asterisk 300798 PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2 Number Sign 300799 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR Caret 300800 MOVED TO 103580 Number Sign 300801 CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Number Sign 300802 MENTAL RETARDATION, X-LINKED 96; MRX96 Number Sign 300803 MENTAL RETARDATION, X-LINKED 97; MRX97 MENTAL RETARDATION, X-LINKED 65; MRX65;; MRXZ Number Sign 300804 JOUBERT SYNDROME 10; JBTS10 Asterisk 300805 FMR1 ANTISENSE RNA 1; FMR1AS1 ANTISENSE FMR1 GENE; ASFMR1;; FMR1 GENE, ANTISENSE Asterisk 300806 AF4/FMR2 FAMILY, MEMBER 2; AFF2 FMR2 GENE; FMR2 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28) E, INCLUDED; FRAXE, INCLUDED Number Sign 300807 THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8 DEEP VENOUS THROMBOSIS, PROTECTION AGAINST, INCLUDED Asterisk 300808 G PROTEIN-COUPLED RECEPTOR 143; GPR143 OA1 GENE Percent 300809 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 15; SLEB15 Asterisk 300810 MICRO RNA 98; MIR98 miRNA98;; MIRN98 Asterisk 300811 MICRO RNA 105-1; MIR105-1 miRNA105-1;; MIRN105-1 Asterisk 300812 MICRO RNA 105-2; MIR105-2 miRNA105-2;; MIRN105-2 NULL 300813 SARCOMA, SYNOVIAL Number Sign 300814 NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6 Number Sign 300815 CHROMOSOME Xq28 DUPLICATION SYNDROME Number Sign 300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6 ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED Asterisk 300817 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 2; EFHC2 EF-HAND DOMAIN-CONTAINING PROTEIN 2 Number Sign 300818 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1; PNH1 Asterisk 300819 ZINC FINGER PROTEIN 630; ZNF630 Asterisk 300820 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 15; MAP3K15 APOPTOSIS SIGNAL-REGULATING KINASE 3; ASK3 Asterisk 300821 OPSIN 1, MEDIUM-WAVE-SENSITIVE; OPN1MW GREEN CONE PIGMENT; GCP Asterisk 300822 OPSIN 1, LONG-WAVE-SENSITIVE; OPN1LW RED CONE PIGMENT; RCP Asterisk 300823 IDURONATE 2-SULFATASE; IDS Asterisk 300824 OPN1LW AND OPN1MW GENES, CONTROLLER OF OPSIN LOCUS CONTROL REGION;; LOCUS CONTROL REGION, RED AND GREEN PHOTOPIGMENT GENES;; RED AND GREEN PIGMENT GENES, CONTROLLER OF Asterisk 300825 RETINOBLASTOMA-BINDING PROTEIN 7; RBBP7 Asterisk 300826 STROMAL ANTIGEN 2; STAG2 COHESIN SUBUNIT SA2 Asterisk 300827 FIBROBLAST GROWTH FACTOR 16; FGF16 Asterisk 300828 PATCHED DOMAIN-CONTAINING PROTEIN 1; PTCHD1 Percent 300829 CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION Number Sign 300830 AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 CHROMOSOME Xp22 DELETION SYNDROME Number Sign 300831 CK SYNDROME MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION Asterisk 300832 JUST PROXIMAL TO XIST; JPX NONCODING RNA 183; NCRNA00183;; ENOX Number Sign 300833 46,XX SEX REVERSAL 3; SRXX3 CHROMOSOME Xq26 DUPLICATION SYNDROME;; 46,XX SEX REVERSAL, SOX3-RELATED CHROMOSOME Xq26 DELETION SYNDROME, INCLUDED Number Sign 300834 MACULAR DEGENERATION, X-LINKED ATROPHIC Number Sign 300835 ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES; XLANP Asterisk 300836 KAL1 GENE; KAL1 KALLMANN SYNDROME INTERVAL GENE 1; KALIG1;; ADHESION MOLECULE-LIKE, X-LINKED; ADMLX;; ANOSMIN 1 Asterisk 300837 DIACYLGLYCEROL KINASE, KAPPA, 142-KD; DGKK Asterisk 300838 FERM AND PDZ DOMAINS-CONTAINING PROTEIN 4; FRMPD4 PSD95-INTERACTING REGULATOR OF SPINE MORPHOGENESIS; PRESO;; KIAA0316 Asterisk 300839 RETINOSCHISIN; RS1 Asterisk 300840 PRA1 DOMAIN FAMILY, MEMBER 2; PRAF2 JM4 Asterisk 300841 COAGULATION FACTOR VIII; F8 FACTOR VIII;; COAGULATION FACTOR VIIIC, PROCOAGULANT COMPONENT; F8C Number Sign 300842 MCLEOD SYNDROME; MCLDS MCLEOD PHENOTYPE;; NEUROACANTHOCYTOSIS, MCLEOD TYPE MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE, INCLUDED Percent 300843 BORNHOLM EYE DISEASE; BED MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION Number Sign 300844 MENTAL RETARDATION, X-LINKED 19; MRX19 Number Sign 300845 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM; MYMY4 CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB;; SYNDROMIC MOYAMOYA DISEASE Asterisk 300846 CD99 ANTIGEN-LIKE 2; CD99L2 CD99B Number Sign 300847 AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5 Percent 300848 MENTAL RETARDATION, X-LINKED 89; MRX89 Number Sign 300849 MENTAL RETARDATION, X-LINKED 41; MRX41 MENTAL RETARDATION, X-LINKED 48; MRX48 Number Sign 300850 MENTAL RETARDATION, X-LINKED 90; MRX90 Percent 300851 MENTAL RETARDATION, X-LINKED 92; MRX92 Percent 300852 MENTAL RETARDATION, X-LINKED 88; MRX88 Number Sign 300853 IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN Number Sign 300854 RENAL CELL CARCINOMA, Xp11-ASSOCIATED; RCCX1 Number Sign 300855 OGDEN SYNDROME; OGDNS N-TERMINAL ACETYLTRANSFERASE DEFICIENCY; NATD Percent 300856 HYPOSPADIAS 4, X-LINKED, SUSCEPTIBILITY TO; HYSP4 Number Sign 300857 AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS15 Percent 300858 MENTAL RETARDATION, X-LINKED, SYNDROMIC 17; MRXS17 MENTAL RETARDATION, X-LINKED, WITH ALACRIMA AND ACHALASIA Asterisk 300859 COILED-COIL DOMAIN-CONTAINING PROTEIN 22; CCDC22 Number Sign 300860 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN MENTAL RETARDATION, X-LINKED, SYNDROMIC 30; MRXS30 Percent 300861 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE; MRXSCS MENTAL RETARDATION, X-LINKED, WITH SEIZURES, HYPOGAMMAGLOBULINEMIA, AND GAIT DISTURBANCE Asterisk 300862 ACYL-CoA THIOESTERASE 9; ACOT9 MITOCHONDRIAL ACYL-CoA THIOESTERASE, 48-KD; MTACT48 Number Sign 300863 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA NULL 300864 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED Asterisk 300865 MICRO RNA 503; MIR503 miRNA503 Asterisk 300866 MICRO RNA 510; MIR510 miRNA510 Number Sign 300867 KABUKI SYNDROME 2; KABUK2 Number Sign 300868 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20; EIEE20;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4; GPIBD4 Number Sign 300869 CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME Percent 300870 ANEURYSM, INTRACRANIAL BERRY, 5; ANIB5 Asterisk 300871 FUN14 DOMAIN-CONTAINING PROTEIN 1; FUNDC1 Number Sign 300872 AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6 EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED Asterisk 300873 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3-LIKE PROTEIN; GNL3L GNL3-LIKE PROTEIN Asterisk 300874 MICRO RNA 508; MIR508 miRNA508;; MIRN508 Asterisk 300875 MICRO RNA 509-1; MIR509-1 miRNA509-1;; MIRN509-1;; MICRO RNA 509; MIR509 Asterisk 300876 MICRO RNA 509-3; MIR509-3 miRNA509-3;; MIRN509-3 Asterisk 300877 MICRO RNA 506; MIR506 miRNA506;; MIRN506 Asterisk 300878 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR C1; DMRTC1 Asterisk 300879 XG GLYCOPROTEIN; XG PBDX Asterisk 300880 PROTEASOME 26S SUBUNIT, NON-ATPase, 10; PSMD10 p28;; GANKYRIN;; p28(GANK) Caret 300881 MOVED TO 615777 Number Sign 300882 CORNELIA DE LANGE SYNDROME 5; CDLS5 Asterisk 300883 SORTING NEXIN 12; SNX12 Number Sign 300884 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is, INCLUDED; CDG1S, INCLUDED;; CDG Is, INCLUDED; CDGIs, INCLUDED Asterisk 300885 CYTOCHROME c OXIDASE, SUBUNIT 7B; COX7B CYTOCHROME c OXIDASE, SUBUNIT VIIb Number Sign 300886 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 Number Sign 300887 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES; APLCC Number Sign 300888 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT; CHTE Asterisk 300889 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12B; ZC3H12B MCP1-INDUCED PROTEIN 2; MCPIP2 Asterisk 300890 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 9; ASB9 Asterisk 300891 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 12; ASB12 Asterisk 300892 LONG INTERGENIC NONCODING RNA 850; LINC00850 KUCG1 Asterisk 300893 MICRO RNA 502; MIR502 miRNA502 Number Sign 300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN;; STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD; SENDA Number Sign 300895 OHDO SYNDROME, X-LINKED; OHDOX BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE Number Sign 300896 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M CDG IIm; CDGIIm;; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 22; EIEE22 Asterisk 300897 ZINC FINGER C4H2 DOMAIN-CONTAINING PROTEIN; ZC4H2 KIAA1166 Asterisk 300898 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1, ANTISENSE; CDR1AS CDR1 ANTISENSE TRANSCRIPT;; CIRCULAR RNA SPONGE FOR MIR7; CIRS7 Asterisk 300899 RIBOSOMAL PROTEIN L39; RPL39 Caret 300900 REMOVED FROM DATABASE Asterisk 300901 X-ACTIVE-SPECIFIC NONCODING TRANSCRIPT; XACT ACTIVE X CHROMOSOME-COATING TRANSCRIPT, NONCODING;; X-ACTIVE-COATING TRANSCRIPT;; LONG INTERGENIC NONCODING RNA XACT;; lincRNA XACT Asterisk 300902 RIBOSOMAL PROTEIN L36A; RPL36A RPL44, YEAST, HOMOLOG OF; RPL44 Asterisk 300903 G PROTEIN-COUPLED RECEPTOR 174; GPR174 GPCR17 Asterisk 300904 INSULIN RECEPTOR SUBSTRATE 4; IRS4 Number Sign 300905 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 Asterisk 300906 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 3; PDK3 Asterisk 300907 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD; CSTF2 CSTF64 Number Sign 300908 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY FAVISM, SUSCEPTIBILITY TO Number Sign 300909 ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO; AEACEI Number Sign 300910 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18; BMND18 OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO Number Sign 300911 PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS Number Sign 300912 MENTAL RETARDATION, X-LINKED 98; MRX98 Asterisk 300913 VMA21, S. CEREVISIAE, HOMOLOG OF; VMA21 Number Sign 300914 DEAFNESS, X-LINKED 6; DFNX6 Number Sign 300915 MICROPHTHALMIA, SYNDROMIC 13; MCOPS13 MAINE MICROPHTHALMOS;; COLOBOMATOUS MICROPHTHALMIA WITH MICROCEPHALY, SHORT STATURE, AND PSYCHOMOTOR RETARDATION Asterisk 300916 PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 5; PNMA5 PARANEOPLASTIC ANTIGEN-LIKE PROTEIN 5;; KIAA1934 Asterisk 300917 PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 6A; PNMA6A PARANEOPLASTIC ANTIGEN-LIKE PROTEIN 6A;; PNMA6 Number Sign 300918 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED OLMSTED SYNDROME, X-LINKED; OLMSX Number Sign 300919 MENTAL RETARDATION, X-LINKED 99; MRX99 Asterisk 300920 ATAXIN 3-LIKE; ATXN3L Asterisk 300921 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 9; BHLHB9 p60 TRANSCRIPTION REGULATOR PROTEIN; p60TRP;; KIAA1701 Asterisk 300922 CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN 1; CHIC1 BRAIN X-LINKED GENE; BRX Number Sign 300923 MENTAL RETARDATION, X-LINKED 100; MRX100 Asterisk 300924 ACYL-CoA WAX ALCOHOL ACYLTRANSFERASE 1; AWAT1 DIACYL-GLYCEROL ACYLTRANSFERASE 2; DGA2 Asterisk 300925 ACYL-CoA WAX ALCOHOL ACYLTRANSFERASE 2; AWAT2 WAX SYNTHASE;; DIACYLGLYCEROL O-ACYLTRANSFERASE CANDIDATE 4; DC4;; MFAT Asterisk 300926 DIACYLGLYCEROL O-ACYLTRANSFERASE 2-LIKE 6; DGAT2L6 DIACYLGLYCEROL O-ACYLTRANSFERASE CANDIDATE 3; DC3 Asterisk 300927 PEROXIREDOXIN 4; PRDX4 ANTIOXIDANT ENZYME 372; AOE372 Number Sign 300928 MENTAL RETARDATION, X-LINKED 101; MRX101 Asterisk 300929 MICRO RNA 718; MIR718 miRNA718 Asterisk 300930 MAP7 DOMAIN-CONTAINING PROTEIN 3; MAP7D3 MDP3 Asterisk 300931 PIRIN; PIR Number Sign 300932 THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS; TBGQTL Asterisk 300933 PIH1 DOMAIN-CONTAINING PROTEIN 3; PIH1D3 Number Sign 300934 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y CDG IY; CDGIy Asterisk 300935 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 1; PRRG1 PROLINE-RICH GLA PROTEIN 1; PRGP1 Asterisk 300936 FTX TRANSCRIPT, XIST REGULATOR, NONCODING; FTX GENE 5-PRIME TO XIST;; LONG INTERGENIC NONCODING RNA 182; LINC00182;; lincRNA 182 Asterisk 300937 RHO GTPase-ACTIVATING PROTEIN 36; ARHGAP36 Asterisk 300938 MATRIX REMODELING-ASSOCIATED PROTEIN 5; MXRA5 ADLICAN Asterisk 300939 THYMOSIN, BETA-15A; TMSB15A Asterisk 300940 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 2; GDPD2 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 3; GDE3 Asterisk 300941 SOLUTE CARRIER FAMILY 25, MEMBER 53; SLC25A53 MITOCHONDRIAL CARRIER TRIPLE REPEAT 6; MCART6 Number Sign 300942 CHROMOSOME Xq26.3 DUPLICATION SYNDROME CHROMOSOME Xq26 MICRODUPLICATION SYNDROME;; X-LINKED ACROGIGANTISM; XLAG Number Sign 300943 PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2 ACROMEGALY DUE TO PITUITARY ADENOMA 2;; ACROMEGALY, X-LINKED Asterisk 300944 CSAG FAMILY, MEMBER 1; CSAG1 CHONDROSARCOMA-ASSOCIATED GENE; CSAGE Asterisk 300945 TSR2, 20S rRNA ACCUMULATION, S. CEREVISIAE, HOMOLOG OF; TSR2 WGG MOTIF-CONTAINING PROTEIN 1; WGG1 Number Sign 300946 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14 Asterisk 300947 COILED-COIL DOMAIN-CONTAINING PROTEIN 120; CCDC120 Asterisk 300948 PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, BETA ISOFORM; PCYT1B CCT-BETA Asterisk 300949 FORKHEAD BOX R2; FOXR2 FORKHEAD BOX N6; FOXN6 Asterisk 300950 MICRO RNA 20B; MIR20B miRNA20B Asterisk 300951 RING FINGER PROTEIN 113A; RNF113A ZINC FINGER PROTEIN 183; ZNF183 Number Sign 300952 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES Number Sign 300953 TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5 Asterisk 300954 CHROMOSOME X OPEN READING FRAME 40A; CXORF40A ENDOTHELIAL-OVEREXPRESSED LIPOPOLYSACCHARIDE-ASSOCIATED FACTOR 1; EOLA1 Asterisk 300955 APOLIPOPROTEIN O-LIKE; APOOL FAMILY WITH SEQUENCE SIMILARITY 121A; FAM121A;; CHROMOSOME X OPEN READING FRAME 33; CXORF33;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 27-KD SUBUNIT; MIC27;; MICOS COMPLEX, 27-KD SUBUNIT Asterisk 300956 BRAF PSEUDOGENE 1; BRAFP1 LONG NONCODING RNA BRAFP1;; lncRNA BRAFP1 Number Sign 300957 MENTAL RETARDATION, X-LINKED 12; MRX12 MENTAL RETARDATION, X-LINKED 35; MRX35 Number Sign 300958 MENTAL RETARDATION, X-LINKED 102; MRX102 Asterisk 300959 CHROMOSOME X OPEN READING FRAME 36; CXORF36 DIA1-RELATED PROTEIN; DIA1R Number Sign 300960 MEND SYNDROME; MEND MALE EBP DISORDER WITH NEUROLOGIC DEFECTS Asterisk 300961 MID1-INTERACTING PROTEIN 1; MID1IP1 MIG12 Asterisk 300962 GEM-ASSOCIATED PROTEIN 8; GEMIN8 FAMILY WITH SEQUENCE SIMILARITY 51, MEMBER A1; FAM51A1 Number Sign 300963 RITSCHER-SCHINZEL SYNDROME 2; RTSC2 Asterisk 300964 LAS1-LIKE RIBOSOME BIOGENESIS FACTOR; LAS1L LAS1, S. CEREVISIAE, HOMOLOG OF Asterisk 300965 RETROTRANSPOSON GAG DOMAIN-CONTAINING PROTEIN 1; RGAG1 MAMMALIAN RETROTRANSPOSON-DERIVED GENE 9; MART9; MAR9;; KIAA1318 Number Sign 300966 MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 Number Sign 300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE; MRXSML Number Sign 300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F Asterisk 300969 G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 2; GPRASP2 GASP2 Asterisk 300970 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 4; MORC4 ZINC FINGER CW DOMAIN PROTEIN 4: ZCW4;; ZINC FINGER CW DOMAIN- AND COILED-COIL DOMAIN-CONTAINING PROTEIN 2; ZCWCC2 Number Sign 300971 BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT; BARTS5 Number Sign 300972 IMMUNODEFICIENCY 47; IMD47 IMMUNODEFICIENCY AND HEPATOPATHY WITH OR WITHOUT NEUROLOGIC FEATURES Asterisk 300973 RHOX HOMEOBOX FAMILY MEMBER 1, PSEUDOGENE 1; RHOXF1P1 lncRHOXF1 Asterisk 300974 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 1; PLCXD1 PIPLC X DOMAIN-CONTAINING PROTEIN 1 Asterisk 300975 UBIQUITIN-SPECIFIC PROTEASE 27, X-LINKED; USP27X USP27;; USP22-LIKE; USP22L Asterisk 300976 FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER D; FAM46D Percent 300977 SCHOLTE SYNDROME; SHLTS EARLY BALDING, PATELLA LUXATION, ACROMICRIA, AND HYPOGONADISM Number Sign 300978 TONNE-KALSCHEUER SYNDROME; TOKAS INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT HAND AND FOOT ANOMALIES, GENITAL ANOMALIES, OR CONGENITAL DIAPHRAGMATIC HERNIA;; MENTAL RETARDATION, X-LINKED 61; MRX61 Number Sign 300979 Xq25 DUPLICATION SYNDROME Xq25 TRIPLICATION SYNDROME, INCLUDED Asterisk 300980 KELCH-LIKE 15; KLHL15 KIAA1677 Asterisk 300981 VARIABLY CHARGED, X CHROMOSOME, 3B; VCX3B VARIABLY CHARGED, X CHROMOSOME, C; VCXC Number Sign 300982 MENTAL RETARDATION, X-LINKED 103; MRX103 Number Sign 300983 MENTAL RETARDATION, X-LINKED 104; MRX104 Number Sign 300984 MENTAL RETARDATION, X-LINKED 105; MRX105 Number Sign 300985 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED; CBAVDX Number Sign 300986 MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB Caret 300987 MOVED TO 300148 Number Sign 300988 IMMUNODEFICIENCY 50; IMD50 IMMUNODEFICIENCY 50, X-LINKED RECESSIVE Number Sign 300989 MEESTER-LOEYS SYNDROME; MRLS Number Sign 300990 MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN Number Sign 300991 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED; CILD36 CILIARY DYSKINESIA, PRIMARY, 36, WITH OR WITHOUT SITUS INVERSUS Asterisk 300992 NEGATIVE REGULATOR OF P-BODY ASSOCIATION; NBDY LONG INTERGENIC NONCODING RNA 1420; LINC01420;; NONANNOTATED P-BODY-DISSOCIATING POLYPEPTIDE; NOBODY Asterisk 300993 PAS DOMAIN-CONTAINING REPRESSOR 1; PASD1 CANCER-TESTIS ANTIGEN 63; CT63;; OXTES1 Asterisk 300994 HIGHLY DIVERGENT HOMEOBOX; HDX CHROMOSOME X OPEN READING FRAME 43; CXORF43 Asterisk 300995 KIAA1210 GENE; KIAA1210 Asterisk 300996 YIP1 DOMAIN FAMILY, MEMBER 6; YIPF6 Number Sign 300997 MENTAL RETARDATION, X-LINKED 106; MRX106 Number Sign 300998 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 Asterisk 300999 FUNCTIONAL INTERGENIC REPEATING RNA ELEMENT; FIRRE LONG INTERGENIC NONCODING RNA 1200; LINC01200 Number Sign 301000 WISKOTT-ALDRICH SYNDROME; WAS WISKOTT-ALDRICH SYNDROME 1; WAS1;; ALDRICH SYNDROME;; ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME;; IMMUNODEFICIENCY 2; IMD2 Asterisk 301001 DXZ4-ASSOCIATED NONCODING TRANSCRIPT 1, PROXIMAL; DANT1 Asterisk 301002 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 3; SRPK3 PROTEIN KINASE, ARGININE/SERINE-RICH SPLICING FACTOR, 3;; SRSF PROTEIN KINASE 3; SRPK3;; MUSCLE-SPECIFIC SERINE KINASE 1; MSSK1;; STK23 Asterisk 301003 G-PATCH DOMAIN AND KOW MOTIFS; GPKOW G-PATCH DOMAIN-CONTAINING PROTEIN 5; GPATCH5; GPATC5 Asterisk 301004 DXZ4-ASSOCIATED NONCODING TRANSCRIPT 2, DISTAL; DANT2 Asterisk 301005 FERM- AND PDZ DOMAIN-CONTAINING PROTEIN 3; FRMPD3 KIAA1817 Number Sign 301006 GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2 Asterisk 301007 ZINC FINGER, MATRIN-TYPE 1; ZMAT1 KIAA1789 Number Sign 301008 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG Asterisk 301009 P ANTIGEN FAMILY, MEMBER 5; PAGE5 PROSTATE-ASSOCIATED GENE 5;; CANCER-TESTIS ANTIGEN 16; CT16;; G ANTIGEN FAMILY E, MEMBER 1; GAGEE1 Number Sign 301010 MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26 Asterisk 301011 THYMOSIN, BETA-15B; TMSB15B Asterisk 301012 CHROMOSOME X OPEN READING FRAME 56; CXORF56 Number Sign 301013 MENTAL RETARDATION, X-LINKED 107; MRX107 Number Sign 301014 OSTEOGENESIS IMPERFECTA, TYPE XIX; OI19 Number Sign 301015 HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED Asterisk 301016 RAS-RELATED PROTEIN 2C; RAP2C Asterisk 301017 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 2C; PPP1R2C PPP1R2 FAMILY, MEMBER C;; PROTEIN PHOSPHATASE 1 INHIBITOR 4; I4;; PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 2, PSEUDOGENE 9, FORMERLY; PPP1R2P9, FORMERLY Number Sign 301018 DEAFNESS, X-LINKED 7; DFNX7 Asterisk 301019 KDM5C ADJACENT TRANSCRIPT, NONCODING; KANTR LONG INTERGENIC NONCODING TRANSCRIPT KANTR;; lincRNA KANTR;; LONG INTERGENIC NONCODING TRANSCRIPT 1155; LINC01155;; lincRNA SPASM Number Sign 301020 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12; MC1DN12 Number Sign 301021 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30; MC1DN30 Number Sign 301022 NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES; NEDXCF Asterisk 301023 MICRO RNA 532; MIR532 microRNA532;; MIR532-5p;; miRNA532-5p Number Sign 301024 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; MRX108 MENTAL RETARDATION, X-LINKED 108 Number Sign 301025 PAGANINI-MIOZZO SYNDROME; MRXSPM MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE; MRXSPM Number Sign 301026 KEIPERT SYNDROME; KPTS NASODIGITOACOUSTIC SYNDROME, FORMERLY Asterisk 301027 TBC1 DOMAIN FAMILY, MEMBER 8B; TBC1D8B Number Sign 301028 NEPHROTIC SYNDROME, TYPE 20; NPHS20 Number Sign 301029 SHUKLA-VERNON SYNDROME; SHUVER Number Sign 301030 VAN ESCH-O'DRISCOLL SYNDROME; VEODS MENTAL RETARDATION, X-LINKED, SYNDROMIC, VAN ESCH-O'DRISCOLL TYPE; MRXSVEOD Number Sign 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE;; ATR-X SYNDROME;; ATR, NONDELETION TYPE Number Sign 301050 ALPORT SYNDROME 1, X-LINKED; ATS1 ATS;; NEPHROPATHY AND DEAFNESS, X-LINKED Caret 301090 MOVED TO 273395 Caret 301100 MOVED TO 301200 Number Sign 301200 AMELOGENESIS IMPERFECTA, TYPE IE; AI1E AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1;; AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH;; AMELOGENESIS IMPERFECTA, X-LINKED 1; AIH1;; ENAMEL HYPOPLASIA, X-LINKED Percent 301201 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE, FORMERLY; AIH3, FORMERLY;; ENAMEL HYPOPLASIA, X-LINKED Number Sign 301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR XLPDR Asterisk 301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2 ALAS, ERYTHROID; ALASE;; 5-AMINOLEVULINATE SYNTHASE, ERYTHROID-SPECIFIC Number Sign 301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT NULL 301410 NEURAL TUBE DEFECTS, X-LINKED SPINA BIFIDA, X-LINKED, INCLUDED Number Sign 301500 FABRY DISEASE ANGIOKERATOMA CORPORIS DIFFUSUM;; ANDERSON-FABRY DISEASE;; HEREDITARY DYSTOPIC LIPIDOSIS;; ALPHA-GALACTOSIDASE A DEFICIENCY;; GLA DEFICIENCY;; CERAMIDE TRIHEXOSIDASE DEFICIENCY FABRY DISEASE, CARDIAC VARIANT, INCLUDED Percent 301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4 MICROPHTHALMIA WITH ANKYLOBLEPHARON AND MENTAL RETARDATION;; ANOP1, FORMERLY NULL 301700 ANOSMIA, ISOLATED CONGENITAL Asterisk 301770 ARRESTIN 3, RETINAL; ARR3 X-ARRESTIN; ARRX;; CONE ARRESTIN;; ARRESTIN 4; ARR4 Asterisk 301780 ARYLSULFATASE C, ISOZYME F; ARSC2 ARSC, f FORM NULL 301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3 SCAX3;; ATAXIA-DEAFNESS SYNDROME, X-LINKED NULL 301800 ANUS, IMPERFORATE Caret 301810 MOVED TO 215700 NULL 301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY Caret 301820 MOVED TO 208085 Number Sign 301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2 SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;; SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;; AMC, DISTAL, X-LINKED;; ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1 Number Sign 301835 ARTS SYNDROME; ARTS MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; MRXSARTS;; ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MRXS18 NULL 301840 SPINOCEREBELLAR ATAXIA, X-LINKED 4 SCAX4;; ATAXIA-DEMENTIA SYNDROME, X-LINKED Percent 301845 BAZEX SYNDROME; BZX BAZEX-DUPRE-CHRISTOL SYNDROME; BDCS;; FOLLICULAR ATROPHODERMA AND BASAL CELL CARCINOMAS NULL 301850 TUBULIN, BETA Asterisk 301870 BIGLYCAN; BGN PROTEOGLYCAN I; PGI Caret 301880 REMOVED FROM DATABASE Number Sign 301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE; MRXSBFL;; BORJESON SYNDROME; BORJ;; MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS NULL 301940 BRACHYDACTYLY, MONONEN TYPE THUMBS AND GREAT TOES, SHORT AND ABDUCTED NULL 301950 BRANCHIAL ARCH SYNDROME, X-LINKED MANDIBULOFACIAL DYSOSTOSIS, TORIELLO TYPE Percent 302000 BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM Asterisk 302020 S100 CALCIUM-BINDING PROTEIN G; S100G CALBINDIN 3; CALB3;; VITAMIN D-DEPENDENT CALCIUM-BINDING PROTEIN; CABP9K; CABP1;; CALBINDIN D9K Percent 302030 CALVARIAL HYPEROSTOSIS Number Sign 302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B CARDIOMYOPATHY, DILATED, X-LINKED; XLCM Number Sign 302060 BARTH SYNDROME; BTHS CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA;; 3-METHYLGLUTACONIC ACIDURIA, TYPE II; MGCA2;; MGA, TYPE II; MGA2 Number Sign 302200 CATARACT 40; CTRCT40 CATARACT 40 WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL, X-LINKED; CXN;; CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; CCT Caret 302300 MOVED TO 302200 Number Sign 302350 NANCE-HORAN SYNDROME; NHS CATARACT-DENTAL SYNDROME;; CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH;; MESIODENS-CATARACT SYNDROME Caret 302380 MOVED TO 616145 NULL 302400 CENTRAL INCISORS, ABSENCE OF Number Sign 302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1 OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED;; OPCA, X-LINKED; OPCAX NULL 302600 SPINOCEREBELLAR ATAXIA, X-LINKED 2 SCAX2;; CEREBELLAR ATAXIA WITH EXTRAPYRAMIDAL INVOLVEMENT, EARLY-ONSET Asterisk 302650 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1 CDR;; CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN, 34-KD; CDR34 NULL 302700 CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE Number Sign 302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 CMTX;; CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED;; HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED;; HMSN, X-LINKED;; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1;; CMT2, FORMERLY Percent 302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 2 Number Sign 302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 3 NULL 302803 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA NULL 302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED Number Sign 302905 ABRUZZO-ERICKSON SYNDROME; ABERS CHARGE-LIKE SYNDROME, X-LINKED Asterisk 302910 CHLORIDE CHANNEL 4; CLCN4 CHLORIDE CHANNEL, VOLTAGE-GATED, 4 Caret 302920 MOVED TO 305425 Caret 302940 MOVED TO 302950 Number Sign 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 CPXR;; CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC Number Sign 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 CDPXD; CPXD;; CONRADI-HUNERMANN SYNDROME;; HAPPLE SYNDROME;; CONRADI-HUNERMANN-HAPPLE SYNDROME Number Sign 303100 CHOROIDEREMIA; CHM TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE; TCD CHOROIDAL SCLEROSIS, INCLUDED Number Sign 303110 CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION CHROMOSOME Xq21 DELETION SYNDROME Number Sign 303350 MASA SYNDROME MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS;; SPASTIC PARAPLEGIA 1, X-LINKED; SPG1;; CLASPED THUMB AND MENTAL RETARDATION;; THUMB, CONGENITAL CLASPED, WITH MENTAL RETARDATION;; ADDUCTED THUMB WITH MENTAL RETARDATION;; GAREIS-MASON SYNDROME;; CRASH SYNDROME Number Sign 303400 CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED; CPX Number Sign 303600 COFFIN-LOWRY SYNDROME; CLS Asterisk 303630 COLLAGEN, TYPE IV, ALPHA-5; COL4A5 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-5 CHAIN Asterisk 303631 COLLAGEN, TYPE IV, ALPHA-6; COL4A6 COLLAGEN OF BASEMENT MEMBRANE, ALPHA-6 NULL 303650 COLONIC ATRESIA Number Sign 303700 BLUE CONE MONOCHROMACY; BCM BLUE CONE MONOCHROMATISM;; COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM CONE DYSTROPHY 5, X-LINKED, INCLUDED; COD5, INCLUDED Number Sign 303800 COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD DEUTAN COLORBLINDNESS; DCB;; DEUTERANOPIA;; GREEN COLORBLINDNESS DEUTERANOMALY, INCLUDED Number Sign 303900 COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP PROTANOPIA;; RED COLORBLINDNESS PROTANOMALY, INCLUDED Caret 304000 MOVED TO 613522 Number Sign 304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 CONE DYSTROPHY 1, X-LINKED, INCLUDED; COD1, INCLUDED NULL 304030 CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN Asterisk 304040 GAP JUNCTION PROTEIN, BETA-1; GJB1 GAP JUNCTION PROTEIN, 32-KD;; CONNEXIN 32; CX32;; LIVER CONNEXIN Percent 304050 AICARDI SYNDROME; AIC CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY Number Sign 304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Number Sign 304110 CRANIOFRONTONASAL SYNDROME; CFNS CRANIOFRONTONASAL DYSPLASIA; CFND;; CRANIOFRONTONASAL DYSOSTOSIS Number Sign 304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 OPD II SYNDROME;; OPD SYNDROME 2;; CRANIOORODIGITAL SYNDROME;; FACIOPALATOOSSEOUS SYNDROME; FPO Number Sign 304150 OCCIPITAL HORN SYNDROME; OHS CUTIS LAXA, X-LINKED, FORMERLY;; EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY;; EDS IX, FORMERLY;; EDS9, FORMERLY NULL 304200 CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION NULL 304300 CYANIDE, INABILITY TO SMELL Number Sign 304340 PETTIGREW SYNDROME; PGS MENTAL RETARDATION, X-LINKED, SYNDROMIC 5; MRXS5;; MENTAL RETARDATION, X-LINKED, WITH DANDY-WALKER MALFORMATION, BASAL GANGLIA DISEASE, AND SEIZURES;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE; MRXSF;; MENTAL RETARDATION, X-LINKED 59; MRX59;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 21; MRXS21 NULL 304350 DEAFNESS-HYPOGONADISM SYNDROME DHS Number Sign 304400 DEAFNESS, X-LINKED 2; DFNX2 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION;; DEAFNESS 3, CONDUCTIVE, WITH STAPES FIXATION; DFN3;; PERILYMPHATIC GUSHER-DEAFNESS SYNDROME;; DEAFNESS, MIXED, WITH PERILYMPHATIC GUSHER;; NANCE DEAFNESS;; SENSORINEURAL DEAFNESS, PROFOUND, WITH OR WITHOUT A CONDUCTIVE COMPONENT, ASSOCIATED WITH A UNIQUE DEVELOPMENTAL ABNORMALITY OF THE EAR Number Sign 304500 DEAFNESS, X-LINKED 1; DFNX1 DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFN2 Caret 304590 MOVED TO 304500 Caret 304600 MOVED TO 304590 Number Sign 304700 MOHR-TRANEBJAERG SYNDROME; MTS DYSTONIA-DEAFNESS SYNDROME; DDS;; DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME; DDP;; DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY;; OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA;; JENSEN SYNDROME Percent 304730 DERMOIDS OF CORNEA; CND Caret 304750 MOVED TO 306955 Number Sign 304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME; XLAAD;; IDDM-SECRETORY DIARRHEA SYNDROME; DMSD;; AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME, X-LINKED;; DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME, X-LINKED;; ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY;; POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA, X-LINKED; XPID;; DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA;; IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, FORMERLY ISLETS OF LANGERHANS, ABSENCE OF, INCLUDED Number Sign 304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED NDI;; DIABETES INSIPIDUS, NEPHROGENIC, TYPE I NULL 304900 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE Caret 304930 MOVED TO 304790 NULL 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED Caret 304990 REMOVED FROM DATABASE Number Sign 305000 DYSKERATOSIS CONGENITA, X-LINKED; DKCX ZINSSER-COLE-ENGMAN SYNDROME HOYERAAL-HREIDARSSON SYNDROME, INCLUDED; HHS, INCLUDED;; CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA, INCLUDED;; GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA, INCLUDED Caret 305050 MOVED TO 304700 Number Sign 305100 ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED; ECTD1;; XLHED;; ECTODERMAL DYSPLASIA, ANHIDROTIC, X-LINKED; EDA;; EDA1;; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; HED1;; ECTODERMAL DYSPLASIA 1; ED1;; CHRIST-SIEMENS-TOURAINE SYNDROME;; CST SYNDROME Caret 305200 MOVED TO 314400 Caret 305300 MOVED TO 302060 NULL 305350 EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2 Asterisk 305360 MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1 ERYTHROCYTE MEMBRANE PROTEIN p55; EMP55;; PALMITOYLATED ERYTHROCYTE MEMBRANE PROTEIN; PEMP Asterisk 305370 TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1 TIMP;; ERYTHROID POTENTIATING ACTIVITY; EPA;; COLLAGENASE INHIBITOR, HUMAN; HCI Asterisk 305371 GATA-BINDING PROTEIN 1; GATA1 ERYTHROID TRANSCRIPTION FACTOR 1; ERYF1;; GLOBIN TRANSCRIPTION FACTOR 1; GF1;; TRANSCRIPTION FACTOR GATA1 Number Sign 305390 EXUDATIVE VITREORETINOPATHY 2, X-LINKED; EVR2 EXUDATIVE VITREORETINOPATHY, FAMILIAL, 2;; EVRX;; FEVR, X-LINKED; FEVRX Number Sign 305400 AARSKOG-SCOTT SYNDROME; AAS FACIOGENITAL DYSPLASIA; FGDY;; FACIODIGITOGENITAL SYNDROME;; AARSKOG SYNDROME, X-LINKED FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 16, INCLUDED; MRXS16, INCLUDED Asterisk 305423 FACTOR VIII-ASSOCIATED GENE 1; F8A DXS522E;; HAP40 Asterisk 305424 FACTOR VIII-ASSOCIATED GENE 2 F8B;; DXS1253E Caret 305425 MOVED TO 134629 Percent 305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3 F-CELL PRODUCTION, X-LINKED; FCPX;; HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, SWISS TYPE;; HPFH, SWISS TYPE Number Sign 305450 OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 1; FGS1;; FG SYNDROME; FGS;; MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM;; KELLER SYNDROME NULL 305550 FINGERPRINT BODY MYOPATHY Number Sign 305600 FOCAL DERMAL HYPOPLASIA; FDH FODH; DHOF;; GOLTZ SYNDROME;; GOLTZ-GORLIN SYNDROME Number Sign 305620 FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1 FMD Caret 305645 MOVED TO 136760 Caret 305650 REMOVED FROM DATABASE Asterisk 305660 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3; GABRA3 GABA-A RECEPTOR, ALPHA-3 POLYPEPTIDE Asterisk 305670 GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR NULL 305690 GENITOURINARY TRACT ANOMALIES NULL 305700 SPERMATOGENIC FAILURE, X-LINKED, 1; SPGFX1 SERTOLI CELL-ONLY SYNDROME;; GERMINAL CELL APLASIA;; DEL CASTILLO SYNDROME NULL 305800 MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED MESANGIOCAPILLARY GLOMERULONEPHRITIS, X-LINKED Asterisk 305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD Caret 305910 MOVED TO 138130 Asterisk 305915 GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3 GLUTAMATE RECEPTOR 3; GLUR3;; GLURC NULL 305920 GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE ADP-RIBOSE PROTEIN HYDROLASE DEFICIENCY Caret 305980 MOVED TO 138140 Asterisk 305990 GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2 Number Sign 306000 GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 LIVER GLYCOGENOSIS, X-LINKED, TYPE I; XLG1;; GLYCOGEN STORAGE DISEASE VIII, FORMERLY;; GSD VIII, FORMERLY; GSD8, FORMERLY GLYCOGEN STORAGE DISEASE IXa2, INCLUDED; GSD9A2, INCLUDED;; GSD IXa2, INCLUDED;; LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED Caret 306100 MOVED TO 400044 Caret 306190 MOVED TO 300200 Asterisk 306250 COLONY-STIMULATING FACTOR 2 RECEPTOR, ALPHA; CSF2RA GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, LOW AFFINITY, ALPHA SUBUNIT; GMCSFR NULL 306300 GRANULOMAS, CONGENITAL CEREBRAL Number Sign 306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX CGD;; CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED;; CHRONIC GRANULOMATOUS DISEASE, X-LINKED CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED;; GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT, INCLUDED;; CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED Asterisk 306480 HALOACID DEHALOGENASE-LIKE HYDROLASE DOMAIN-CONTAINING 1A; HDHD1A DXF68S1E;; GS1 GENE Caret 306500 MOVED TO 312300 Caret 306600 REMOVED FROM DATABASE Number Sign 306700 HEMOPHILIA A; HEMA HEMOPHILIA, CLASSIC NULL 306800 HEMOPHILIA A WITH VASCULAR ABNORMALITY Number Sign 306900 HEMOPHILIA B; HEMB CHRISTMAS DISEASE;; FACTOR IX DEFICIENCY;; F9 DEFICIENCY;; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY HEMOPHILIA B(M), INCLUDED;; HEMOPHILIA B LEYDEN, INCLUDED NULL 306930 HEMOPOIETIC PROLIFERATION NULL 306950 HERNIA, ANTERIOR DIAPHRAGMATIC Number Sign 306955 HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 DEXTROCARDIA WITH OTHER CARDIAC MALFORMATIONS;; LATERALITY, X-LINKED;; SITUS INVERSUS, COMPLEX CARDIAC DEFECTS, AND SPLENIC DEFECTS, X-LINKED CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED, INCLUDED; CHTD1, INCLUDED Percent 306960 HHHH SYNDROME HEREDITARY HEMIHYPOTROPHY HEMIPARESIS HEMIATHETOSIS SYNDROME Caret 306970 MOVED TO 426000 NULL 306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY NULL 306990 HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE NULL 306995 HOMOSEXUALITY 1; HMS1 SEXUAL ORIENTATION, MALE Number Sign 307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS HSAS1;; HYDROCEPHALUS, X-LINKED; HYCX;; AQUEDUCTAL STENOSIS, X-LINKED; XLAS HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, INCLUDED NULL 307010 HYDROCEPHALUS WITH CEREBELLAR AGENESIS Number Sign 307030 GLYCEROL KINASE DEFICIENCY; GKD GK DEFICIENCY;; GK1 DEFICIENCY;; HYPERGLYCEROLEMIA Number Sign 307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2 CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME;; CGH;; HCG Number Sign 307200 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; IGHD3 IGHD III;; GROWTH HORMONE DEFICIENCY WITH HYPOGAMMAGLOBULINEMIA, X-LINKED;; HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;; AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED;; FLEISHER SYNDROME Caret 307300 MOVED TO 312300 NULL 307500 HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES Caret 307600 MOVED TO 602014 Number Sign 307700 HYPOPARATHYROIDISM, X-LINKED; HYPX PARATHYROID GLANDS, AGENESIS OF Number Sign 307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR HYPOPHOSPHATEMIA, X-LINKED; XLH;; HYP;; VITAMIN D-RESISTANT RICKETS, X-LINKED;; HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; HPDR Caret 307810 MOVED TO 307800 AND 300550 NULL 307830 HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION Asterisk 308000 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1 HPRT;; HGPRT Number Sign 308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS CHILD SYNDROME;; ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS Number Sign 308100 ICHTHYOSIS, X-LINKED; XLI STEROID SULFATASE DEFICIENCY;; STS DEFICIENCY;; PLACENTAL STEROID SULFATASE DEFICIENCY;; STEROID SULFATASE DEFICIENCY DISEASE; SSDD ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED NULL 308200 ICHTHYOSIS AND MALE HYPOGONADISM RUD SYNDROME, INCLUDED;; RUDS, INCLUDED Number Sign 308205 IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA Caret 308210 REMOVED FROM DATABASE NULL 308220 IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN GPL115 DEFICIENCY Number Sign 308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 HYPER-IgM IMMUNODEFICIENCY, X-LINKED; XHIM;; HYPER-IgM SYNDROME 1;; HYPER-IgM SYNDROME; HIGM; IHIS;; IMMUNODEFICIENCY 3; IMD3 Number Sign 308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 XLP;; LYMPHOPROLIFERATIVE DISEASE, X-LINKED; XLPD;; LYP;; DUNCAN DISEASE;; EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL;; EBV INFECTION, SEVERE, SUSCEPTIBILITY TO; EBVS;; INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO;; IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE;; IMMUNODEFICIENCY 5; IMD5;; PURTILO SYNDROME Percent 308250 IMMUNOGLOBULIN M, LEVEL OF Percent 308280 IMPACTED TEETH, MULTIPLE NULL 308290 IMPRINTING GENE RELATED TO RETINOBLASTOMA Number Sign 308300 INCONTINENTIA PIGMENTI; IP INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE;; BLOCH-SULZBERGER SYNDROME;; INCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLY Caret 308310 MOVED TO 308300 Number Sign 308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 INFANTILE SPASM SYNDROME, X-LINKED 1; ISSX1;; WEST SYNDROME, X-LINKED;; OHTAHARA SYNDROME, X-LINKED;; INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY;; XMESID Caret 308370 MOVED TO 312300 Asterisk 308380 INTERLEUKIN 2 RECEPTOR, GAMMA; IL2RG INTERLEUKIN RECEPTOR, COMMON GAMMA CHAIN;; INTERLEUKIN RECEPTOR, GAMMA-C;; CD132 ANTIGEN; CD132 Asterisk 308385 INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA CD123 ANTIGEN; CD123 Caret 308400 REMOVED FROM DATABASE NULL 308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG NULL 308600 JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY Number Sign 308700 HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 KALLMANN SYNDROME 1; KAL1;; KMS;; HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA; HHA;; DYSPLASIA OLFACTOGENITALIS OF DE MORSIER;; ANOSMIC HYPOGONADISM NULL 308750 KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA SPASTIC PARAPLEGIA-KALLMANN SYNDROME Number Sign 308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI NULL 308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY Asterisk 308840 L1 CELL ADHESION MOLECULE; L1CAM MIC5;; NEURAL CELL ADHESION MOLECULE L1; CAML1 NULL 308850 LARYNGEAL ABDUCTOR PARALYSIS VOCAL CORD DYSFUNCTION, FAMILIAL;; PLOTT SYNDROME Percent 308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO LOAS;; LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF;; LHON, MODIFIER OF Caret 308930 MOVED TO 312170 Number Sign 308940 LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME; DL-ATS LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY;; ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS; ATS-DL;; CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME NULL 308950 LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT NULL 308960 LEUKEMIA, ACUTE, ?X-LINKED Caret 308980 MOVED TO 151660 Number Sign 308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS Number Sign 309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL OCRL1;; LOWE SYNDROME;; PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY NULL 309050 LUTHERAN SUPPRESSOR, X-LINKED; XS LUXS Asterisk 309060 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN B; LAMPB;; LYSOSOMAL MEMBRANE GLYCOPROTEIN, 110-KD; LGP110;; CD107B Percent 309100 MACULAR DYSTROPHY, X-LINKED Number Sign 309120 SPERMATOGENIC FAILURE, X-LINKED, 2; SPGFX2 MALE INFERTILITY FROM DEFECT IN MEIOSIS Caret 309150 MOVED TO 614279 Percent 309200 MAJOR AFFECTIVE DISORDER 2; MAFD2 MANIC-DEPRESSIVE ILLNESS; MDI;; MANIC-DEPRESSIVE PSYCHOSIS, X-LINKED; MDX;; BIPOLAR AFFECTIVE DISORDER; BPAD Number Sign 309300 MEGALOCORNEA; MGC1 MGCN Number Sign 309350 MELNICK-NEEDLES SYNDROME; MNS MELNICK-NEEDLES OSTEODYSPLASTY;; OSTEODYSPLASTY OF MELNICK AND NEEDLES Number Sign 309400 MENKES DISEASE MK; MNK;; MENKES SYNDROME;; KINKY HAIR DISEASE;; STEELY HAIR DISEASE;; COPPER TRANSPORT DISEASE Caret 309470 MOVED TO 309500 NULL 309480 MENTAL RETARDATION AND PSORIASIS Caret 309490 MOVED TO 309580 Number Sign 309500 RENPENNING SYNDROME 1; RENS1 MENTAL RETARDATION, X-LINKED, RENPENNING TYPE;; SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS;; GOLABI-ITO-HALL SYNDROME;; MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 8; MRXS8;; MENTAL RETARDATION, X-LINKED 55; MRX55 Number Sign 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS PARTINGTON SYNDROME;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 1; MRXS1;; MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, AND SEIZURES;; MENTAL RETARDATION, X-LINKED 36; MRX36 Number Sign 309520 LUJAN-FRYNS SYNDROME MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS Number Sign 309530 MENTAL RETARDATION, X-LINKED 1; MRX1 MRX;; MENTAL RETARDATION, X-LINKED 18; MRX18;; MENTAL RETARDATION, X-LINKED 78; MRX78 Caret 309540 MOVED TO 309548 Number Sign 309541 METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE MENTAL RETARDATION, X-LINKED 3; MRX3 Percent 309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12 Number Sign 309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE FRAXE MENTAL RETARDATION SYNDROME Number Sign 309549 MENTAL RETARDATION, X-LINKED 9; MRX9 MENTAL RETARDATION, X-LINKED 44; MRX44 Asterisk 309550 FMR1 GENE; FMR1 FRAGILE X MENTAL RETARDATION PROTEIN; FMRP FRAGILE SITE, FOLIC ACID TYPE, RARE, fraXq27.3, INCLUDED; FRAXA, INCLUDED Percent 309555 MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES GUSTAVSON SYNDROME; GUST Percent 309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS Number Sign 309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 SMITH-FINEMAN-MYERS SYNDROME 1; SFM1;; SFMS;; XLMR-HYPOTONIC FACIES SYNDROME;; CARPENTER-WAZIRI SYNDROME;; CHUDLEY-LOWRY SYNDROME;; HOLMES-GANG SYNDROME Number Sign 309583 MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR SNYDER-ROBINSON MENTAL RETARDATION SYNDROME; SRS Number Sign 309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS MENTAL RETARDATION, X-LINKED, SYNDROMIC 6; MRXS6;; MENTAL RETARDATION, X-LINKED, WITH GYNECOMASTIA AND OBESITY Number Sign 309590 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST JUBERG-MARSIDI SYNDROME; JMS;; BROOKS-WISNIEWSKI-BROWN SYNDROME;; MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM;; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE; MRXSBWB;; MENTAL RETARDATION AND MACROCEPHALY SYNDROME Caret 309600 MOVED TO 300523 Caret 309605 MOVED TO 314580 Percent 309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS MENTAL RETARDATION, X-LINKED, SYNDROMIC 2; MRXS2;; MENTAL RETARDATION, X-LINKED, WITH DYSMORPHISM AND CEREBRAL ATROPHY Percent 309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD CHRISTIAN SYNDROME; CHRS Number Sign 309630 METACARPAL 4-5 FUSION; MF4 NULL 309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA Caret 309645 MOVED TO 602111 Caret 309660 MOVED TO 300257 Caret 309700 MOVED TO 310600 Number Sign 309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 LENZ MICROPHTHALMIA SYNDROME;; LENZ DYSPLASIA;; MAA, FORMERLY Number Sign 309801 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7;; MICROPHTHALMIA WITH LINEAR SKIN DEFECTS; MLS;; MICROPHTHALMIA, DERMAL APLASIA, AND SCLEROCORNEA;; MIDAS SYNDROME NULL 309840 MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS TOURETTE SYNDROME, MODIFIER OF Asterisk 309845 MOESIN; MSN MEMBRANE-ORGANIZING EXTENSION SPIKE PROTEIN Asterisk 309850 MONOAMINE OXIDASE A; MAOA AMINE OXIDASE (FLAVIN-CONTAINING) A Asterisk 309860 MONOAMINE OXIDASE B; MAOB MAO, PLATELET;; MAO, BRAIN;; AMINE OXIDASE (FLAVIN-CONTAINING) B Number Sign 309900 MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 MPS II;; HUNTER SYNDROME;; IDURONATE 2-SULFATASE DEFICIENCY;; IDS DEFICIENCY;; SULFOIDURONATE SULFATASE DEFICIENCY;; SIDS DEFICIENCY NULL 309930 MUSCULAR DYSTROPHY, CARDIAC TYPE NULL 309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE NULL 310000 MUSCULAR DYSTROPHY, MABRY TYPE NULL 310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL MUSCULAR DYSTROPHY, PROGRESSIVE, INVOLVING SHOULDER GIRDLE AND BACK Number Sign 310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD DUCHENNE MUSCULAR DYSTROPHY;; MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE Number Sign 310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 EMD1;; MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES;; SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY;; HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY Caret 310305 MOVED TO 601415 Asterisk 310310 MYCL-RELATED PROCESSED GENE; MYCL2 NULL 310350 MYELOLYMPHATIC INSUFFICIENCY PELGER-LIKE ANOMALY WITH LEUKOPENIA AND SUSCEPTIBILITY TO INFECTIONS NULL 310370 MYOCLONIC EPILEPSY, PROGRESSIVE Number Sign 310400 MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX MYOTUBULAR MYOPATHY, X-LINKED; MTMX; XLMTM;; MYOTUBULAR MYOPATHY 1; MTM1 Number Sign 310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX XMEA Caret 310450 MOVED TO 159000 Percent 310460 MYOPIA 1, X-LINKED; MYP1 NULL 310465 N SYNDROME; NSX Number Sign 310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1;; UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1;; NEPHROLITHIASIS 1; NPHL1 NULL 310470 NEUROPATHY, HEREDITARY SENSORY, X-LINKED Number Sign 310490 COWCHOCK SYNDROME; COWCK CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4; CMTX4;; CHARCOT-MARIE-TOOTH DISEASE WITH DEAFNESS AND MENTAL RETARDATION;; NEUROPATHY, AXONAL MOTOR-SENSORY, WITH DEAFNESS AND MENTAL RETARDATION; NAMSD;; NADMR Number Sign 310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A CSNB, COMPLETE, X-LINKED;; NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA;; HEMERALOPIA-MYOPIA;; MYOPIA-NIGHT BLINDNESS; NBM1 NYCTALOPIA, INCLUDED Number Sign 310600 NORRIE DISEASE; ND ATROPHIA BULBORUM HEREDITARIA;; EPISKOPI BLINDNESS NULL 310650 NUCLEAR RIBONUCLEIC ACID; nRNA Number Sign 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 NYSTAGMUS, CONGENITAL MOTOR, 1;; NYSTAGMUS 1, INFANTILE, X-LINKED;; NYSTAGMUS, INFANTILE IDIOPATHIC, FORMERLY; IIN, FORMERLY NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED; XIPAN, INCLUDED;; XLPAN, INCLUDED NULL 310800 NYSTAGMUS, MYOCLONIC NULL 310900 OCCIPITAL HAIR, WHITE LOCK OF NULL 310980 OMPHALOCELE, X-LINKED Caret 310990 MOVED TO 190020 Percent 311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM MYOPIA-OPHTHALMOPLEGIA SYNDROME Asterisk 311010 V-RAF MURINE SARCOMA 3611 VIRAL ONCOGENE HOMOLOG 1; ARAF1 ONCOGENE ARAF1;; RAFA1;; ONCOGENE PKS2 Caret 311020 MOVED TO 311010 Asterisk 311030 MCF.2 CELL LINE-DERIVED TRANSFORMING SEQUENCE; MCF2 ONCOGENE MCF2;; ONCOGENE DBL; DBL Asterisk 311040 ELK1, MEMBER OF ETS ONCOGENE FAMILY; ELK1 ONCOGENE ELK1 ELK2, MEMBER OF ETS ONCOGENE FAMILY, PSEUDOGENE 1, INCLUDED Percent 311050 OPTIC ATROPHY 2; OPA2 OPTIC ATROPHY, X-LINKED;; OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET Number Sign 311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 OPTIC ATROPHY, POLYNEUROPATHY, AND DEAFNESS;; ROSENBERG-CHUTORIAN SYNDROME;; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5 NULL 311100 OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME Caret 311150 MOVED TO 304700 Number Sign 311200 OROFACIODIGITAL SYNDROME I; OFD1 ORAL-FACIAL-DIGITAL SYNDROME, TYPE I;; OFDS I;; PAPILLON-LEAGE AND PSAUME SYNDROME Asterisk 311240 TBC1 DOMAIN FAMILY, MEMBER 25; TBC1D25 ORNITHINE AMINOTRANSFERASE-LIKE 1; OATL1 Caret 311241 MOVED TO 258870 Number Sign 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY;; OTC DEFICIENCY VALPROATE SENSITIVITY, INCLUDED Caret 311280 MOVED TO 300373 Number Sign 311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 OPD I SYNDROME;; OPD SYNDROME 1 OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED;; FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED NULL 311350 OUABAIN RESISTANCE; OUBR Number Sign 311360 PREMATURE OVARIAN FAILURE 1; POF1 PREMATURE OVARIAN FAILURE, X-LINKED; POFX;; HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKED;; OVARIAN FAILURE, PREMATURE; POF;; PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED;; FRAGILE X PREMATURE OVARIAN FAILURE NULL 311400 PAINE SYNDROME MICROCEPHALY WITH SPASTIC DIPLEGIA SEEMANOVA SYNDROME I, INCLUDED NULL 311450 PALLISTER W SYNDROME W SYNDROME Number Sign 311510 WAISMAN SYNDROME; WSMN PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION;; BASAL GANGLION DISORDER WITH MENTAL RETARDATION; BGMR;; WSN Asterisk 311550 CYCLIN-DEPENDENT KINASE 16; CDK16 PCTAIRE PROTEIN KINASE 1; PCTK1;; PCTAIRE1 Caret 311601 MOVED TO 312080 Caret 311700 REMOVED FROM DATABASE Caret 311750 MOVED TO 170650 Asterisk 311770 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN; PIGA PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN, PSEUDOGENE 1, INCLUDED; PIGAP1, INCLUDED; PIGAP, INCLUDED Asterisk 311790 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 1; PFKFB1 PFKFB, LIVER;; PFRX Asterisk 311800 PHOSPHOGLYCERATE KINASE 1; PGK1 3-PHOSPHOGLYCEROKINASE;; PGKA PHOSPHOGLYCERATE KINASE 1 PSEUDOGENE 1, INCLUDED; PGK1P1, INCLUDED;; PHOSPHOGLYCERATE KINASE 1 PSEUDOGENE 2, INCLUDED; PGK1P2, INCLUDED Caret 311810 MOVED TO 311800 Asterisk 311850 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE I; PRPS1 Asterisk 311860 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE II; PRPS2 Asterisk 311870 PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1 NULL 311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES Number Sign 311900 TARP SYNDROME; TARPS TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENCE OF LEFT SUPERIOR VENA CAVA;; PIERRE ROBIN SYNDROME WITH CONGENITAL HEART MALFORMATION AND CLUBFOOT Number Sign 312000 PANHYPOPITUITARISM, X-LINKED; PHPX PITUITARY DWARFISM IV, FORMERLY Caret 312030 REMOVED FROM DATABASE Asterisk 312040 POLYMERASE, DNA, ALPHA-1; POLA1 POLA DNA POLYMERASE-ALPHA, p180 SUBUNIT Number Sign 312060 PROPERDIN DEFICIENCY, X-LINKED; CFPD PROPERDIN P FACTOR DEFICIENCY; PFD;; COMPLEMENT FACTOR PROPERDIN DEFICIENCY;; PROPERDIN DEFICIENCY, TYPE I PROPERDIN DEFICIENCY, TYPE II, INCLUDED;; PROPERDIN DEFICIENCY, TYPE III, INCLUDED Asterisk 312070 UBIQUITIN-LIKE 4A; UBL4A UBL4;; GDX;; DXS254E Number Sign 312080 PELIZAEUS-MERZBACHER DISEASE; PMD LEUKODYSTROPHY, HYPOMYELINATING, 1; HLD1 Asterisk 312090 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY) MEMBER 3; SLC10A3 PROTEIN P3 Asterisk 312095 A-KINASE ANCHOR PROTEIN 17A; AKAP17A SPLICING FACTOR, ARGININE/SERINE-RICH, 17A; SFRS17A;; PSEUDOAUTOSOMAL GENE XE7;; DXYS155E Caret 312100 MOVED TO 312300 Percent 312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED PTERYGIUM SYNDROME, MULTIPLE, X-LINKED Number Sign 312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;; PYRUVATE DECARBOXYLASE DEFICIENCY;; ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM;; PDH DEFICIENCY;; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY;; ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED Asterisk 312173 RIBOSOMAL PROTEIN L10; RPL10 QM GENE Asterisk 312180 UBIQUITIN-CONJUGATING ENZYME E2A; UBE2A RAD6, YEAST, HOMOLOG OF, TYPE A; RAD6A;; HHR6A NULL 312190 RADIAL APLASIA, X-LINKED RADIAL APLASIA AND ANOGENITAL ANOMALIES NULL 312200 RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER NULL 312210 RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY X-RAY NK SENSITIVITY; XNKS Number Sign 312300 ANDROGEN INSENSITIVITY, PARTIAL; PAIS REIFENSTEIN SYNDROME;; ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER;; FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1 Caret 312390 MOVED TO 314310 Caret 312400 MOVED TO 604278 Asterisk 312420 RENIN-BINDING PROTEIN; RENBP Caret 312450 MOVED TO 252010 Percent 312500 RETICULOENDOTHELIOSIS, X-LINKED Caret 312530 REMOVED FROM DATABASE NULL 312550 RETINAL DYSPLASIA, PRIMARY; PRD Number Sign 312600 RETINITIS PIGMENTOSA 2; RP2 Asterisk 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR Percent 312612 RETINITIS PIGMENTOSA 6; RP6 RETINITIS PIGMENTOSA, X-LINKED RECESSIVE, 6 Number Sign 312700 RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1 XLRS1;; RS Number Sign 312750 RETT SYNDROME; RTT RTS;; AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED;; RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED;; RETT SYNDROME, ATYPICAL, INCLUDED Asterisk 312760 RIBOSOMAL PROTEIN S4, X-LINKED; RPS4X SINGLE-COPY ABUNDANT mRNA; SCAR;; CELL CYCLE GENE 2; CCG2 NULL 312780 RUSSELL-SILVER SYNDROME, X-LINKED RUSSELL-SILVER-LIKE SYNDROME WITH SKIN PIGMENTATION;; PARTINGTON SYNDROME Caret 312800 MOVED TO 600145 Asterisk 312820 SARCOMA, SYNOVIAL, X BREAKPOINT 1; SSX1 SARCOMA, SYNOVIAL, X-CHROMOSOME-RELATED 1;; SSRC SSX1-SYT FUSION GENE, INCLUDED NULL 312830 SCARF SYNDROME SKELETAL ABNORMALITIES, CUTIS LAXA, CRANIOSTENOSIS, AMBIGUOUS GENITALIA, RETARDATION, AND FACIAL ABNORMALITIES NULL 312840 SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME CHOREOATHETOSIS WITH MENTAL RETARDATION, X-LINKED Caret 312860 MOVED TO 272440 Asterisk 312861 5-HYDROXYTRYPTAMINE RECEPTOR 2C; HTR2C SEROTONIN 5-HT-2C RECEPTOR;; SEROTONIN 5-HT-1C RECEPTOR, FORMERLY; HTR1C, FORMERLY Number Sign 312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX XCID;; IMMUNODEFICIENCY 6; IMD6 Asterisk 312865 SHORT STATURE HOMEOBOX; SHOX PSEUDOAUTOSOMAL HOMEOBOX-CONTAINING OSTEOGENIC GENE; PHOG Number Sign 312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 SGBS;; BULLDOG SYNDROME;; DYSPLASIA GIGANTISM SYNDROME, X-LINKED; DGSX;; GOLABI-ROSEN SYNDROME;; SIMPSON DYSMORPHIA SYNDROME; SDYS Caret 312890 MOVED TO 312920 Caret 312900 MOVED TO 303350 NULL 312910 SPASTIC PARAPARESIS AND DEAFNESS Number Sign 312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 SPPX2 Percent 313000 SPATIAL VISUALIZATION, APTITUDE FOR VISUOSPATIAL/PERCEPTUAL ABILITIES; VSPA TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE, INCLUDED Asterisk 313020 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 1; SAT1 SSAT;; SSAT1 Caret 313100 MOVED TO 605041 Number Sign 313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 SPINAL AND BULBAR MUSCULAR ATROPHY; SBMA;; KENNEDY DISEASE; KD;; KENNEDY SPINAL AND BULBAR MUSCULAR ATROPHY;; BULBOSPINAL MUSCULAR ATROPHY, X-LINKED;; BULBOSPINAL NEURONOPATHY, X-LINKED RECESSIVE; XBSN Percent 313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2 SPLIT-HAND/SPLIT-FOOT ANOMALY, X-LINKED;; SPLIT-HAND/FOOT DEFORMITY 2; SHFD2;; SHSF2 Number Sign 313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT SED TARDA, X-LINKED;; SPONDYLOEPIPHYSEAL DYSPLASIA, LATE Percent 313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED SPONDYLOMETAPHYSEAL DYSPLASIA, RICHMOND TYPE Asterisk 313430 SRY-BOX 3; SOX3 SRY-RELATED HMG-BOX GENE 3 Asterisk 313440 SYNAPSIN I; SYN1 BRAIN PROTEIN 4.1 Caret 313450 REMOVED FROM DATABASE Caret 313460 REMOVED FROM DATABASE Asterisk 313470 CD99 ANTIGEN, X CHROMOSOME; CD99 MIC2 SURFACE ANTIGEN, X CHROMOSOME; MIC2X;; CELL SURFACE ANTIGEN 12E7, X CHROMOSOME;; E2 ANTIGEN, X CHROMOSOME;; CELL SURFACE ANTIGEN HBA-71, X CHROMOSOME; HBA71;; CELL SURFACE ANTIGEN O13, X CHROMOSOME;; MSK5X Asterisk 313475 SYNAPTOPHYSIN; SYP NULL 313480 TaqI POLYMORPHISM; TAQ1 NULL 313490 TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS Number Sign 313500 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 HYPODONTIA/OLIGODONTIA, X-LINKED, 1 Caret 313550 REMOVED FROM DATABASE Asterisk 313650 TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 250-KD; TAF1 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250;; CELL CYCLE, G1 PHASE DEFECT; CCG1;; CELL CYCLE GENE 1;; CELL CYCLE BLOCK, G1-TO-S; CCGS;; BA2R TRANSCRIPTION FACTOR IID, INCLUDED; TFIID, INCLUDED; TF2D, INCLUDED;; TATA-BINDING PROTEIN-CONTAINING COMPLEX, INCLUDED Caret 313680 MOVED TO 187395 Asterisk 313700 ANDROGEN RECEPTOR; AR DIHYDROTESTOSTERONE RECEPTOR; DHTR;; NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 4; NR3C4 Percent 313850 THORACOABDOMINAL SYNDROME; THAS TAS MIDLINE DEFECTS, X-LINKED, INCLUDED;; PENTALOGY OF CANTRELL, INCLUDED Number Sign 313900 THROMBOCYTOPENIA 1; THC1 THC;; THROMBOCYTOPENIA, X-LINKED; XLT;; THROMBOCYTOPENIA, X-LINKED, 1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED NULL 314000 THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE Number Sign 314050 THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS NULL 314100 THUMBS, CONGENITAL CLASPED ADDUCTED THUMBS SYNDROME Asterisk 314200 THYROXINE-BINDING GLOBULIN OF SERUM; TBG SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 7; SERPINA7;; T4-BINDING GLOBULIN;; TBG, SERUM NULL 314240 TOOTH SIZE Number Sign 314250 DYSTONIA 3, TORSION, X-LINKED; DYT3 DYSTONIA-PARKINSONISM, X-LINKED; XDP;; TORSION DYSTONIA-PARKINSONISM, FILIPINO TYPE Percent 314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR TKC;; TKCR SYNDROME;; GOEMINNE SYNDROME Asterisk 314310 TRANSCRIPTION FACTOR FOR IMMUNOGLOBULIN HEAVY-CHAIN ENHANCER 3; TFE3 TFE3/ASPSCR1 FUSION GENE, INCLUDED;; TFE3/PRCC FUSION GENE, INCLUDED;; TFE3/SFPQ FUSION GENE, INCLUDED;; TFE3/CLTC FUSION GENE, INCLUDED NULL 314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY SAY-MEYER SYNDROME; SAMES Caret 314350 REMOVED FROM DATABASE NULL 314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET Asterisk 314370 UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 1; UBA1 UBIQUITIN-ACTIVATING ENZYME 1; UBE1;; BN75 TEMPERATURE SENSITIVITY COMPLEMENTING; GXP1 TEMPERATURE-SENSITIVE MUTATION, MOUSE, COMPLEMENTATION OF, INCLUDED;; tsA1S9, INCLUDED;; A1S9T, INCLUDED;; A1S9, INCLUDED Asterisk 314375 SOLUTE CARRIER FAMILY 35 (UDP-GALACTOSE TRANSPORTER), MEMBER 2; SLC35A2 UDP-GALACTOSE TRANSLOCATOR; UGALT UDP-GALACTOSE TRANSPORTER, ISOFORM 1, INCLUDED; UGT1, INCLUDED;; UDP-GALACTOSE TRANSPORTER, ISOFORM 2, INCLUDED; UGT2, INCLUDED Percent 314380 UNIQUE GREEN PHENOMENON Number Sign 314390 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX VACTERL-H, X-LINKED Number Sign 314400 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 VALVULAR HEART DISEASE, CONGENITAL;; MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED; XMVD;; EHLERS-DANLOS SYNDROME, TYPE V, FORMERLY; EDS5, FORMERLY Percent 314500 VAN DEN BOSCH SYNDROME NULL 314550 VESICOURETERAL REFLUX, X-LINKED; VURX Caret 314555 MOVED TO 604492 NULL 314560 VON WILLEBRAND DISEASE, X-LINKED FORM NULL 314570 WIDOW'S PEAK SYNDROME WIDOW'S PEAK, PTOSIS, AND SKELETAL ANOMALIES Number Sign 314580 WIEACKER-WOLFF SYNDROME; WRWF WIEACKER SYNDROME;; CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA;; APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY;; MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS;; MENTAL RETARDATION, X-LINKED, SYNDROMIC 4; MRXS4;; MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES Percent 314600 WILDERVANCK SYNDROME CERVICOOCULOACOUSTIC SYNDROME Asterisk 314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST X INACTIVATION CENTER, INCLUDED; XIC, INCLUDED Asterisk 314690 LYSINE-SPECIFIC DEMETHYLASE 5C; KDM5C JUMONJI, AT-RICH INTERACTIVE DOMAIN 1C; JARID1C;; SELECTED cDNA ON X, MOUSE, HOMOLOG OF; SMCX;; XE169;; DXS1272E NULL 314700 BLOOD GROUP, XG SYSTEM; XG XG BLOOD GROUP SYSTEM Percent 314705 XG REGULATOR; XGR XG AND MIC2 EXPRESSION ON ERYTHROCYTES NULL 314800 XH ANTIGEN Asterisk 314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK KELL BLOOD GROUP PRECURSOR;; XK LOCUS;; PRECURSOR SUBSTANCE, KELL BLOOD GROUP; KX;; KELL COMPLEX, 37-KD COMPONENT Percent 314900 XM SYSTEM Caret 314920 REMOVED FROM DATABASE Caret 314940 REMOVED FROM DATABASE Caret 314960 REMOVED FROM DATABASE Asterisk 314980 ZINC FINGER PROTEIN, X-LINKED; ZFX Asterisk 314990 ZINC FINGER PROTEIN 711; ZNF711 ZINC FINGER PROTEIN 6; ZNF6;; CMPX1 Asterisk 314993 ZINC FINGER PROTEIN 182; ZNF182 ZINC FINGER PROTEIN 21; ZNF21 Asterisk 314995 ZINC FINGER PROTEIN 41; ZNF41 Asterisk 314997 ZINC FINGER PROTEIN 75D; ZNF75D ZINC FINGER PROTEIN 75; ZNF75 Asterisk 314998 ZINC FINGER PROTEIN 81; ZNF81 Caret 315000 MOVED TO 302200 Caret 400000 REMOVED FROM DATABASE Caret 400001 MOVED TO 426000 Caret 400002 MOVED TO 314700 Asterisk 400003 DELETED IN AZOOSPERMIA; DAZ DAZ1 DELETED IN AZOOSPERMIA 4, INCLUDED; DAZ4, INCLUDED Percent 400004 RETINITIS PIGMENTOSA, Y-LINKED; RPY Asterisk 400005 UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y DROSOPHILA FAT FACETS-RELATED, Y-LINKED; DFFRY Asterisk 400006 RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1, MEMBER A1; RBMY1A1 RBMY;; RNA-BINDING MOTIF PROTEIN 1; RBM1;; RNA-BINDING MOTIF PROTEIN 2; RBM2;; Y CHROMOSOME RNA RECOGNITION MOTIF 1; YRRM1;; Y CHROMOSOME RNA RECOGNITION MOTIF 2; YRRM2 Caret 400007 MOVED TO 400006 Asterisk 400008 PROTEIN KINASE, Y-LINKED; PRKY Asterisk 400009 UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT GENE ON Y CHROMOSOME; UTY UTY1;; LYSINE-SPECIFIC DEMETHYLASE 6C; KDM6C Asterisk 400010 DEAD/H BOX 3, Y-LINKED; DDX3Y DBY Asterisk 400011 ACETYLSEROTONIN METHYLTRANSFERASE-LIKE, Y-LINKED ASMTLY Asterisk 400012 VARIABLY CHARGED, Y CHROMOSOME; VCY VCY1;; BASIC PROTEIN, Y CHROMOSOME, 1; BPY1 Asterisk 400013 BASIC PROTEIN, Y CHROMOSOME, 2; BPY2 BPY2A;; VARIABLY CHARGED, Y CHROMOSOME, 2; VCY2;; VCY2A Asterisk 400014 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, Y-LINKED; EIF1AY Asterisk 400015 XK-RELATED PROTEIN ON Y CHROMOSOME XKRY Asterisk 400016 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 1; CDY1 CDY Asterisk 400017 THYMOSIN, BETA-4, Y CHROMOSOME; TMSB4Y TB4Y Asterisk 400018 CHROMODOMAIN PROTEIN, Y CHROMOSOME, 2; CDY2 Asterisk 400019 PTPBL-RELATED GENE ON Y; PRY PTPBL-RELATED GENE ON Y, 1; PRY1;; PTPN13-LIKE, Y-LINKED; PTPN13LY Asterisk 400020 SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY Percent 400021 LYMPHOMA, HODGKIN, Y-LINKED PSEUDOAUTOSOMAL HODGKIN DISEASE, Y-LINKED PSEUDOAUTOSOMAL Asterisk 400022 PROTOCADHERIN 11, Y-LINKED; PCDH11Y PROTOCADHERIN, Y CHROMOSOME; PCDHY;; PROTOCADHERIN 22, FORMERLY; PCDH22, FORMERLY Asterisk 400023 CYTOKINE RECEPTOR-LIKE FACTOR 2, Y-LINKED; CRLF2Y Caret 400024 MOVED TO 415000 Asterisk 400025 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, Y-LINKED; TGIF2LY TGIFLY Asterisk 400026 DELETED IN AZOOSPERMIA 2; DAZ2 Asterisk 400027 DELETED IN AZOOSPERMIA 3; DAZ3 Asterisk 400028 NEUROLIGIN 4, Y-LINKED; NLGN4Y KIAA0951 Asterisk 400029 HEAT-SHOCK TRANSCRIPTION FACTOR, Y-LINKED; HSFY Asterisk 400030 RIBOSOMAL PROTEIN S4, Y-LINKED, 2; RPS4Y2 Asterisk 400031 CHROMOSOME Y OPEN READING FRAME 15A; CYORF15A Asterisk 400032 CHROMOSOME Y OPEN READING FRAME 15B; CYORF15B Asterisk 400033 TRANSDUCIN-BETA-LIKE 1, Y-LINKED; TBL1Y Asterisk 400034 CHONDROITIN SULFATE PROTEOGLYCAN 4 PSEUDOGENE 1, Y-LINKED; CSPG4P1Y CHONDROITIN SULFATE PROTEOGLYCAN 4-LIKE, Y-LINKED; CSPG4LY;; CSPG4-LIKE, Y-LINKED Asterisk 400035 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 2-LIKE, Y-LINKED; GOLGA2LY GOLGA2-LIKE, Y-LINKED Asterisk 400036 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 3; TTTY3 Asterisk 400037 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 4; TTTY4 Asterisk 400038 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 5; TTTY5 Asterisk 400039 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 6; TTTY6 Asterisk 400040 TESTIS-SPECIFIC TRANSCRIPT, Y-LINKED, 17; TTTY17 Asterisk 400041 PTPBL-RELATED GENE ON Y, 2; PRY2 PTPN13-LIKE GENE, Y-LINKED, 2;; PTPN13-LIKE GENE, Y-LINKED, CENTROMERIC Number Sign 400042 SPERMATOGENIC FAILURE, Y-LINKED, 1; SPGFY1 SERTOLI CELL-ONLY SYNDROME, Y-LINKED;; SERTOLI CELL-ONLY SYNDROME, TYPE I SERTOLI CELL-ONLY SYNDROME, TYPE II, INCLUDED;; HYPOSPERMATOGENESIS, INCLUDED;; INCOMPLETE SERTOLI CELL-ONLY SYNDROME, INCLUDED Percent 400043 DEAFNESS, Y-LINKED 1; DFNY1 Number Sign 400044 46,XY SEX REVERSAL 1; SRXY1 46,XY SEX REVERSAL, SRY-RELATED;; 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED 46,XY TRUE HERMAPHRODITISM, SRY-RELATED, INCLUDED;; TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY, INCLUDED; TDFX, FORMERLY, INCLUDED;; SEX-REVERSING LOCUS ON X, FORMERLY, INCLUDED; SRVX, FORMERLY, INCLUDED Number Sign 400045 46,XX SEX REVERSAL 1; SRXX1 46,XX SEX REVERSAL, SRY-POSITIVE;; XX MALE, SRY-POSITIVE;; 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT;; 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE, INCLUDED;; OVOTESTICULAR DISORDER OF SEX DEVELOPMENT, INCLUDED;; OVOTESTICULAR DSD, INCLUDED Asterisk 400046 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 1, Y-LINKED PLCXD1Y;; PIPLC X DOMAIN-CONTAINING PROTEIN 1, Y-LINKED Number Sign 400047 DEAFNESS, Y-LINKED 2; DFNY2 Asterisk 402500 ACETYLSEROTONIN METHYLTRANSFERASE, Y-CHROMOSOMAL; ASMT ASMTY;; HYDROXYINDOLE-O-METHYLTRANSFERASE, Y-CHROMOSOMAL; HIOMTY Asterisk 403000 ADENINE NUCLEOTIDE TRANSLOCATOR 3, Y-CHROMOSOMAL; ANT3Y Asterisk 410000 AMELOGENIN, Y-CHROMOSOMAL; AMELY AMGY;; AMELOGENIN-LIKE; AMGL Number Sign 415000 SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED;; AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED;; OLIGOZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED;; OLIGOSPERMIA, NONOBSTRUCTIVE, Y-LINKED;; SPERMATOGENIC ARREST, Y-LINKED AZOOSPERMIA FACTOR REGIONS, INCLUDED;; AZF REGIONS, INCLUDED Caret 424000 REMOVED FROM DATABASE NULL 424500 GONADOBLASTOMA; GBY Asterisk 425000 GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR RECEPTOR, ALPHA SUBUNIT, Y-CHROMOSOMAL; CSF2RY NULL 425500 HAIRY EARS, Y-LINKED HYPERTRICHOSIS PINNAE AURIS, Y-LINKED Asterisk 426000 LYSINE-SPECIFIC DEMETHYLASE 5D; KDM5D JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D;; SELECTED cDNA ON Y, MOUSE, HOMOLOG OF; SMCY;; HISTOCOMPATIBILITY Y ANTIGEN; HY; HYA;; H-Y ANTIGEN Asterisk 430000 INTERLEUKIN 3 RECEPTOR, Y-CHROMOSOMAL; IL3RA IL3RY;; IL3RAY Asterisk 450000 CD99 ANTIGEN, Y CHROMOSOME MIC2 SURFACE ANTIGEN, Y CHROMOSOME; MIC2Y;; CELL SURFACE ANTIGEN 12E7, Y CHROMOSOME;; CELL SURFACE ANTIGEN HBA-71, Y CHROMOSOME; HBA71;; E2 ANTIGEN, Y CHROMOSOME;; CELL SURFACE ANTIGEN O13, Y CHROMOSOME Asterisk 465000 A-KINASE ANCHOR PROTEIN 17A, Y-CHROMOSOMAL; AKAP17A SPLICING FACTOR, ARGININE/SERINE RICH, 17A, Y-CHROMOSOMAL; SFRS17A;; PSEUDOAUTOSOMAL GENE XE7, Y-CHROMOSOMAL; XE7Y Asterisk 470000 RIBOSOMAL PROTEIN S4, Y-LINKED, 1; RPS4Y1 Percent 475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY STATURE; STA;; TOOTH SIZE; TS; TSY Asterisk 480000 SEX-DETERMINING REGION Y; SRY TESTIS-DETERMINING FACTOR; TDF;; TESTIS-DETERMINING FACTOR ON Y; TDY Asterisk 480100 TESTIS-SPECIFIC PROTEIN, Y-LINKED, 1; TSPY1 TSPY Caret 488000 MOVED TO 475000 NULL 489000 UBIQUITIN-ACTIVATING ENZYME, Y-LINKED UBE1Y Asterisk 489500 XG REGULATOR; XGR XG AND MIC2 EXPRESSION ON ERYTHROCYTES Asterisk 490000 ZINC FINGER PROTEIN, Y-LINKED; ZFY Number Sign 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID CARDIOMYOPATHY, INFANTILE XANTHOMATOUS;; CARDIOMYOPATHY, FOCAL LIPID;; CARDIOMYOPATHY, ONCOCYTIC;; FOAMY MYOCARDIAL TRANSFORMATION OF INFANCY Number Sign 500001 LEBER OPTIC ATROPHY AND DYSTONIA LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME Number Sign 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES MITOCHONDRIAL MYOPATHY, LIPID TYPE Number Sign 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL;; INFANTILE BILATERAL STRIATAL NECROSIS, MITOCHONDRIAL Number Sign 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME RETINITIS PIGMENTOSA 8, FORMERLY; RP8, FORMERLY;; RETINITIS PIGMENTOSA 21, FORMERLY; RP21, FORMERLY Number Sign 500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL Number Sign 500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC Number Sign 500007 CYCLIC VOMITING SYNDROME; CVS CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED;; CYCLIC VOMITING SYNDROME-PLUS, INCLUDED;; CVS-PLUS, INCLUDED Number Sign 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL Number Sign 500009 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY;; COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT;; RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT Number Sign 500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET Number Sign 500011 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3; MLASA3 Number Sign 500014 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1; MC1DM1 Number Sign 500015 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1; MC5DM1 Number Sign 502000 AGING Number Sign 502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL Caret 510000 REMOVED FROM DATABASE Number Sign 515000 CHLORAMPHENICOL TOXICITY ANEMIA, CHLORAMPHENICOL-INDUCED CHLORAMPHENICOL RESISTANCE, INCLUDED Asterisk 516000 COMPLEX I, SUBUNIT ND1; MTND1 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1;; NADH DEHYDROGENASE, SUBUNIT 1 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3, INCLUDED; MC1DM3, INCLUDED Asterisk 516001 COMPLEX I, SUBUNIT ND2; MTND2 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND2;; NADH DEHYDROGENASE, SUBUNIT 2 Asterisk 516002 COMPLEX I, SUBUNIT ND3; MTND3 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3;; NADH DEHYDROGENASE, SUBUNIT 3 Asterisk 516003 COMPLEX I, SUBUNIT ND4; MTND4 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4;; NADH DEHYDROGENASE, SUBUNIT 4 Asterisk 516004 COMPLEX I, SUBUNIT ND4L; MTND4L NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4L;; NADH DEHYDROGENASE, SUBUNIT 4L Asterisk 516005 COMPLEX I, SUBUNIT ND5; MTND5 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5;; NADH DEHYDROGENASE, SUBUNIT 5 Asterisk 516006 COMPLEX I, SUBUNIT ND6; MTND6 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6;; NADH DEHYDROGENASE, SUBUNIT 6 Asterisk 516020 CYTOCHROME b OF COMPLEX III; MTCYB COMPLEX III, CYTOCHROME b SUBUNIT;; UBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT Asterisk 516030 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT I; MTCO1 CYTOCHROME c OXIDASE I; CO1; COX1 Asterisk 516040 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT II; MTCO2 CYTOCHROME c OXIDASE II; COII; COX2 Asterisk 516050 CYTOCHROME c OXIDASE III; MTCO3 COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT III; COIII Asterisk 516060 ATP SYNTHASE 6; MTATP6 COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 6; ATP6 Asterisk 516070 ATP SYNTHASE 8; MTATP8 COMPLEX V, ATP SYNTHASE, SUBUNIT ATPase 8; ATP8 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2, INCLUDED; MC5DM2, INCLUDED;; BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO, INCLUDED;; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY, INCLUDED Number Sign 520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED;; BALLINGER-WALLACE SYNDROME;; DIABETES MELLITUS, TYPE II, WITH DEAFNESS;; NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS;; NIDDM WITH DEAFNESS Number Sign 520100 DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY Number Sign 530000 KEARNS-SAYRE SYNDROME; KSS OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHY;; OCULOCRANIOSOMATIC SYNDROME;; OPHTHALMOPLEGIA-PLUS SYNDROME;; MITOCHONDRIAL CYTOPATHY;; OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS;; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY;; CPEO WITH MYOPATHY;; CPEO WITH RAGGED-RED FIBERS Number Sign 535000 LEBER OPTIC ATROPHY LEBER HEREDITARY OPTIC NEUROPATHY; LHON Number Sign 540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS MELAS SYNDROME Number Sign 545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF MERRF SYNDROME Caret 550000 MOVED TO 157640 Number Sign 550500 MYOGLOBINURIA, RECURRENT Caret 550900 MOVED TO 603041 Number Sign 551000 MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM Number Sign 551200 NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL Number Sign 551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA NARP SYNDROME Number Sign 553000 ONCOCYTOMA Caret 555000 MOVED TO 607313 Number Sign 556500 PARKINSON DISEASE, MITOCHONDRIAL Number Sign 557000 PEARSON MARROW-PANCREAS SYNDROME SIDEROBLASTIC ANEMIA WITH MARROW CELL VACUOLIZATION AND EXOCRINE PANCREATIC DYSFUNCTION Number Sign 560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA Asterisk 561000 RIBOSOMAL RNA, MITOCHONDRIAL, 12S; MTRNR1 rRNA, 12S, MITOCHONDRIAL Asterisk 561010 RIBOSOMAL RNA, MITOCHONDRIAL, 16S; MTRNR2 rRNA, 16S, MITOCHONDRIAL HUMANIN, INCLUDED; HN, INCLUDED;; HUMANIN, MITOCHONDRIAL, INCLUDED;; HNM, INCLUDED Number Sign 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED DEAFNESS, STREPTOMYCIN-INDUCED;; STREPTOMYCIN OTOTOXICITY Asterisk 590000 TRANSFER RNA, MITOCHONDRIAL, ALANINE; MTTA tRNA-ALA, MITOCHONDRIAL Asterisk 590005 TRANSFER RNA, MITOCHONDRIAL, ARGININE; MTTR tRNA-ARG, MITOCHONDRIAL Asterisk 590010 TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE; MTTN tRNA-ASN, MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2, INCLUDED; MC1DM2, INCLUDED Asterisk 590015 TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID; MTTD tRNA-ASP, MITOCHONDRIAL Asterisk 590020 TRANSFER RNA, MITOCHONDRIAL, CYSTEINE; MTTC tRNA-CYS, MITOCHONDRIAL Asterisk 590025 TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE tRNA-GLU, MITOCHONDRIAL Asterisk 590030 TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE; MTTQ tRNA-GLN, MITOCHONDRIAL Asterisk 590035 TRANSFER RNA, MITOCHONDRIAL, GLYCINE; MTTG tRNA-GLY, MITOCHONDRIAL Asterisk 590040 TRANSFER RNA, MITOCHONDRIAL, HISTIDINE; MTTH tRNA-HIS, MITOCHONDRIAL Asterisk 590045 TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE; MTTI tRNA-ILE, MITOCHONDRIAL Asterisk 590050 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1; MTTL1 tRNA-LEU, MITOCHONDRIAL, 1 Asterisk 590055 TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2; MTTL2 tRNA-LEU, MITOCHONDRIAL, 2 Asterisk 590060 TRANSFER RNA, MITOCHONDRIAL, LYSINE; MTTK tRNA-LYS, MITOCHONDRIAL Asterisk 590065 TRANSFER RNA, MITOCHONDRIAL, METHIONINE; MTTM tRNA-MET, MITOCHONDRIAL Asterisk 590070 TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF tRNA-PHE, MITOCHONDRIAL Asterisk 590075 TRANSFER RNA, MITOCHONDRIAL, PROLINE; MTTP tRNA-PRO, MITOCHONDRIAL Asterisk 590080 TRANSFER RNA, MITOCHONDRIAL, SERINE, 1; MTTS1 tRNA-SER, MITOCHONDRIAL, 1 Asterisk 590085 TRANSFER RNA, MITOCHONDRIAL, SERINE, 2; MTTS2 tRNA-SER, MITOCHONDRIAL, 2 Asterisk 590090 TRANSFER RNA, MITOCHONDRIAL, THREONINE; MTTT tRNA-THR, MITOCHONDRIAL Asterisk 590095 TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MTTW tRNA-TRP, MITOCHONDRIAL Asterisk 590100 TRANSFER RNA, MITOCHONDRIAL, TYROSINE; MTTY tRNA-TYR, MITOCHONDRIAL Asterisk 590105 TRANSFER RNA, MITOCHONDRIAL, VALINE; MTTV tRNA-VAL, MITOCHONDRIAL Number Sign 598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS, MITOCHONDRIAL FORM;; DIDMOAD SYNDROME, MITOCHONDRIAL FORM NULL 600000 SPONDYLOCAMPTODACTYLY CAMPTODACTYLY WITH CERVICAL PLATYSPONDYLY Number Sign 600001 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; HDCA PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE;; PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD Number Sign 600002 EIKEN SYNDROME EIKEN SKELETAL DYSPLASIA;; BONE MODELING DEFECT OF HANDS AND FEET Asterisk 600003 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-2 SUBUNIT; CACNB2 Ca(V) BETA-2; CAVB2;; MYASTHENIC SYNDROME ANTIGEN B; MYSB;; LAMBERT-EATON MYASTHENIC SYNDROME ANTIGEN Asterisk 600004 EPHRIN RECEPTOR EphA5; EPHA5 HEK7;; EPH HOMOLOGY KINASE 1, RAT, HOMOLOG OF;; EHK1, RAT, HOMOLOG OF;; BSK, MOUSE, HOMOLOG OF;; TYRO4 Asterisk 600005 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, TRANSACTIVATOR; MHC2TA MHC CLASS II TRANSACTIVATOR;; CLASS II TRANSACTIVATOR; C2TA; CIITA Asterisk 600006 REGULATORY FACTOR X, 1; RFX1 Asterisk 600007 FMS-RELATED TYROSINE KINASE 3 LIGAND; FLT3LG FLT3 LIGAND; FL; FLT3L Asterisk 600008 NICOTINAMIDE N-METHYLTRANSFERASE; NNMT Asterisk 600009 INTERFERON-ALPHA-INDUCIBLE PROTEIN 27; IFI27 INTERFERON-STIMULATED GENE 12; ISG12;; ISG12A Asterisk 600010 INSULINOMA-ASSOCIATED 1; INSM1 IA1 Asterisk 600011 EPHRIN RECEPTOR EphB4; EPHB4 HEPATOMA TRANSMEMBRANE KINASE; HTK;; MYK, MOUSE, HOMOLOG OF; MYK1;; TYRO11 Asterisk 600012 UBIQUITIN-CONJUGATING ENZYME E2L 1; UBE2L1 UBIQUITIN-CONJUGATING ENZYME L-UBC; UBCL;; UBC4, S. CEREVISIAE, HOMOLOG OF Asterisk 600013 TRANSCRIPTION FACTOR YY1; YY1 YIN YANG 1 Asterisk 600014 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 2; SMARCA2 SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 2; SNF2L2;; SNF2-LIKE 2;; SNF2/SWI2, YEAST, HOMOLOG OF;; BRM, DROSOPHILA, HOMOLOG OF; BRM Caret 600015 MOVED TO 106165 Asterisk 600016 CONTACTIN 1; CNTN1 Asterisk 600017 SYNDECAN 4; SDC4 SYND4;; RYUDOCAN;; AMPHIGLYCAN Asterisk 600018 OPIOID RECEPTOR, MU-1; OPRM1 OPRM;; MU OPIOID RECEPTOR; MOR;; MOR1 Asterisk 600019 CYTOCHROME b561; CYB561 Asterisk 600020 MAX-INTERACTING PROTEIN 1; MXI1 Asterisk 600021 MAX DIMERIZATION PROTEIN 1; MXD1 MAD1;; BHLHC58 Asterisk 600022 PROSTAGLANDIN I2 RECEPTOR; PTGIR PROSTANOID IP RECEPTOR; PRIPR;; PROSTACYCLIN RECEPTOR Asterisk 600023 CADHERIN 11; CDH11 CADHERIN, OSTEOBLAST;; OB-CADHERIN; CDHOB Asterisk 600024 LAMIN B RECEPTOR; LBR LMN2R Asterisk 600025 KINESIN LIGHT CHAIN 1; KLC1 KINESIN 2; KNS2;; KNS2A;; KLC Asterisk 600026 SYNTROPHIN, BETA-1; SNTB1 SNT2B1;; DYSTROPHIN-ASSOCIATED PROTEIN, BASIC A1; A1B;; DAPA1B Asterisk 600027 SYNTROPHIN, BETA-2; SNTB2 SNT2B2;; SYNTROPHIN-LIKE; SNTL Asterisk 600028 DISTAL-LESS HOMEOBOX 5; DLX5 Asterisk 600029 DISTAL-LESS HOMEOBOX 1; DLX1 Asterisk 600030 DISTAL-LESS HOMEOBOX 6; DLX6 Asterisk 600031 CHITINASE 1; CHIT1 CHITINASE, MACROPHAGE; CHIT;; CHITOTRIOSIDASE;; METHYLUMBELLIFERYL-TETRA-N-ACETYLCHITOTETRAOSIDE HYDROLASE Caret 600032 MOVED TO 182455 Asterisk 600033 TISSUE FACTOR PATHWAY INHIBITOR 2; TFPI2 PLACENTAL PROTEIN 5; PP5;; RETINAL PIGMENT EPITHELIUM CELL FACTOR 1; REF1 Asterisk 600034 EMPTY SPIRACLES, DROSOPHILA, HOMOLOG OF, 1; EMX1 Asterisk 600035 EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF; EMX2 Asterisk 600036 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 1; OTX1 Asterisk 600037 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2; OTX2 Asterisk 600038 MEGAKARYOCTYE-ASSOCIATED TYROSINE KINASE; MATK HEMATOPOIETIC CONSENSUS TYROSINE-LACKING KINASE; HYL;; CSK-TYPE PROTEIN TYROSINE KINASE; CTK Asterisk 600039 BCL2-LIKE 1; BCL2L1 BCL2-RELATED GENE; BCLX BCL2-RELATED PROTEIN, LONG ISOFORM, INCLUDED; BCLXL, INCLUDED;; BCL2-RELATED PROTEIN, SHORT ISOFORM, INCLUDED; BCLXS, INCLUDED Asterisk 600040 BCL2-ASSOCIATED X PROTEIN; BAX Asterisk 600041 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 2; P2RY2 PURINOCEPTOR P2Y2; P2Y2; P2Y2R;; P2U NUCLEOTIDE RECEPTOR; P2UR Asterisk 600042 MELANOCORTIN 5 RECEPTOR; MC5R MC5 RECEPTOR Asterisk 600043 SULFOTRANSFERASE FAMILY 1E, ESTROGEN-PREFERRING, MEMBER 1; SULT1E1 SULFOTRANSFERASE, ESTROGEN-PREFERRING; STE;; ESTROGEN SULFOTRANSFERASE, LIVER; EST ARYL SULFOTRANSFERASE, INCLUDED Asterisk 600044 THROMBOPOIETIN; THPO TPO;; MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE LIGAND;; MPL LIGAND;; MEGAKARYOCYTE COLONY-STIMULATING FACTOR; MKCSF;; MEGAKARYOCYTE GROWTH AND DEVELOPMENT FACTOR; MGDF Asterisk 600045 DNA DAMAGE-BINDING PROTEIN 1; DDB1 DDB, p127 SUBUNIT Asterisk 600046 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 1; ABCA1 ATP-BINDING CASSETTE 1; ABC1;; ATP-BINDING CASSETTE TRANSPORTER 1;; ABC TRANSPORTER 1;; CHOLESTEROL EFFLUX REGULATORY PROTEIN; CERP Asterisk 600047 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2 ATP-BINDING CASSETTE 2; ABC2;; ATP-BINDING CASSETTE TRANSPORTER 2;; ABC TRANSPORTER 2;; KIAA1062 Caret 600048 MOVED TO 114480 Asterisk 600049 MDS1 GENE; MDS1 MDS1/AML1 FUSION GENE, INCLUDED Asterisk 600050 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 11; MAP3K11 MIXED-LINEAGE PROTEIN KINASE 3; MLK3;; PROTEIN-TYROSINE KINASE PTK1; PTK1 Asterisk 600051 EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 15; EPS15 ALL1-FUSED GENE FROM CHROMOSOME 1; AF1P Asterisk 600052 APELIN RECEPTOR; APLNR APJ PUTATIVE RECEPTOR PROTEIN RELATED TO ANGIOTENSIN RECEPTOR; APJR;; ANGIOTENSIN RECEPTOR-LIKE 1; AGTRL1 Asterisk 600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3 CONE PHOTORECEPTOR cGMP-GATED CHANNEL;; CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3 Caret 600054 MOVED TO 300338 Caret 600055 MOVED TO 426000 Caret 600056 MOVED TO 314690 Percent 600057 EXSTROPHY OF BLADDER BLADDER EXSTROPHY AND EPISPADIAS COMPLEX, INCLUDED; BEEC, INCLUDED Asterisk 600058 PROTEIN TYROSINE KINASE TXK; TXK RESTING LYMPHOCYTE KINASE; RLK Number Sign 600059 RETINITIS PIGMENTOSA 13; RP13 Number Sign 600060 DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; NSRD2 Asterisk 600061 RAD23, YEAST, HOMOLOG OF, A; RAD23A HHR23A Asterisk 600062 RAD23, YEAST, HOMOLOG OF, B; RAD23B HHR23B;; HR23B Asterisk 600063 TROVE DOMAIN FAMILY, MEMBER 2; TROVE2 AUTOANTIGEN Ro/SSA, 60-KD; RO60;; SJOGREN SYNDROME ANTIGEN A2; SSA2 Asterisk 600064 KERATIN-ASSOCIATED PROTEIN 11-1; KRTAP11-1 HAIR FOLLICLE-SPECIFIC GENE 1; HACL1 Asterisk 600065 INTEGRIN, BETA-2; ITGB2 LEUKOCYTE CELL ADHESION MOLECULE CD18; CD18 LEUKOCYTE-ASSOCIATED ANTIGENS CD18/11A, CD18/11B, CD18/11C, INCLUDED Asterisk 600066 EPHRIN RECEPTOR EphA6; EPHA6 HEK12;; EPH HOMOLOGY KINASE 2, RAT, HOMOLOG OF;; EHK2, RAT, HOMOLOG OF Asterisk 600067 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B4; UGT2B4 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B4;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B4;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B11, FORMERLY;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B11, FORMERLY; UGT2B11, FORMERLY Asterisk 600068 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7; UGT2B7 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B7;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B7;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B9;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B9; UGT2B9 Asterisk 600069 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15; UGT2B15 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B15;; URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B8;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B8; UGT2B8 Asterisk 600070 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B10; UGT2B10 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B10;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B10 Caret 600071 MOVED TO 600067 Number Sign 600072 FATAL FAMILIAL INSOMNIA; FFI INSOMNIA, FATAL FAMILIAL Asterisk 600073 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; LRP2 GLYCOPROTEIN 330;; MEGALIN Asterisk 600074 CD24 ANTIGEN; CD24 Asterisk 600075 TATA BOX-BINDING PROTEIN; TBP SCA17 GENE Asterisk 600076 TENSIN 1; TNS1 TENSIN; TNS Caret 600077 MOVED TO 224750 Caret 600078 MOVED TO 300012 Asterisk 600079 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 12; PTPN12 PROTEIN-TYROSINE PHOSPHATASE G1; PTPG1;; PTP-PEST NULL 600080 MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC CML-LIKE SYNDROME, FAMILIAL Number Sign 600081 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B VITAMIN D-DEPENDENT RICKETS, TYPE 1B;; 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;; PSEUDOVITAMIN D3 DEFICIENCY RICKETS DUE TO 25-HYDROXYLASE DEFICIENCY Percent 600082 PROSTATIC HYPERPLASIA, BENIGN; BPH Caret 600083 MOVED TO 300144 NULL 600084 MACROCYTOSIS, FAMILIAL Asterisk 600085 PROTEIN-TYROSINE KINASE SYK; SYK SPLEEN TYROSINE KINASE Asterisk 600086 ALCOHOL DEHYDROGENASE 7; ADH7 ADH, CLASS IV Asterisk 600087 TUFTELIN; TUFT1 Caret 600088 MOVED TO 113810 NULL 600089 PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS Caret 600090 MOVED TO 300013 Caret 600091 MOVED TO 158600 NULL 600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME NULL 600093 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES Caret 600094 MOVED TO 300095 Caret 600095 MOVED TO 246560 NULL 600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME Caret 600097 MOVED TO 300106 Asterisk 600098 RELATED RAS VIRAL ONCOGENE HOMOLOG 2; RRAS2 ONCOGENE RRAS2;; TERATOCARCINOMA ONCOGENE TC21; TC21 Caret 600099 MOVED TO 246530 Caret 600100 MOVED TO 601792 Number Sign 600101 DEAFNESS, AUTOSOMAL DOMINANT 2A; DFNA2A Caret 600102 MOVED TO 300067 Asterisk 600103 SYNAPTOTAGMIN 4; SYT4 Asterisk 600104 SYNAPTOTAGMIN 2; SYT2 Number Sign 600105 RETINITIS PIGMENTOSA 12; RP12 RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM;; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM;; RP WITH OR WITHOUT PPRPE Asterisk 600106 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 40-KD; INPP5A Caret 600107 MOVED TO 300014 Asterisk 600108 MATRIX METALLOPROTEINASE 13; MMP13 COLLAGENASE 3; CLG3 Caret 600109 MOVED TO 602668 Number Sign 600110 STARGARDT DISEASE 3; STGD3 MACULAR DYSTROPHY WITH FLECKS, TYPE 3;; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT Asterisk 600111 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 3; SLC1A3 EXCITATORY AMINO ACID TRANSPORTER 1; EAAT1;; GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER;; GLUTAMATE/ASPARTATE TRANSPORTER, HIGH AFFINITY, SODIUM-DEPENDENT; GLAST1;; GLAST Asterisk 600112 DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1 DNCH1;; DYNEIN, CYTOPLASMIC-LIKE; DNCL; DNECL;; DYNEIN HEAVY POLYPEPTIDE, CYTOPLASMIC; DHC1; DHC1A;; DNCHC1 Caret 600113 MOVED TO 300005 Asterisk 600114 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 3; CCT3 CHAPERONIN CONTAINING TCP1, SUBUNIT 3;; CCT-GAMMA; CCTG;; TCP1 RING COMPLEX, POLYPEPTIDE 5; TRIC5 Caret 600115 MOVED TO 163260 Number Sign 600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE; PDJ;; PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION; EPDF NULL 600117 DYSPHASIA, FAMILIAL DEVELOPMENTAL Number Sign 600118 WARBURG MICRO SYNDROME 1; WARBM1 MICRO SYNDROME Asterisk 600119 SARCOGLYCAN, ALPHA; SGCA ADHALIN; ADL;; DYSTROGLYCAN 2; DAG2;; DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 50-KD;; 50-DAG Caret 600120 MOVED TO 186100 Number Sign 600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY;; ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY;; AGPS DEFICIENCY NULL 600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE VERLOES SYNDROME NULL 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS Asterisk 600124 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2/B1; HNRNPA2B1 HNRPA2B1 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A2, INCLUDED; HNRPA2, INCLUDED;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN B1, INCLUDED; HNRPB1, INCLUDED Caret 600125 MOVED TO 126065 Asterisk 600126 PHOSPHODIESTERASE 4A, cAMP-SPECIFIC; PDE4A DUNCE-LIKE PHOSPHODIESTERASE E2, FORMERLY; DPDE2, FORMERLY Asterisk 600127 PHOSPHODIESTERASE 4B, cAMP-SPECIFIC; PDE4B DUNCE-LIKE PHOSPHODIESTERASE E4, FORMERLY; DPDE4, FORMERLY Asterisk 600128 PHOSPHODIESTERASE 4C, cAMP-SPECIFIC; PDE4C DUNCE-LIKE PHOSPHODIESTERASE E1, FORMERLY; DPDE1, FORMERLY Asterisk 600129 PHOSPHODIESTERASE 4D, cAMP-SPECIFIC; PDE4D DUNCE-LIKE PHOSPHODIESTERASE E3, FORMERLY; DPDE3, FORMERLY Asterisk 600130 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE 1; APOBEC1 BEDP Percent 600131 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1; ECA1 Number Sign 600132 RETINITIS PIGMENTOSA 14; RP14 Asterisk 600133 LAMININ, ALPHA-4; LAMA4 LAMA3, FORMERLY Caret 600134 MOVED TO 605158 Asterisk 600135 CORTEXIN 1; CTXN1 CTXN Asterisk 600136 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 9; MAP3K9 MIXED-LINEAGE KINASE 1; MLK1 Asterisk 600137 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 10; MAP3K10 MIXED-LINEAGE KINASE 2; MLK2;; MKN28 KINASE;; SERINE/THREONINE KINASE, MKN28-DERIVED, NONRECEPTOR-TYPE; MST Number Sign 600138 RETINITIS PIGMENTOSA 11; RP11 Caret 600139 MOVED TO 137800 Asterisk 600140 CREB-BINDING PROTEIN; CREBBP CBP CBP/MOZ FUSION GENE, INCLUDED Asterisk 600141 HEAT-SHOCK 10-KD PROTEIN; HSPE1 CHAPERONIN 10 HOMOLOG;; cpn10 HOMOLOG;; GroES HOMOLOG; GroES;; HSP10 Number Sign 600142 CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL MAEDA SYNDROME;; SUBCORTICAL VASCULAR ENCEPHALOPATHY, PROGRESSIVE;; CEREBROVASCULAR DISEASE WITH THIN SKIN, ALOPECIA, AND DISC DISEASE Number Sign 600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 Asterisk 600144 INOSITOL 1,4,5-TRIPHOSPHATE RECEPTOR, TYPE 2; ITPR2 Number Sign 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE SDAM CAUDAL DYSGENESIS SYNDROME, INCLUDED;; CAUDAL REGRESSION SYNDROME, INCLUDED;; SACRAL AGENESIS, INCLUDED;; SIRENOMELIA, INCLUDED Caret 600146 MOVED TO 270800 Asterisk 600147 MESENCHYME HOMEOBOX 1; MEOX1 MOX1 DIVERGED HOMEOBOX GENE;; MOX1, MOUSE, HOMOLOG OF NULL 600148 GLYCEROL KINASE 2; GK2 GLYCEROL KINASE, TESTICULAR, TYPE A; GKTA;; GLYCEROL KINASE PSEUDOGENE 2; GKP2 NULL 600149 GLYCEROL KINASE 3 PSEUDOGENE; GK3P GLYCEROL KINASE, TESTICULAR, TYPE B; GKTB;; GKP3 Asterisk 600150 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, ALPHA MEMBER 1; KCNMA1 SLOWPOKE, DROSOPHILA, HOMOLOG OF; SLO;; SLO1;; SLO-ALPHA resulting in Number Sign 600151 BARDET-BIEDL SYNDROME 3; BBS3 Asterisk 600152 SEC13-LIKE PROTEIN 1; SEC13L1 SEC13, YEAST, HOMOLOG OF; SEC13;; SEC13-RELATED PROTEIN; SEC13R;; D3S1231E Asterisk 600153 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS F PROTEIN; PIGF Asterisk 600154 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN; PIGH Number Sign 600155 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 Percent 600156 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5 Asterisk 600157 ADAPTOR-RELATED PROTEIN COMPLEX 1, BETA-1 SUBUNIT; AP1B1 ADAPTIN, BETA-1; ADTB1;; ADAPTIN, BETA-PRIME;; BETA-ADAPTIN-MENINGIOMA GENE ON CHROMOSOME 22; BAM22 Caret 600158 MOVED TO 251290 NULL 600159 PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES Asterisk 600160 CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A CDKN2;; CDK4 INHIBITOR;; MULTIPLE TUMOR SUPPRESSOR 1; MTS1;; TP16;; p16(INK4);; p16(INK4A) p14(ARF), INCLUDED;; p12, INCLUDED;; p16-GAMMA, INCLUDED Asterisk 600161 PRADER-WILLI/ANGELMAN REGION RNA 1; PWAR1 PAR1;; D15S227E Asterisk 600162 PRADER-WILLI/ANGELMAN REGION RNA 5; PWAR5 PAR5;; D15S226E Asterisk 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A NAV1.5 Asterisk 600164 GTP-BINDING MITOGEN-INDUCED T-CELL PROTEIN; GEM KINASE-INDUCIBLE RAS-LIKE PROTEIN; KIR Percent 600165 NANOPHTHALMOS 1; NNO1 NANOPHTHALMIA 1;; NANOPHTHALMOS, AUTOSOMAL DOMINANT;; NANOPHTHALMOS WITH HIGH HYPEROPIA AND ANGLE-CLOSURE GLAUCOMA;; MICROPHTHALMOS, SIMPLE, AUTOSOMAL DOMINANT NULL 600166 HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA Asterisk 600167 HISTAMINE RECEPTOR H1; HRH1 BPHS, MOUSE, HOMOLOG OF;; H1R Asterisk 600168 MACROPHAGE STIMULATING 1 RECEPTOR; MST1R RON PROTEIN TYROSINE KINASE; RON;; MACROPHAGE STIMULATING PROTEIN RECEPTOR;; MSP RECEPTOR Asterisk 600169 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE A; MICA Asterisk 600170 AQUAPORIN 3; AQP3 NULL 600171 GONADAL AGENESIS Asterisk 600172 METAL-REGULATORY TRANSCRIPTION FACTOR 1; MTF1 Asterisk 600173 JANUS KINASE 3; JAK3 JANUS KINASE, LEUKOCYTE; JAKL;; LJAK Asterisk 600174 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, ALPHA; PITPNA PITPN Number Sign 600175 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; HMN8 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; DHMN8;; SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE;; SPINAL MUSCULAR ATROPHY, CONGENITAL BENIGN, WITH CONTRACTURES Percent 600176 PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES Caret 600177 MOVED TO 300102 Asterisk 600178 MICROTUBULE-ASSOCIATED PROTEIN 1A; MAP1A MTAP1A Asterisk 600179 GUANYLATE CYCLASE 2D, MEMBRANE; GUCY2D GUC2D;; GUANYLATE CYCLASE 2D, RETINAL;; GUCY2E, MOUSE, HOMOLOG OF;; ROD OUTER SEGMENT MEMBRANE GUANYLATE CYCLASE; ROSGC;; RETGC;; RETGC1 Caret 600180 MOVED TO 108355 Asterisk 600181 LIPOCALIN 2; LCN2 NEUTROPHIL GELATINASE-ASSOCIATED LIPOCALIN; NGAL;; ONCOGENIC LIPOCALIN 24P3;; UTEROCALIN Asterisk 600182 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 5; SLC7A5 MEMBRANE PROTEIN E16; E16; MPE16;; L-TYPE AMINO ACID TRANSPORTER 1; LAT1;; ANTIGEN DEFINED BY MONOCLONAL ANTIBODY 4F2, LIGHT CHAIN; 4F2LC;; D16S469E Asterisk 600183 DUAL-SPECIFICITY PHOSPHATASE 3; DUSP3 VH1-RELATED PHOSPHATASE; VHR;; VACCINIA VIRUS PHOSPHATASE VH1-RELATED Asterisk 600184 CARNITINE ACETYLTRANSFERASE; CRAT CAT1 Asterisk 600185 BRCA2 GENE; BRCA2 FANCD1 GENE; FANCD1 Caret 600186 MOVED TO 300016 Asterisk 600187 EUKARYOTIC TRANSLATION INITIATION FACTOR 5A; EIF5A EIF5A1 Asterisk 600188 AMINO-TERMINAL ENHANCER OF SPLIT; AES GROUCHO-RELATED GENE 5; GRG5 Asterisk 600189 TRANSDUCIN-LIKE ENHANCER OF SPLIT 1; TLE1 ENHANCER OF SPLIT GROUCHO 1; ESG1;; GROUCHO-RELATED GENE 1; GRG1 Asterisk 600190 TRANSDUCIN-LIKE ENHANCER OF SPLIT 3; TLE3 ENHANCER OF SPLIT GROUCHO 3; ESG3 Caret 600191 MOVED TO 300018 Asterisk 600192 SYNOVIAL SARCOMA TRANSLOCATION, CHROMOSOME 18; SS18 SYNOVIAL SARCOMA, TRANSLOCATED TO X CHROMOSOME; SSXT;; SYT SYT/SSX1 FUSION GENE, INCLUDED;; SYT/SSX2 FUSION GENE, INCLUDED Percent 600193 WAARDENBURG SYNDROME, TYPE 2B; WS2B WAARDENBURG SYNDROME, TYPE IIB Asterisk 600194 KERATIN 2, TYPE II; KRT2 K2;; KB2;; KERATIN 2A; KRT2A;; KERATIN 2e; KRT2E Number Sign 600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM VMCM1 Caret 600196 MOVED TO 300019 Asterisk 600197 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN K; MAFK NUCLEAR FACTOR ERYTHROID 2, UBIQUITOUS SUBUNIT; NFE2U;; NFE2, 18-KD SUBUNIT;; p18 Caret 600198 MOVED TO 163260 Caret 600199 MOVED TO 300021 Caret 600200 MOVED TO 133440 Asterisk 600201 AGOUTI SIGNALING PROTEIN; ASIP ASP;; AGOUTI, MOUSE, HOMOLOG OF; AGTI Percent 600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2 READING DISABILITY, SPECIFIC, 2 Caret 600203 MOVED TO 300030 Number Sign 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 Caret 600205 MOVED TO 107748 Asterisk 600206 EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE 8; EPS8 Asterisk 600207 HIPPOCALCIN-LIKE 1; HPCAL1 Caret 600208 MOVED TO 155100 Percent 600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3 Asterisk 600210 RUNT-RELATED TRANSCRIPTION FACTOR 3; RUNX3 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 3; CBFA3;; AML2 GENE; AML2;; PEBP2-ALPHA-C; PEBP2AC Asterisk 600211 RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 1; CBFA1;; AML3 GENE; AML3;; PEBP2-ALPHA-A;; OSF2 Asterisk 600212 FATTY ACID SYNTHASE; FASN Caret 600213 MOVED TO 176310 Asterisk 600214 ADVANCED GLYCOSYLATION END PRODUCT-SPECIFIC RECEPTOR; AGER RECEPTOR FOR ADVANCED GLYCATION END PRODUCTS; RAGE Asterisk 600215 MICROFIBRILLAR-ASSOCIATED PROTEIN 1; MFAP1 Caret 600216 MOVED TO 400002 Caret 600217 MOVED TO 601545 Caret 600218 MOVED TO 600068 Caret 600219 MOVED TO 600069 Asterisk 600220 PHOSPHOLIPASE C, GAMMA-2; PLCG2 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC Asterisk 600221 TEK TYROSINE KINASE, ENDOTHELIAL; TEK PROTEIN RECEPTOR TYROSINE KINASE, EPITHELIAL-SPECIFIC, TIE-2; TIE2 Asterisk 600222 TYROSINE KINASE WITH IMMUNOGLOBULIN AND EGF FACTOR HOMOLOGY DOMAINS 1; TIE1 PROTEIN RECEPTOR TYROSINE KINASE TIE 1;; TIE Percent 600223 SPINOCEREBELLAR ATAXIA 4; SCA4 SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY Number Sign 600224 SPINOCEREBELLAR ATAXIA 5; SCA5 Asterisk 600225 GTP CYCLOHYDROLASE I; GCH1 Caret 600226 MOVED TO 300031 Asterisk 600227 CYCLIN F; CCNF F-BOX ONLY PROTEIN 1; FBXO1; FBX1 Asterisk 600228 SODIUM CHANNEL, NONVOLTAGE-GATED 1, ALPHA SUBUNIT; SCNN1A SCNN1;; SODIUM CHANNEL, EPITHELIAL, ALPHA SUBUNIT; SCNEA Asterisk 600229 SOLUTE CARRIER FAMILY 1 (GLUTAMATE/NEUTRAL AMINO ACID TRANSPORTER), MEMBER 4; SLC1A4 NEUTRAL AMINO ACID TRANSPORTER; ASCT1 Asterisk 600230 PHOSPHOLIPASE C, BETA-3; PLCB3 Number Sign 600231 PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB Asterisk 600232 GAMMA-AMINOBUTYRIC ACID RECEPTOR, BETA-2; GABRB2 GABA-A RECEPTOR, BETA-2 POLYPEPTIDE Asterisk 600233 GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-3; GABRG3 GABA-A RECEPTOR, GAMMA-3 POLYPEPTIDE Asterisk 600234 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2; HMGCS2 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE, MITOCHONDRIAL;; HMG-CoA SYNTHASE, MITOCHONDRIAL;; MITOCHONDRIAL HMG-CoA SYNTHASE Asterisk 600235 SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B Asterisk 600236 CENTROMERIC PROTEIN F; CENPF MITOSIN Asterisk 600237 HISTONE CELL CYCLE REGULATION DEFECTIVE, S. CEREVISIAE, HOMOLOG OF, A; HIRA HIR, S. CEREVISIAE, HOMOLOG OF, A;; TUP-LIKE ENHANCER OF SPLIT 1; TUPLE1;; DIGEORGE SYNDROME CRITICAL REGION GENE 1; DGCR1 Asterisk 600238 TRANSGLUTAMINASE 3; TGM3 TRANSGLUTAMINASE E; TGE Asterisk 600239 G PROTEIN-COUPLED RECEPTOR 1; GPR1 Asterisk 600240 CHEMOKINE (C-C) RECEPTOR 10; CCR10 G PROTEIN-COUPLED RECEPTOR 2; GPR2 Asterisk 600241 G PROTEIN-COUPLED RECEPTOR 3; GPR3 ADENYLATE CYCLASE CONSTITUTIVE ACTIVATOR; ACCA Asterisk 600242 CHEMOKINE, CC MOTIF, RECEPTOR 7; CCR7 EPSTEIN-BARR VIRUS-INDUCED GENE 1; EBI1;; CMKBR7 Asterisk 600243 DEFENDER AGAINST CELL DEATH 1; DAD1 Asterisk 600244 PROGRAMMED CELL DEATH 1; PDCD1 PD1;; CD279 ANTIGEN; CD279 Asterisk 600245 FIBROMODULIN; FMOD Asterisk 600246 ELK4, ETS-DOMAIN PROTEIN; ELK4 SRF ACCESSORY PROTEIN 1; SAP1 Asterisk 600247 ELK3, ETS-DOMAIN PROTEIN; ELK3 SRF ACCESSORY PROTEIN 2; SAP2;; ETS-RELATED PROTEIN; ERP;; NET Caret 600248 MOVED TO 300009 Asterisk 600249 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L1; ALDH1L1 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE; FTHFD;; 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE, CYTOSOLIC;; CYTOSOLIC 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE Asterisk 600250 CHEMOKINE, C MOTIF, LIGAND 1; XCL1 SMALL INDUCIBLE CYTOKINE SUBFAMILY C, MEMBER 1; SCYC1;; SINGLE CYSTEINE MOTIF 1; SCM1;; SINGLE CYSTEINE MOTIF 1A; SCM1A;; LYMPHOTACTIN; LTN Number Sign 600251 FACIAL CLEFTING, OBLIQUE, 1; OBLFC1 OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS NULL 600252 LOWRY-MACLEAN SYNDROME Asterisk 600253 ARYL HYDROCARBON RECEPTOR; AHR Caret 600254 MOVED TO 300032 Caret 600255 MOVED TO 400000 Caret 600256 MOVED TO 123155 Number Sign 600257 CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME Asterisk 600258 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 1; PMS1 MISMATCH REPAIR GENE PMSL1; PMSL1 Asterisk 600259 POSTMEIOTIC SEGREGATION INCREASED, S. CEREVISIAE, 2; PMS2 MISMATCH REPAIR GENE PMSL2; PMSL2 Caret 600260 MOVED TO 300008 Caret 600261 REMOVED FROM DATABASE Asterisk 600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2 CYCLOOXYGENASE 2; COX2;; PROSTAGLANDIN G/H SYNTHASE 2; PGHS2;; PHS II;; GLUCOCORTICOID-REGULATED INFLAMMATORY PROSTAGLANDIN G/H SYNTHASE; GRIPGHS Number Sign 600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO Asterisk 600264 ARGININE VASOPRESSIN RECEPTOR 1B; AVPR1B ANTIDIURETIC HORMONE, RECEPTOR FOR, V1B;; VASOPRESSIN V1B RECEPTOR;; PITUITARY VASOPRESSIN RECEPTOR 3; AVPR3 Caret 600265 MOVED TO 300033 Asterisk 600266 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 1; SLC11A1 NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 1; NRAMP1; NRAMP Asterisk 600267 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 13; PTPN13 PROTEIN-TYROSINE PHOSPHATASE PTPL1;; FAS-ASSOCIATED PROTEIN-TYROSINE PHOSPHATASE 1; FAP1 Number Sign 600268 OCULOECTODERMAL SYNDROME; OES APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS NULL 600269 SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE Asterisk 600270 PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER; PCOLCE PROCOLLAGEN, TYPE I, COOH-TERMINAL PROTEINASE ENHANCER Asterisk 600271 DESMOCOLLIN 3; DSC3 DESMOCOLLIN 4; DSC4 Asterisk 600272 COILIN; COIL COILIN p80; CLN80 Number Sign 600273 POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL;; TUBEROUS SCLEROSIS/POLYCYSTIC KIDNEY DISEASE CONTIGUOUS GENE SYNDROME Number Sign 600274 FRONTOTEMPORAL DEMENTIA; FTD FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS;; FTLD WITH TAU INCLUSIONS;; DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM;; FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM;; FRONTOTEMPORAL LOBE DEMENTIA; FLDEM;; FTDP17;; MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA; MSTD;; DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX; DDPAC;; WILHELMSEN-LYNCH DISEASE; WLD;; PALLIDOPONTONIGRAL DEGENERATION; PPND PICK COMPLEX, INCLUDED Asterisk 600275 NOTCH RECEPTOR 2; NOTCH2 NOTCH, DROSOPHILA, HOMOLOG OF, 2 Asterisk 600276 NOTCH RECEPTOR 3; NOTCH3 NOTCH, DROSOPHILA, HOMOLOG OF, 3 Asterisk 600277 INHIBITOR OF DNA BINDING 3; ID3 HEIR1 Asterisk 600278 RAP1, GTPase-ACTIVATING PROTEIN 1; RAP1GA1 GTPase-ACTIVATING PROTEIN, RAP1, 1; RAP1GAP Asterisk 600279 PEROXISOME BIOGENESIS FACTOR 19; PEX19 PEROXISOMAL FARNESYLATED PROTEIN; PXF;; HOUSEKEEPING GENE, 33-KD; HK33;; HOUSEKEEPING GENE 33;; PEROXIN 19;; D1S2223E Asterisk 600280 NUCLEOTIDE-BINDING PROTEIN 1; NUBP1 NBP;; NBP35 Asterisk 600281 HEPATOCYTE NUCLEAR FACTOR 4-ALPHA; HNF4A HNF4-ALPHA;; HEPATOCYTE NUCLEAR FACTOR 4; HNF4;; TRANSCRIPTION FACTOR 14, HEPATIC NUCLEAR FACTOR; TCF14 Asterisk 600282 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 4; GRIK4 KA1 Asterisk 600283 GLUTAMATE RECEPTOR, IONOTROPIC, KAINATE 5; GRIK5 KA2 Asterisk 600284 ELONGATION FACTOR RNA POLYMERASE II; ELL ELEVEN NINETEEN LYSINE-RICH LEUKEMIA GENE Asterisk 600285 EUKARYOTIC TRANSLATION TERMINATION FACTOR 1; ETF1 RELEASE FACTOR 1; RF1;; ERF1 Asterisk 600286 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, ALPHA; PI4KA PIK4CA;; PI4K-ALPHA;; PHOSPHATIDYLINOSITOL 4-KINASE, TYPE III, ALPHA;; PI4KIII-ALPHA Asterisk 600287 GLYCYL-tRNA SYNTHETASE; GARS Asterisk 600288 FORKHEAD BOX A2; FOXA2 HEPATOCYTE NUCLEAR FACTOR 3-BETA; HNF3B Asterisk 600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14 CYTOKINE-SUPPRESSIVE ANTIINFLAMMATORY DRUG-BINDING PROTEIN 1; CSBP1;; CSAID-BINDING PROTEIN 1;; STRESS-ACTIVATED PROTEIN KINASE 2A; SAPK2A;; p38 MAP KINASE; p38;; p38-ALPHA;; MXI2 CYTOKINE-SUPPRESSIVE ANTIINFLAMMATORY DRUG-BINDING PROTEIN 2, INCLUDED; CSBP2, INCLUDED;; CSAID-BINDING PROTEIN 2, INCLUDED Caret 600290 MOVED TO 600289 Asterisk 600291 ADENYLATE CYCLASE 3; ADCY3 ADENYLYL CYCLASE 3;; KIAA0511 Asterisk 600292 ADENYLATE CYCLASE 4; ADCY4 ADENYLYL CYCLASE 4 Asterisk 600293 ADENYLATE CYCLASE 5; ADCY5 ADENYLYL CYCLASE 5 Asterisk 600294 ADENYLATE CYCLASE 6; ADCY6 ADENYLYL CYCLASE 6 Asterisk 600295 NATRIURETIC PEPTIDE PRECURSOR B; NPPB BNP;; NATRIURETIC PEPTIDE, BRAIN TYPE Asterisk 600296 NATRIURETIC PEPTIDE PRECURSOR C; NPPC NATRIURETIC PEPTIDE, TYPE C; CNP Asterisk 600297 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 2; CDX2 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 3; CDX3;; INSULIN-REGULATING TRANSCRIPTION FACTOR CDX3 Asterisk 600298 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, ALPHA; LMX1A LIM HOMEOBOX TRANSCRIPTION FACTOR 1; LMX1;; LMX1.1;; INSULIN-REGULATING TRANSCRIPTION FACTOR LMX1 Asterisk 600299 PERICENTRIOLAR MATERIAL 1; PCM1 PCM1/RET FUSION GENE, INCLUDED Asterisk 600300 SOLUTE CARRIER FAMILY 1 (GLIAL HIGH AFFINITY GLUTAMATE TRANSPORTER), MEMBER 2; SLC1A2 EXCITATORY AMINO ACID TRANSPORTER 2; EAAT2;; GLUTAMATE TRANSPORTER 1; GLT1 EAAT2b, INCLUDED;; GLT1A, INCLUDED;; GLT1B, INCLUDED Asterisk 600301 ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB SBCAD;; 2-METHYLBUTYRYL-CoA DEHYDROGENASE NULL 600302 FRYNS MACROCEPHALY MACROCEPHALY WITH SPASTIC PARAPLEGIA AND DISTINCTIVE CRANIOFACIAL APPEARANCE Asterisk 600303 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RAPGEF1 GUANINE NUCLEOTIDE-RELEASING FACTOR 2; GRF2;; CRK SH3-BINDING GNRP; C3G Caret 600304 MOVED TO 170400 Asterisk 600305 ENOYL-CoA DELTA ISOMERASE 1; ECI1 DODECENOYL-CoA DELTA ISOMERASE; DCI;; 3,2-TRANS-ENOYL-CoA ISOMERASE;; DELTA-3-DELTA-2-ENOYL-CoA ISOMERASE Asterisk 600306 PROTEASOME SUBUNIT, BETA-TYPE, 5; PSMB5 PROTEASOME SUBUNIT X;; PSX LARGE MULTIFUNCTIONAL PROTEASE X; LMPX;; PROTEASOME SUBUNIT BETA-5 Asterisk 600307 PROTEASOME SUBUNIT, BETA-TYPE, 6; PSMB6 PROTEASOME SUBUNIT DELTA;; PROTEASOME SUBUNIT Y;; PSY LARGE MULTIFUNCTIONAL PROTEASE Y; LMPY;; PROTEASOME SUBUNIT BETA-1 Asterisk 600308 AQUAPORIN 4; AQP4 MERCURIAL-INSENSITIVE WATER CHANNEL; MIWC Number Sign 600309 ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3 Asterisk 600310 CARTILAGE OLIGOMERIC MATRIX PROTEIN; COMP THROMBOSPONDIN V; THBS5 Asterisk 600311 GRANZYME M; GZMM LYMPHOCYTE MET-ASE 1;; PROTEASE, SERINE, NATURAL KILLER CELL, MET-ASE Asterisk 600312 NUDIX HYDROLASE 1; NUDT1 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 1;; NUDIX MOTIF 1;; MutT HOMOLOG 1; MTH1;; 8-OXO-7,8-DIHYDROGUANOSINE TRIPHOSPHATASE Caret 600313 MOVED TO 600535 Asterisk 600314 SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN B; SHB SHB ADAPTOR PROTEIN Asterisk 600315 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 4; TNFRSF4 TAX-TRANSCRIPTIONALLY ACTIVATED GLYCOPROTEIN 1 RECEPTOR; TXGP1L;; OX40 ANTIGEN;; LYMPHOID ACTIVATION ANTIGEN ACT35; ACT35;; CD134 Number Sign 600316 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3; NSRD3 Asterisk 600317 TROPOMYOSIN 4; TPM4 Percent 600318 DIABETES MELLITUS, INSULIN-DEPENDENT, 3; IDDM3 INSULIN-DEPENDENT DIABETES MELLITUS 3 Percent 600319 DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4 INSULIN-DEPENDENT DIABETES MELLITUS 4 Number Sign 600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5 INSULIN-DEPENDENT DIABETES MELLITUS 5 Percent 600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7 INSULIN-DEPENDENT DIABETES MELLITUS 7 Asterisk 600322 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 25-KD; SNAP25 SNAP Asterisk 600323 REGULATOR OF G PROTEIN SIGNALING 1; RGS1 IMMEDIATE-EARLY RESPONSE 1, B-CELL SPECIFIC; IER1;; 1R20;; BL34 Asterisk 600324 CHEMOKINE, CXC MOTIF, LIGAND 5; CXCL5 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 5; SCYB5;; NEUTROPHIL-ACTIVATING PEPTIDE ENA-78; ENA78;; LIPOPOLYSACCHARIDE-INDUCED CXC CHEMOKINE; LIX Percent 600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA PSEUDOAMINOPTERIN SYNDROME Asterisk 600326 DEAD/H BOX 6; DDX6 RNA HELICASE, 54-KD; p54;; HELICASE, RNA, NUCLEAR 2; HLR2;; ONCOGENE RCK Asterisk 600327 SYNAPTOTAGMIN 3; SYT3 Asterisk 600328 MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 6; MLLT6 ALL1-FUSED GENE FROM CHROMOSOME 17; AF17 NULL 600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY Caret 600330 MOVED TO 102500 NULL 600331 PARC SYNDROME POIKILODERMA, ALOPECIA, RETROGNATHISM, AND CLEFT PALATE Percent 600332 RIPPLING MUSCLE DISEASE 1; RMD1 NULL 600333 MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA Number Sign 600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD TARDIVE TIBIAL MUSCULAR DYSTROPHY;; UDD MYOPATHY NULL 600335 SUCCINIC ACIDEMIA Asterisk 600336 SOLUTE CARRIER FAMILY 18 (VESICULAR ACETYLCHOLINE), MEMBER 3; SLC18A3 VESICULAR ACETYLCHOLINE TRANSPORTER; VACHT Asterisk 600337 BRADYKININ RECEPTOR B1; BDKRB1 BRADYKININ RECEPTOR 1; BKR1;; B1R Asterisk 600338 ARYLACETAMIDE DEACETYLASE; AADAC DAC Asterisk 600339 HEPATOMA-DERIVED GROWTH FACTOR; HDGF Asterisk 600340 PLASMA MEMBRANE PROTEOLIPID; PLLP PLASMOLIPIN; PMLP;; TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 11; TM4SF11 Asterisk 600341 TYRO3 PROTEIN TYROSINE KINASE; TYRO3 PROTEIN TYROSINE KINASE 3 Asterisk 600342 G PROTEIN-COUPLED RECEPTOR, RETINAL; RGR RPE-RETINAL G PROTEIN-COUPLED RECEPTOR Percent 600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF; PDDP Caret 600344 MOVED TO 300058 Asterisk 600345 BETACELLULIN; BTC Asterisk 600346 POLYCOMB GROUP RING FINGER PROTEIN 2; PCGF2 MEL18;; ZINC FINGER PROTEIN 144; ZNF144 Asterisk 600347 BREVICAN; BCAN BRAIN-ENRICHED HYALURONAN-BINDING; BEHAB; CHONDROITIN SULFATE PROTEOGLYCAN 7; CSPG7 Number Sign 600348 BAND HETEROTOPIA; BH Asterisk 600349 INHIBITOR OF DNA BINDING 1; ID1 INHIBITOR OF DIFFERENTIATION 1 Caret 600350 MOVED TO 300034 NULL 600351 ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY Caret 600352 MOVED TO 112205 Asterisk 600353 S100 CALCIUM-BINDING PROTEIN A7; S100A7 PSORIASIN; PSOR1 Asterisk 600354 SURVIVAL OF MOTOR NEURON 1; SMN1 SURVIVAL OF MOTOR NEURON, TELOMERIC COPY; SMNT;; SMN;; T-BCD541 Asterisk 600355 NEURONAL APOPTOSIS INHIBITORY PROTEIN; NAIP BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 1; BIRC1 NULL 600356 PACHYDERMODACTYLY, FAMILIAL Asterisk 600357 RIBOSOMAL PROTEIN S8; RPS8 Asterisk 600358 GUANINE MONOPHOSPHATE SYNTHETASE; GMPS GMP SYNTHETASE GMPS/MLL FUSION GENE, INCLUDED Asterisk 600359 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1 RENAL OUTER-MEDULLARY POTASSIUM CHANNEL; ROMK; ROMK1;; KIR1.1 Percent 600360 APLASIA CUTIS CONGENITA OF LIMBS, AUTOSOMAL RECESSIVE Percent 600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V HMSN V;; HMSN5;; PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;; CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;; CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT;; CMT WITH PYRAMIDAL FEATURES Asterisk 600362 FLIGHTLESS I, DROSOPHILA, HOMOLOG OF; FLII FLI Number Sign 600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 3; FSP3 Asterisk 600364 GUANYLATE CYCLASE ACTIVATOR 1A; GUCA1A GUANYLATE CYCLASE-ACTIVATING PROTEIN, PHOTORECEPTOR 1; GCAP1;; GUANYLIN 1, RETINA; GUCA1 Asterisk 600365 ACTIVE BCR-RELATED GENE; ABR Asterisk 600366 ISL LIM HOMEOBOX 1; ISL1 ISL1 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN;; ISLET1 Asterisk 600367 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 3, 77-KD; CSTF3 CSTF, 77-KD SUBUNIT; CSTF77 Caret 600368 MOVED TO 300907 Asterisk 600369 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 1, 50-KD; CSTF1 Asterisk 600370 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 3; SLC25A3 PHOSPHATE CARRIER, MITOCHONDRIAL; PHC Caret 600371 MOVED TO 142695 Asterisk 600372 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 1; NEDD1 Number Sign 600373 CODAS SYNDROME CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME Asterisk 600374 BBS4 GENE; BBS4 Asterisk 600375 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; XRCC2 Number Sign 600376 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED, INCLUDED Asterisk 600377 GALANIN RECEPTOR 1; GALR1 GALNR; GALNR1;; GALANIN RECEPTOR 1, BRAIN Asterisk 600378 INNER MEMBRANE PROTEIN, MITOCHONDRIAL; IMMT MITOFILIN;; HEART MUSCLE PROTEIN; HMP;; MITOCHONDRIAL INNER MEMBRANE ORGANIZING SYSTEM PROTEIN 2; MINOS2;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 60-KD SUBUNIT; MIC60;; MICOS COMPLEX, 60-KD SUBUNIT Asterisk 600379 MYELIN TRANSCRIPTION FACTOR 1; MYT1 PROTEOLIPID PROTEIN-BINDING PROTEIN; PLPB1 Asterisk 600380 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 2; NR1H2 UBIQUITOUSLY EXPRESSED NUCLEAR RECEPTOR; UNR;; NER;; LX RECEPTOR BETA; LXRB Asterisk 600381 KINECTIN; KTN1 CG1 ANTIGEN; CG1 Asterisk 600382 MYC PROMOTER-BINDING PROTEIN IRLB Number Sign 600383 MESOMELIA-SYNOSTOSES SYNDROME CHROMOSOME 8q13 DELETION SYNDROME;; MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE;; MESOMELIC DYSPLASIA, SYNDROMIC Percent 600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV Asterisk 600385 ADENYLATE CYCLASE 7; ADCY7 ADENYLYL CYCLASE 7 Asterisk 600386 INHIBITOR OF DNA BINDING 2; ID2 INHIBITOR OF DIFFERENTIATION 2 Asterisk 600387 BONE MARROW STROMAL CELL ANTIGEN 1; BST1 CD157 Asterisk 600388 MEPRIN, ALPHA SUBUNIT; MEP1A Asterisk 600389 MEPRIN, BETA SUBUNIT; MEP1B Asterisk 600390 UPSTREAM TRANSCRIPTION FACTOR 2, FOS-INTERACTING; USF2 UPSTREAM STIMULATORY FACTOR 2;; FOS-INTERACTING PROTEIN; FIP Asterisk 600391 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 1, CORE 2; GCNT1 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 1 Asterisk 600392 RAD52, YEAST, HOMOLOG OF; RAD52 Asterisk 600393 FLAP STRUCTURE-SPECIFIC ENDONUCLEASE 1; FEN1 MATURATION FACTOR 1; MF1 Caret 600394 MOVED TO 300036 Asterisk 600395 GLYPICAN 1; GPC1 Asterisk 600396 DEAH BOX POLYPEPTIDE 8; DHX8 DEAD/H BOX 8; DDX8;; PRP22, S. CEREVISIAE, HOMOLOG OF;; RNA HELICASE 1; HRH1 Asterisk 600397 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 1; KCNB1 KV2.1 Asterisk 600398 ZINC FINGER PROTEIN 160; ZNF160 Percent 600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS Asterisk 600400 PROLYL ENDOPEPTIDASE; PREP PROLYL OLIGOPEPTIDASE Caret 600401 MOVED TO 600247 Caret 600402 MOVED TO 300035 Asterisk 600403 FIBROBLAST ACTIVATION PROTEIN, ALPHA; FAP FAPA;; SEPRASE Asterisk 600404 REPLICATION FACTOR C, SUBUNIT 2; RFC2 RFC, 40-KD SUBUNIT;; RFC4, YEAST, HOMOLOG OF Asterisk 600405 REPLICATION FACTOR C, SUBUNIT 3; RFC3 RFC, 38-KD SUBUNIT;; RFC5, YEAST, HOMOLOG OF Caret 600406 MOVED TO 102577 Asterisk 600407 REPLICATION FACTOR C, SUBUNIT 5; RFC5 RFC, 36.5-KD SUBUNIT;; RFC3, YEAST, HOMOLOG OF Asterisk 600408 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 1; DDR1 NEUROEPITHELIAL TYROSINE KINASE; NEP;; RECEPTOR TYROSINE KINASE NEP;; EPITHELIAL DISCOIDIN DOMAIN RECEPTOR 1; EDDR1;; EPITHELIAL-SPECIFIC RECEPTOR KINASE;; NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 4; NTRK4;; TYROSINE KINASE RECEPTOR E; TRKE;; PTK3, MOUSE, HOMOLOG OF;; DISCOIDIN DOMAIN RECEPTOR; DDR;; CELL ADHESION KINASE; CAK;; RECEPTOR TYROSINE KINASE 6; RTK6 Asterisk 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD NUCLEAR HORMONE RECEPTOR 1; NUC1;; NUCI GENE; NUCI;; PPAR-BETA; PPARB Asterisk 600410 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 6; TNFAIP6 TUMOR NECROSIS FACTOR-STIMULATED GENE 6; TSG6 Asterisk 600411 GUANYLATE-BINDING PROTEIN 1, INTERFERON-INDUCIBLE, 67-KD; GBP1 Asterisk 600412 GUANYLATE-BINDING PROTEIN 2, INTERFERON-INDUCIBLE; GBP2 GUANYLATE-BINDING PROTEIN 1, MOUSE, HOMOLOG OF; GBP1 Asterisk 600413 GUANYLATE-BINDING PROTEIN 3; GBP3 Asterisk 600414 PEROXISOME BIOGENESIS FACTOR 5; PEX5 PEROXISOME RECEPTOR 1; PXR1;; PEROXIN 5;; PTS1 RECEPTOR; PTS1R Asterisk 600415 TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA TTP1;; ALPHA-TOCOPHEROL TRANSFER PROTEIN; ATTP;; ALPHA-TTP NULL 600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL Asterisk 600417 5-PRIME-NUCLEOTIDASE, CYTOSOLIC II; NT5C2 NUCLEOTIDASE, 5-PRIME, CYTOSOLIC II;; NUCLEOTIDASE, 5-PRIME, TYPE B; NT5B;; PURINE 5-PRIME-NUCLEOTIDASE; PNT5 Asterisk 600418 AMPHIPHYSIN; AMPH AMPHIPHYSIN I NULL 600419 ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS Caret 600420 MOVED TO 300039 Asterisk 600421 GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3 Asterisk 600422 FATTY ACID-BINDING PROTEIN 6; FABP6 FATTY ACID-BINDING PROTEIN, ILEAL;; ILEAL LIPID-BINDING PROTEIN; ILLBP; ILBP;; GASTROTROPIN;; INTESTINAL BILE ACID-BINDING PROTEIN; IBABP Asterisk 600423 ENDOTHELIN-CONVERTING ENZYME 1; ECE1 ECE Asterisk 600424 SOLUTE CARRIER FAMILY 19 (FOLATE TRANSPORTER), MEMBER 1; SLC19A1 FOLATE TRANSPORTER; FOLT;; REDUCED FOLATE CARRIER 1; RFC1;; INTESTINAL FOLATE CARRIER 1; IFC1 Caret 600425 MOVED TO 189902 Asterisk 600426 E2F TRANSCRIPTION FACTOR 2; E2F2 Asterisk 600427 E2F TRANSCRIPTION FACTOR 3; E2F3 Asterisk 600428 VAV2 ONCOGENE; VAV2 ONCOGENE VAV2 Asterisk 600429 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 2, I-BRANCHING ENZYME; GCNT2 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 2;; DEVELOPMENTAL I ANTIGEN;; I-BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE; IGNT Number Sign 600430 CHROMOSOME 2q37 DELETION SYNDROME ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROME;; BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR Asterisk 600431 CYCLIN-DEPENDENT KINASE INHIBITOR 2B; CDKN2B MULTIPLE TUMOR SUPPRESSOR 2;; MTS2;; p15(INK4B);; TP15;; CDK4B INHIBITOR Asterisk 600432 PRECEREBELLIN 1; CBLN1 PRECEREBELLIN;; CEREBELLIN PRECURSOR CEREBELLIN, INCLUDED Asterisk 600433 PRECEREBELLIN 2; CBLN2 Asterisk 600434 FATTY ACID-BINDING PROTEIN 4; FABP4 FATTY ACID-BINDING PROTEIN, ADIPOCYTE;; ADIPOCYTE PROTEIN AP2 Asterisk 600435 CARDIOTROPHIN 1; CTF1 CT1 Asterisk 600436 GLUTATHIONE S-TRANSFERASE, THETA-1; GSTT1 Asterisk 600437 GLUTATHIONE S-TRANSFERASE, THETA-2; GSTT2 Asterisk 600438 TRANSCRIPTION FACTOR A, MITOCHONDRIAL; TFAM TCF6;; TRANSCRIPTION FACTOR 6-LIKE 2; TCF6L2 TRANSCRIPTION FACTOR 6-LIKE 1, INCLUDED; TCF6L1, INCLUDED;; TRANSCRIPTION FACTOR 6-LIKE 3, INCLUDED; TCF6L3, INCLUDED;; MITOCHONDRIAL TRANSCRIPTION FACTOR 1, INCLUDED; MTTF1, INCLUDED Asterisk 600439 SINGLE-STRANDED DNA-BINDING PROTEIN 1; SSBP1 SSBP;; SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT B1; SOSSB1;; SOSS COMPLEX, SUBUNIT B1 Asterisk 600440 ENDONUCLEASE G, MITOCHONDRIAL; ENDOG Asterisk 600441 GROWTH ARREST-SPECIFIC 6; GAS6 AXL RECEPTOR TYROSINE KINASE LIGAND; AXLLG;; AXL STIMULATORY FACTOR; AXSF Asterisk 600442 AQUAPORIN 5; AQP5 Asterisk 600443 GLUTAREDOXIN; GLRX GRX;; THIOLTRANSFERASE Asterisk 600444 SOLUTE CARRIER FAMILY 5 (INOSITOL TRANSPORTER), MEMBER 3; SLC5A3 SODIUM/MYOINOSITOL COTRANSPORTER;; SMIT Asterisk 600445 ADENOSINE A3 RECEPTOR; ADORA3 A3 ADENOSINE RECEPTOR; A3AR Asterisk 600446 ADENOSINE A2B RECEPTOR; ADORA2B A2BR Asterisk 600447 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 12; MAP3K12 ZIPPER PROTEIN KINASE; ZPK;; DUAL LEUCINE ZIPPER KINASE; DLK;; PROTEIN KINASE MUK Asterisk 600448 PROTEIN KINASE C, THETA; PRKCQ Asterisk 600449 ALDO-KETO REDUCTASE FAMILY 1, MEMBER 1; AKR1C1 DIHYDRODIOL DEHYDROGENASE, TYPE I; DDH1; DD1;; ALDO-KETO REDUCTASE C; HAKRC Asterisk 600450 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C2; AKR1C2 DIHYDRODIOL DEHYDROGENASE, TYPE II; DDH2; DD2;; ALDO-KETO REDUCTASE D; HAKRD;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE, TYPE III Asterisk 600451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C4; AKR1C4 CHLORDECONE REDUCTASE; CHDR; CDR;; ALDO-KETO REDUCTASE A; HAKRA;; DIHYDRODIOL DEHYDROGENASE 4; DD4;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE, TYPE I Caret 600452 MOVED TO 600408 Asterisk 600453 TRIPARTITE MOTIF-CONTAINING PROTEIN 25; TRIM25 ZINC FINGER PROTEIN 147; ZNF147;; ESTROGEN-RESPONSIVE FINGER PROTEIN; EFP Asterisk 600454 RIBOSOMAL PROTEIN S3; RPS3 Asterisk 600455 RNA, U15A SMALL NUCLEOLAR; RNU15A snoRNA, U15A Asterisk 600456 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 2; NTRK2 TYROSINE KINASE RECEPTOR B; TRKB NULL 600457 HYPERTRICHOSIS, ANTERIOR CERVICAL NULL 600458 ADENOMYOSIS NULL 600459 ARTERIAL DISSECTION WITH LENTIGINOSIS NULL 600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY CCGE;; ACROCARDIOFACIAL SYNDROME; ACFS NULL 600461 HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES Number Sign 600462 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1; MLASA1 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Asterisk 600463 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A3; ALDH1A3 ALDEHYDE DEHYDROGENASE 6; ALDH6;; ACETALDEHYDE DEHYDROGENASE 6;; RETINALDEHYDE DEHYDROGENASE 3; RALDH3 Asterisk 600464 ADP-RIBOSYLATION FACTOR 6; ARF6 Asterisk 600465 ANKYRIN 3; ANK3 ANKYRIN-G Asterisk 600466 ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B1; ALDH3B1 ALDEHYDE DEHYDROGENASE 7; ALDH7;; ACETALDEHYDE DEHYDROGENASE 7 Percent 600467 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4 MHS4 Caret 600468 MOVED TO 300011 Asterisk 600469 NUCLEAR CAP-BINDING PROTEIN 1; NCBP1 NUCLEAR CAP-BINDING PROTEIN, 80-KD;; NCBP;; CBP80 Asterisk 600470 ZIC FAMILY, MEMBER 1; ZIC1 ZINC FINGER PROTEIN OF CEREBELLUM 1;; ZIC Asterisk 600471 DEFENSIN, ALPHA, 6; DEFA6 DEFENSIN 6; DEF6 Asterisk 600472 DEFENSIN, ALPHA, 5; DEFA5 DEFENSIN 5; DEF5; HD5 Asterisk 600473 PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA PUR-ALPHA Asterisk 600474 CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP CATIONIC ANTIMICROBIAL PROTEIN, 18-KD; CAP18;; CRAMP, MOUSE, HOMOLOG OF; CRAMP LL37, INCLUDED;; PEPTIDE ANTIBIOTIC, PR-39, PORCINE, HOMOLOG OF, INCLUDED; FALL39, INCLUDED Asterisk 600475 TAF10 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 30-KD; TAF10 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2H; TAF2H;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 30-KD; TAFII30;; TAF2A, FORMERLY Caret 600476 MOVED TO 300040 Asterisk 600477 SOLUTE CARRIER FAMILY 9, MEMBER 5; SLC9A5 SODIUM/HYDROGEN EXCHANGER 5; NHE5 Asterisk 600478 SUPERKILLER VIRALICIDIC ACTIVITY 2, S. CEREVISIAE, HOMOLOG-LIKE; SKIV2L SKI2, S. CEREVISIAE, HOMOLOG OF; SKI2;; SKI2W Caret 600479 MOVED TO 120324 Asterisk 600480 TRANSCRIPTION FACTOR 12; TCF12 HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 4; HTF4 TCF12/NR4A3 FUSION GENE, INCLUDED Asterisk 600481 STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2 STEROL REGULATORY ELEMENT-BINDING PROTEIN 2; SREBP2 Caret 600482 MOVED TO 300116 Asterisk 600483 FIBROBLAST GROWTH FACTOR 8; FGF8 ANDROGEN-INDUCED GROWTH FACTOR; AIGF Caret 600484 MOVED TO 300002 Caret 600485 MOVED TO 300003 Caret 600486 MOVED TO 300076 Asterisk 600487 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 4; PCSK4 PROPROTEIN CONVERTASE PC4 Asterisk 600488 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5 PROPROTEIN CONVERTASE PC5 Asterisk 600489 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 1; NFATC1 NFAT TRANSCRIPTION COMPLEX, CYTOSOLIC COMPONENT; NFATC;; NFAT2 Asterisk 600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 2; NFATC2 NFAT1;; NUCLEAR FACTOR OF ACTIVATED T CELLS, PREEXISTING COMPONENT; NFATP;; NFAT TRANSCRIPTION COMPLEX, PREEXISTING COMPONENT Asterisk 600491 MICROFIBRILLAR-ASSOCIATED PROTEIN 3; MFAP3 Asterisk 600492 NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2 NFE2-RELATED FACTOR 2; NRF2;; NFE2-RELATED TRANSCRIPTION FACTOR 2 Asterisk 600493 ADHESION G PROTEIN-COUPLED RECEPTOR E1; ADGRE1 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 1; EMR1 Asterisk 600494 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2 POUF3;; BRN2, MOUSE, HOMOLOG OF; BRN2;; OCTAMER BINDING TRANSCRIPTION FACTOR 7; OCT7;; N-OCT-3 GENE Asterisk 600495 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G; EIF4G;; EIF4-GAMMA;; EIF4GI Number Sign 600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 MODY, TYPE 3 Asterisk 600497 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2 AMP-ACTIVATED PROTEIN KINASE, CATALYTIC, ALPHA-2;; AMPK-ALPHA-2 Caret 600498 MOVED TO 313470 Caret 600499 REMOVED FROM DATABASE Caret 600500 MOVED TO 600758 Number Sign 600501 ABCD SYNDROME; ABCDS ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS Asterisk 600502 IMMUNOGLOBULIN MU-BINDING PROTEIN 2; IGHMBP2 CARDIAC TRANSCRIPTION FACTOR 1; CATF1;; SMUBP2 Asterisk 600503 SUB1, S. CEREVISIAE, HOMOLOG OF; SUB1 ACTIVATED RNA POLYMERASE II TRANSCRIPTION COFACTOR 4; PC4;; p15 Asterisk 600504 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 4; KCNJ4 HIPPOCAMPAL INWARD RECTIFIER POTASSIUM CHANNEL; HIR; HRK1 Asterisk 600505 CASEIN KINASE I, ALPHA-1; CSNK1A1 CK1-ALPHA;; CK1 Caret 600506 MOVED TO 604286 Caret 600507 MOVED TO 601177 Asterisk 600508 NCK ADAPTOR PROTEIN 1; NCK1 NCK;; NCK-ALPHA;; MELANOMA NCK PROTEIN Asterisk 600509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8 SULFONYLUREA RECEPTOR; SUR;; SUR1;; SULFONYLUREA RECEPTOR, BETA CELL HIGH AFFINITY Percent 600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME; GPDS1 GLAUCOMA, PIGMENT-DISPERSION TYPE;; PIGMENT DISPERSION SYNDROME; PDS Percent 600511 SCHIZOPHRENIA 3; SCZD3 SCHIZOPHRENIA 3 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED Number Sign 600512 EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE;; EPILEPSY, PARTIAL, WITH AUDITORY FEATURES; ADPEAF Number Sign 600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1 Asterisk 600514 REELIN; RELN RL Asterisk 600515 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12 PURINORECEPTOR P2Y12; P2Y12;; PLATELET ADP RECEPTOR Asterisk 600516 BCL2 ANTAGONIST KILLER 1; BAK1 BAK;; BCL2L7 BAK-LIKE, INCLUDED Asterisk 600517 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 3; SERPINB3 SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1 Asterisk 600518 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 4; SERPINB4 SQUAMOUS CELL CARCINOMA ANTIGEN 2; SCCA2;; LEUPIN Asterisk 600519 GENERAL TRANSCRIPTION FACTOR IIA, GAMMA SUBUNIT; GTF2A2 TRANSCRIPTION FACTOR IIA, 2; TF2A2 Asterisk 600520 GENERAL TRANSCRIPTION FACTOR IIA, ALPHA/BETA SUBUNITS; GTF2A1 TRANSCRIPTION FACTOR IIA, 1; TF2A1 Asterisk 600521 MANNAN-BINDING LECTIN SERINE PROTEASE 1; MASP1 MASP;; COMPLEMENT-ACTIVATING COMPONENT OF Ra-REACTIVE FACTOR; CRARF Asterisk 600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A PHOSPHOLIPASE A2, CYTOSOLIC, CALCIUM-DEPENDENT, ALPHA;; CPLA2-ALPHA Asterisk 600523 SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 2; SLC11A2 NATURAL RESISTANCE-ASSOCIATED MACROPHAGE PROTEIN 2; NRAMP2;; DIVALENT CATION TRANSPORTER 1; DCT1;; DIVALENT METAL TRANSPORTER 1; DMT1 Asterisk 600524 RYK RECEPTOR-LIKE TYROSINE KINASE; RYK RYK1 Asterisk 600525 DISTAL-LESS HOMEOBOX 3; DLX3 Asterisk 600526 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 2; MARK2 ELKL MOTIF KINASE; EMK1;; PAR1, C. ELEGANS, HOMOLOG OF, B; PAR1B Asterisk 600527 EPHRIN B2; EFNB2 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 5; EPLG5;; LIGAND OF EPH-RELATED KINASE 5; LERK5;; HTK LIGAND; HTKL Asterisk 600528 CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A CPT IA;; CPT I, LIVER;; CPT1 Asterisk 600529 AU-SPECIFIC RNA-BINDING PROTEIN; AUH 3-METHYLGLUTACONYL-CoA HYDRATASE Asterisk 600530 SOLUTE CARRIER FAMILY 9, MEMBER 2; SLC9A2 SODIUM/HYDROGEN EXCHANGER 2; NHE2 Asterisk 600531 SOLUTE CARRIER FAMILY 9, MEMBER 4; SLC9A4 SODIUM/HYDROGEN EXCHANGER 4; NHE4 Asterisk 600532 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2; NDUFV2 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 24-KD SUBUNIT Asterisk 600533 VANG-LIKE 2; VANGL2 LOOP-TAIL-ASSOCIATED PROTEIN; LTAP;; LOOP-TAIL PROTEIN 1; LPP1;; VAN GOGH, DROSOPHILA, HOMOLOG OF, 2;; STRABISMUS, DROSOPHILA, HOMOLOG OF, 1; STBM1; STB1;; LOOP-TAIL, MOUSE, HOMOLOG OF;; KIAA1215 Asterisk 600534 BONE MARROW STROMAL CELL ANTIGEN 2; BST2 TETHERIN;; CD317 ANTIGEN; CD317 Asterisk 600535 MESENCHYME HOMEOBOX 2; MEOX2 MOX2 DIVERGED HOMEOBOX GENE;; MOX2, MOUSE, HOMOLOG OF;; GROWTH ARREST-SPECIFIC HOMEOBOX; GAX Asterisk 600536 INTEGRIN, ALPHA-7; ITGA7 Asterisk 600537 RECQ PROTEIN-LIKE; RECQL DNA HELICASE, RECQ-LIKE, TYPE 1; RECQL1 Asterisk 600538 PEROXIREDOXIN 2; PRDX2 PRX2;; PEROXIDE REDUCTASE, THIOREDOXIN-DEPENDENT; TDPX1; TPX1;; NATURAL KILLER-ENHANCING FACTOR B; NKEFB Asterisk 600539 PROTEIN KINASE C, IOTA FORM; PRKCI PROTEIN KINASE C, LAMBDA/IOTA;; PKC-LAMBDA/IOTA;; PRKC-LAMBDA/IOTA Asterisk 600540 TRANSCRIPTION FACTOR Sp4; SP4 HF1B Asterisk 600541 ETS VARIANT GENE 1; ETV1 ETS TRANSLOCATION VARIANT 1;; ER81, MOUSE, HOMOLOG OF ETV1/TMPRSS2 FUSION GENE, INCLUDED;; ETV1/EWS FUSION GENE, INCLUDED Asterisk 600542 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3 CHONDROSARCOMA, MYXOID EXTRASKELETAL, FUSED TO EWS; CSMF;; CHN;; NEURON-DERIVED ORPHAN RECEPTOR 1; NOR1;; MITOGEN-INDUCED NUCLEAR ORPHAN RECEPTOR; MINOR NR4A3/EWS FUSION GENE, INCLUDED;; NR4A3/RBP56 FUSION GENE, INCLUDED;; NR4A3/TCF12 FUSION GENE, INCLUDED Asterisk 600543 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4 ONCOGENE ERBB4;; TYROSINE KINASE-TYPE CELL SURFACE RECEPTOR HER4 Asterisk 600544 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 1; SLC15A1 HYDROGEN ION/PEPTIDE COTRANSPORTER, INTESTINAL; HPEPT1 Caret 600545 MOVED TO 300240 NULL 600546 INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY Asterisk 600547 CYSTEINE CONJUGATE BETA-LYASE 1; CCBL1 BETA-LYASE, KIDNEY;; KYNURENINE AMINOTRANSFERASE I; KAT1 Asterisk 600548 HEAT-SHOCK 70-KD PROTEIN 9; HSPA9 HSPA9B;; MORTALIN;; MORTALIN 2; MOT2;; MORTALIN, PERINUCLEAR;; GLUCOSE-REGULATED PROTEIN, 75-KD; GRP75 Asterisk 600549 IK CYTOKINE, DOWNREGULATOR OF HLA II; IK CYTOKINE IK;; IK FACTOR;; RED Asterisk 600550 CATHEPSIN O; CTSO Asterisk 600551 G PROTEIN-COUPLED RECEPTOR 4; GPR4 Asterisk 600552 CHEMOKINE, C MOTIF, RECEPTOR 1; XCR1 CCXCR1;; G PROTEIN-COUPLED RECEPTOR 5; GPR5;; XC CHEMOKINE RECEPTOR 1; XCR1;; LYMPHOTACTIN RECEPTOR Asterisk 600553 G PROTEIN-COUPLED RECEPTOR 6; GPR6 Asterisk 600554 INTERLEUKIN 15; IL15 Asterisk 600555 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1 Asterisk 600556 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2 Caret 600557 MOVED TO 102582 Asterisk 600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4 NULL 600559 HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS HEC SYNDROME Asterisk 600560 SHC TRANSFORMING PROTEIN 1; SHC1 SHC PROTEIN A; SHCA p46, INCLUDED;; p52, INCLUDED;; p66, INCLUDED NULL 600561 SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY Asterisk 600562 CADHERIN 12; CDH12 N-CADHERIN 2;; CADHERIN, NEURONAL, 2;; BR-CADHERIN; CDHB Asterisk 600563 PROSTAGLANDIN F RECEPTOR; PTGFR PROSTAGLANDIN RECEPTOR F(2-ALPHA) Asterisk 600564 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4; ITIH4 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN-LIKE, 1; ITIHL1;; INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN-RELATED PROTEIN; IHRP;; PLASMA KALLIKREIN-SENSITIVE GLYCOPROTEIN 120; PK120 Asterisk 600565 NEUREXIN I; NRXN1 Asterisk 600566 NEUREXIN II; NRXN2 Asterisk 600567 NEUREXIN III; NRXN3 Asterisk 600568 NEUROLIGIN 1; NLGN1 NL1 Caret 600569 MOVED TO 300103 Asterisk 600570 CHLORIDE CHANNEL 2; CLCN2 CLC2 Asterisk 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST NEURON-RESTRICTIVE SILENCER FACTOR; NRSF Asterisk 600572 SPLICING FACTOR, SERINE/ARGININE-RICH, 7; SRSF7 SERINE/ARGININE-RICH SPLICING FACTOR 7;; SPLICING FACTOR, ARGININE/SERINE-RICH, 7; SFRS7 Asterisk 600573 TAF7 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 55-KD; TAF7 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2F; TAF2F;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 55-KD; TAFII55 Asterisk 600574 LEUCINE ZIPPER-LIKE TRANSCRIPTIONAL REGULATOR 1; LZTR1 Asterisk 600575 TRANSLIN; TSN RECOMBINATION HOTSPOT-ASSOCIATED FACTOR 1; RCHF1;; TESTIS-BRAIN RNA-BINDING PROTEIN; TBRBP Asterisk 600576 GATA-BINDING PROTEIN 4; GATA4 Asterisk 600577 LIM HOMEOBOX GENE 3; LHX3 LIM3 Asterisk 600578 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY H, MEMBER 3; OR2H3 OLFACTORY RECEPTOR 2; OLFR2 Asterisk 600579 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO GLOMERULAR EPITHELIAL PROTEIN 1; GLEPP1;; PROTEIN TYROSINE PHOSPHATASE PTP-U2; PTPU2 Asterisk 600580 CHLORIDE CHANNEL 3; CLCN3 CLC3 Asterisk 600581 INHIBITOR OF DNA BINDING 4; ID4 IDB4 Asterisk 600582 ASPARTATE BETA-HYDROXYLASE; ASPH ASPARTYL/ASPARAGINYL-BETA-HYDROXYLASE; HAAH;; BAH JUNCTIN, INCLUDED;; JUNCTATE, INCLUDED;; HUMBUG, INCLUDED Asterisk 600583 TEC PROTEIN TYROSINE KINASE; TEC Asterisk 600584 NK2 HOMEOBOX 5; NKX2-5 NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E;; CARDIAC-SPECIFIC HOMEOBOX 1; CSX1;; CSX;; NKX2.5, MOUSE, HOMOLOG OF Asterisk 600585 TRANSGLUTAMINASE 4; TGM4 TRANSGLUTAMINASE P; TGP;; TRANSGLUTAMINASE, PROSTATE Asterisk 600586 EPITHELIAL CELL TRANSFORMING SEQUENCE 2 ONCOGENE; ECT2 ONCOGENE ECT2 Asterisk 600587 POM121/ZP3 FUSION PROTEIN; POMZP3 POMZP3 FUSION PROTEIN Caret 600588 MOVED TO 188025 Asterisk 600589 SERUM RESPONSE FACTOR; SRF C-FOS SERUM RESPONSE ELEMENT-BINDING FACTOR Asterisk 600590 PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, BETA ISOFORM; PPP1CB PROTEIN PHOSPHATASE 1-BETA;; PROTEIN PHOSPHATASE 1, CATALYTIC SUBUNIT, DELTA ISOFORM; PPP1CD;; PROTEIN PHOSPHATASE 1-DELTA Asterisk 600591 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 1; SNAPC1 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 43-KD SUBUNIT; SNAP43;; PSE-BINDING TRANSCRIPTION FACTOR, GAMMA;; PTF-GAMMA Asterisk 600592 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 7; MCM7 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 7;; CDC47, S. CEREVISIAE, HOMOLOG OF; CDC47;; MCM2, FORMERLY Percent 600593 CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA Asterisk 600594 DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2 INTEGRAL MEMBRANE PROTEIN DELETED IN DIGEORGE SYNDROME; IDD Asterisk 600595 INTRAFLAGELLAR TRANSPORT 88, CHLAMYDOMONAS, HOMOLOG OF; IFT88 TG737, MOUSE, HOMOLOG OF; TG737;; POLARIS, MOUSE, HOMOLOG OF;; TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 10; TTC10;; DAF19, C. ELEGANS, HOMOLOG OF; DAF19;; D13S1056E Asterisk 600596 MICROFIBRILLAR-ASSOCIATED PROTEIN 4; MFAP4 Asterisk 600597 PHOSPHOLIPASE C-LIKE 1; PLCL1 PHOSPHOLIPASE C DELETED IN LUNG CARCINOMA; PLCL;; PHOSPHOLIPASE C-RELATED CATALYTICALLY INACTIVE PROTEIN 1; PRIP1 NULL 600598 SETTING-SUN PHENOMENON, FAMILIAL BENIGN Asterisk 600599 KRUPPEL-LIKE FACTOR 1; KLF1 ERYTHROID KRUPPEL-LIKE FACTOR; EKLF Asterisk 600600 EPHRIN RECEPTOR EphB1; EPHB1 NEURONALLY EXPRESSED EPH-RELATED TYROSINE KINASE; NET;; EPH TYROSINE KINASE 2; EPHT2;; HEK6;; ELK Caret 600601 MOVED TO 600289 Caret 600602 MOVED TO 300083 Caret 600603 MOVED TO 300071 Caret 600604 MOVED TO 600376 Asterisk 600605 METAXIN 1; MTX1 MTX;; MTXN Caret 600606 REMOVED FROM DATABASE Asterisk 600607 VACUOLAR PROTEIN SORTING 72, YEAST, HOMOLOG OF; VPS72 TRANSCRIPTION FACTOR-LIKE 1; TCFL1;; TRANSFORMATION SUPPRESSOR GENE YL-1; YL1 Asterisk 600608 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 2; P4HA2 PROLYL 4-HYDROXYLASE, ALPHA-2 SUBUNIT Asterisk 600609 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, ALPHA SUBUNIT; GABPA GABP-ALPHA;; NUCLEAR RESPIRATORY FACTOR 2, ALPHA SUBUNIT; NRF2A;; ADENOVIRUS E4 GENE TRANSCRIPTION FACTOR, 60-KD SUBUNIT;; E4TF1-60 Asterisk 600610 GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT; GABPB GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT 1, INCLUDED; GABPB1, INCLUDED;; GABP-BETA, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, BETA SUBUNIT 1, INCLUDED; NRF2B1, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, BETA SUBUNIT 2, INCLUDED; NRF2B2, INCLUDED;; ADENOVIRUS E4 GENE TRANSCRIPTION FACTOR 1, 53-KD SUBUNIT, INCLUDED;; E4TF1-53, INCLUDED;; GA-BINDING PROTEIN TRANSCRIPTION FACTOR, BETA SUBUNIT 2, INCLUDED; GABPB2, INCLUDED;; GABP-GAMMA, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, GAMMA SUBUNIT 1, INCLUDED; NRF2G1, INCLUDED;; NUCLEAR RESPIRATORY FACTOR 2, GAMMA SUBUNIT 2, INCLUDED; NRF2G2, INCLUDED;; ADENOVIRUS E4 GENE TRANSCRIPTION FACTOR 1, 47-KD SUBUNIT, INCLUDED;; E4TF1-47, INCLUDED Asterisk 600611 FK506-BINDING PROTEIN 4; FKBP4 T-CELL FK506-BINDING PROTEIN, 59-KD; FKBP59; FKBP52 Caret 600612 MOVED TO 300101 Asterisk 600613 NEUROBLASTOMA CANDIDATE REGION, SUPPRESSION OF TUMORIGENICITY 1; NBL1 DIFFERENTIAL SCREENING-SELECTED GENE ABERRANT IN NEUROBLASTOMA; DAN;; D1S1733E;; N03 Asterisk 600614 S100 CALCIUM-BINDING PROTEIN P; S100P Asterisk 600615 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7; LGALS7 GALECTIN 7; GAL7 Asterisk 600616 LUMICAN; LUM LDC Asterisk 600617 STEROIDOGENIC ACUTE REGULATORY PROTEIN; STAR START DOMAIN-CONTAINING PROTEIN 1; STARD1 Asterisk 600618 ETS VARIANT GENE 6; ETV6 TRANSLOCATION, ETS, LEUKEMIA; TEL;; TEL1 ONCOGENE ETV6/PDGFRB FUSION GENE, INCLUDED;; ETV6/MN1 FUSION GENE, INCLUDED;; ETV6/AML1 FUSION GENE, INCLUDED;; ETV6/ARNT FUSION GENE, INCLUDED;; ETV6/MDS2 FUSION GENE, INCLUDED;; ETV6/ABL2 FUSION GENE, INCLUDED;; ETV6/PER1 FUSION GENE, INCLUDED;; ETV6/NTRK3 FUSION GENE, INCLUDED;; ETV6/ACS2 FUSION GENE, INCLUDED;; ETV6/BTL FUSION GENE, INCLUDED;; ETV6/JAK2 FUSION GENE, INCLUDED;; ETV6/RUNX1 FUSION GENE, INCLUDED Caret 600619 MOVED TO 300097 Asterisk 600620 FK506-BINDING PROTEIN 1B; FKBP1B FK506-BINDING PROTEIN 1-LIKE; FKBP1L;; FK506-BINDING PROTEIN, 12.6-KD; FKBP12.6;; CALSTABIN 2 Asterisk 600621 STATHMIN-LIKE 2; STMN2 SUPERIOR CERVICAL GANGLIA, NEURAL SPECIFIC, 10; SCGN10;; SUPERIOR CERVICAL GANGLION 10; SCG10;; NEURONAL GROWTH-ASSOCIATED PROTEIN SCG10 Caret 600622 MOVED TO 300069 Asterisk 600623 CD82 ANTIGEN; CD82 KANGAI 1; KAI1;; PROSTATE CANCER ANTIMETASTASIS GENE KAI1;; LEUKOCYTE SURFACE ANTIGEN R2; SAR2;; SUPPRESSOR OF TUMORIGENICITY 6; ST6;; R2 LEUKOCYTE ANTIGEN Percent 600624 CONE-ROD DYSTROPHY 1; CORD1 CRD1 Number Sign 600625 OROFACIAL CLEFT 11; OFC11 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 CLEFT LIP, CONGENITAL HEALED, INCLUDED;; CONGENITAL HEALED CLEFT LIP, INCLUDED; CHCL, INCLUDED Asterisk 600626 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 3 BINDING PROTEIN; LGALS3BP MAC2-BINDING PROTEIN; MAC2BP;; SERUM PROTEIN 90K; 90K;; L3 ANTIGEN Number Sign 600627 HYPERTRYPTOPHANEMIA; HYPTRP HYPERTRYPTOPHANEMIA, FAMILIAL NULL 600628 LOOSE ANAGEN HAIR SYNDROME Asterisk 600629 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DO BETA; HLA-DOB HLA-DO HISTOCOMPATIBILITY TYPE, BETA CHAIN Number Sign 600630 UV-SENSITIVE SYNDROME 1; UVSS1 Percent 600631 ENURESIS, NOCTURNAL, 1; ENUR1 BEDWETTING Asterisk 600632 OPIOID-BINDING PROTEIN/CELL ADHESION MOLECULE-LIKE; OPCML OPIOID-BINDING CELL ADHESION MOLECULE;; OBCAM;; IGLON1 Asterisk 600633 TREFOIL FACTOR 3; TFF3 INTESTINAL TREFOIL FACTOR; ITF Number Sign 600634 PITUITARY ADENOMA, PROLACTIN-SECRETING PROLACTINOMA, FAMILIAL Asterisk 600635 NK2 HOMEOBOX 1; NKX2-1 THYROID TRANSCRIPTION FACTOR 1; TITF1;; TTF1;; THYROID NUCLEAR FACTOR;; NK2, DROSOPHILA, HOMOLOG OF, A; NKX2A;; NK2.1, MOUSE, HOMOLOG OF;; THYROID-SPECIFIC ENHANCER-BINDING PROTEIN; TEBP Asterisk 600636 CASPASE 3, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP3 PARP CLEAVAGE PROTEASE;; APOPAIN;; CPP32;; YAMA Asterisk 600637 SOLUTE CARRIER FAMILY 1 (HIGH AFFINITY ASPARTATE/GLUTAMATE TRANSPORTER), MEMBER 6; SLC1A6 EXCITATORY AMINO ACID TRANSPORTER 4; EAAT4 Number Sign 600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A FEOM3 LOCUS Asterisk 600639 CASPASE 2, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP2 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 2; NEDD2;; ICE AND CED3 HOMOLOG 1; ICH1 Caret 600640 MOVED TO 311770 Asterisk 600641 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 3; SULT1A3 SULFOTRANSFERASE, MONOAMINE-PREFERRING; STM Asterisk 600642 MYOSIN IG; MYO1G MINOR HISTOCOMPATIBILITY ANTIGEN HA-2; HA2;; HLA-HA2;; D6S207E NULL 600643 CAROLI DISEASE, ISOLATED Asterisk 600644 NECTIN 1; NECTIN1 POLIOVIRUS RECEPTOR-LIKE 1; PVRL1;; HERPESVIRUS ENTRY MEDIATOR C; HVEC;; POLIOVIRUS RECEPTOR-RELATED 1; PVRR1;; PVRR; PRR Caret 600645 MOVED TO 600579 Asterisk 600646 PROTEIN C RECEPTOR; PROCR ENDOTHELIAL PROTEIN C RECEPTOR; EPCR;; CELL CYCLE, CENTROSOME-ASSOCIATED PROTEIN; CCCA;; CCD41 Asterisk 600647 H6 FAMILY HOMEOBOX 2; HMX2 HOMEOBOX GENE H6-LIKE; H6L;; NKX5.2 Caret 600648 MOVED TO 113800 Number Sign 600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA;; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR;; CPT II DEFICIENCY, HEPATIC;; CPT2 DEFICIENCY, INFANTILE Asterisk 600650 CARNITINE PALMITOYLTRANSFERASE II; CPT2 CPT II Number Sign 600651 FRAGILE SITE 11B; FRA11B Number Sign 600652 DEAFNESS, AUTOSOMAL DOMINANT 4A; DFNA4A DEAFNESS, AUTOSOMAL DOMINANT 4; DFNA4 Caret 600653 MOVED TO 600381 Asterisk 600654 PROTEASOME ACTIVATOR SUBUNIT 1; PSME1 PROTEASOME ACTIVATOR 28-ALPHA;; PA28-ALPHA; PA28A;; INTERFERON-GAMMA-INDUCIBLE PROTEIN 5111; IFI5111;; MCP ACTIVATOR, 29-KD SUBUNIT Asterisk 600655 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-2; EEF1B2 ELONGATION FACTOR 1, BETA-2A;; ELONGATION FACTOR 1, BETA; EF1B EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-1, PSEUDOGENE, INCLUDED; EEF1B1, INCLUDED; EEF1B2P1, INCLUDED;; EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-3, PSEUDOGENE, INCLUDED; EEF1B3, INCLUDED; EEF1B2P2, INCLUDED;; EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, BETA-4, PSEUDOGENE, INCLUDED; EEF1B4, INCLUDED; EEF1B2P3, INCLUDED Caret 600656 MOVED TO 600655 Caret 600657 MOVED TO 300140 Asterisk 600658 PROTEIN PHOSPHATASE 5, CATALYTIC SUBUNIT; PPP5C PP5 Asterisk 600659 E2F TRANSCRIPTION FACTOR 4; E2F4 Asterisk 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A Asterisk 600661 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE B; MEF2B Asterisk 600662 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C; MEF2C Asterisk 600663 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE D; MEF2D Asterisk 600664 CONSERVED HELIX-LOOP-HELIX UBIQUITOUS KINASE; CHUK INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE OF, ALPHA; IKBKA;; NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, KINASE OF, ALPHA; NFKBIKA;; I-KAPPA-B KINASE-ALPHA;; IKK-ALPHA; IKKA;; I-KAPPA-B KINASE 1; IKK1 Asterisk 600665 MELATONIN RECEPTOR 1A; MTNR1A MT1 Number Sign 600666 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3 POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE III; APKD3 Asterisk 600667 FRIZZLED, DROSOPHILA, HOMOLOG OF, 2; FZD2 Percent 600668 CHONDROCALCINOSIS 1; CCAL1 CHONDROCALCINOSIS WITH EARLY-ONSET OSTEOARTHRITIS Percent 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG IDIOPATHIC GENERALIZED EPILEPSY; IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1, INCLUDED; EIG1, INCLUDED;; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 8, INCLUDED NULL 600670 VARICELLA, SEVERE RECURRENT Caret 600671 MOVED TO 600594 Caret 600672 MOVED TO 300025 Asterisk 600673 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I); UBTF UPSTREAM BINDING FACTOR; UBF Percent 600674 MICROTIA-ANOTIA Asterisk 600675 X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; XRCC3 X-RAY REPAIR CROSS-COMPLEMENTING PROTEIN 3 Asterisk 600676 CATR TUMORIGENIC CONVERSION 1; CATR1 Caret 600677 MOVED TO 300192 Asterisk 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6 G/T MISMATCH-BINDING PROTEIN; GTBP NULL 600679 DERMOID CYSTS, FAMILIAL FRONTONASAL Caret 600680 MOVED TO 256730 Asterisk 600681 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2; KCNJ2 HHIRK1;; IRK1;; KIR2.1 Asterisk 600682 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 1; SLC16A1 MONOCARBOXYLATE TRANSPORTER 1; MCT1 Caret 600683 MOVED TO 109190 Asterisk 600684 T-LYMPHOCYTE SURFACE ANTIGEN LY-9; LY9 CD229;; SLAM FAMILY, MEMBER 3; SLAMF3 Asterisk 600685 KARYOPHERIN ALPHA-2; KPNA2 RECOMBINATION-ACTIVATING GENE COHORT 1; RCH1;; SRP1-ALPHA;; IMPORTIN ALPHA-1;; QIP2 Asterisk 600686 KARYOPHERIN ALPHA-1; KPNA1 SUPPRESSOR OF RNA POLYMERASE I MUTATION, S. CEREVISIAE, HOMOLOG OF; SRP1;; RECOMBINATION ACTIVATING GENE COHORT 2; RCH2;; IMPORTIN ALPHA-5 Asterisk 600687 T-CELL LYMPHOMA INVASION AND METASTASIS 1; TIAM1 Asterisk 600688 CARBOXYPEPTIDASE A2, PANCREATIC; CPA2 PROCARBOXYPEPTIDASE A2, PANCREATIC Caret 600689 MOVED TO 300096 Asterisk 600690 T-CELL LEUKEMIA TRANSLOCATION-ASSOCIATED GENE; TCTA Asterisk 600691 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 1; SLC27A1 LONG CHAIN FATTY ACID TRANSPORT PROTEIN; FATP;; FATTY ACID TRANSPORT PROTEIN 1; FATP1;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 4; ACSVL4 Asterisk 600692 TROPONIN T3, FAST SKELETAL; TNNT3 Asterisk 600693 POLYPYRIMIDINE TRACT-BINDING PROTEIN 1; PTBP1 PTB;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE I;; HNRNPI Asterisk 600694 INTERLEUKIN 6 SIGNAL TRANSDUCER; IL6ST GP130 TRANSDUCER CHAIN; GP130 Caret 600695 MOVED TO 601434 Asterisk 600696 ENOYL-CoA HYDRATASE 1, PEROXISOMAL; ECH1 DELTA-3,5-DELTA-2,4-DIENOYL CoA ISOMERASE Asterisk 600697 RETINOBLASTOMA-BINDING PROTEIN 5; RBBP5 RETINOBLASTOMA-BINDING PROTEIN RBQ3;; RBQ3 Asterisk 600698 HIGH MOBILITY GROUP AT-HOOK 2; HMGA2 HIGH MOBILITY GROUP PROTEIN I-C; HMGIC;; HIGH MOBILITY GROUP PROTEIN HMGIC BREAKPOINT ASSOCIATED WITH BENIGN LIPOMA; BABL;; LIPO HMGIC/LPP FUSION GENE, INCLUDED;; HMGIC/LHFP FUSION GENE, INCLUDED;; HMGIC/RAD51L1 FUSION GENE, INCLUDED;; HMGIC/HEI10 FUSION GENE, INCLUDED;; HMGIC/ALDH2 FUSION GENE, INCLUDED;; HMGIC/COX6C FUSION GENE, INCLUDED Caret 600699 MOVED TO 400003 Asterisk 600700 LIM DOMAIN-CONTAINING PREFERRED TRANSLOCATION PARTNER IN LIPOMA; LPP LIPOMA-PREFERRED PARTNER LPP/MLL FUSION GENE, INCLUDED;; LPP/HMGIC FUSION GENE, INCLUDED Asterisk 600701 HIGH MOBILITY GROUP AT-HOOK 1; HMGA1 HMGIY;; HIGH MOBILITY GROUP PROTEIN Ia; HMGA1A;; HIGH MOBILITY GROUP PROTEIN I HIGH MOBILITY GROUP PROTEIN Ib, INCLUDED; HMGA1B, INCLUDED;; HIGH MOBILITY GROUP PROTEIN Y, INCLUDED; HMGIY, INCLUDED;; HIGH MOBILITY GROUP PROTEIN Ic, INCLUDED; HMGA1C, INCLUDED Asterisk 600702 SODIUM CHANNEL, VOLTAGE-GATED, TYPE VIII, ALPHA SUBUNIT; SCN8A NAV1.6 Asterisk 600703 RIBOSOMAL PROTEIN S1-LIKE; RPS1L Caret 600704 MOVED TO 300047 NULL 600705 SATOYOSHI SYNDROME KOMURAGAERI DISEASE;; MUSCLE SPASMS, INTERMITTENT, WITH ALOPECIA, DIARRHEA, AND SKELETAL ABNORMALITIES NULL 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA Asterisk 600707 SIGNAL RECOGNITION PARTICLE, 9-KD; SRP9 Alu RNA BINDING PROTEIN, 9-KD SUBUNIT; ALURBP Asterisk 600708 SIGNAL RECOGNITION PARTICLE, 14-KD; SRP14 Alu RNA-BINDING PROTEIN, 14-KD SUBUNIT; ALURBP Asterisk 600709 ISOLEUCYL-tRNA SYNTHETASE; IARS ILRS;; ILERS Caret 600710 MOVED TO 600564 Asterisk 600711 ETS VARIANT GENE 4; ETV4 ETS TRANSLOCATION VARIANT 4;; E1A ENHANCER BINDING PROTEIN; E1AF ETV4/EWS FUSION GENE, INCLUDED Asterisk 600712 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN K; HNRNPK HNRPK Asterisk 600713 11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I; HSD11B1 HSD11L Asterisk 600714 DUAL-SPECIFICITY PHOSPHATASE 1; DUSP1 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 10; PTPN10;; CL100;; MAP KINASE PHOSPHATASE 1; MKP1 Asterisk 600715 THROMBOSPONDIN IV; THBS4 Asterisk 600716 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22 PEST-DOMAIN PHOSPHATASE; PEP;; LYMPHOID PHOSPHATASE; LYP;; PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE 8, FORMERLY; PTPN8, FORMERLY Caret 600717 MOVED TO 120165 Caret 600718 MOVED TO 185535 Asterisk 600719 NITRIC OXIDE SYNTHASE 2B; NOS2B Asterisk 600720 NITRIC OXIDE SYNTHASE 2C; NOS2C Number Sign 600721 D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1 D2HGA Asterisk 600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1 PALMITOYL-PROTEIN THIOESTERASE; PPT Asterisk 600723 MEMBRANE PROTEIN, PALMITOYLATED 2; MPP2 DISCS LARGE A, DROSOPHILA, HOMOLOG OF;; DLG-A TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF;; DISCS LARGE, HOMOLOG 2, FORMERLY; DLG2, FORMERLY Asterisk 600724 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-1; CNGB1 CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 2; CNCG2;; CYCLIC NUCLEOTIDE-GATED CHANNEL, PHOTORECEPTOR, cGMP-GATED, 3-LIKE; CNCG3L;; GLUTAMIC ACID-RICH PROTEIN 1; GAR1; GARP;; RETINAL ROD cGMP-GATED CHANNEL, BETA SUBUNIT;; RETINAL ROD cGMP-GATED CHANNEL, GAMMA SUBUNIT Asterisk 600725 SONIC HEDGEHOG; SHH Asterisk 600726 INDIAN HEDGEHOG; IHH Asterisk 600727 NUCLEAR FACTOR I/A; NFIA TRANSCRIPTION FACTOR NFIA;; KIAA1439 Asterisk 600728 NUCLEAR FACTOR I/B; NFIB TRANSCRIPTION FACTOR NFIB Asterisk 600729 NUCLEAR FACTOR I/C; NFIC TRANSCRIPTION FACTOR NFIC;; CTF Asterisk 600730 NEUROPEPTIDES B AND W RECEPTOR 1; NPBWR1 NPB AND NPW RECEPTOR 1;; G PROTEIN-COUPLED RECEPTOR 7; GPR7;; OPIOID-SOMATOSTATIN-LIKE RECEPTOR 7 Asterisk 600731 G PROTEIN-COUPLED RECEPTOR 8; GPR8 OPIOID-SOMATOSTATIN-LIKE RECEPTOR 8 Asterisk 600732 ADP-RIBOSYLATION FACTOR-LIKE 4D; ARL4D ADP-RIBOSYLATION FACTOR 4-LIKE; ARF4L Asterisk 600733 PANCREAS/DUODENUM HOMEOBOX PROTEIN 1; PDX1 PANCREATIC AND DUODENAL HOMEOBOX 1;; INSULIN PROMOTER FACTOR 1; IPF1;; HOMEODOMAIN TRANSCRIPTION FACTOR IPF1;; SOMATOSTATIN TRANSCRIPTION FACTOR 1; STF1;; IDX1 Asterisk 600734 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 5; KCNJ5 CARDIAC INWARD RECTIFIER; CIR;; G PROTEIN-ACTIVATED INWARDLY RECTIFYING POTASSIUM CHANNEL 4; GIRK4;; INWARDLY RECTIFYING POTASSIUM CHANNEL KIR3.4;; KATP1 Asterisk 600735 INTERFERON-INDUCED PROTEIN 35; IFI35 INTERFERON-INDUCIBLE PROTEIN, 35-KD; IFP35 NULL 600736 VELOFACIOSKELETAL SYNDROME Caret 600737 MOVED TO 605820 Asterisk 600738 SELECTIN P LIGAND; SELPLG P-SELECTIN GLYCOPROTEIN LIGAND;; PSGL1 Asterisk 600739 SHC-LIKE PROTEIN; SHCL1 Number Sign 600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3 FAMILIAL BENIGN HYPERCALCEMIA, TYPE III; FBH3;; HYPERCALCEMIA, FAMILIAL BENIGN, TYPE III;; HYPERCALCEMIA, FAMILIAL BENIGN, OKLAHOMA TYPE Caret 600741 MOVED TO 176636 Asterisk 600742 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE III; TGFBR3 BETA-GLYCAN Asterisk 600743 TRANSCRIPTION FACTOR AP4; TFAP4 Asterisk 600744 T-CELL TRANSCRIPTION FACTOR EB; TFEB TCFEB TFEB/ALPHA FUSION GENE, INCLUDED Asterisk 600745 APOLIPOPROTEIN C-IV; APOC4 Asterisk 600746 CAUDAL-TYPE HOMEOBOX TRANSCRIPTION FACTOR 1; CDX1 Asterisk 600747 T-BOX 2; TBX2 Asterisk 600748 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 6; TMBIM6 BAX INHIBITOR 1; BI1;; TESTIS-ENHANCED GENE TRANSCRIPT; TEGT Asterisk 600749 CCAAT/ENHANCER-BINDING PROTEIN, EPSILON; CEBPE C/EBP-EPSILON;; CRP1 Asterisk 600750 PENTRAXIN II, NEURONAL; NPTX2 NP2;; NEURONAL ACTIVITY-REGULATED PENTRAXIN; NARP Asterisk 600751 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 1; SIGLEC1 SIALOADHESIN; SN;; CD169 Asterisk 600752 G PROTEIN-COUPLED RECEPTOR 12; GPR12 Asterisk 600753 GOLGI APPARATUS PROTEIN 1; GLG1 GOLGI SIALOGLYCOPROTEIN MG-160;; E-SELECTIN LIGAND 1, MOUSE, HOMOLOG OF; ESL1 Asterisk 600754 MATRIX METALLOPROTEINASE 14; MMP14 MATRIX METALLOPROTEINASE 14, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 1;; MT1-MMP Asterisk 600755 SYNAPSIN II; SYN2 Asterisk 600756 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-PRIME; PPP2R4 PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT B-PRIME;; PHOSPHOTYROSYL PHOSPHATASE ACTIVATOR; PTPA;; PR53 Percent 600757 OROFACIAL CLEFT 3; OFC3 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 3 Asterisk 600758 PROTEIN-TYROSINE KINASE, CYTOPLASMIC; PTK2 FOCAL ADHESION KINASE; FAK;; FOCAL ADHESION KINASE 1; FAK1 Asterisk 600759 PRESENILIN 2; PSEN2 PS2;; STM2 Asterisk 600760 SODIUM CHANNEL, NONVOLTAGE-GATED 1, BETA SUBUNIT; SCNN1B SODIUM CHANNEL, EPITHELIAL, BETA SUBUNIT; SCNEB Asterisk 600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G SODIUM CHANNEL, EPITHELIAL, GAMMA SUBUNIT; SCNEG Asterisk 600762 HUMAN PAPILLOMAVIRUS E5 CENTRAL SEQUENCE-LIKE 1; HPVC1 PAPILLOMAVIRUS E5-LIKE PROTEIN; PE5L Asterisk 600763 TUMOR PROTEIN, TRANSLATIONALLY-CONTROLLED 1; TPT1 TRANSLATIONALLY CONTROLLED TUMOR PROTEIN; TCTP;; HISTAMINE-RELEASING FACTOR, IMMUNOGLOBULIN E-DEPENDENT; HRF Asterisk 600764 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-RELATED; MR1 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I-LIKE SEQUENCE; HLALS;; MHC-RELATED PROTEIN 1 Caret 600765 MOVED TO 600137 Caret 600766 MOVED TO 300104 Asterisk 600767 GDP-DISSOCIATION INHIBITOR 2; GDI2 RAB GDP-DISSOCIATION INHIBITOR, BETA; RABGDIB;; RAB GDI-BETA Asterisk 600768 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 9; PTPN9 Asterisk 600769 TETRASPANIN 8; TSPAN8 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 3; TM4SF3;; TUMOR ASSOCIATED ANTIGEN CO-029 Asterisk 600770 MUCIN 5, SUBTYPE B, TRACHEOBRONCHIAL; MUC5B MUC5 Percent 600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS Asterisk 600772 TAF11 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 28-KD; TAF11 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2I;; TAF2I TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 28-KD; TAFII28 Asterisk 600773 TAF12 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 20-KD; TAF12 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2J; TAF2J;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 20-KD; TAFII20 Asterisk 600774 TAF13 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 18-KD; TAF13 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2K; TAF2K;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 18-KD; TAFII18 Number Sign 600775 CRANIOSYNOSTOSIS 4; CRS4 NULL 600776 FRYNS MICROPHTHALMIA SYNDROME MICROPHTHALMIA WITH FACIAL CLEFTING;; ANOPHTHALMIA-PLUS SYNDROME Asterisk 600777 TRANSCRIPTION TERMINATION FACTOR, RNA POLYMERASE I; TTF1 Asterisk 600778 CYCLIN-DEPENDENT KINASE INHIBITOR 1B; CDKN1B p27(KIP1);; KIP1 Caret 600779 MOVED TO 164874 Caret 600780 MOVED TO 241410 Asterisk 600781 PEPTIDE YY; PYY Asterisk 600782 SYNAPTOTAGMIN 5; SYT5 Asterisk 600783 HISTIDYL-tRNA SYNTHETASE 2; HARS2 HISTIDYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL HISRS;; HISTIDYL-tRNA SYNTHETASE-LIKE; HARSL;; HARS-RELATED GENE; HARSR;; HO3 Asterisk 600784 GRANZYME K; GZMK TRYPTASE II; TRYP2;; GRANZYME 3 Percent 600785 VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR; VDDR2B Asterisk 600786 ELONGIN A; ELOA TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3; TCEB3;; TCEB3A;; ELONGIN A1;; ELONGIN, 110-KD SUBUNIT Asterisk 600787 ELONGIN B; ELOB TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 2; TCEB2;; ELONGIN, 18-KD SUBUNIT Asterisk 600788 ELONGIN C; ELOC TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 1; TCEB1;; ELONGIN, 15-KD SUBUNIT Asterisk 600789 RIBOSOMAL PROTEIN L23-LIKE; RPL23L L23 MITOCHONDRIAL-RELATED PROTEIN; L23MRP; MRPL23 Percent 600790 CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL CRAPB;; PROGRESSIVE BIFOCAL CHORIORETINAL ATROPHY; PBCRA Number Sign 600791 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; NSRD4;; DILATED VESTIBULAR AQUEDUCT; DVA Percent 600792 DEAFNESS, AUTOSOMAL RECESSIVE 5; DFNB5 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 5; NSRD5 Caret 600793 MOVED TO 300081 Number Sign 600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; HMN5A HMN VA;; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA; DHMN5A;; DHMN VA;; SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA; DSMAVA;; SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V; DSMAV;; SPINAL MUSCULAR ATROPHY, DISTAL, WITH UPPER LIMB PREDOMINANCE Number Sign 600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 DMT1; DEM;; DEMENTIA, FAMILIAL NONSPECIFIC Asterisk 600796 SPLICING FACTOR 3A, SUBUNIT 2; SF3A2 SF3A, 66-KD SUBUNIT; SF3A66;; SPLICEOSOME-ASSOCIATED PROTEIN, 62-KD; SAP62 Asterisk 600797 INSULIN RECEPTOR SUBSTRATE 2; IRS2 Asterisk 600798 NECTIN 2; NECTIN2 POLIOVIRUS RECEPTOR-LIKE 2; PVRL2;; HERPESVIRUS ENTRY MEDIATOR B; HVEB;; POLIOVIRUS RECEPTOR-RELATED 2; PVRR2; PRR2;; CD112 ANTIGEN; CD112;; NECTIN 2 Asterisk 600799 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II; BMPR2 Asterisk 600800 NGFIA-BINDING PROTEIN; NAB1 EGR1-BINDING PROTEIN 1 NULL 600801 ISOPROTERENOL-MEDIATED VASODILATATION Number Sign 600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE Number Sign 600803 GALLBLADDER DISEASE 1; GBD1 CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED; LPAC Asterisk 600804 MELATONIN RECEPTOR 1B; MTNR1B MEL1B;; MT2 Asterisk 600805 LAMININ, ALPHA-3; LAMA3 LAMININ A3;; LAMININ 5, ALPHA-3 SUBUNIT;; LAM5, ALPHA-3 SUBUNIT;; EPILIGRIN, 170-KD SUBUNIT;; BM600 Asterisk 600806 CALPONIN 1; CNN1 CALPONIN, BASIC, SMOOTH MUSCLE;; CALPONIN H1, MOUSE, HOMOLOG OF;; SMOOTH MUSCLE-CELL CALPONIN; SMCC Number Sign 600807 ASTHMA, SUSCEPTIBILITY TO ASTHMA, BRONCHIAL;; ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO ASTHMA, PROTECTION AGAINST, INCLUDED;; ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN, INCLUDED Percent 600808 ENURESIS, NOCTURNAL, 2; ENUR2 Caret 600809 MOVED TO 132890 Asterisk 600810 PHOSPHOLIPASE C, BETA-4; PLCB4 PLC-BETA-4 Asterisk 600811 DNA DAMAGE-BINDING PROTEIN 2; DDB2 DDB, p48 SUBUNIT Asterisk 600812 SPLICING FACTOR, SERINE/ARGININE-RICH, 1; SRSF1 SERINE/ARGININE-RICH SPLICING FACTOR 1;; SPLICING FACTOR, ARGININE/SERINE-RICH, 1; SFRS1;; ALTERNATIVE SPLICING FACTOR; ASF;; SPLICING FACTOR 2; SF2;; SPLICING FACTOR, ARGININE/SERINE-RICH, 30-KD, A; SRp30a Asterisk 600813 SPLICING FACTOR, SERINE/ARGININE-RICH, 2; SRSF2 SERINE/ARGININE-RICH SPLICING FACTOR 2;; SPLICING FACTOR SC35; SC35;; SPLICING FACTOR, ARGININE/SERINE-RICH, 30-KD, B; SRp30b;; SPLICING FACTOR, ARGININE/SERINE-RICH, 2; SFRS2 Asterisk 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A MRE11 Asterisk 600815 POLYMERASE (DNA-DIRECTED), DELTA 2, REGULATORY SUBUNIT; POLD2 DNA POLYMERASE, DELTA 2, SMALL SUBUNIT Asterisk 600816 HEAT-SHOCK 70-KD PROTEIN 8; HSPA8 HEAT-SHOCK COGNATE PROTEIN, 71-KD; HSC71;; HSP73;; HSC70;; HEAT-SHOCK 70-KD PROTEIN 10, FORMERLY; HSPA10, FORMERLY;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 1; LAP1;; LPS-ASSOCIATED PROTEIN 1 Asterisk 600817 VISININ-LIKE 1; VSNL1 VILIP;; VILIP1 Asterisk 600818 TRANSGELIN; TAGLN SM22-ALPHA; SM22 Asterisk 600819 FMR1 AUTOSOMAL HOMOLOG 1; FXR1 FRAGILE X-RELATED PROTEIN 1; FXR1P;; FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 1 Asterisk 600820 ARCHAIN 1; ARCN1 COATOMER PROTEIN COMPLEX, SUBUNIT DELTA; COPD;; COP, DELTA Asterisk 600821 ARGININE VASOPRESSIN RECEPTOR 1A; AVPR1A Asterisk 600822 TAF9 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 32-KD; TAF9 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2G; TAF2G;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 32-KD; TAFII32;; TAFII31 Asterisk 600823 PROTEASE, SERINE, 8; PRSS8 PROSTASIN Asterisk 600824 CYSTEINE- AND GLYCINE-RICH PROTEIN 3; CSRP3 CYSTEINE-RICH PROTEIN 3; CRP3;; LIM DOMAIN PROTEIN, CARDIAC;; CLP LIM DOMAIN PROTEIN, MUSCLE; MLP Asterisk 600825 RAR-RELATED ORPHAN RECEPTOR A; RORA RAR-RELATED ORPHAN RECEPTOR ALPHA;; RZR-ALPHA; RZRA;; RETINOIC ACID-BINDING RECEPTOR ALPHA Asterisk 600826 CHONDROITIN SULFATE PROTEOGLYCAN 3; CSPG3 NEUROCAN; NCAN Asterisk 600827 PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA-PRIME; PDE6C PDEA2 Asterisk 600828 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, O SUBUNIT; ATP5O MITOCHONDRIAL ATP SYNTHASE, O SUBUNIT;; OLIGOMYCIN SENSITIVITY-CONFERRING PROTEIN; OSCP Asterisk 600829 INOSITOL POLYPHOSPHATE PHOSPHATASE-LIKE 1; INPPL1 SH2-CONTAINING INOSITOL PHOSPHATASE 2; SHIP2 Asterisk 600830 TRIPARTITE MOTIF-CONTAINING PROTEIN 26; TRIM26 ACID FINGER PROTEIN; AFP;; ZINC FINGER PROTEIN 173, FORMERLY; ZNF173, FORMERLY Asterisk 600831 DEATH-ASSOCIATED PROTEIN KINASE 1; DAPK1 DAPK Asterisk 600832 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER A; ANP32A PUTATIVE HUMAN HLA CLASS II-ASSOCIATED PROTEIN; PHAP1;; PHAP I;; LEUCINE-RICH ACIDIC NUCLEAR PROTEIN; LANP Asterisk 600833 SUPPRESSOR OF TUMORIGENICITY 7; ST7 TSG7;; RAY1;; FAM4A1 Asterisk 600834 ZINC FINGER PROTEIN 165; ZNF165 LD65 Asterisk 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12 STROMAL CELL-DERIVED FACTOR 1; SDF1;; PRE-B CELL GROWTH-STIMULATING FACTOR; PBSF Asterisk 600836 CRYSTALLIN, BETA-A2; CRYBA2 Asterisk 600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF Asterisk 600838 FORKHEAD BOX N1; FOXN1 WINGED HELIX NUDE; WHN Asterisk 600839 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1; SLC12A1 SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2; NKCC2 Asterisk 600840 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 2; SLC12A2 SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 1; NKCC1;; NA-K-CL COTRANSPORTER, BUMETANIDE-SENSITIVE; BSC NULL 600841 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-1-LIKE 14; EEF1A1L14 PROSTATIC CARCINOMA TUMOR-INDUCING GENE 1; PTI1 Asterisk 600842 GLUCOKINASE REGULATORY PROTEIN; GCKR GKRP Asterisk 600843 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 3; P2RX3 PURINOCEPTOR P2X3; P2X3;; P2X RECEPTOR, SUBUNIT 3 Asterisk 600844 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 2; P2RX2 P2X RECEPTOR, SUBUNIT 2; P2X2 Asterisk 600845 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 1; P2RX1 PURINOCEPTOR P2X1; P2X1;; P2X RECEPTOR, SUBUNIT 1 Asterisk 600846 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 4; P2RX4 PURINOCEPTOR P2X4; P2X4; P2X4R;; P2X RECEPTOR, SUBUNIT 4 Caret 600847 MOVED TO 600695 Asterisk 600848 NUCLEAR RECEPTOR COREPRESSOR 2; NCOR2 SILENCING MEDIATOR FOR RETINOID AND THYROID HORMONE RECEPTORS; SMRT Asterisk 600849 NUCLEAR RECEPTOR COREPRESSOR 1; NCOR1 Number Sign 600850 SCHIZOPHRENIA 4; SCZD4 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED NULL 600851 MITOCHONDRIAL IMPORT-STIMULATING FACTOR MSF Number Sign 600852 RETINITIS PIGMENTOSA 17; RP17 Asterisk 600853 N-DEACETYLASE/N-SULFOTRANSFERASE 1; NDST1 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 1;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE; HSST Caret 600854 MOVED TO 600877 Asterisk 600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1; DYRK1;; DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE; DYRK;; MNB PROTEIN KINASE, SERINE/THREONINE-SPECIFIC;; MINIBRAIN, DROSOPHILA, HOMOLOG OF; MNB; MNBH Asterisk 600856 CYCLIN-DEPENDENT KINASE INHIBITOR 1C; CDKN1C p57(KIP2);; KIP2 Asterisk 600857 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN; SDHA SUCCINATE DEHYDROGENASE 1, S. CEREVISIAE, HOMOLOG OF;; SDH1, HOMOLOG OF Number Sign 600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6 Asterisk 600859 AMINOACYL tRNA SYNTHETASE COMPLEX-INTERACTING MULTIFUNCTIONAL PROTEIN 2; AIMP2 JTV1 GENE;; tRNA SYNTHETASE COFACTOR p38; p38 Asterisk 600860 GENERAL TRANSCRIPTION FACTOR IIIA; GTF3A TFIIIA Asterisk 600861 REGULATOR OF G PROTEIN SIGNALING 2; RGS2 BASIC HELIX-LOOP-HELIX PHOSPHOPROTEIN G0S8 Asterisk 600862 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN WITH FG REPEATS 1; AGFG1 ARFGAP WITH FG REPEATS 1;; HIV-1 REV-BINDING PROTEIN; HRB;; REV-INTERACTING PROTEIN; RIP;; REV/REX ACTIVATION DOMAIN-BINDING PROTEIN; RAB Asterisk 600863 CASEIN KINASE I, EPSILON; CSNK1E DOUBLETIME, DROSOPHILA, HOMOLOG OF; DBT Asterisk 600864 CASEIN KINASE I, DELTA; CSNK1D Asterisk 600865 RETICULON 1; RTN1 NEUROENDOCRINE-SPECIFIC PROTEIN; NSP Asterisk 600866 PROGRAMMED CELL DEATH 2; PDCD2 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 7; ZMYND7 Asterisk 600867 SIGNAL SEQUENCE RECEPTOR, BETA; SSR2 TRANSLOCON-ASSOCIATED PROTEIN, BETA;; TRAP-BETA Asterisk 600868 SIGNAL SEQUENCE RECEPTOR, ALPHA; SSR1 TRANSLOCON-ASSOCIATED PROTEIN, ALPHA SUBUNIT;; TRAP-ALPHA; TRAPA Asterisk 600869 G PROTEIN-COUPLED RECEPTOR KINASE 6; GRK6 GPRK6 Asterisk 600870 G PROTEIN-COUPLED RECEPTOR KINASE 5; GRK5 GPRK5 Asterisk 600871 GROWTH FACTOR-INDEPENDENT 1; GFI1 ZNF163 Caret 600872 MOVED TO 300113 Asterisk 600873 CHITOBIASE, DI-N-ACETYL-; CTBS CHITOBIASE, LYSOSOMAL; CTB Asterisk 600874 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-5; GNG5 G PROTEIN GAMMA-5 SUBUNIT Asterisk 600875 ACYLPHOSPHATASE, ERYTHROCYTE; ACYP1 ACYPE Asterisk 600876 SYNTAXIN 3; STX3 STX3A Asterisk 600877 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 6; KCNJ6 GIRK2;; POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 7, FORMERLY; KCNJ7, FORMERLY Caret 600878 MOVED TO 601296 Asterisk 600879 NUCLEAR RESPIRATORY FACTOR 1; NRF1 ALPHA-PAL Number Sign 600880 BUDD-CHIARI SYNDROME; BDCHS MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED Number Sign 600881 CATARACT 10, MULTIPLE TYPES; CTRCT10 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS Number Sign 600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB; HMSN IIB;; HMSN2B Percent 600883 DIABETES MELLITUS, INSULIN-DEPENDENT, 8; IDDM8 INSULIN-DEPENDENT DIABETES MELLITUS 8 Percent 600884 CARDIOMYOPATHY, DILATED, 1B; CMD1B CARDIOMYOPATHY, FAMILIAL DILATED, 1; CMPD1;; CARDIOMYOPATHY, FAMILIAL DILATED; FDC Caret 600885 MOVED TO 251260 Number Sign 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC HYPERFERRITINEMIA-CATARACT SYNDROME;; HYPERFERRITINEMIA, HEREDITARY, WITH CONGENITAL CATARACTS; HHCS Asterisk 600887 MutS, E. COLI, HOMOLOG OF, 3; MSH3 MISMATCH REPAIR PROTEIN 1; MRP1;; DIVERGENT UPSTREAM PROTEIN; DUP Asterisk 600888 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; ARHGEF5 TRANSFORMING IMMORTALIZED MAMMARY; TIM;; ONCOGENE TIM Asterisk 600889 COMPLEMENT FACTOR H-RELATED 2; CFHR2 FACTOR H-RELATED GENE 2; FHR2;; H FACTOR-LIKE 3; HFL3;; CFHL2 Asterisk 600890 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT;; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT; MTPA;; LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE; LCHAD;; ECHA Caret 600891 MOVED TO 300098 Asterisk 600892 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 2; SIM2 SIM Caret 600893 MOVED TO 300099 Caret 600894 MOVED TO 300574 Asterisk 600895 PROLACTIN-RELEASING HORMONE RECEPTOR; PRLHR PRLH RECEPTOR;; PROLACTIN-RELEASING PEPTIDE RECEPTOR; PRRPR;; G PROTEIN-COUPLED RECEPTOR 10; GPR10;; GR3 Asterisk 600896 G PROTEIN-COUPLED RECEPTOR 14; GPR14 UROTENSIN RECEPTOR; UTR;; UROTENSIN II RECEPTOR; UTR2 Asterisk 600897 GAP JUNCTION PROTEIN, ALPHA-8; GJA8 GAP JUNCTION PROTEIN, 50-KD;; CONNEXIN 50; CX50;; LENS INTRINSIC MEMBRANE PROTEIN MP70; MP70 Asterisk 600898 SRY-BOX 11; SOX11 SRY-RELATED HMG-BOX GENE 11 Asterisk 600899 PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC DNA-DEPENDENT PROTEIN KINASE, CATALYTIC SUBUNIT; DNPK1;; p350;; DNA-PKcs;; DNA-DEPENDENT PROTEIN KINASE; DNAPK;; HYPERRADIOSENSITIVITY COMPLEMENTING 1, MOUSE, HOMOLOG OF; HYRC1 Asterisk 600900 SARCOGLYCAN, BETA; SGCB DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 43-KD Number Sign 600901 FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE FACE Asterisk 600902 SELENOPHOSPHATE SYNTHETASE 1; SEPHS1 SPS1 NULL 600903 WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM Asterisk 600904 ASTROTACTIN 1; ASTN1 ASTROTACTIN; ASTN Caret 600905 MOVED TO 600600 NULL 600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY NULL 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS NULL 600908 KENNERKNECHT SYNDROME AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS Asterisk 600909 LANOSTEROL SYNTHASE; LSS 2,3-OXIDOSQUALENE-LANOSTEROL CYCLASE; OSC Asterisk 600910 INSULIN-LIKE 4; INSL4 EARLY PLACENTA INSULIN-LIKE PEPTIDE; EPIL;; PLACENTIN Asterisk 600911 METALLOPHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 2; MPPED2 CHROMOSOME 11 OPEN READING FRAME 8; C11ORF8;; FETAL BRAIN PROTEIN 239;; D11S302E Asterisk 600912 TRANSCRIPTION FACTOR 19; TCF19 SC1 Caret 600913 MOVED TO 602055 Asterisk 600914 SPLICING FACTOR, SERINE/ARGININE-RICH, 5; SRSF5 SERINE/ARGININE-RICH SPLICING FACTOR 5;; SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5;; SPLICING FACTOR, ARGININE/SERINE-RICH, 40-KD; SRp40 Asterisk 600915 NESTIN; NES Asterisk 600916 INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD; INPP4A INPP4 Asterisk 600917 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3; PPP1R3;; PROTEIN PHOSPHATASE 1, GLYCOGEN-ASSOCIATED REGULATORY SUBUNIT; PP1G;; PROTEIN PHOSPHATASE 1, GLYCOGEN-TARGETING SUBUNIT, MUSCLE; GM Caret 600918 MOVED TO 220100 Number Sign 600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED ANKYRIN-B SYNDROME LONG QT SYNDROME 4, INCLUDED; LQT4, INCLUDED Number Sign 600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION;; BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES Asterisk 600921 FIBROBLAST GROWTH FACTOR 9; FGF9 GLIA-ACTIVATING FACTOR; GAF Asterisk 600922 MYOSIN LIGHT CHAIN KINASE; MYLK MYOSIN LIGHT POLYPEPTIDE KINASE; MLCK KINASE-RELATED PROTEIN, INCLUDED; KRP, INCLUDED;; TELOKIN, INCLUDED Asterisk 600923 PROTOPORPHYRINOGEN OXIDASE; PPOX Asterisk 600924 GROWTH FACTOR, ERV1-LIKE; GFER ERV1, S. CEREVISIAE, HOMOLOG OF; HERV1;; AUGMENTER OF LIVER REGENERATION; ALR Asterisk 600925 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J; PTPRJ DEP1;; PROTEIN-TYROSINE PHOSPHATASE, ETA;; SUSCEPTIBILITY TO COLON CANCER 1, MOUSE, HOMOLOG OF; SCC1;; CD148 Asterisk 600926 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EPSILON; PTPRE Asterisk 600927 CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D p19(INK4D) Asterisk 600928 NITROGEN PERMEASE REGULATOR-LIKE 3; NPRL3 CHROMOSOME 16 OPEN READING FRAME 35; C16ORF35;; CONSERVED GENE TELOMERIC TO ALPHA GLOBIN CLUSTER Asterisk 600929 CRYSTALLIN, BETA-B1; CRYBB1 Asterisk 600930 SPERM ADHESION MOLECULE 1; SPAM1 PH20 NULL 600931 PROTOCADHERIN 3 PCDH3 Asterisk 600932 POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 9; KCNJ9 G PROTEIN-COUPLED INWARD RECTIFIER POTASSIUM CHANNEL; GIRK3 Asterisk 600933 COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1 G PROTEIN-COUPLED RECEPTOR 11; GPR11;; PROTEINASE-ACTIVATED RECEPTOR 2; PAR2;; PROTEASE-ACTIVATED RECEPTOR 2 Asterisk 600934 FOLATE HYDROLASE 1; FOLH1 FOLH;; GLUTAMATE CARBOXYPEPTIDASE II; GCP2;; PROSTATE-SPECIFIC MEMBRANE ANTIGEN; PSM; PSMA;; N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE 1; NAALAD1;; NAALADase I Asterisk 600935 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8 INWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.1 Asterisk 600936 HYALURONAN-MEDIATED MOTILITY RECEPTOR; HMMR RHAMM Asterisk 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11 POTASSIUM CHANNEL, INWARDLY RECTIFYING, BIR SUBUNIT;; BETA-CELL INWARD RECTIFIER SUBUNIT; BIR;; INWARDLY RECTIFYING POTASSIUM CHANNEL Kir6.2 Asterisk 600938 RETINOBLASTOMA-BINDING PROTEIN 6; RBBP6 p53-ASSOCIATED CELLULAR PROTEIN, TESTIS-DERIVED; PACT;; P2PR;; SNAMA, DROSOPHILA, HOMOLOG OF; SNAMA Asterisk 600939 INTERLEUKIN 11 RECEPTOR, ALPHA; IL11RA IL11RA/GALT SPLICED READ-THROUGH TRANSCRIPT, INCLUDED Asterisk 600940 LIGASE III, DNA, ATP-DEPENDENT; LIG3 DNA LIGASE III Asterisk 600941 BILIVERDIN REDUCTASE B; BLVRB BVRB;; NADPH-FLAVIN REDUCTASE; FLR;; METHEMOGLOBIN REDUCTASE;; NADPH REDUCTASE Caret 600942 MOVED TO 600943 Asterisk 600943 SERPIN PEPTIDASE INHIBITOR, CLADE H, MEMBER 1; SERPINH1 COLLAGEN-BINDING PROTEIN 2; CBP2;; COLLIGIN 2;; SERPINH2;; HEAT-SHOCK PROTEIN 47; HSP47;; RHEUMATOID ARTHRITIS ANTIGEN-A47; RA-A47 CBP1, INCLUDED Asterisk 600944 DEOXYHYPUSINE SYNTHASE; DHPS Asterisk 600945 UROCORTIN; UCN UROTENSIN I Asterisk 600946 GROWTH HORMONE RECEPTOR; GHR GROWTH HORMONE-BINDING PROTEIN, INCLUDED; GHBP, INCLUDED Asterisk 600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1 HAP2;; NEUROAN 1 Asterisk 600948 MYELIN-ASSOCIATED OLIGODENDROCYTE BASIC PROTEIN; MOBP Asterisk 600949 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE REGION-2 IGV2; IGHV2 Asterisk 600950 ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT SEROTONIN N-ACETYLTRANSFERASE; SNAT Asterisk 600951 TELOMERIC REPEAT-BINDING FACTOR 1; TERF1 TRF1;; TRF;; PIN2 NULL 600952 TRANSSEXUALITY Asterisk 600953 INTERLEUKIN 18; IL18 INTERFERON-GAMMA-INDUCING FACTOR; IGIF Asterisk 600954 DEATH-ASSOCIATED PROTEIN; DAP DAP1 Number Sign 600955 PROPROTEIN CONVERTASE 1/3 DEFICIENCY OBESITY AND ENDOCRINOPATHY DUE TO IMPAIRED PROCESSING OF PROHORMONES Asterisk 600956 ANTI-MULLERIAN HORMONE TYPE II RECEPTOR; AMHR2 ANTI-MULLERIAN HORMONE RECEPTOR; AMHR;; MULLERIAN INHIBITING SUBSTANCE TYPE II RECEPTOR; MISR2 Asterisk 600957 ANTI-MULLERIAN HORMONE; AMH MULLERIAN-INHIBITING SUBSTANCE; MIS;; MULLERIAN-INHIBITING FACTOR; MIF Asterisk 600958 MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3 Asterisk 600959 COATOMER PROTEIN COMPLEX, SUBUNIT BETA 1; COPB1 COATOMER PROTEIN COMPLEX, SUBUNIT BETA; COPB;; BETA COAT PROTEIN Asterisk 600960 SET NUCLEAR PROTOONCOGENE; SET SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED;; INHIBITOR OF GZMA-ACTIVATED DNase; IGAAD;; TAFI-BETA Caret 600961 MOVED TO 601498 Number Sign 600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK PPKNE;; NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA;; KERATODERMA, NONEPIDERMOLYTIC PALMOPLANTAR;; TYLOSIS Asterisk 600963 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5 DM LOCUS-ASSOCIATED HOMEODOMAIN PROTEIN; DMAHP Caret 600964 MOVED TO 266500 Number Sign 600965 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6 DEAFNESS, AUTOSOMAL DOMINANT 14; DFNA14;; DEAFNESS, AUTOSOMAL DOMINANT 38; DFNA38 Asterisk 600966 LLGL SCRIBBLE CELL POLARITY COMPLEX COMPONENT 1; LLGL1 LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 1;; LLGL;; HUGL1;; DLG4, FORMERLY Asterisk 600967 E2F TRANSCRIPTION FACTOR 5; E2F5 Asterisk 600968 SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 3; SLC12A3 SODIUM-CHLORIDE COTRANSPORTER, THIAZIDE-SENSITIVE; NCCT;; THIAZIDE-SENSITIVE NA-CL COTRANSPORTER; TSC;; SODIUM-CHLORIDE COTRANSPORTER; NCC Number Sign 600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY, INCLUDED Asterisk 600970 MYOSIN VI; MYO6 Number Sign 600971 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6; NSRD6 Number Sign 600972 ACHONDROGENESIS, TYPE IB; ACG1B ACHONDROGENESIS, FRACCARO TYPE Caret 600973 MOVED TO 600308 Number Sign 600974 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7 DEAFNESS, AUTOSOMAL RECESSIVE 11; DFNB11 Percent 600975 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B GLAUCOMA, PRIMARY CONGENITAL, TYPE B;; GLC3, TYPE B Asterisk 600976 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 1; FAT1 Number Sign 600977 CONE-ROD DYSTROPHY 5; CORD5 Asterisk 600978 LYMPHOTOXIN-BETA; LTB TUMOR NECROSIS FACTOR C; TNFC Asterisk 600979 LYMPHOTOXIN B RECEPTOR; LTBR LYMPHOTOXIN-BETA RECEPTOR;; LT-BETA-R;; TUMOR NECROSIS FACTOR C RECEPTOR; TNFCR Asterisk 600980 DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1; DMP1 Asterisk 600981 PHOSPHOGLUCOMUTASE 5; PGM5 Asterisk 600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1 MAP/ERK KINASE KINASE 1; MEKK1;; MAPKKK1;; MEK KINASE Asterisk 600983 NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2 MINERALOCORTICOID RECEPTOR; MLR; MCR; MR;; ALDOSTERONE RECEPTOR Asterisk 600984 ACTIVATING TRANSCRIPTION FACTOR 6, BETA; ATF6B cAMP RESPONSE ELEMENT-BINDING PROTEIN-LIKE 1; CREBL1;; CREB-RELATED PROTEIN; CREBRP Asterisk 600985 TENASCIN XB; TNXB TENASCIN X; TNX;; HEXABRACHION-LIKE; HXBL TENASCIN XB, ISOFORM 1, INCLUDED; TNXB1, INCLUDED;; TENASCIN XB, ISOFORM 2, INCLUDED; TNXB2, INCLUDED Asterisk 600986 TRIPARTITE MOTIF-CONTAINING PROTEIN 46; TRIM46 GENE Y; GENEY;; TRIFIC Number Sign 600987 CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY, AND DIGITAL ANOMALIES Asterisk 600988 MANNOSIDASE, ALPHA, CLASS 2A, MEMBER 2; MAN2A2 MANA2X NULL 600989 INFUNDIBULOPELVIC DYSGENESIS Caret 600990 MOVED TO 119580 NULL 600991 HYDROCEPHALUS, SPRENGEL ANOMALY, AND COSTOVERTEBRAL DYSPLASIA Caret 600992 MOVED TO 206900 Asterisk 600993 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 4; SMAD4 MADH4;; SMA- AND MAD-RELATED PROTEIN 4;; DELETED IN PANCREATIC CARCINOMA 4; DPC4 Number Sign 600994 DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5 Number Sign 600995 NEPHROTIC SYNDROME, TYPE 2; NPHS2 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1 Number Sign 600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 2; ARVC2 Asterisk 600997 EPHRIN RECEPTOR EphB2; EPHB2 ELK-RELATED TYROSINE KINASE; ERK;; DEVELOPMENTALLY REGULATED EPH-RELATED TYROSINE KINASE; DRT;; EPH TYROSINE KINASE 3; EPHT3;; HEK5 Asterisk 600998 GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE; GNAQ G PROTEIN, ALPHA SUBUNIT, Gq CLASS;; G-ALPHA-q Asterisk 600999 MYC-ASSOCIATED ZINC FINGER PROTEIN; MAZ ZF87;; PUR1, MOUSE, HOMOLOG OF Caret 601000 MOVED TO 109170 Number Sign 601001 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1 Asterisk 601002 GLUTATHIONE SYNTHETASE; GSS GSHS Number Sign 601003 BRODY MYOPATHY NULL 601004 PORTAL VEIN, CAVERNOUS TRANSFORMATION OF Number Sign 601005 TIMOTHY SYNDROME; TS LONG QT SYNDROME WITH SYNDACTYLY Caret 601006 MOVED TO 138890 Asterisk 601007 LEPTIN RECEPTOR; LEPR OBR Caret 601008 MOVED TO 148760 Asterisk 601009 TIGHT JUNCTION PROTEIN 1; TJP1 ZONA OCCLUDENS 1; ZO1 Asterisk 601010 TRANSCRIPTION FACTOR 15; TCF15 PARAXIS;; EC2 Asterisk 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4; CACNL1A4;; CaV2.1 CACNA1A C-TERMINAL POLYPEPTIDE, INCLUDED;; ALPHA-1A C-TERMINAL POLYPEPTIDE, INCLUDED;; ALPHA-1ACT, INCLUDED Asterisk 601012 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, N TYPE, ALPHA-1B SUBUNIT; CACNA1B CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 5; CACNL1A5;; CaV2.2 Asterisk 601013 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1E SUBUNIT; CACNA1E CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 6; CACNL1A6 CaV2.3;; CALCIUM CHANNEL, R TYPE Asterisk 601014 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 1; DLG1 SYNAPSE-ASSOCIATED PROTEIN 97; SAP97 Asterisk 601015 NPC2 GENE; NPC2 EPIDIDYMAL SECRETORY PROTEIN; HE1 NULL 601016 MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM DINCSOY SYNDROME Asterisk 601017 SYNTROPHIN, ALPHA-1; SNTA1 SNT1;; PRO-TGF-ALPHA CYTOPLASMIC DOMAIN-INTERACTING PROTEIN 1; TACIP1 Caret 601018 MOVED TO 600027 Asterisk 601019 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 9; SLC6A9 GLYCINE TRANSPORTER, TYPE 1; GLYT1 GLYCINE TRANSPORTER 1A, INCLUDED; GLYT1A, INCLUDED;; GLYCINE TRANSPORTER 1B, INCLUDED; GLYT1B, INCLUDED Asterisk 601020 CD86 ANTIGEN; CD86 CD28 ANTIGEN LIGAND 2; CD28LG2;; B-LYMPHOCYTE ACTIVATION ANTIGEN B7-2; LAB7-2;; B72 ANTIGEN Asterisk 601021 NUCLEOPORIN, 98-KD; NUP98 NUP98-NUP96 PRECURSOR PROTEIN, INCLUDED;; NUCLEOPORIN, 96-KD, INCLUDED; NUP96, INCLUDED;; NUP98/NSD1 FUSION GENE, INCLUDED;; NUP98/NSD3 FUSION GENE, INCLUDED;; NUP98/PMX1 FUSION GENE, INCLUDED;; NUP98/HOXA9 FUSION GENE, INCLUDED;; NUP98/TOP1 FUSION GENE, INCLUDED;; NUP98/DDX10 FUSION GENE, INCLUDED;; NUP98/HOXD11 FUSION GENE, INCLUDED;; NUP98/HOXC13 FUSION GENE, INCLUDED;; NUP98/ADD3 FUSION GENE, INCLUDED;; NUP98/SETBP1 FUSION GENE, INCLUDED;; NUB98/PHF23 FUSION GENE, INCLUDED;; NUB98/RARG FUSION GENE, INCLUDED;; NUP98/CCDC28A FUSION GENE, INCLUDED;; NUP98/IQCG FUSION GENE, INCLUDED Asterisk 601022 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE 1; NFKBIL1 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS-LIKE; IKBL;; NUCLEAR FACTOR KAPPA-B INHIBITOR-LIKE Asterisk 601023 VALOSIN-CONTAINING PROTEIN; VCP CDC48, YEAST, HOMOLOG OF;; p97 Asterisk 601024 ADAPTOR-RELATED PROTEIN COMPLEX 2, MU-1 SUBUNIT; AP2M1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, MEDIUM 1; CLAPM1;; CLATHRIN ADAPTOR PROTEIN 50; AP50;; CLATHRIN ADAPTOR COMPLEX AP2, MU SUBUNIT;; MU-2 Asterisk 601025 ADAPTOR-RELATED PROTEIN COMPLEX 2, BETA-1 SUBUNIT; AP2B1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, BETA-1; CLAPB1;; CLATHRIN ADAPTOR COMPLEX AP2, BETA SUBUNIT;; AP2-BETA;; ADAPTIN, BETA-2 Asterisk 601026 ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-1 SUBUNIT; AP2A1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, ALPHA-1; CLAPA1;; CLATHRIN ADAPTOR COMPLEX AP2, ALPHA SUBUNIT;; AP2-ALPHA;; ADAPTIN, ALPHA NULL 601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES Asterisk 601028 CD47 ANTIGEN; CD47 SURFACE ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 1D8; MER6;; INTEGRIN-ASSOCIATED PROTEIN; IAP;; CD47 GLYCOPROTEIN Asterisk 601029 MESODERM-SPECIFIC TRANSCRIPT, MOUSE, HOMOLOG OF; MEST PATERNALLY EXPRESSED GENE 1; PEG1 Asterisk 601030 RIBONUCLEASE, RNase A FAMILY, 4; RNASE4 Asterisk 601031 RHOPHILIN 1; RHPN1 RHOPHILIN;; RHO GTPase-BINDING PROTEIN 1;; OUTER DENSE FIBER OF SPERM TAILS 5; ODF5;; PKN-RELATED RHO-BINDING PROTEIN Asterisk 601032 PROTEIN KINASE N1; PKN1 PROTEIN KINASE C-RELATED KINASE 1; PRK1;; SERINE/THREONINE PROTEIN KINASE N; PKN;; PKN-ALPHA;; PROTEIN KINASE C-LIKE 1; PRKCL1;; PAK1, RAT, HOMOLOG OF Asterisk 601033 LAMININ, ALPHA-5; LAMA5 KIAA0533;; KIAA1907 Caret 601034 MOVED TO 155735 Asterisk 601035 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H1; HNRNPH1 HNRPH1;; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H Caret 601036 MOVED TO 300610 Asterisk 601037 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN F; HNRNPF HNRPF Asterisk 601038 DEIODINASE, IODOTHYRONINE, TYPE III; DIO3 THYROXINE DEIODINASE, TYPE III; TXDI3;; IODOTHYRONINE DEIODINASE, PLACENTAL TYPE NULL 601039 ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN Asterisk 601040 SCAVENGER RECEPTOR CLASS B, MEMBER 1; SCARB1 CD36 ANTIGEN-LIKE 1; CD36L1;; CD36 AND LIMPII ANALOGOUS 1; CLA1;; SCAVENGER RECEPTOR, CLASS B, TYPE I; SRBI; SRB1 Asterisk 601041 TRANSDUCIN-LIKE ENHANCER OF SPLIT 2; TLE2 ENHANCER OF SPLIT GROUCHO 2; ESG2 Number Sign 601042 DYSTONIA 9; DYT9 CHOREOATHETOSIS/SPASTICITY, EPISODIC;; CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA;; CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY Caret 601043 MOVED TO 600701 Caret 601044 MOVED TO 600701 Asterisk 601045 CATENIN, DELTA-1; CTNND1 CATENIN, DELTA; CTNND;; CADHERIN-ASSOCIATED SRC SUBSTRATE; CAS;; p120(CTN) Asterisk 601046 MATRIX METALLOPROTEINASE 12; MMP12 MACROPHAGE METALLOELASTASE; MME Asterisk 601047 CAVEOLIN 1; CAV1 CAVEOLAE PROTEIN, 22-KD; CAV Asterisk 601048 CAVEOLIN 2; CAV2 CAVEOLAE PROTEIN, 20-KD Caret 601049 MOVED TO 300119 Caret 601050 REMOVED FROM DATABASE Asterisk 601051 MESOTHELIN; MSLN ANTIGEN RECOGNIZED BY MONOCLONAL ANTIBODY K1;; MEGAKARYOCYTE-POTENTIATING FACTOR; MPF;; SOLUBLE MPF/MESOTHELIN-RELATED PROTEIN; SMR Asterisk 601052 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1; PIN1 DODO, DROSOPHILA, HOMOLOG OF; DOD Asterisk 601053 PLEXIN B1; PLXNB1 PLEXIN 5; PLXN5;; TRANSMEMBRANE PROTEIN SEP; SEP Asterisk 601054 PLEXIN A2; PLXNA2 PLEXIN 2; PLXN2;; TRANSMEMBRANE PROTEIN OCT; OCT Asterisk 601055 PLEXIN A1; PLXNA1 PLEXIN 1; PLXN1;; TRANSMEMBRANE PROTEIN NOV; NOV Asterisk 601056 BCL2-RELATED PROTEIN A1; BCL2A1 BCL2-RELATED GENE BFL1; BFL1 Asterisk 601057 PROGRAMMED CELL DEATH 6; PDCD6 APOPTOSIS-LINKED GENE 2; ALG2 Asterisk 601058 H3 HISTONE, FAMILY 3B; H3F3B H3.3B Caret 601059 MOVED TO 146920 Asterisk 601060 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 2; ENPP2 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 2; PDNP2;; PDI-ALPHA;; AUTOTAXIN; ATX;; LYSOPHOSPHOLIPASE D Asterisk 601061 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D2; SNRPD2 Asterisk 601062 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D3; SNRPD3 Asterisk 601063 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE D1; SNRPD1 Asterisk 601064 ZINC FINGER PROTEIN 36-LIKE 1; ZFP36L1 ZFP36-LIKE 1;; EGF-RESPONSE FACTOR 1; ERF1;; BUTYRATE RESPONSE FACTOR 1; BRF1;; B-CELL EARLY RESPONSE GENE, 36-KD; BERG36 Asterisk 601065 ALANYL-tRNA SYNTHETASE; AARS ALARS Asterisk 601066 OXIDASE, CYTOCHROME c, ASSEMBLY 1-LIKE; OXA1L CYTOCHROME c OXIDASE ASSEMBLY 1-LIKE;; OXA1-LIKE GENE Number Sign 601067 USHER SYNDROME, TYPE ID; USH1D USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC, INCLUDED;; USH1D/F, CDH23/PCDH15, DIGENIC, INCLUDED Number Sign 601068 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1 BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 1; BAFME1;; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 1; FCMTE1 Asterisk 601069 ZINC FINGER PROTEIN 239; ZNF239 ZINC FINGER PROTEIN MOK2; MOK2 Asterisk 601070 INTERLEUKIN 15 RECEPTOR, ALPHA; IL15RA Number Sign 601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; NSRD9 AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, INCLUDED; AUNB1, INCLUDED;; AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE, INCLUDED; NSRAN, INCLUDED Number Sign 601072 DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8 DEAFNESS, AUTOSOMAL RECESSIVE 10; DFNB10;; DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8;; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8; NSRD8 Caret 601073 MOVED TO 600737 Asterisk 601074 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 1; CELF1 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1;; CUG-BINDING PROTEIN; CUGBP;; NUCLEAR POLYADENYLATED RNA-BINDING PROTEIN, 50-KD; NAB50;; BRUNO-LIKE 2; BRUNOL2 NULL 601075 APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION Percent 601076 MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACIC SOMITE ANOMALIES; MURCS MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME, TYPE II;; MRKH, TYPE II;; KLIPPEL-FEIL DEFORMITY, CONDUCTIVE DEAFNESS, AND ABSENT VAGINA Asterisk 601077 KERATIN 31, TYPE I; KRT31 K31;; KA25;; KERATIN, HAIR, ACIDIC, 1; KRTHA1;; KERATIN, HARD, TYPE I, 1; HA1 Asterisk 601078 KERATIN 82, TYPE II; KRT82 K82;; KB22;; KERATIN, HAIR, BASIC, 2; KRTHB2;; KERATIN, HARD, TYPE II, 2; HB2 Asterisk 601079 ZINC FINGER-, CCCH DOMAIN-, AND RNA-BINDING MOTIF-CONTAINING SERINE/ARGININE-RICH PROTEIN 1; ZRSR1 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 1; U2AF1RS1 Asterisk 601080 U2 SMALL NUCLEAR RNA AUXILIARY FACTOR 1-LIKE 4; U2AF1L4 U2AF1-LIKE 4;; U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, SMALL SUBUNIT 3; U2AF1RS3;; U2 SMALL NUCLEAR RIBONUCLEOPROTEIN AUXILIARY FACTOR, 26-KD; U2AF26 Asterisk 601081 ATP-BINDING CASSETTE, SUBFAMILY 3, MEMBER 2; ABCD2 ADRENOLEUKODYSTROPHY-LIKE 1; ALDL1;; ADRENOLEUKODYSTROPHY-RELATED; ALDR Asterisk 601082 UBIQUITIN-CONJUGATING ENZYME E2H; UBE2H UBIQUITIN-CONJUGATING ENZYME UBC8, YEAST, HOMOLOG OF;; UBCH2;; GID COMPLEX, SUBUNIT 3; GID3;; GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 3, S. CEREVISIAE, HOMOLOG OF NULL 601083 CD4/CD8 T-CELL RATIO Caret 601084 MOVED TO 606634 Caret 601085 MOVED TO 245570 Percent 601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT Caret 601087 MOVED TO 121210 Number Sign 601088 AYME-GRIPP SYNDROME; AYGRP CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION Asterisk 601089 FORKHEAD BOX F1; FOXF1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 5; FKHL5;; FORKHEAD-RELATED ACTIVATOR 1; FREAC1 Asterisk 601090 FORKHEAD BOX C1; FOXC1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7; FKHL7;; FORKHEAD-RELATED ACTIVATOR 3; FREAC3 Asterisk 601091 FORKHEAD BOX D1; FOXD1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 8; FKHL8;; FORKHEAD-RELATED ACTIVATOR 4; FREAC4 Asterisk 601092 FORKHEAD BOX D4; FOXD4 FORKHEAD-LIKE 9; FKHL9;; FKH-LIKE 9;; FORKHEAD-RELATED ACTIVATOR 5; FREAC5 Asterisk 601093 FORKHEAD BOX I1; FOXI1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 10; FKHL10;; FKH10;; FORKHEAD-RELATED ACTIVATOR 6; FREAC6 Asterisk 601094 FORKHEAD BOX E3; FOXE3 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 12; FKHL12;; FORKHEAD-RELATED ACTIVATOR 8; FREAC8 NULL 601095 HARROD SYNDROME NULL 601096 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC SEMD, MICROMELIC;; DWARFISM, MICROMELIC, WITH CONE EPIPHYSES, METAPHYSEAL DYSPLASIA, AND VERTEBRAL SEGMENTATION DEFECTS Asterisk 601097 PERIPHERAL MYELIN PROTEIN 22; PMP22 GROWTH ARREST-SPECIFIC 3; GAS3 Number Sign 601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C CMT, SLOW NERVE CONDUCTION TYPE C;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1C;; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC; HMSN1C;; HMSN IC Asterisk 601099 SRC-LIKE ADAPTOR; SLA SLAP Asterisk 601100 HEAT SHOCK 70-KD PROTEIN 13; HSPA13 STRESS 70 PROTEIN CHAPERONE, MICROSOME-ASSOCIATED, 60-KD; STCH Percent 601101 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 3; HHT3 Asterisk 601102 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 2; EIF4A2 DDX2B Asterisk 601103 MICROFIBRILLAR-ASSOCIATED PROTEIN 5; MFAP5 MICROFIBRIL-ASSOCIATED GLYCOPROTEIN 2; MAGP2 Number Sign 601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 PSP;; STEELE-RICHARDSON-OLSZEWSKI SYNDROME Asterisk 601105 CATHEPSIN K; CTSK Caret 601106 REMOVED FROM DATABASE Asterisk 601107 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 2; ABCC2 MULTISPECIFIC ORGANIC ANION TRANSPORTER, CANALICULAR; CMOAT;; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; MRP2 Caret 601108 MOVED TO 300283 Asterisk 601109 5-HYDROXYTRYPTAMINE RECEPTOR 6; HTR6 SEROTONIN 5-HT-6 RECEPTOR Number Sign 601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D CDG Id; CDGId;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY; CDGS4, FORMERLY;; CDGS, TYPE IV, FORMERLY Caret 601111 MOVED TO 600941 Asterisk 601112 THIOREDOXIN REDUCTASE 1; TXNRD1 TXNR;; TR1 Asterisk 601113 HEAT-SHOCK 70-KD PROTEIN 4; HSPA4 HSP70 Asterisk 601114 MEMBRANE PROTEIN, PALMITOYLATED 3; MPP3 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 3, FORMERLY; DLG3, FORMERLY Asterisk 601115 GLUTAMATE RECEPTOR, METABOTROPIC, 3; GRM3 MGLUR3 Asterisk 601116 GLUTAMATE RECEPTOR, METABOTROPIC, 8; GRM8 MGLUR8 Asterisk 601117 THIMET OLIGOPEPTIDASE 1; THOP1 TOP Asterisk 601118 CALCIUM-MODULATING CYCLOPHILIN LIGAND; CAMLG CAML Asterisk 601119 CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE PROTEOLYTIC SUBUNIT; CLPP ClpP, E. COLI, HOMOLOG OF; CLPP Asterisk 601120 CADHERIN 5; CDH5 CADHERIN, VASCULAR ENDOTHELIAL, 1;; CADHERIN, VASCULAR ENDOTHELIAL;; VE-CADHERIN Asterisk 601121 PLACENTAL GROWTH FACTOR; PGF PLGF Asterisk 601122 5-HYDROXYTRYPTAMINE RECEPTOR 2B; HTR2B SEROTONIN 5-HT-2B RECEPTOR Asterisk 601123 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 1; ST8SIA1 ALPHA-2,8-SIALYLTRANSFERASE I;; ST8SIA I;; SIALYLTRANSFERASE 8; SIAT8;; ALPHA-N-ACETYLNEURAMINATE: ALPHA-2,8-SIALYLTRANSFERASE;; GANGLIOSIDE GD3 SYNTHASE Asterisk 601124 SEMAPHORIN 3F; SEMA3F SEMAPHORIN III/F;; SEMAPHORIN IV; SEMA4;; SEMAPHORIN K; SEMAK Asterisk 601125 HEXOKINASE 2; HK2 Asterisk 601126 TATA ELEMENT MODULATORY FACTOR 1; TMF1 NULL 601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION Asterisk 601128 H3 HISTONE, FAMILY 3A; H3F3A H3F3;; H3.3A Asterisk 601129 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8; CYP2C8 Asterisk 601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9 Asterisk 601131 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 18; CYP2C18 Asterisk 601132 KINASE SUPPRESSOR OF RAS 1; KSR1 KSR Asterisk 601133 CYTOCHROME P450, SUBFAMILY IIG, POLYPEPTIDE 1; CYP2G1 CYTOCHROME P450, FAMILY II, OLFACTORY-SPECIFIC, 1 Asterisk 601134 OLIGOSACCHARYLTRANSFERASE COMPLEX, CATALYTIC SUBUNIT STT3A; STT3A STT3, S. CEREVISIAE, HOMOLOG OF, A;; INTEGRAL MEMBRANE PROTEIN 1; ITM1;; TRANSMEMBRANE CONSERVED GENE; TMC Asterisk 601135 GASTRULATION BRAIN HOMEOBOX 2; GBX2 GASTRULATION AND BRAIN-SPECIFIC 2 NULL 601136 TRANSSUPPRESSOR OF EXPRESSION 2 TSE2;; ALBUMIN EXTINGUISHER Caret 601137 MOVED TO 601138 NULL 601138 GUANYLATE CYCLASE 2E, PSEUDOGENE; GUCY2EP GUCY2E;; GUANYLYL CYCLASE, MEMBRANE, TYPE E;; GC-E;; GUCY2D, MOUSE, HOMOLOG OF Asterisk 601139 ZINC FINGER PROTEIN 175; ZNF175 ZINC FINGER PROTEIN OTK18; OTK18 Asterisk 601140 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14B; PPP1R14B PHOSPHOLIPASE C, BETA-3, NEIGHBORING GENE OF; PLCB3N;; PNG Asterisk 601141 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 1; KCNAB1 KCNA1B;; KV-BETA-1 Asterisk 601142 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 2; KCNAB2 KCNA2B;; KV-BETA-2 Asterisk 601143 DYNACTIN 1; DCTN1 p150(GLUED), DROSOPHILA, HOMOLOG OF Number Sign 601144 BRUGADA SYNDROME 1; BRGDA1 RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME;; SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME; SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED Asterisk 601145 CYSTATIN B; CSTB STEFIN B; STFB Asterisk 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5 CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 1; CDMP1;; LIPOPOLYSACCHARIDE-ASSOCIATED PROTEIN 4; LAP4;; LPS-ASSOCIATED PROTEIN 4;; BONE MORPHOGENETIC PROTEIN 14; BMP14 Asterisk 601147 GROWTH/DIFFERENTIATION FACTOR 6; GDF6 CARTILAGE-DERIVED MORPHOGENETIC PROTEIN 2; CDMP2 Asterisk 601148 SPERM MITOCHONDRIA-ASSOCIATED CYSTEINE-RICH PROTEIN; SMCP MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP; MCS Asterisk 601149 ISOCITRATE DEHYDROGENASE 3, ALPHA SUBUNIT; IDH3A ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, ALPHA SUBUNIT;; ICDM Asterisk 601150 DEAD/H BOX 11; DDX11 CHL1-RELATED HELICASE GENE 1; CHLR1;; KERATINOCYTE GROWTH FACTOR REGULATED GENE 2; KRG2 Asterisk 601151 DEAD/H BOX 12; DDX12 CHL1-RELATED HELICASE GENE 2; CHLR2 Number Sign 601152 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A HMSN VIA;; NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HMSN6;; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A; CMT6A;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; CMT6 Asterisk 601153 FRAGILE HISTIDINE TRIAD GENE; FHIT AP3A HYDROLASE FRAGILE SITE 3p14.2, INCLUDED; FRA3B, INCLUDED Number Sign 601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA;; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CDCD2 Asterisk 601155 MINOR HISTOCOMPATIBILITY ANTIGEN HA-1; HMHA1 HISTOCOMPATIBILITY (MINOR) HA-1;; HLA-HA1;; KIAA0223 Asterisk 601156 CHEMOKINE, CC MOTIF, LIGAND 11; CCL11 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 11; SCYA11;; SMALL INDUCIBLE CYTOKINE A11;; EOTAXIN Asterisk 601157 DEFENSIN, ALPHA, 4; DEFA4 DEFENSIN 4, CORTICOSTATIN; DEF4;; CORTICOSTATIN HP4 PRECURSOR Asterisk 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8 PROTEIN KINASE, MITOGEN-ACTIVATED, 8; PRKM8;; C-JUN KINASE 1; JNK1;; STRESS-ACTIVATED PROTEIN KINASE JNK1; SAPK1 Asterisk 601159 CHEMOKINE, CC MOTIF, RECEPTOR 1; CCR1 CMKBR1;; CKR1;; MACROPHAGE INFLAMMATORY PROTEIN 1-ALPHA/RANTES RECEPTOR;; HM145 NULL 601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA NULL 601161 TRISOMY 18-LIKE SYNDROME Number Sign 601162 SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES;; SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX Percent 601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL FROSTER SYNDROME Caret 601164 MOVED TO 241080 NULL 601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE Asterisk 601166 G PROTEIN-COUPLED RECEPTOR 15; GPR15 Asterisk 601167 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 1; P2RY1 PURINOCEPTOR P2Y1; P2Y1 Asterisk 601168 DIHYDROPYRIMIDINASE-LIKE 3; DPYSL3 UNC33-LIKE PHOSPHOPROTEIN; ULIP;; DIHYDROPYRIMIDINASE-RELATED PROTEIN 3; DRP3;; COLLAPSIN RESPONSE MEDIATOR PROTEIN 4; CRMP4 Caret 601169 REMOVED FROM DATABASE NULL 601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS Caret 601171 MOVED TO 173321 Asterisk 601172 CHONDROITIN SULFATE PROTEOGLYCAN 4; CSPG4 CHONDROITIN SULFATE PROTEOGLYCAN, MELANOMA-ASSOCIATED; MCSP; MCSPG;; MEL-CSPG;; MSK16;; CHONDROITIN SULFATE PROTEOGLYCAN NG2, RAT, HOMOLOG OF; NG2 Caret 601173 MOVED TO 253600 Caret 601174 MOVED TO 123280 Asterisk 601175 ADP-RIBOSYLATION FACTOR-LIKE 2; ARL2 Asterisk 601176 GLUTAMATE-CYSTEINE LIGASE, MODIFIER SUBUNIT; GCLM GLUTAMATE-CYSTEINE LIGASE, REGULATORY; GLCLR;; GAMMA-GLUTAMYLCYSTEINE SYNTHETASE, REGULATORY SUBUNIT Asterisk 601177 ADP-RIBOSYLATION FACTOR 4; ARF4 ADP-RIBOSYLATION FACTOR 2, FORMERLY; ARF2, FORMERLY Asterisk 601178 CELL CYCLE-ASSOCIATED PROTEIN 1; CAPRIN1 CYTOPLASMIC ACTIVATION- AND PROLIFERATION-ASSOCIATED PROTEIN 1;; CAPRIN 1;; MEMBRANE COMPONENT, CHROMOSOME 11, SURFACE MARKER 1; M11S1;; GPI-ANCHORED MEMBRANE PROTEIN 1; GPIAP1;; GPI-ANCHORED MEMBRANE PROTEIN, 137-KD; GRIP137;; p137GPI;; RNA GRANULE PROTEIN 105; RNG105 Asterisk 601179 RAS-RELATED NUCLEAR PROTEIN; RAN Asterisk 601180 RAN-BINDING PROTEIN 1; RANBP1 HPAII TINY FRAGMENTS LOCUS 9A; HTF9A Asterisk 601181 RAN-BINDING PROTEIN 2; RANBP2 NUP358 Asterisk 601182 ORIGIN RECOGNITION COMPLEX, SUBUNIT 2, S. CEREVISIAE, HOMOLOG OF; ORC2 ORC2-LIKE; ORC2L Asterisk 601183 CYSTEINE-RICH INTESTINAL PROTEIN 2; CRIP2 CYSTEINE-RICH PROTEIN 2; CRP2;; LIM DOMAIN PROTEIN ESP1/CRP2 Asterisk 601184 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 3; DNAJC3 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT, INHIBITOR OF; PRKRI;; PROTEIN KINASE INHIBITOR P58 Asterisk 601185 STANNIOCALCIN 1; STC1 STANNIOCALCIN; STC Number Sign 601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM;; ANOPHTHALMIA/MICROPHTHALMIA AND PULMONARY HYPOPLASIA;; PULMONARY HYPOPLASIA-DIAPHRAGMATIC HERNIA-ANOPHTHALMIA-CARDIAC DEFECT; PDAC;; SPEAR SYNDROME;; MATTHEW-WOOD SYNDROME;; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT; PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, INCLUDED; MCOPCB8, INCLUDED NULL 601187 GURRIERI SYNDROME NULL 601188 SUPPRESSION OF TUMORIGENICITY 12; ST12 PROSTATE ADENOCARCINOMA 1; PAC1 Asterisk 601189 POLYMERASE II, RNA, SUBUNIT L; POLR2L RPB10, S. CEREVISIAE, HOMOLOG OF;; RPB10-BETA, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 7.6-KD SUBUNIT Asterisk 601190 PHOSPHODIESTERASE 6H, cGMP-SPECIFIC, CONE, GAMMA; PDE6H Asterisk 601191 ENHANCER OF RUDIMENTARY, DROSOPHILA, HOMOLOG OF; ERH DROER, DROSOPHILA, HOMOLOG OF Asterisk 601192 PHOSPHOLIPASE A2, GROUP V; PLA2G5 Asterisk 601193 CYSTEINE-RICH SECRETORY PROTEIN 1; CRISP1 ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1 Asterisk 601194 TOLL-LIKE RECEPTOR 1; TLR1 TOLL/INTERLEUKIN 1 RECEPTOR-LIKE; TIL NULL 601195 IRON OVERLOAD IN AFRICA AFRICAN IRON OVERLOAD;; BANTU SIDEROSIS Asterisk 601196 PR DOMAIN-CONTAINING PROTEIN 2; PRDM2 RETINOBLASTOMA PROTEIN-BINDING ZINC FINGER PROTEIN RIZ; RIZ Asterisk 601197 TUBBY, MOUSE, HOMOLOG OF; TUB Number Sign 601198 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1 HYPERCALCIURIC HYPOCALCEMIA;; HYPOCALCEMIA, FAMILIAL HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME, INCLUDED Asterisk 601199 CALCIUM-SENSING RECEPTOR; CASR PARATHYROID CA(2+)-SENSING RECEPTOR 1; PCAR1 Number Sign 601200 PLEUROPULMONARY BLASTOMA; PPB PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME; PPBFTDS Asterisk 601201 METHYLATION MODIFIER FOR CLASS I HLA MEMO1 Percent 601202 CATARACT 24; CTRCT24 CATARACT 24, ANTERIOR POLAR;; CATARACT, ANTERIOR POLAR, 2; CTAA2 Asterisk 601203 INTERLEUKIN 1 RECEPTOR-LIKE 1; IL1RL1 GROWTH STIMULATION-EXPRESSED GENE, MOUSE, HOMOLOG OF;; ST2, MOUSE, HOMOLOG OF; ST2;; INTERLEUKIN 33 RECEPTOR; IL33R Asterisk 601204 PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR; PTGFRN FP REGULATORY PROTEIN; FPRP;; CD9 PARTNER 1; CD9P1 Asterisk 601205 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; SIX1 Asterisk 601206 POU DOMAIN, CLASS 2, ASSOCIATING FACTOR 1; POU2AF1 OCT-BINDING FACTOR 1; OBF1;; BOB1;; OCAB Asterisk 601207 DIACYLGLYCEROL KINASE, THETA, 110-KD; DGKQ DIACYLGLYCEROL KINASE, DELTA, 110-KD, FORMERLY; DAGK4, FORMERLY;; DGK-DELTA, FORMERLY Percent 601208 DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11 INSULIN-DEPENDENT DIABETES MELLITUS 11 Asterisk 601209 POLY(rC)-BINDING PROTEIN 1; PCBP1 Asterisk 601210 POLY(rC)-BINDING PROTEIN 2; PCBP2 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN E2; HNRNPE2;; HNRPE2 Asterisk 601211 ADHESION G PROTEIN-COUPLED RECEPTOR E5; ADGRE5 CD97 ANTIGEN; CD97 Asterisk 601212 PROTEIN-TYROSINE KINASE 2, BETA; PTK2B PROLINE-RICH TYROSINE KINASE 2; PYK2;; FOCAL ADHESION KINASE 2; FAK2;; CELL ADHESION KINASE, BETA; CAKB Asterisk 601213 RIBONUCLEASE 4 INHIBITOR; RNS4I RNase L INHIBITOR;; ATP-BINDING CASSETTE, SUBFAMILY E, MEMBER 1; ABCE1 Number Sign 601214 NAXOS DISEASE; NXD CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES;; MAL DE NAXOS;; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY;; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES;; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR Asterisk 601215 ATR GENE; ATR ATAXIA-TELANGIECTASIA AND RAD3-RELATED;; FRAP-RELATED PROTEIN 1; FRP1 Number Sign 601216 DENTAL ANOMALIES AND SHORT STATURE; DASS VERLOES-BOURGUIGNON SYNDROME; VBS;; PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA;; TOOTH AGENESIS, SELECTIVE, 6, FORMERLY; STHAG6, FORMERLY NULL 601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM Asterisk 601218 ADENOSINE DEAMINASE, RNA-SPECIFIC, B1; ADARB1 ADENOSINE DEAMINASE, RNA-SPECIFIC, 2; ADAR2;; RNA-EDITING ENZYME 1, RAT, HOMOLOG OF; RED1;; RNA EDITASE 1 Caret 601219 MOVED TO 182390 NULL 601220 OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH NULL 601221 TISSUE-SPECIFIC EXTINGUISHER 3 TSE3 Caret 601222 MOVED TO 185900 NULL 601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B NID B Number Sign 601224 POTOCKI-SHAFFER SYNDROME PSS;; CHROMOSOME 11p11.2 DELETION SYNDROME;; PROXIMAL 11p DELETION SYNDROME; P11pDS;; DEFECT11 SYNDROME Asterisk 601225 DISHEVELLED 1-LIKE 1; DVL1L1 DISHEVELLED, DROSOPHILA, HOMOLOG-LIKE;; DSH Caret 601226 MOVED TO 601227 Caret 601227 MOVED TO 157640 Number Sign 601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 CHROMOSOME 15q13-q14 DUPLICATION SYNDROME, 40-KB;; COLORECTAL ADENOMA AND CARCINOMA 1; CRAC1 COLORECTAL CANCER, SUSCEPTIBILITY TO, 4, INCLUDED; CRCS4, INCLUDED;; COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15, INCLUDED Caret 601229 MOVED TO 151430 NULL 601230 DERMATITIS HERPETIFORMIS, FAMILIAL DH Asterisk 601231 MECHANISTIC TARGET OF RAPAMYCIN; MTOR MAMMALIAN TARGET OF RAPAMYCIN;; FKBP12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1; FRAP1;; FK506-BINDING PROTEIN 12-RAPAMYCIN COMPLEX-ASSOCIATED PROTEIN 1;; FRAP;; FRAP2;; RAFT1 MTOR COMPLEX, INCLUDED; MTORC, INCLUDED;; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 1, INCLUDED; MTORC1, INCLUDED;; MECHANISTIC TARGET OF RAPAMYCIN COMPLEX 2, INCLUDED; MTORC2, INCLUDED Asterisk 601232 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, GAMMA; PIK3CG PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, GAMMA;; p110-GAMMA;; PI3K-GAMMA;; PIK3-GAMMA;; p120-PI3K Asterisk 601233 INHIBIN, BETA C; INHBC Asterisk 601234 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE; NACA SKELETAL MUSCLE NACA, INCLUDED; SKNAC, INCLUDED Asterisk 601235 DEAD/H BOX 10; DDX10 DDX10/NUP98 FUSION GENE, INCLUDED Asterisk 601236 DISABLED, DROSOPHILA, HOMOLOG OF, 2; DAB2 DIFFERENTIALLY EXPRESSED IN OVARIAN CANCER 2; DOC2 Asterisk 601237 RING FINGER PROTEIN 112; RNF112 ZINC FINGER PROTEIN 179; ZNF179;; BRAIN FINGER PROTEIN, MOUSE, HOMOLOG OF; BFP;; NEUROLASTIN Number Sign 601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY Asterisk 601239 DYSTROBREVIN, ALPHA; DTNA DYSTROBREVIN;; DYSTROPHIN-RELATED PROTEIN 3; DRP3;; D18S892E Asterisk 601240 GUANIDINOACETATE METHYLTRANSFERASE; GAMT Asterisk 601241 HISTONE DEACETYLASE 1; HDAC1 HD1;; REDUCED POTASSIUM DEPENDENCY 3, YEAST, HOMOLOG-LIKE 1; RPD3L1;; RPD3-LIKE 1 Asterisk 601242 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, ALPHA; MAP1LC3A MICROTUBULE-ASSOCIATED PROTEINS 1A AND 1B, LIGHT CHAIN 3;; MAP1ALC3;; MAP1BLC3;; LC3A;; LC3 Asterisk 601243 TOPOISOMERASE, DNA, III, ALPHA; TOP3A TOPOISOMERASE, DNA, III; TOP3;; TOPO III-ALPHA Asterisk 601244 GUANYLATE CYCLASE 1, SOLUBLE, ALPHA-2; GUCY1A2 GUC1A2;; GUANYLYL CYCLASE, SOLUBLE, ALPHA-2;; GUANYLYL CYCLASE, NITRIC OXIDE-SENSITIVE, ALPHA-2 SUBUNIT;; NITRIC OXIDE-SENSITIVE GUANYLYL CYCLASE, ALPHA-2 SUBUNIT;; NOGC, ALPHA-2 SUBUNIT Asterisk 601245 CHROMATIN ASSEMBLY FACTOR I, SUBUNIT B; CHAF1B CHROMATIN ASSEMBLY FACTOR I, p60 SUBUNIT; CAF1P60;; CAF1A Asterisk 601246 CHROMATIN ASSEMBLY FACTOR I, SUBUNIT A; CHAF1A CHROMATIN ASSEMBLY FACTOR I, p150 SUBUNIT; CAF1P150;; CAF1B Asterisk 601247 SON OF SEVENLESS, DROSOPHILA, HOMOLOG 2; SOS2 Asterisk 601248 BRIDGING INTEGRATOR 1; BIN1 AMPHIPHYSIN II; AMPH2;; BOX-DEPENDENT MYC-INTERACTING PROTEIN 1;; AMPHIPHYSIN-LIKE, FORMERLY; AMPHL, FORMERLY Asterisk 601249 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 1; PRPSAP1 PAP39 Asterisk 601250 PEPTIDE METHIONINE SULFOXIDE REDUCTASE; MSRA Caret 601251 MOVED TO 601777 Asterisk 601252 FICOLIN 1; FCN1 COLLAGEN/FIBRINOGEN DOMAIN-CONTAINING LECTIN 1 P35-LIKE;; FICOLIN B, MOUSE, HOMOLOG OF; FCNB Asterisk 601253 CAVEOLIN 3; CAV3 M-CAVEOLIN Asterisk 601254 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 6; MAP2K6 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 6; PRKMK6;; MKK6; MAPKK6;; MAPK/ERK KINASE 6; MEK6 Asterisk 601255 KINESIN FAMILY MEMBER 1A; KIF1A AXONAL TRANSPORTER OF SYNAPTIC VESICLES; ATSV;; UNC104, C. ELEGANS, HOMOLOG OF; UNC104;; KINESIN, HEAVY CHAIN, MEMBER 1A, MOUSE, HOMOLOG OF Caret 601256 MOVED TO 106165 Asterisk 601257 DEAD/H BOX 1; DDX1 Asterisk 601258 CYTOCHROME P450, SUBFAMILY IIJ, POLYPEPTIDE 2; CYP2J2 CYTOCHROME P450 ARACHIDONIC ACID EPOXYGENASE Asterisk 601259 AMELOBLASTIN ENAMEL MATRIX PROTEIN; AMBN Asterisk 601260 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 1; ZKSCAN1 ZINC FINGER PROTEIN 36; ZNF36;; ZINC FINGER PROTEIN, KRUPPEL TYPE, 18; KOX18;; ZINC FINGER PROTEIN 139, FORMERLY; ZNF139, FORMERLY Asterisk 601261 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 21; ZSCAN21 ZINC FINGER PROTEIN 38; ZNF38;; ZINC FINGER PROTEIN, KRUPPEL TYPE, 25; KOX25 Asterisk 601262 ZINC FINGER PROTEIN 16; ZNF16 ZINC FINGER PROTEIN, KRUPPEL TYPE, 9; KOX9 Asterisk 601263 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2; MAP2K2 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 2; PRKMK2;; MKK2; MAPKK2;; MAPK/ERK KINASE 2; MEK2 Caret 601264 MOVED TO 601271 Asterisk 601265 NODAL, MOUSE, HOMOLOG OF; NODAL Asterisk 601266 dUTP PYROPHOSPHATASE; DUT DEOXYURIDINE TRIPHOSPHATE NUCLEOTIDOHYDROLASE;; DEOXYURIDINE TRIPHOSPHATASE;; dUTPase Asterisk 601267 CHEMOKINE, CC MOTIF, RECEPTOR 2; CCR2 CMKBR2;; CKR2;; MONOCYTE CHEMOTACTIC PROTEIN 1 RECEPTOR;; MCP1 RECEPTOR CCR2A, INCLUDED; CKR2A, INCLUDED;; CCR2B, INCLUDED; CKR2B, INCLUDED Asterisk 601268 CHEMOKINE, CC MOTIF, RECEPTOR 3; CCR3 CMKBR3;; CKR3;; EOTAXIN RECEPTOR Asterisk 601269 COMPLEMENT COMPONENT C1q-BINDING PROTEIN; C1QBP C1q GLOBULAR DOMAIN-BINDING PROTEIN;; GLOBULAR DOMAIN OF C1q, RECEPTOR FOR; GC1qR;; HYALURONIC ACID-BINDING PROTEIN 1; HABP1;; P32 SPLICING FACTOR SF2-ASSOCIATED PROTEIN Asterisk 601270 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 3; CYP4F3 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 3;; LEUKOTRIENE B4 OMEGA-HYDROXYLASE; LTB4H;; LTB4 OMEGA-HYDROXYLASE Asterisk 601271 GUANYLATE CYCLASE ACTIVATOR 2B; GUCA2B UROGUANYLIN; UGN;; GUANYLATE CYCLASE C ACTIVATING PEPTIDE II;; GCAP II Asterisk 601272 SORTING NEXIN 1; SNX1 SORTING NEXIN 1A, INCLUDED; SNX1A, INCLUDED Asterisk 601273 CLATHRIN, HEAVY POLYPEPTIDE-LIKE 1; CLTCL1 CLATHRIN, HEAVY POLYPEPTIDE D; CLTD;; CLH22;; CHC22 Asterisk 601274 PROSTAGLANDIN REDUCTASE 1; PTGR1 LEUKOTRIENE B4 12-HYDROXYDEHYDROGENASE; LTB4DH Asterisk 601275 GLYCOPROTEIN M6A; GPM6A NEURONAL MEMBRANE GLYCOPROTEIN M6A Asterisk 601276 ZINC FINGER PROTEIN 177; ZNF177 KRAB ZINC FINGER PROTEIN 177 Number Sign 601277 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A ICHTHYOSIS CONGENITA IIB; ICR2B;; ICHTHYOSIS, LAMELLAR, 2, FORMERLY; LI2, FORMERLY Asterisk 601278 FSHD REGION GENE 1; FRG1 Asterisk 601279 DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6 Asterisk 601280 MAB21, C. ELEGANS, HOMOLOG-LIKE 1; MAB21L1 CAGR1 Asterisk 601281 SEMAPHORIN 3B; SEMA3B SEMAPHORIN A; SEMAA;; SEMAPHORIN V; SEMA5 Asterisk 601282 PLECTIN; PLEC PLEC1;; PCN; PLTN Number Sign 601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1 NONINSULIN-DEPENDENT DIABETES MELLITUS 1 Asterisk 601284 ACTIVIN A RECEPTOR, TYPE II-LIKE 1; ACVRL1 ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 1; ACVRLK1;; ACTIVIN RECEPTOR-LIKE KINASE 1; ALK1 Asterisk 601285 PROTEASOME 26S SUBUNIT SEM1; SEM1 DELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGION; DSS1 Caret 601286 MOVED TO 115700 Number Sign 601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6; LGMDR6 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F Asterisk 601288 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ZETA ISOFORM; YWHAZ BRAIN PROTEIN 14-3-3, ZETA ISOFORM;; 14-3-3-ZETA Asterisk 601289 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, BETA ISOFORM; YWHAB BRAIN PROTEIN 14-3-3, BETA ISOFORM;; 14-3-3-BETA Asterisk 601290 STRATIFIN; SFN 14-3-3-SIGMA Asterisk 601291 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 8; UGT8 UDP GLYCOSYLTRANSFERASE 8;; UDP-GALACTOSE CERAMIDE GALACTOSYLTRANSFERASE; CGT;; CEREBROSIDE SYNTHASE Asterisk 601292 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 2; SULT1A2 SULFOTRANSFERASE, PHENOL-PREFERRING 2; STP2;; PHENOL SULFOTRANSFERASE 2 Asterisk 601293 RAS HOMOLOG ENRICHED IN BRAIN; RHEB RAS HOMOLOG ENRICHED IN BRAIN 2, FORMERLY; RHEB2, FORMERLY Caret 601294 REMOVED FROM DATABASE Asterisk 601295 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 2; SLC10A2 SODIUM/TAUROCHOLATE COTRANSPORTING POLYPEPTIDE, ILEAL; NTCP2;; ILEAL SODIUM/BILE SALT TRANSPORTER; ISBT;; APICAL SODIUM/BILE SALT TRANSPORTER; ASBT;; APICAL SODIUM-DEPENDENT BILE ACID TRANSPORTER Asterisk 601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK RECEPTOR TYROSINE KINASE NSK2, MOUSE, HOMOLOG OF; NSK2 Asterisk 601297 SRY-BOX 15; SOX15 SOX20;; SOX26;; SOX27 Caret 601298 MOVED TO 102576 Asterisk 601299 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA; BMPR1A ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3; ACVRLK3;; ACTIVIN RECEPTOR-LIKE KINASE 3; ALK3 Asterisk 601300 ACTIVIN A RECEPTOR, TYPE IB; ACVR1B ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 4; ACVRLK4;; ACTIVIN RECEPTOR-LIKE KINASE 4; ALK4 Asterisk 601301 PEPTIDYL-PROLYL ISOMERASE-LIKE 1; PPIL1 CYCLOPHILIN-RELATED GENE 1; CYPL1 Asterisk 601302 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, ALPHA; PPP3R1 CALCINEURIN B, TYPE 1; CNB1;; CNB Asterisk 601303 CYTOSKELETON-ASSOCIATED PROTEIN 1; CKAP1 CKAPI Asterisk 601304 SMALL NUCLEAR RIBONUCLEOPROTEIN (U4/U6.U5), SNU13 HOMOLOG; SNU13 NON-HISTONE CHROMOSOME PROTEIN 2, S. CEREVISIAE, HOMOLOG-LIKE 1; NHP2L1;; NHP2-LIKE PROTEIN 1;; U4/U6-15.5K PROTEIN;; 15.5K Asterisk 601305 5-HYDROXYTRYPTAMINE RECEPTOR 5A; HTR5A SEROTONIN 5-HT-5A RECEPTOR Asterisk 601306 HEMATOPOIETIC CELL-SPECIFIC LYN SUBSTRATE 1; HCLS1 HS1 Caret 601307 MOVED TO 600924 Percent 601308 MYELOID TUMOR SUPPRESSOR MYELOID LEUKEMIA-RELATED LOCUS; MLRL Asterisk 601309 PATCHED, DROSOPHILA, HOMOLOG OF, 1; PTCH1 PTCH;; PTC Asterisk 601310 CYTOCHROME P450, SUBFAMILY IVA, POLYPEPTIDE 11; CYP4A11 OMEGA-HYDROXYLASE, FATTY ACID;; CYP4AII Asterisk 601311 STEROL O-ACYLTRANSFERASE 2; SOAT2 ACYL-CoA:CHOLESTEROL ACYLTRANSFERASE 2; ACACT2;; ACAT2 Caret 601312 MOVED TO 600408 Asterisk 601313 POLYCYSTIN 1; PKD1 PKD1 GENE;; PBP Asterisk 601314 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1; HINT1 HINT;; PROTEIN KINASE C INHIBITOR 1; PRKCNH1;; PROTEIN KINASE C-INTERACTING PROTEIN 1; PKCI1 NULL 601315 EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG OF EBCR Number Sign 601316 DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10 Number Sign 601317 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11 Percent 601318 DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13 INSULIN-DEPENDENT DIABETES MELLITUS 13 NULL 601319 ODONTOMICRONYCHIAL DYSPLASIA ECTODERMAL DYSPLASIA, NAIL/TOOTH TYPE Caret 601320 MOVED TO 601984 Number Sign 601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS NOONAN-NEUROFIBROMATOSIS SYNDROME;; NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE NULL 601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS Asterisk 601323 NUCLEOBINDIN 1; NUCB1 NUC Asterisk 601324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D; HNRNPD HNRPD;; AU-RICH ELEMENT RNA-BINDING PROTEIN 1, 37-KD; AUF1;; ARE-BINDING PROTEIN AUF1, TYPE A; AUF1A Asterisk 601325 CONTACTIN 3; CNTN3 PLASMACYTOMA-ASSOCIATED NEURONAL GLYCOPROTEIN; PANG;; BIG1, RAT, HOMOLOG OF; BIG1 Asterisk 601326 CLAUDIN 11; CLDN11 OLIGODENDROCYTE TRANSMEMBRANE PROTEIN; OTM;; OLIGODENDROCYTE-SPECIFIC PROTEIN; OSP Asterisk 601327 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, BETA SUBUNIT; SCN2B SODIUM CHANNEL, NEURONAL TYPE II, BETA SUBUNIT;; SODIUM CHANNEL, VOLTAGE-GATED, BETA-2 SUBUNIT Asterisk 601328 SODIUM CHANNEL, NONVOLTAGE-GATED 1, DELTA SUBUNIT; SCNN1D SODIUM CHANNEL, EPITHELIAL, DELTA SUBUNIT; SCNED Asterisk 601329 LIM DOMAIN KINASE 1; LIMK1 LIMK;; LIM KINASE Asterisk 601330 GUANYLATE CYCLASE 2C; GUCY2C GUANYLYL CYCLASE 2C; GUC2C;; HEAT-STABLE ENTEROTOXIN RECEPTOR Number Sign 601331 RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD Asterisk 601332 MOHAWK HOMEOBOX; MKX IROQUOIS FAMILY-RELATED HOMEODOMAIN PROTEIN; IFRX;; IROQUOIS HOMEOBOX-LIKE 1; IRXL1 Asterisk 601333 SUPPRESSOR OF TY 6, S. CEREVISIAE, HOMOLOG OF; SUPT6H CHROMATIN STRUCTURE REGULATOR, YEAST, HOMOLOG OF; SPT6 Asterisk 601334 KINESIN LIGHT CHAIN 3; KLC3 KINESIN LIGHT CHAIN 2-LIKE; KLC2L;; KNS2B Asterisk 601335 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 4; MAP2K4 SAPK/ERK KINASE 1; SERK1; SEK1;; PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 4; PRKMK4;; MKK4; MAPKK4;; MAPK/ERK KINASE 4; MEK4;; JNK-ACTIVATED KINASE 1; JNKK1 Asterisk 601336 MANNOSYL-OLIGOSACCHARIDE GLYCOSIDASE; MOGS GLUCOSIDASE I; GCS1 Asterisk 601337 REGULATORY FACTOR X, 3; RFX3 Number Sign 601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS Caret 601339 MOVED TO 601112 Asterisk 601340 MELANOMA INHIBITORY ACTIVITY PROTEIN; MIA CARTILAGE-DERIVED RETINOIC ACID-SENSITIVE PROTEIN; CDRAP NULL 601341 ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC VARIOLIFORM MACULAR ATROPHY OF THE SKIN Asterisk 601342 CHROMOSOME SEGREGATION 1-LIKE; CSE1L CELLULAR APOPTOSIS SUSCEPTIBILITY; CAS;; CHROMOSOME SEGREGATION GENE CSE1, YEAST, HOMOLOG OF;; CSE1, YEAST, HOMOLOG OF Caret 601343 MOVED TO 276821 NULL 601344 SPINAL DYSPLASIA, ANHALT TYPE NULL 601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE ECTODERMAL DYSPLASIA, HAIR/TOOTH TYPE Percent 601346 MARTINEZ-FRIAS SYNDROME PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA, WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA NULL 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY NULL 601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA Percent 601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8 MICROCEPHALY, MICROPHTHALMIA, ECTRODACTYLY OF LOWER LIMBS, AND PROGNATHISM; MMEP NULL 601350 SHORT STATURE SYNDROME, BRUSSELS TYPE NULL 601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION NULL 601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE Percent 601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION FINE-LUBINSKY SYNDROME Caret 601354 MOVED TO 300166 NULL 601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS Percent 601356 LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE Percent 601357 BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS Number Sign 601358 NICOLAIDES-BARAITSER SYNDROME; NCBRS SPARSE HAIR AND MENTAL RETARDATION;; NBS Caret 601359 MOVED TO 163200 NULL 601360 AMELIA, AUTOSOMAL RECESSIVE Asterisk 601361 GROWTH/DIFFERENTIATION FACTOR 10; GDF10 BONE MORPHOGENETIC PROTEIN 3B; BMP3B Percent 601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME COMPLEX 2 DGS2 Percent 601363 WILMS TUMOR 4; WT4 FAMILIAL WILMS TUMOR 1; FWT1 Asterisk 601364 CADHERIN 13; CDH13 H-CADHERIN; CDHH;; CADHERIN, HEART;; T-CADHERIN Asterisk 601365 DISHEVELLED 1; DVL1 DSH, DROSOPHILA, HOMOLOG OF, 1; DVL Asterisk 601366 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 2; SMAD2 MADH2;; SMA- AND MAD-RELATED PROTEIN 2 MAD, DROSOPHILA, HOMOLOG OF;; MADR2 Number Sign 601367 STROKE, ISCHEMIC CEREBROVASCULAR ACCIDENT;; CEREBRAL INFARCTION Asterisk 601368 DISHEVELLED 3; DVL3 Number Sign 601369 DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9 NULL 601370 HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS GENOA SYNDROME NULL 601371 CATARACT, AGE-RELATED NUCLEAR NUCLEAR SCLEROSIS OF THE LENS NULL 601372 CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT Asterisk 601373 CHEMOKINE, CC MOTIF, RECEPTOR 5; CCR5 CC CHEMOKINE RECEPTOR 5; CCCKR5;; CMKBR5;; CKR5 NULL 601374 APROSENCEPHALY AND CEREBELLAR DYSGENESIS NULL 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE NULL 601376 CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY Caret 601377 MOVED TO 218340 Caret 601378 MOVED TO 272430 NULL 601379 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME Asterisk 601380 EPHRIN A4; EFNA4 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 4; EPLG4;; LIGAND OF EPH-RELATED KINASE 4; LERK4;; EFL4 Asterisk 601381 EPHRIN A3; EFNA3 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 3; EPLG3;; LIGAND OF EPH-RELATED KINASE 3; LERK3;; EFL2;; EHK1 LIGAND; EHK1L Number Sign 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B1;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B; CMT4B Asterisk 601383 AQUAPORIN 6; AQP6 AQUAPORIN 2-LIKE, KIDNEY SPECIFIC; AQP2L Asterisk 601384 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS E; LY6E RETINOIC ACID-INDUCED GENE E; RIGE;; THYMIC SHARED ANTIGEN 1; TSA1 Asterisk 601385 TUMOR SUPPRESSOR CANDIDATE 3; TUSC3 PUTATIVE PROSTATE CANCER TUMOR SUPPRESSOR;; N33;; D8S1992 Number Sign 601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 Asterisk 601387 TUMOR SUSCEPTIBILITY GENE 101; TSG101 VACUOLAR PROTEIN SORTING 23, YEAST, HOMOLOG OF; VPS23 Number Sign 601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 INSULIN-DEPENDENT DIABETES MELLITUS 12 NULL 601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION Number Sign 601390 VAN MALDERGEM SYNDROME 1; VMLDS1 CEREBROFACIOARTICULAR SYNDROME Asterisk 601391 CHEMOKINE, CC MOTIF, LIGAND 13; CCL13 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 13; SCYA13;; NEW CC CHEMOKINE 1; NCC1;; MONOCYTE CHEMOTACTIC PROTEIN 4; MCP4 Asterisk 601392 CHEMOKINE, CC MOTIF, LIGAND 14; CCL14 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 14; SCYA14;; NEW CC CHEMOKINE 2; NCC2;; HEMOFILTRATE CC CHEMOKINE 1; HCC1 Asterisk 601393 CHEMOKINE, CC MOTIF, LIGAND 15; CCL15 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 15; SCYA15;; LEUKOTACTIN 1; LKN1;; NEW CC CHEMOKINE 3; NCC3;; HCC2;; MACROPHAGE INFLAMMATORY PROTEIN 5; MIP5 Asterisk 601394 CHEMOKINE, CC MOTIF, LIGAND 16; CCL16 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 16; SCYA16;; NEW CC CHEMOKINE 4; NCC4;; LIVER-EXPRESSED CHEMOKINE; LEC;; HEMOFILTRATE CC CHEMOKINE 4; HCC4;; LYMPHOCYTE AND MONOCYTE CHEMOATTRACTANT; LMC Asterisk 601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1; CCL3L1 LD78-BETA;; MACROPHAGE INFLAMMATORY PROTEIN 1-ALPHA-P;; MIP1-ALPHA-P; MIP1AP;; SMALL INDUCIBLE CYTOKINE A3-LIKE 1; SCYA3L1;; G0S19-2 Asterisk 601396 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8B; WNT8B Asterisk 601397 T-BOX TRANSCRIPTION FACTOR T; TBXT T BRACHYURY, MOUSE, HOMOLOG OF; T;; TRANSCRIPTION FACTOR T; TFT Asterisk 601398 VASCULAR ENDOTHELIAL GROWTH FACTOR B; VEGFB VASCULAR ENDOTHELIAL GROWTH FACTOR-RELATED FACTOR; VRF Number Sign 601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM PLATELET DISORDER, ASPIRIN-LIKE;; THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA; FPD/AML Caret 601400 MOVED TO 275355 Asterisk 601401 MYELOID LEUKEMIA FACTOR 2; MLF2 MYELODYSPLASIA-MYELOID LEUKEMIA FACTOR 2 Asterisk 601402 MYELOID LEUKEMIA FACTOR 1; MLF1 MYELODYSPLASIA-MYELOID LEUKEMIA FACTOR 1 Asterisk 601403 DEDICATOR OF CYTOKINESIS 1; DOCK1 DOWNSTREAM OF CRK; DOCK;; DOWNSTREAM OF CRK, 180-KD; DOCK180;; CED5, C. ELEGANS, HOMOLOG OF Asterisk 601404 G PROTEIN-COUPLED RECEPTOR 68; GPR68 OVARIAN CANCER G PROTEIN-COUPLED RECEPTOR 1; OGR1 Asterisk 601405 CHYMOTRYPSIN C; CTRC CALDECRIN; CLCR Asterisk 601406 B-CELL CLL/LYMPHOMA 7A; BCL7A B-CELL CLL/LYMPHOMA 7; BCL7 Percent 601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2 NONINSULIN-DEPENDENT DIABETES MELLITUS 2 Asterisk 601408 LYSINE ACETYLTRANSFERASE 6A; KAT6A HISTONE ACETYLTRANSFERASE MYST3; MYST3;; ZINC FINGER PROTEIN 220; ZNF220;; MONOCYTIC LEUKEMIA ZINC FINGER PROTEIN; MOZ MOZ/CBP FUSION GENE, INCLUDED;; MOZ/TIF2 FUSION GENE, INCLUDED Asterisk 601409 LYSINE ACETYLTRANSFERASE 5; KAT5 HIV-1 TAT-INTERACTING PROTEIN; HTATIP;; TAT-INTERACTING PROTEIN, 60-KD; TIP60;; ESA1, S. CEREVISIAE, HOMOLOG OF; ESA1 PLA2-INTERACTING PROTEIN, INCLUDED; PLIP, INCLUDED Number Sign 601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1; TNDM1 6q24-RELATED DIABETES MELLITUS;; TNDM;; DMTN Asterisk 601411 SARCOGLYCAN, DELTA; SGCD Percent 601412 DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7 Asterisk 601413 DEIODINASE, IODOTHYRONINE, TYPE II; DIO2 THYROXINE DEIODINASE, TYPE II; TXDI2;; D2 Number Sign 601414 RETINITIS PIGMENTOSA 18; RP18 Asterisk 601415 V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 2; MYBL2 MYB-RELATED GENE BMYB Asterisk 601416 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 7; SLC39A7 KE4, MOUSE, HOMOLOG OF; HKE4;; D6S2244E Asterisk 601417 17-BETA-HYDROXYSTEROID DEHYDROGENASE VIII; HSD17B8 FabG-LIKE; FABGL;; FabG, E. COLI, HOMOLOG OF;; KE6, MOUSE, HOMOLOG OF;; HKE6;; D6S2245E;; 3-OXOACYL-ACYL CARRIER PROTEIN REDUCTASE, E. COLI, HOMOLOG OF Asterisk 601418 RIBOSOME BINDING PROTEIN 1; RRBP1 EXTRACELLULAR MATRIX GLYCOPROTEIN ES/130, CHICKEN, HOMOLOG OF; ES130 Number Sign 601419 MYOPATHY, MYOFIBRILLAR, 1; MFM1 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED;; DESMINOPATHY, PRIMARY;; DESMIN-RELATED MYOPATHY; DRM;; MYOFIBRILLAR MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY;; DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY;; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7, FORMERLY; ARVD7, FORMERLY;; ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 7, FORMERLY; ARVC7, FORMERLY;; INCLUSION BODY MYOPATHY 1, AUTOSOMAL DOMINANT, FORMERLY; IBM1, FORMERLY;; CARDIOMYOPATHY, DILATED, 1F AND LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D, FORMERLY;; CMD1F AND LGMD1D, FORMERLY;; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT AND MUSCULAR DYSTROPHY; CDCD3, FORMERLY;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FORMERLY; LGMD2R, FORMERLY NULL 601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE Asterisk 601421 LYSYL-tRNA SYNTHETASE; KARS KRS Asterisk 601422 LEUCINE ZIPPER PROTEIN 1; LUZP1 LUZP Asterisk 601423 THYMINE-DNA GLYCOSYLASE; TDG Asterisk 601424 3-OXOACID CoA TRANSFERASE 1; OXCT1 OXCT;; SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE; SCOT Asterisk 601425 TRANSCRIPTION ELONGATION FACTOR A, 1; TCEA1 TCEA;; TFIIS; TF2S;; SII Asterisk 601426 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 2; NR2C2 NUCLEAR HORMONE RECEPTOR TR4 TESTICULAR NUCLEAR RECEPTOR 4; TR4;; TAK1 NULL 601427 ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS Asterisk 601428 RNA, U4ATAC SMALL NUCLEAR; RNU4ATAC RNA, U4, SMALL NUCLEAR, AT-AC FORM; U4ATAC Asterisk 601429 RNA, U6ATAC SMALL NUCLEAR; RNU6ATAC RNA, U6, SMALL NUCLEAR, AT-AC FORM; U6ATAC Asterisk 601430 UPF1, YEAST, HOMOLOG OF; UPF1 HUPF1;; REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1 Asterisk 601431 TRANSFER RNA ALANINE 1; TRNAA1 tRNA ALANINE Asterisk 601432 TRANSFER RNA ARGININE 3; TRNAR3 tRNA ARGININE 3; TRR3 Caret 601433 MOVED TO 180621 Asterisk 601434 S-PHASE KINASE-ASSOCIATED PROTEIN 1; SKP1 S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A;; CDK2/CYCLIN A-ASSOCIATED PROTEIN p19A;; ORGAN OF CORTI PROTEIN 2; OCP2;; TRANSCRIPTION ELONGATION FACTOR B, 1-LIKE; TCEB1L Asterisk 601435 S-PHASE KINASE-ASSOCIATED PROTEIN 1 PSEUDOGENE 2; SKP1P2 S-PHASE KINASE-ASSOCIATED PROTEIN 1B; SKP1B;; CDK2/CYCLIN A-ASSOCIATED PROTEIN p19B Asterisk 601436 S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2 CDK2/CYCLIN A-ASSOCIATED PROTEIN p45;; F-BOX AND LEUCINE-RICH REPEAT PROTEIN 1; FBXL1; FBL1 Asterisk 601437 Fc FRAGMENT OF IgG, RECEPTOR TRANSPORTER, ALPHA; FCGRT IMMUNOGLOBULIN RECEPTOR, INTESTINAL, HEAVY CHAIN NULL 601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE Asterisk 601439 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9 SULFONYLUREA RECEPTOR 2; SUR2 Asterisk 601440 DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE DGK-EPSILON Asterisk 601441 DIACYLGLYCEROL KINASE, ZETA, 104-KD: DGKZ DGK-ZETA Asterisk 601442 COFILIN 1; CFL1 COFILIN, NONMUSCLE Asterisk 601443 COFILIN 2; CFL2 COFILIN, MUSCLE Asterisk 601444 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 1; BLOC1S1 BLOC1, SUBUNIT 1; BLOS1;; GCN5-LIKE 1; GCN5L1 Asterisk 601445 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9; NDUFB9 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT B22; UQOR22 Caret 601446 MOVED TO 300707 Asterisk 601447 UBIQUITIN-SPECIFIC PROTEASE 5; USP5 ISOPEPTIDASE T; ISOT Asterisk 601448 NUCLEAR PROTEIN, ATAXIA-TELANGIECTASIA LOCUS; NPAT E14 GENE NULL 601449 DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION NULL 601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM HIP, CONGENITAL DISLOCATION OF, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM Caret 601451 MOVED TO 225400 Percent 601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS OCULOAURICULOFRONTONASAL DYSPLASIA NULL 601453 TRICHODENTAL DYSPLASIA Percent 601454 PSORIASIS 3, SUSCEPTIBILITY TO; PSORS3 Number Sign 601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE; HMSNL;; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4D;; HMSN4D Asterisk 601456 MULTIMERIN 1; MMRN1 MMRN;; ENDOTHELIAL CELL MULTIMERIN; ECM Number Sign 601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE Percent 601458 INFLAMMATORY BOWEL DISEASE 2; IBD2 Asterisk 601459 PREPRONOCICEPTIN; PNOC PPNOC;; N/OFQ NOCICEPTIN, INCLUDED;; NOCISTATIN, INCLUDED Asterisk 601460 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1 ORGANIC ANION TRANSPORTER 2A1; OATP2A1;; PROSTAGLANDIN TRANSPORTER; PGT;; SOLUTE CARRIER FAMILY 21 (PROSTAGLANDIN TRANSPORTER), MEMBER 2, FORMERLY; SLC21A2, FORMERLY Asterisk 601461 ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1 MATH1, MOUSE, HOMOLOG OF;; ATH1;; HATH1 Number Sign 601462 MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY; CMS2A, FORMERLY;; CMS IIa, FORMERLY Asterisk 601463 HYALURONAN SYNTHASE 1; HAS1 Asterisk 601464 AF4/FMR2 FAMILY, MEMBER 3; AFF3 LYMPHOID NUCLEAR PROTEIN RELATED TO AF4; LAF4;; MLLT2-RELATED PROTEIN FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(2)(q11.2), INCLUDED; FRA2A, INCLUDED;; FRAGILE SITE 2q11, INCLUDED;; LAF4/MLL FUSION GENE, INCLUDED Asterisk 601465 DEOXYGUANOSINE KINASE; DGUOK DEOXYGUANOSINE KINASE, MITOCHONDRIAL; DGK NULL 601466 PATENT DUCTUS VENOSUS; PDV PORTOSYSTEMIC VENOUS SHUNT, CONGENITAL; PSVS Asterisk 601467 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG OF;; MAD2, S. CEREVISIAE, HOMOLOG OF Asterisk 601468 METHIONINE ADENOSYLTRANSFERASE II, ALPHA; MAT2A MATA2;; MAT II, KIDNEY-SPECIFIC;; S-ADENOSYLMETHIONINE SYNTHETASE 2; SAMS2 Asterisk 601469 PARATHYROID HORMONE 2 RECEPTOR; PTH2R PARATHYROID HORMONE RECEPTOR 2; PTHR2 Asterisk 601470 CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1 FRACTALKINE RECEPTOR CX3CR1;; G PROTEIN-COUPLED RECEPTOR 13; GPR13;; G PROTEIN-COUPLED RECEPTOR V28; V28 Percent 601471 FACIAL PARESIS, HEREDITARY CONGENITAL, 1; HCFP1 FACIAL PALSY, CONGENITAL, UNILATERAL OR BILATERAL;; MOEBIUS SYNDROME 2, FORMERLY; MBS2, FORMERLY;; MOBIUS SYNDROME 2, FORMERLY Number Sign 601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2D;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2D Asterisk 601473 ZINC FINGER PROTEIN 75A; ZNF75A Caret 601474 MOVED TO 314997 Asterisk 601475 PERIODIC TRYPTOPHAN PROTEIN 2, YEAST, HOMOLOG OF; PWP2 PWP2H Asterisk 601476 LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 5; LAPTM5 LYSOSOME-ASSOCIATED TRANSMEMBRANE PROTEIN 5;; LYSOSOME-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5;; RETINOIC ACID-INDUCIBLE GENE E3; E3 NULL 601477 RIBBING DISEASE DIAPHYSEAL SCLEROSIS, MULTIPLE Asterisk 601478 MYOSIN IA; MYO1A Asterisk 601479 MYOSIN IE; MYO1E MYOSIN IC, FORMERLY; MYO1C, FORMERLY Asterisk 601480 MYOSIN IF; MYO1F MYOSIN ID, FORMERLY; MYO1D, FORMERLY Asterisk 601481 MYOSIN X; MYO10 Asterisk 601482 DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1 TATA BOX-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN DR1;; NEGATIVE COFACTOR 2-BETA;; NC2-BETA Asterisk 601483 PATERNALLY EXPRESSED GENE 3; PEG3 ZINC FINGER GENE, IMPRINTED, 2, INCLUDED; ZIM2, INCLUDED Asterisk 601484 SELENOPROTEIN P; SELENOP SELP; SEPP;; SELENOPROTEIN P, PLASMA, 1; SEPP1 Asterisk 601485 SYNTAXIN 1B; STX1B Asterisk 601486 DELETED IN AZOOSPERMIA-LIKE; DAZL DAZLA;; DELETED IN AZOOSPERMIA HOMOLOG; DAZH;; SPGYLA Asterisk 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG PPARG1, INCLUDED;; PPARG2, INCLUDED;; PPARG3, INCLUDED;; PAX8/PPARG FUSION GENE, INCLUDED Asterisk 601488 NEUTROPHIL CYTOSOLIC FACTOR 4; NCF4 NCF, 40-KD;; p40-PHOX Asterisk 601489 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS IGFBP, SOLUBLE;; ACID-LABILE SUBUNIT; ALS Asterisk 601490 NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2 p45 Asterisk 601491 IMPRINTED IN PRADER-WILLI SYNDROME; IPW Number Sign 601492 MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 MPS IX;; HYALURONIDASE DEFICIENCY Number Sign 601493 CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1C LEFT VENTRICULAR NONCOMPACTION 3, INCLUDED; LVNC3, INCLUDED;; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24, INCLUDED; CMH24, INCLUDED Number Sign 601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D LEFT VENTRICULAR NONCOMPACTION 6, INCLUDED; LVNC6, INCLUDED Number Sign 601495 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGHM DEFECT Asterisk 601496 GDNF FAMILY RECEPTOR ALPHA-1; GFRA1 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTOR ALPHA; GDNFRA; GDNFR Asterisk 601497 BCL2-ASSOCIATED ATHANOGENE 1; BAG1 RECEPTOR-ASSOCIATED PROTEIN, 46-KD; RAP46 Asterisk 601498 PEROXISOME BIOGENESIS FACTOR 6; PEX6 PEROXIN 6;; PEROXISOMAL ASSEMBLY FACTOR 2; PAF2;; PEROXISOMAL-TYPE ATPase 1; PXAAA1 Percent 601499 AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2 RIEGER SYNDROME, TYPE 2 Asterisk 601500 SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH SMO Asterisk 601501 VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF; VPS35 MEM3, MOUSE, HOMOLOG OF; MEM3 Asterisk 601502 Fc FRAGMENT OF IgG, HIGH AFFINITY Ib, RECEPTOR FOR; FCGR1B IMMUNOGLOBULIN G Fc RECEPTOR IB; IGFRB;; CD64 Asterisk 601503 Fc FRAGMENT OF IgG, HIGH AFFINITY Ic, RECEPTOR FOR; FCGR1C IMMUNOGLOBULIN G Fc RECEPTOR IC; IGFRC;; CD64 Asterisk 601504 SEC14-LIKE 1; SEC14L1 SEC14, S. CEREVISIAE, HOMOLOG OF, 1 Asterisk 601505 ZINC FINGER PROTEIN 146; ZNF146 ONLY ZINC FINGERS; OZF Asterisk 601506 SEPTIN 2; SEPT2 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 5; NEDD5;; DIFF6 Asterisk 601507 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-1 SUBUNIT; AP3S1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 3, 22-KD; CLAPS3;; CLATHRIN ADAPTOR COMPLEX AP3, SIGMA-3A SUBUNIT Caret 601508 MOVED TO 168601 Asterisk 601509 GAMMA-GLUTAMYL HYDROLASE; GGH Asterisk 601510 SREBP CLEAVAGE-ACTIVATING PROTEIN; SCAP Asterisk 601511 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5; STAT5;; MAMMARY GLAND FACTOR; MGF Asterisk 601512 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6 STAT, INTERLEUKIN 4-INDUCED;; IL4-STAT STAT6b, INCLUDED;; STAT6c, INCLUDED;; STAT6/NAB2 FUSION GENE, INCLUDED Asterisk 601513 FIBROBLAST GROWTH FACTOR 12; FGF12 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 1; FHF1 Asterisk 601514 FIBROBLAST GROWTH FACTOR 11; FGF11 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 3; FHF3 Asterisk 601515 FIBROBLAST GROWTH FACTOR 14; FGF14 FIBROBLAST GROWTH FACTOR HOMOLOGOUS FACTOR 4; FHF4 Asterisk 601516 SPLICING FACTOR 1; SF1 ZINC FINGER PROTEIN 162; ZNF162;; ZFM1;; D11S636 Asterisk 601517 ATAXIN 2; ATXN2 Number Sign 601518 PROSTATE CANCER, HEREDITARY, 1; HPC1 PRCA1 Asterisk 601519 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT E; ATP5I F1FO-ATP SYNTHASE, MURINE e SUBUNIT GENE; ATP5K Asterisk 601520 CHEMOKINE, CC MOTIF, LIGAND 17; CCL17 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 17; SCYA17;; THYMUS AND ACTIVATION-REGULATED CHEMOKINE; TARC Asterisk 601521 ENDOTHELIAL CELL-SPECIFIC MOLECULE 1; ESM1 Asterisk 601522 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 7; GRB7 Asterisk 601523 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10 GRB-IR;; MATERNALLY EXPRESSED GENE 1; MEG1 Asterisk 601524 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14 Asterisk 601525 CHITINASE 3-LIKE 1; CHI3L1 CARTILAGE GLYCOPROTEIN 39; GP39;; CHONDROCYTE PROTEIN YKL40 Asterisk 601526 CHITINASE 3-LIKE 2; CHI3L2 CHONDROCYTE PROTEIN YKL39; YKL39;; CHONDROCYTE PROTEIN 39 Asterisk 601527 ARISTALESS-LIKE HOMEOBOX 1; ALX1 CARTILAGE HOMEOPROTEIN 1; CART1 Asterisk 601528 VASCULAR ENDOTHELIAL GROWTH FACTOR C; VEGFC VASCULAR ENDOTHELIAL GROWTH FACTOR-RELATED PROTEIN; VRP Asterisk 601529 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1; NR2C1 NUCLEAR HORMONE RECEPTOR TR2; TR2 Asterisk 601530 SEQUESTOSOME 1; SQSTM1 UBIQUITIN-BINDING PROTEIN P62; P62 Asterisk 601531 LEUKOTRIENE B4 RECEPTOR; LTB4R LTB4R1;; CHEMOKINE RECEPTOR-LIKE 1; CMKRL1;; PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 7; P2RY7;; PURINOCEPTOR P2Y7; P2Y7;; LEUKOTRIENE B4 G PROTEIN-COUPLED RECEPTOR; BLTR;; BLT1;; G PROTEIN-COUPLED RECEPTOR 16; GPR16 Asterisk 601532 CASPASE 6, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP6 APOPTOTIC CYSTEINE PROTEASE MCH2 Asterisk 601533 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 2; ADAM2 FERTILIN, BETA; FTNB;; PH30 Asterisk 601534 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 3; KCNJ3 INWARDLY RECTIFYING POTASSIUM CHANNEL KIR3.1;; GIRK1 Asterisk 601535 EPHRIN A5; EFNA5 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 7; EPLG7;; LIGAND OF EPH-RELATED KINASE 7; LERK7;; RAGS;; EFL5 Number Sign 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS NAVAJO BRAINSTEM SYNDROME BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED; BSAS, INCLUDED Percent 601537 MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT Asterisk 601538 PROP PAIRED-LIKE HOMEOBOX 1; PROP1 PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR Number Sign 601539 PEROXISOME BIOGENESIS DISORDER 1B; PBD1B PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE);; PEROXISOME BIOGENESIS DISORDER (NALD/IRD);; ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL;; REFSUM DISEASE, INFANTILE;; INFANTILE PHYTANIC ACID STORAGE DISEASE Asterisk 601540 BROMODOMAIN-CONTAINING PROTEIN 2; BRD2 FEMALE STERILE HOMEOTIC-RELATED GENE 1, MOUSE, HOMOLOG OF; FSRG1;; RING3 Asterisk 601541 BROMODOMAIN-CONTAINING PROTEIN 3; BRD3 RING3-LIKE GENE; RING3L;; OPEN READING FRAME X; ORFX Asterisk 601542 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2 PITUITARY HOMEOBOX 2; PTX2;; RIEG BICOID-RELATED HOMEOBOX TRANSCRIPTION FACTOR 1; RIEG1;; RIEG;; SOLURSHIN;; ALL1-RESPONSIVE GENE 1; ARP1 Number Sign 601543 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12 DEAFNESS, AUTOSOMAL DOMINANT 8; DFNA8 Number Sign 601544 DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A Asterisk 601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT; PAFAH1B1 LIS1 GENE; LIS1 Asterisk 601546 PROSPERO-RELATED HOMEOBOX 1; PROX1 HOMEOBOX GENE PROX1 Number Sign 601547 CATARACT 3, MULTIPLE TYPES; CTRCT3 CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 Asterisk 601548 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1; EFEMP1 FIBRILLIN-LIKE; FBNL;; FIBULIN 3; FBLN3;; S1-5 Percent 601549 ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE Number Sign 601550 BLOOD GROUP--SWANN SYSTEM; SW SWANN BLOOD GROUP Number Sign 601551 BLOOD GROUP--FROESE FR;; FROESE BLOOD GROUP ANTIGEN Number Sign 601552 FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS; FDLAB TRABOULSI SYNDROME;; SHAWAF-TRABOULSI SYNDROME;; ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM Number Sign 601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD HYPOTRICHOSIS WITH CONE-ROD DYSTROPHY Asterisk 601554 DYNEIN, LIGHT CHAIN, TCTEX TYPE, 1; DYNLT1 T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1-LIKE 1; TCTEL1;; TCTE1, MOUSE, HOMOLOG OF;; TCTEX1, MOUSE, HOMOLOG OF Asterisk 601555 RHO FAMILY GTPase 2; RND2 RAS HOMOLOG GENE FAMILY, MEMBER N; RHON;; ARHN;; GTP-BINDING PROTEIN RHO7; RHO7 Asterisk 601556 ATAXIN 1; ATXN1 ATXN1, ALTERNATIVE READING FRAME, INCLUDED;; ALT-ATXN1, INCLUDED Asterisk 601557 ACETYL-CoA CARBOXYLASE-BETA; ACACB ACCB;; ACETYL-CoA CARBOXYLASE 2; ACC2 Asterisk 601558 RNA-BINDING PROTEIN GENE WITH MULTIPLE SPLICING; RBPMS Number Sign 601559 STUVE-WIEDEMANN SYNDROME; STWS SWS;; SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;; SCHWARTZ-JAMPEL SYNDROME, NEONATAL;; STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME NULL 601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH ROBIN PHENOTYPE NULL 601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA Asterisk 601562 DYNEIN, LIGHT CHAIN, LC8 TYPE, 1; DYNLL1 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 1; DNCL1; DLC1;; PROTEIN INHIBITOR OF NEURONAL NOS; PIN;; LC8 NULL 601563 HORNS IN SHEEP HO Asterisk 601564 PROTEASE, SERINE, 2; PRSS2 TRYPSINOGEN 2; TRY2;; TRYPSINOGEN, ANIONIC TRYPSIN 2, INCLUDED Asterisk 601565 INTERFERON REGULATORY FACTOR 8; IRF8 INTERFERON CONSENSUS SEQUENCE-BINDING PROTEIN 1; ICSBP1; ICSBP Asterisk 601566 INHIBITOR OF GROWTH 1; ING1 p33ING1 Asterisk 601567 LECTIN, MANNOSE-BINDING, 1; LMAN1 INTRACELLULAR MANNOSE SPECIFIC LECTIN; MR60;; ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT 53; ERGIC53 Asterisk 601568 ADDUCIN 3; ADD3 ADDUCIN, GAMMA;; ADDUCIN-LIKE; ADDL ADD3/NUP98 FUSION GENE, INCLUDED Asterisk 601569 UBIQUITIN-CONJUGATING ENZYME E2G 1; UBE2G1 UBE2G;; UBC7, C. ELEGANS, HOMOLOG OF Asterisk 601570 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A; WNT7A Asterisk 601571 CAPPING PROTEIN, ALPHA-2; CAPZA2 CAP PROTEIN, ACTIN, ALPHA-2 SUBUNIT; CAPPA2 Asterisk 601572 CAPPING PROTEIN, BETA; CAPZB CAP PROTEIN, ACTIN, BETA; CAPPB Asterisk 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2 ENX1 Asterisk 601574 TAF15 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 68-KD; TAF15 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2N; TAF2N;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 68-KD;; RNA-BINDING PROTEIN 56; RBP56 RBP56/NR4A3 FUSION GENE, INCLUDED Asterisk 601575 FOS-LIKE ANTIGEN 2; FOSL2 FOS-RELATED ANTIGEN 2; FRA2 Asterisk 601576 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PTPRS RPTP-SIGMA Asterisk 601577 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, C POLYPEPTIDE-ASSOCIATED PROTEIN; PTPRCAP PTPRC-ASSOCIATED PROTEIN;; LYMPHOCYTE PHOSPHATASE-ASSOCIATED PHOSPHOPROTEIN; LPAP Asterisk 601578 CYCLIN G1; CCNG1 CYCLIN G; CCNG Asterisk 601579 ORNITHINE DECARBOXYLASE ANTIZYME 1; OAZ1 OAZ;; ANTIZYME 1 Asterisk 601580 CAPPING PROTEIN, ALPHA-1; CAPZA1 CAP PROTEIN, ACTIN, ALPHA-1 SUBUNIT; CAPPA1 Asterisk 601581 NEURONAL CELL ADHESION MOLECULE; NRCAM KIAA0343 Asterisk 601582 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 145-KD; INPP5D SH2-CONTAINING INOSITOL PHOSPHATASE; SHIP;; SHIP1 Number Sign 601583 WILMS TUMOR 5; WT5 WILMS TUMOR, SUSCEPTIBILITY TO; WTSL Asterisk 601584 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 2; PTP4A2 PTP4A;; PTP(CAAX2);; OV1;; PHOSPHATASE OF REGENERATING LIVER 2; PRL2;; HH13;; HH7-2 Asterisk 601585 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 1; PTP4A1 PHOSPHATASE OF REGENERATING LIVER 1; PRL1;; PTP(CAAX1) Asterisk 601586 PROSTAGLANDIN E RECEPTOR 4, EP4 SUBTYPE; PTGER4 EP4R Caret 601587 MOVED TO 300939 Caret 601588 MOVED TO 152445 Asterisk 601589 RAS p21 PROTEIN ACTIVATOR 2; RASA2 GTPase-ACTIVATING PROTEIN OF RAS; GAP1M Asterisk 601590 ENVOPLAKIN; EVPL Asterisk 601591 PROTEIN KINASE, cGMP-DEPENDENT, TYPE II; PRKG2 PRKGR2;; cGK, TYPE II;; cGKII Asterisk 601592 RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD; RAPSN RAPSYN Asterisk 601593 BRCA1-ASSOCIATED RING DOMAIN 1; BARD1 Asterisk 601594 JUMONJI, AT-RICH INTERACTIVE DOMAIN 2; JARID2 JUMONJI; JMJ Asterisk 601595 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 1; SMAD1 MAD, DROSOPHILA, HOMOLOG OF;; MADH1;; SMA- AND MAD-RELATED PROTEIN 1;; MADR1;; TGF-BETA SIGNALING PROTEIN 1; BSP1 Number Sign 601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C Asterisk 601597 B-CELL TRANSLOCATION GENE 2; BTG2 PHEOCHROMOCYTOMA CELL 3; PC3 Asterisk 601598 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, DELTA; PTPRD PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, D;; PROTEIN-TYROSINE PHOSPHATASE-DELTA; PTPD Asterisk 601599 SARCOSPAN; SSPN SPN1;; K-RAS ONCOGENE-ASSOCIATED GENE; KRAG;; KIRSTEN-RAS-ASSOCIATED GENE;; DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 25-KD;; DAGA5 Asterisk 601600 ETS VARIANT GENE 5; ETV5 ETS-RELATED MOLECULE; ERM Asterisk 601601 TRANSCRIPTION FACTOR AP2-BETA; TFAP2B Asterisk 601602 TRANSCRIPTION FACTOR AP2-GAMMA; TFAP2C ESTROGEN RECEPTOR FACTOR 1; ERF1 Asterisk 601603 LYMPHOCYTE CYTOSOLIC PROTEIN 2; LCP2 SH2 DOMAIN-CONTAINING LEUKOCYTE PROTEIN, 76-KD; SLP76 Asterisk 601604 INTERLEUKIN 12 RECEPTOR, BETA-1; IL12RB1 IL12RB;; CD212 Caret 601605 MOVED TO 601448 Number Sign 601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 MFT1;; EPITHELIOMA ADENOIDES CYSTICUM OF BROOKE; EAC;; EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC;; BROOKE-FORDYCE TRICHOEPITHELIOMAS Asterisk 601607 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1 SNF5, YEAST, HOMOLOG OF; SNF5;; INTEGRASE INTERACTOR 1; INI1;; MALIGNANT RHABDOID TUMOR SUPPRESSOR NULL 601608 SPASTIC PARAPLEGIA AND EVANS SYNDROME Asterisk 601609 3-HYDROXYACYL-CoA DEHYDROGENASE; HADH HAD;; HADSC, FORMERLY;; HADHSC, FORMERLY;; SCHAD, FORMERLY Asterisk 601610 BUTYROPHILIN, SUBFAMILY 1, MEMBER A1; BTN1A1 BTN Asterisk 601611 SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 2; SLC14A2 UREA TRANSPORTER, RENAL; UTR;; UREA TRANSPORTER 2; UT2;; UREA TRANSPORTER A, MOUSE, HOMOLOG OF; UTA Percent 601612 LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME; LACHT MARDINI-NYHAN ASSOCIATION Asterisk 601613 CHEMOKINE, CXC MOTIF, RECEPTOR 5; CXCR5 BURKITT LYMPHOMA RECEPTOR 1; BLR1 Asterisk 601614 NETRIN 1; NTN1 NETRIN 1, MOUSE, HOMOLOG OF;; NETRIN 1-LIKE; NTN1L Asterisk 601615 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ABCA3 ATP-BINDING CASSETTE 3; ABC3;; ATP-BINDING CASSETTE TRANSPORTER 3;; ABC TRANSPORTER 3;; CED7, C. ELEGANS, HOMOLOG OF Percent 601616 IRIS PIGMENT EPITHELIUM ANOMALIES RUFFLES AND CYSTS OF IRIS PIGMENT EPITHELIUM;; CYSTS OF IRIS PIGMENT EPITHELIUM Asterisk 601617 RETINOL DEHYDROGENASE 5; RDH5 RETINOL DEHYDROGENASE, 11-CIS;; RETINOL DEHYDROGENASE 1, FORMERLY; RDH1, FORMERLY Asterisk 601618 SRY-BOX 18; SOX18 Asterisk 601619 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR; RALGDS Asterisk 601620 T-BOX 5; TBX5 Asterisk 601621 T-BOX 3; TBX3 Asterisk 601622 TWIST, DROSOPHILA, HOMOLOG OF, 1; TWIST1 TRANSCRIPTION FACTOR TWIST; TWIST Asterisk 601623 UBIQUITIN-PROTEIN LIGASE E3A; UBE3A HUMAN PAPILLOMAVIRUS E6-ASSOCIATED PROTEIN; E6AP Asterisk 601624 FICOLIN 2; FCN2 L-FICOLIN; FCNL;; COLLAGEN/FIBRINOGEN DOMAIN-CONTAINING LECTIN 2 P35;; OPSONIN P35 Asterisk 601625 ADP-RIBOSYLTRANSFERASE 1; ART1 ART2, FORMERLY Number Sign 601626 LEUKEMIA, ACUTE MYELOID; AML LEUKEMIA, ACUTE MYELOGENOUS LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO, INCLUDED Asterisk 601627 SURVIVAL OF MOTOR NEURON 2; SMN2 SURVIVAL OF MOTOR NEURON, CENTROMERIC COPY; SMNC;; C-BCD541 Caret 601628 MOVED TO 111730 Asterisk 601629 PURKINJE CELL PROTEIN 4; PCP4 PEP19 Caret 601630 MOVED TO 600274 Number Sign 601631 ANTERIOR SEGMENT DYSGENESIS 3; ASGD3 IRIDOGONIODYSGENESIS, TYPE 1; IRID1;; IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT; IGDA;; IRIS HYPOPLASIA WITH GLAUCOMA;; GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL Asterisk 601632 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 1; POU4F1 POU-DOMAIN TRANSCRIPTION FACTOR BRN3A; BRN3A;; BRN3.0, MOUSE, HOMOLOG OF Asterisk 601633 N-ETHYLMALEIMIDE-SENSITIVE FACTOR; NSF Number Sign 601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE; NTDFS NTD, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE, INCLUDED Caret 601635 MOVED TO 608317 Asterisk 601636 HYALURONAN SYNTHASE 2; HAS2 Asterisk 601637 CYTOCHROME P450, FAMILY 51, SUBFAMILY A, POLYPEPTIDE 1; CYP51A1 CYP51;; LANOSTEROL 14-ALPHA-DEMETHYLASE Asterisk 601638 ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 2; ARFIP2 ARFAPTIN 2;; PARTNER OF RAC1; POR1 Asterisk 601639 PROTEIN KINASE, cAMP-DEPENDENT, CATALYTIC, ALPHA; PRKACA PROTEIN KINASE A, C-ALPHA SUBUNIT PRKACA/DNAJB1 FUSION GENE, INCLUDED Caret 601640 MOVED TO 601314 Asterisk 601641 ACYL-CoA OXIDASE 2, BRANCHED-CHAIN; ACOX2 ACYL-CoA OXIDASE, BRANCHED-CHAIN, PEROXISOMAL;; BRANCHED-CHAIN ACYL-CoA OXIDASE; BRCACOX; BCOX Asterisk 601642 INTERLEUKIN 12 RECEPTOR, BETA-2; IL12RB2 Asterisk 601643 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), ALPHA; PPP2R5A Asterisk 601644 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), BETA; PPP2R5B Asterisk 601645 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), GAMMA; PPP2R5C Asterisk 601646 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), DELTA; PPP2R5D Asterisk 601647 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B (B56), EPSILON; PPP2R5E Asterisk 601648 PROTEASOME 26S SUBUNIT, NON-ATPase, 4; PSMD4 PROTEASE 26S, SUBUNIT 5A; S5A;; RPN10 Caret 601649 MOVED TO 101400 Number Sign 601650 PARAGANGLIOMAS 2; PGL2 GLOMUS TUMORS, FAMILIAL, 2 Asterisk 601651 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 4; NAP1L4 NUCLEOSOME ASSEMBLY PROTEIN 2-LIKE; NAP2L;; NAP2 Asterisk 601652 MYOCILIN; MYOC TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN; TIGR Asterisk 601653 EYES ABSENT 1; EYA1 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 1 Asterisk 601654 EYES ABSENT 2; EYA2 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 2 Asterisk 601655 EYES ABSENT 3; EYA3 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 3 Asterisk 601656 GATA-BINDING PROTEIN 6; GATA6 Asterisk 601657 EPIPHYCAN; EPYC DERMATAN SULFATE PROTEOGLYCAN 3; DSPG3 Asterisk 601658 OTOCONIN 90; OC90 PLA2-LIKE, INCLUDED; PLA2L, INCLUDED Asterisk 601659 GLUTAMINE AMIDOTRANSFERASE-LIKE CLASS 1 DOMAIN-CONTAINING PROTEIN 3A; GATD3A ES1, ZEBRAFISH, HOMOLOG OF; ES1; HES1;; CHROMOSOME 21 OPEN READING FRAME 33; C21ORF33;; D21S2048E;; KNPI;; GT335 Caret 601660 MOVED TO 601150 Asterisk 601661 UBIQUITIN-CONJUGATING ENZYME E2I; UBE2I UBIQUITIN-CONJUGATING ENZYME UBC9, YEAST, HOMOLOG OF; UBC9 Asterisk 601662 ACTIVATED LEUKOCYTE CELL ADHESION MOLECULE; ALCAM CD166 Asterisk 601663 ESTROGEN RECEPTOR 2; ESR2 ESTROGEN RECEPTOR, BETA; ESRB;; ESR-BETA;; ER-BETA Asterisk 601664 SMALL NUCLEAR RIBONUCLEOPROTEIN, 200-KD; SNRNP200 ACTIVATING SIGNAL COINTEGRATOR I COMPLEX SUBUNIT 3-LIKE 1; ASCC3L1;; U5 snRNP-SPECIFIC PROTEIN, 200-KD;; BRR2, YEAST, HOMOLOG OF;; U5-200KD;; KIAA0788 Number Sign 601665 OBESITY LEANNESS, INCLUDED Percent 601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15 INSULIN-DEPENDENT DIABETES MELLITUS 15 Asterisk 601667 ANGIOPOIETIN 1; ANGPT1 ANG1 NULL 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; SEMDAD Caret 601669 MOVED TO 602229 Asterisk 601670 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 1; DPF1 NEURO-D4, RAT, HOMOLOG OF; NEUD4;; BRG1-ASSOCIATED FACTOR, 45-KD, B; BAF45B Asterisk 601671 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2 REQUIEM, APOPTOSIS RESPONSE ZINC FINGER GENE; REQ;; UBI-D4/REQUIEM HOMOLOG; UBID4 Asterisk 601672 D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 3; DPF3 CER-D4, MOUSE, HOMOLOG OF; CERD4 Asterisk 601673 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 2; ELAVL2 HOMOLOG OF DROSOPHILA ELAV-LIKE NEURONAL PROTEIN; HELN1;; HU-ANTIGEN B; HUB Asterisk 601674 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 1; EZH1 Number Sign 601675 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP;; ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION;; TAY SYNDROME;; TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS; ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY;; PIBIDS SYNDROME Percent 601676 ACUTE INSULIN RESPONSE AIR Asterisk 601677 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 5; NDUFA5 NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT B13; UQOR13;; B13 Number Sign 601678 BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL;; HYPERPROSTAGLANDIN E SYNDROME 1 Asterisk 601679 GENERAL TRANSCRIPTION FACTOR II-I; GTF2I BTK-ASSOCIATED PROTEIN, 135-KD; BAP135;; BRUTON TYROSINE KINASE-ASSOCIATED PROTEIN 135;; TFII-I Number Sign 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B;; SHELDON-HALL SYNDROME; SHS;; FREEMAN-SHELDON SYNDROME VARIANT; FSSV;; ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES Asterisk 601681 PROTEASOME 26S SUBUNIT, ATPase, 5; PSMC5 THYROID HORMONE RECEPTOR INTERACTOR 1; TRIP1 Percent 601682 GLAUCOMA 1, PRIMARY OPEN ANGLE, C; GLC1C Asterisk 601683 COQ7, S. CEREVISIAE, HOMOLOG OF; COQ7 CLK1, C. ELEGANS, HOMOLOG OF Asterisk 601684 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 1; RPS6KA1 RIBOSOMAL S6 KINASE 1; RSK1;; MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1A; MAPKAPK1A;; MAPKAP KINASE 1A Asterisk 601685 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 2; RPS6KA2 RIBOSOMAL S6 KINASE 3; RSK3;; MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 1C; MAPKAPK1C;; MAPKAP KINASE 1C Asterisk 601686 TELOMERASE-ASSOCIATED PROTEIN 1; TEP1 TELOMERASE PROTEIN COMPONENT 1 Asterisk 601687 KERATIN 12, TYPE I; KRT12 K12;; KA12;; CYTOKERATIN 12 Asterisk 601688 15-HYDROXYPROSTAGLANDIN DEHYDROGENASE; HPGD 15-HYDROXYPROSTAGLANDIN DEHYDROGENASE, TYPE I; PGDH1;; PGDH Asterisk 601689 TAF4B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 105-KD; TAF4B TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR C2; TAF2C2;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 105-KD; TAFII105 Asterisk 601690 PHOSPHOLIPASE A2, GROUP VII; PLA2G7 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE; PAFAH;; PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, PLASMA;; LIPOPROTEIN-ASSOCIATED PHOSPHOLIPASE A2;; LP-PLA2;; LDL-PLA2 Asterisk 601691 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4; ABCA4 ATP-BINDING CASSETTE TRANSPORTER, RETINA-SPECIFIC; ABCR;; ABC TRANSPORTER, RETINA-SPECIFIC;; PHOTORECEPTOR RIM PROTEIN; RMP Asterisk 601692 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; TGFBI BETA-IG-H3; BIGH3;; KERATOEPITHELIN Asterisk 601693 UNCOUPLING PROTEIN 2; UCP2 Percent 601694 LEPTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; LEPQTL1 LSL Asterisk 601695 CASEIN, KAPPA; CSN3 CSN10;; CSNK;; KCA NULL 601696 NOVELTY SEEKING PERSONALITY TRAIT RISK-TAKING BEHAVIOR, INCLUDED Asterisk 601697 SERPIN FAMILY B, MEMBER 8; SERPINB8 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 8;; PROTEASE INHIBITOR 8; PI8;; CYTOPLASMIC ANTIPROTEINASE 2; CAP2 Asterisk 601698 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N, POLYPEPTIDE 2; PTPRN2 ISLET CELL ANTIGEN-RELATED PROTEIN-TYROSINE PHOSPHATASE;; IA2-BETA, MOUSE, HOMOLOG OF; IAR;; ICAAR;; PHOGRIN;; KIAA0387 Asterisk 601699 PROSTAGLANDIN I2 SYNTHASE; PTGIS PGIS;; PROSTACYCLIN SYNTHASE;; CYP8;; CYP8A1 Percent 601700 SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE NULL 601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA TRICHOOCULODERMOVERTEBRAL SYNDROME;; TODV SYNDROME;; ALVES SYNDROME Asterisk 601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1 p160-ROCK;; RHO KINASE Asterisk 601703 VASODILATOR-STIMULATED PHOSPHOPROTEIN; VASP Asterisk 601704 CHEMOKINE, CXC MOTIF, LIGAND 9; CXCL9 MONOKINE INDUCED BY GAMMA INTERFERON; MIG;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 9; SCYB9 Number Sign 601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY NULL 601706 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME Number Sign 601707 CURRY-JONES SYNDROME; CRJS CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT NULL 601708 SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL Number Sign 601709 QUEBEC PLATELET DISORDER; QPD BLEEDING DISORDER, PLATELET-TYPE, 5; BDPLT5;; FACTOR V QUEBEC Asterisk 601710 EUKARYOTIC TRANSLATION INITIATION FACTOR 5; EIF5 Asterisk 601711 TNF RECEPTOR-ASSOCIATED FACTOR 1; TRAF1 EPSTEIN-BARR VIRUS-INDUCED mRNA 6; EBI6 Asterisk 601712 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 2; BIRC2 APOPTOSIS INHIBITOR 1; API1;; HIAP2;; CIAP1;; MAMMALIAN IAP HOMOLOG B; MIHB Asterisk 601713 GLIA MATURATION FACTOR, BETA; GMFB GLIA MATURATION FACTOR; GMF Asterisk 601714 TEA DOMAIN FAMILY MEMBER 4; TEAD4 TRANSCRIPTION FACTOR 13-LIKE 1; TCF13L1;; TRANSCRIPTIONAL ENHANCER FACTOR 1-RELATED GENE; RTEF1;; TRANSCRIPTIONAL ENHANCER FACTOR 3; TEF3 Caret 601715 MOVED TO 601582 Asterisk 601716 STAUFEN, DROSOPHILA, HOMOLOG OF, 1; STAU1 STAU;; STAUFEN-LIKE Asterisk 601717 SYNTAXIN-BINDING PROTEIN 2; STXBP2 UNC18, C. ELEGANS, HOMOLOG OF, 2;; UNC18B;; MUNC18-2 Number Sign 601718 RETINITIS PIGMENTOSA 19; RP19 Asterisk 601719 T-BOX 4; TBX4 Asterisk 601720 ANTIGENIC DETERMINANT OF RECOMBINATION PROTEIN A, MOUSE, HOMOLOG OF; KIN ANTIGENIC DETERMINANT OF RECA, MOUSE, HOMOLOG OF;; KIN17;; BINDING TO CURVED DNA; BTCD Asterisk 601721 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 3; BIRC3 APOPTOSIS INHIBITOR 2; API2;; HIAP1;; CIAP2;; MAMMALIAN IAP HOMOLOG C; MIHC API2/MALT1 FUSION GENE, INCLUDED Caret 601722 MOVED TO 601712 Asterisk 601723 FRIZZLED, DROSOPHILA, HOMOLOG OF, 5; FZD5 FRIZZLED 5 Asterisk 601724 NEUROGENIC DIFFERENTIATION 1; NEUROD1 NEUROD;; BETA-CELL E-BOX TRANSACTIVATOR 2; BETA2 Asterisk 601725 NEUROGENIC DIFFERENTIATION 2; NEUROD2 Asterisk 601726 NEUROGENIN 1; NEUROG1 NGN1;; NEUROGENIC DIFFERENTIATION 3; NEUROD3 Caret 601727 MOVED TO 601714 Asterisk 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN PTEN1;; MUTATED IN MULTIPLE ADVANCED CANCERS 1; MMAC1;; PHOSPHATASE AND TENSIN HOMOLOG DELETED ON CHROMOSOME 10 Asterisk 601729 TEA DOMAIN FAMILY MEMBER 2; TEAD2 TRANSCRIPTIONAL ENHANCER FACTOR 4; TEF4 Asterisk 601730 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS C PROTEIN; PIGC GPI2, YEAST, HOMOLOG OF Asterisk 601731 5-AMINOIMIDAZOLE-4-CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE/IMP CYCLOHYDROLASE; ATIC AICARFT/IMPCHASE;; AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE;; PURH Asterisk 601732 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 1; SMARCC1 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 155;; BRG1-ASSOCIATED FACTOR, 155-KD; BAF155;; CHROMATIN REMODELING COMPLEX BAF155 SUBUNIT;; SWI3, YEAST, HOMOLOG OF Asterisk 601733 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 2; MGST2 GST2 Asterisk 601734 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 170;; BRG1-ASSOCIATED FACTOR, 170-KD; BAF170;; CHROMATIN REMODELING COMPLEX BAF170 SUBUNIT;; SWI3, YEAST, HOMOLOG OF Asterisk 601735 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 1; SMARCD1 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 60A;; BRG1-ASSOCIATED FACTOR, 60-KD, A; BAF60A;; CHROMATIN REMODELING COMPLEX BAF60A SUBUNIT;; SWP73, YEAST, HOMOLOG OF Asterisk 601736 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 2; SMARCD2 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 60B;; BRG1-ASSOCIATED FACTOR, 60-KD, B; BAF60B;; CHROMATIN REMODELING COMPLEX BAF60B SUBUNIT;; SWP73, YEAST, HOMOLOG OF Asterisk 601737 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY D, MEMBER 3; SMARCD3 MAMMALIAN CHROMATIN REMODELING COMPLEX, BRG1-ASSOCIATED FACTOR 60C;; BRG1-ASSOCIATED FACTOR, 60-KD, C; BAF60C;; CHROMATIN REMODELING COMPLEX BAF60C SUBUNIT;; SWP73 YEAST, HOMOLOG OF Asterisk 601738 EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 1; EXTL1 EXOSTOSIN-LIKE 1;; MULTIPLE EXOSTOSES-LIKE 1;; EXTL Asterisk 601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1 MEIS1 HOMEOBOX PROTEIN Asterisk 601740 MEIS1, MOUSE, HOMOLOG OF, 2; MEIS2 MEIS1-RELATED GENE 1; MRG1 Asterisk 601741 CULLIN 5; CUL5 VASOPRESSIN-ACTIVATED CALCIUM-MOBILIZING RECEPTOR 1; VACM1 Asterisk 601742 TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28 KRAB-ASSOCIATED PROTEIN 1; KAP1;; TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-BETA; TIF1B Asterisk 601743 ONCOSTATIN M RECEPTOR; OSMR ONCOSTATIN M-SPECIFIC RECEPTOR, BETA; OSMRB Number Sign 601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1 SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED Asterisk 601745 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 1; KCNK1 POTASSIUM CHANNEL, WEAKLY INWARD-RECTIFYING, WITH TWIN P DOMAINS, 1; TWIK1;; K2P1 Asterisk 601746 HYPOXIA UP-REGULATED 1; HYOU1 OXYGEN-REGULATED PROTEIN, 150-KD; ORP150 Asterisk 601747 TRIPARTITE MOTIF-CONTAINING PROTEIN 23; TRIM23 ADP-RIBOSYLATION FACTOR DOMAIN PROTEIN 1; ARFD1; ARD1;; ARF DOMAIN PROTEIN 1 Asterisk 601748 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 2; GTF2H2 TRANSCRIPTION FACTOR IIH, 44-KD SUBUNIT Asterisk 601749 GLOMULIN; GLMN FKBP-ASSOCIATED PROTEIN, 48-KD; FAP48;; FKBP-ASSOCIATED PROTEIN, 68-KD; FAP68 Asterisk 601750 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 3; GTF2H3 TRANSCRIPTION FACTOR IIH, 34-KD SUBUNIT;; TFB4 Asterisk 601751 MELANIN-CONCENTRATING HORMONE RECEPTOR 1; MCHR1 G PROTEIN-COUPLED RECEPTOR 24; GPR24;; SLC1;; MCHR Asterisk 601752 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 1; ENTPD1 CD39 ANTIGEN; CD39;; VASCULAR ATP DIPHOSPHOHYDROLASE; ATPDase;; APYRASE Asterisk 601753 PEPTIDYL-PROLYL ISOMERASE D; PPID CYCLOPHILIN D; CYPD;; CYCLOPHILIN 40; CYP40 Asterisk 601754 UBIQUITIN FUSION DEGRADATION 1-LIKE; UFD1L Asterisk 601755 ESS2 SPLICING FACTOR, XENOPUS, HOMOLOG OF; ESS2 DIGEORGE SYNDROME CRITICAL REGION GENE DGSI; DGSI;; DIGEORGE SYNDROME CRITICAL REGION GENE 14; DGCR14;; ES2 Asterisk 601756 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3; GALNT3 GalNAc TRANSFERASE 3; GalNAcT3;; POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 3 Asterisk 601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7 PEROXIN 7;; PEROXISOMAL PTS2 RECEPTOR Asterisk 601758 PEROXISOME BIOGENESIS FACTOR 12; PEX12 PEROXIN 12 NULL 601759 PREAXIAL HALLUCAL POLYDACTYLY Asterisk 601760 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 4; GTF2H4 TRANSCRIPTION FACTOR IIH, 52-KD SUBUNIT;; TFB2 Asterisk 601761 CASPASE 7, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP7 MCH3 Asterisk 601762 CASPASE 10, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP10 MCH4 CASPASE 10, ISOFORM B, INCLUDED; CASP10B, INCLUDED;; FADD-LIKE ICE 2, INCLUDED; FLICE2, INCLUDED Asterisk 601763 CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8 MORT1-ASSOCIATED CED3 HOMOLOG; MACH;; FADD-HOMOLOGOUS ICE/CED3-LIKE PROTEASE;; FADD-LIKE ICE; FLICE;; MCH5 Percent 601764 SEIZURES, BENIGN FAMILIAL INFANTILE, 1; BFIS1 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1; BFIC1 Caret 601765 MOVED TO 601542 Asterisk 601766 FRIZZLED, DROSOPHILA, HOMOLOG OF, 9; FZD9 FRIZZLED, DROSOPHILA, HOMOLOG OF, 3; FZD3 Asterisk 601767 HUNTINGTIN-INTERACTING PROTEIN 1; HIP1 HIP1/PDGFRB FUSION GENE, INCLUDED Asterisk 601768 SH3 DOMAIN, GRB2-LIKE, 1; SH3GL1 SH3p8;; EXTRA ELEVEN-NINETEEN LEUKEMIA FUSION GENE; EEN;; EEN FUSION PARTNER OF MLL;; ENDOPHILIN 2;; ENDOPHILIN A2 EEN/MLL FUSION GENE, INCLUDED Asterisk 601769 VITAMIN D RECEPTOR; VDR 1,25-DIHYDROXYVITAMIN D3 RECEPTOR;; VITAMIN D HORMONE RECEPTOR Asterisk 601770 NEUROPEPTIDE Y RECEPTOR Y6; NPY6R PP2;; Y2B Asterisk 601771 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1 P4501B1 Asterisk 601772 H2A HISTONE FAMILY, MEMBER X; H2AFX H2AX HISTONE;; H2AX Asterisk 601773 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N; PTPRN ISLET CELL ANTIGEN 512; ICA512;; INSULINOMA-ASSOCIATED PROTEIN 2; IA2;; ISLET ANTIGEN 2 Asterisk 601774 ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT5 N-ACETYLGLUCOSAMINYLTRANSFERASE V;; GNT-V;; GNT-VA NULL 601775 FOLATE LEVEL IN ERYTHROCYTES Number Sign 601776 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1 EDSMC;; ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME;; EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY;; ADDUCTED THUMB-CLUBFOOT SYNDROME; ATCS;; DUNDAR SYNDROME;; ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS Number Sign 601777 CONE-ROD DYSTROPHY 6; CORD6 RETINAL CONE DYSTROPHY 2; RCD2 Asterisk 601778 POLYMERASE, RNA, MITOCHONDRIAL; POLRMT MTRNAP POLYMERASE, RNA, NUCLEAR, SINGLE-POLYPEPTIDE, IV, INCLUDED; SPRNAPIV, INCLUDED Caret 601779 MOVED TO 258450 Number Sign 601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6 CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET;; NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT; vLINCL;; CEROID LIPOFUSCINOSIS, NEURONAL, 6 (Kufs type);; CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE, FORMERLY; CLN4A, FORMERLY Caret 601781 MOVED TO 194554 Asterisk 601782 TESTIS-SPECIFIC PROTEIN KINASE 1; TESK1 Asterisk 601783 MICROTUBULE-ASSOCIATED PROTEIN 6; MAP6 MTAP6;; STABLE TUBULE-ONLY POLYPEPTIDE; STOP;; KIAA1878 Asterisk 601784 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 1; ACCN1 ACID-SENSING ION CHANNEL 2; ASIC2;; BRAIN SODIUM CHANNEL 1; BNAC1;; BNC1;; SODIUM CHANNEL, NONVOLTAGE-GATED, NEURONAL, 1;; MAMMALIAN DEGENERIN; MDEG Asterisk 601785 PHOSPHOMANNOMUTASE 2; PMM2 Asterisk 601786 PHOSPHOMANNOMUTASE 1; PMM1 Asterisk 601787 TAF5 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 100-KD; TAF5 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2D; TAF2D;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 100-KD; TAFII100 Asterisk 601788 MYOSTATIN; MSTN GROWTH/DIFFERENTIATION FACTOR 8; GDF8 Asterisk 601789 PEROXISOME BIOGENESIS FACTOR 13; PEX13 PEROXIN 13 Asterisk 601790 PANCREATIC POLYPEPTIDE RECEPTOR 1; PPYR1 Y4;; NPY4R;; PP1 Asterisk 601791 PEROXISOME BIOGENESIS FACTOR 14; PEX14 PEROXIN 14;; NFE2-ASSOCIATED POLYPEPTIDE 2; NAPP2 Asterisk 601792 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 2; PPP1R2 PHOSPHATASE INHIBITOR 2; IPP2 Caret 601793 MOVED TO 600724 Percent 601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME Asterisk 601795 MITOGEN-ACTIVATED PROTEIN KINASE 3; MAPK3 PROTEIN KINASE, MITOGEN-ACTIVATED, 3; PRKM3;; EXTRACELLULAR SIGNAL-REGULATED KINASE 1; ERK1;; p44ERK1;; p44MAPK Asterisk 601796 TAF4 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 135-KD; TAF4 TAF4A RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 135-KD; TAF4A;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR C1; TAF2C1;; TAF2C;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 130-KD; TAFII130;; TAFII135 Asterisk 601797 ABSENT IN MELANOMA 1; AIM1 Asterisk 601798 GLUCOSAMINE-6-PHOSPHATE DEAMINASE 1; GNPDA1 GNP1;; GNPI;; OSCILLIN, HAMSTER, HOMOLOG OF;; KIAA0060 Asterisk 601799 PROTEASE INHIBITOR 9, OVALBUMIN TYPE; PI9 CYTOPLASMIC ANTIPROTEINASE 3; CAP3;; SERPIN FAMILY B, MEMBER 9; SERPINB9 Number Sign 601800 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN;; SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING;; SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR;; EYE COLOR 1; EYCL1;; EYE COLOR, GREEN/BLUE; GEY MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8, INCLUDED Asterisk 601801 TRANSCRIPTION FACTOR Sp2; SP2 SPECIFICITY PROTEIN 2 Asterisk 601802 HOMEOBOX GENE EXPRESSED IN ES CELLS; HESX1 RATHKE POUCH HOMEOBOX; RPX Number Sign 601803 PALLISTER-KILLIAN SYNDROME; PKS TETRASOMY 12p, MOSAIC;; ISOCHROMOSOME 12p SYNDROME HEXASOMY 12p, MOSAIC, INCLUDED Asterisk 601804 TRANSCRIPTION FACTOR Sp3; SP3 SP3/EWS FUSION GENE, INCLUDED Asterisk 601805 G PROTEIN-COUPLED ESTROGEN RECEPTOR; GPER G PROTEIN-COUPLED RECEPTOR 30; GPR30;; CHEMOKINE RECEPTOR-LIKE 2; CMKRL2 Asterisk 601806 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 6; MCM6 MINICHROMOSOME MAINTENANCE, S. POMBE, HOMOLOG OF, 6 REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 14 KB UPSTREAM OF LCT, INCLUDED;; LACTASE REGULATORY ELEMENT, INCLUDED Asterisk 601807 MATRIX METALLOPROTEINASE 19; MMP19 MATRIX METALLOPROTEINASE 18, FORMERLY; MMP18, FORMERLY Number Sign 601808 CHROMOSOME 18q DELETION SYNDROME CHROMOSOME 18q- SYNDROME;; 18q- SYNDROME NULL 601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS Asterisk 601810 DNA REPLICATION HELICASE 2, YEAST, HOMOLOG OF; DNA2 DNA2-LIKE; DNA2L;; KIAA0083 NULL 601811 PREMATURE AGING SYNDROME, OKAMOTO TYPE Number Sign 601812 PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT Number Sign 601813 EXUDATIVE VITREORETINOPATHY 4; EVR4 Asterisk 601814 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2; FXYD2 SODIUM-POTASSIUM-ATPase, GAMMA-1 POLYPEPTIDE; ATP1G1 Number Sign 601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD PHGDH DEFICIENCY Number Sign 601816 BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; BILIQTL1 Asterisk 601817 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 3; NME3 NONMETASTATIC CELLS 3, PROTEIN EXPRESSED IN;; DR-NM23;; NONMETASTATIC PROTEIN 23, HOMOLOG OF; NM23H3 Asterisk 601818 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 4; NME4 NONMETASTATIC CELLS 4, PROTEIN EXPRESSED IN;; NONMETASTATIC PROTEIN 23, HOMOLOG 4; NM23H4;; METASTASIS INHIBITION FACTOR NM23H4;; NUCLEOSIDE DIPHOSPHATE KINASE D; NDPKD Asterisk 601819 BROMODOMAIN PHD FINGER TRANSCRIPTION FACTOR; BPTF FETAL ALZHEIMER ANTIGEN; FALZ;; FAC1;; NURF301, DROSOPHILA, HOMOLOG OF; NURF301;; BROMODOMAIN AND PHD DOMAIN TRANSCRIPTION FACTOR Number Sign 601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHHI;; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT;; HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA;; HYPERINSULINISM, NEONATAL;; HYPERINSULINISM, CONGENITAL;; HYPERINSULINISM, FAMILIAL;; NESIDIOBLASTOSIS Asterisk 601821 RNA, Y1 SMALL CYTOPLASMIC; RNY1 RNA POLYMERASE III TRANSCRIPT 1; Y1 Asterisk 601822 RNA, Y3 SMALL CYTOPLASMIC; RNY3 RNA POLYMERASE III TRANSCRIPT 3; Y3 Asterisk 601823 RNA, Y4 SMALL CYTOPLASMIC; RNY4 RNA POLYMERASE III TRANSCRIPT 4; Y4 Asterisk 601824 RNA, Y5 SMALL CYTOPLASMIC; RNY5 RNA POLYMERASE III TRANSCRIPT 5; Y5 Asterisk 601825 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7; NDUFS7 NADH-COENZYME Q REDUCTASE, 20-KD;; COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT;; PSST Asterisk 601826 DIACYLGLYCEROL KINASE, DELTA, 130-KD; DGKD KIAA0145;; DGK ISOZYME, 130-KD;; DGK-DELTA Caret 601827 MOVED TO 601659 Asterisk 601828 NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 2; NR4A2 NUCLEAR RECEPTOR-RELATED 1; NURR1;; NUCLEAR RECEPTOR OF T CELLS; NOT;; TRANSCRIPTIONALLY INDUCIBLE NUCLEAR RECEPTOR; TINUR NULL 601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE Caret 601830 MOVED TO 601770 Asterisk 601831 HISTONE GENE CLUSTER 2, H2B HISTONE FAMILY, MEMBER E; HIST2H2BE HISTONE GENE CLUSTER 2, H2BE;; HIST2 CLUSTER, H2BE;; H2B HISTONE FAMILY, MEMBER Q; H2BFQ;; H2B/Q;; H2B.1 Asterisk 601832 RIBOSOMAL PROTEIN L29; RPL29 HP/HS-INTERACTING PROTEIN; HIP;; HEPARIN/HEPARAN SULFATE-BINDING PROTEIN Asterisk 601833 ALLOGRAFT INFLAMMATORY FACTOR 1; AIF1 INTERFERON RESPONSE TRANSCRIPT 1; IRT1;; IBA1 Asterisk 601834 CHEMOKINE, CC MOTIF, RECEPTOR 8; CCR8 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE 2; CMKBRL2;; CHEMOKINE RECEPTOR-LIKE 1; CKRL1;; CMKBR8 Asterisk 601835 CHEMOKINE, CC MOTIF, RECEPTOR 6; CCR6 CHEMOKINE RECEPTOR-LIKE 3; CKRL3;; G PROTEIN-COUPLED RECEPTOR 29; GPR29;; GPRCY4;; STRL22;; CMKBR6 Asterisk 601836 KINESIN-ASSOCIATED PROTEIN 3; KIFAP3 KAP3;; smg GDS-ASSOCIATED PROTEIN; SMAP Asterisk 601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4 DNA LIGASE IV Asterisk 601838 INOSITOL 1,3,4-TRISPHOSPHATE 5/6-KINASE; ITPK1 ITRPK1 Asterisk 601839 EPHRIN RECEPTOR EphB3; EPHB3 EPH-LIKE TYROSINE KINASE 2; ETK2;; HUMAN EMBRYO KINASE 2; HEK2;; TYRO6 Caret 601840 MOVED TO 600286 Asterisk 601841 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 5; SERPINA5 PROTEIN C INHIBITOR; PCI Caret 601842 MOVED TO 601543 Asterisk 601843 SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5; SLC5A5 SODIUM-IODIDE SYMPORTER; NIS Asterisk 601844 PROTEIN KINASE, LYSINE-DEFICIENT 4; WNK4 PRKWNK4 Asterisk 601845 GOOSECOID HOMEOBOX 2; GSC2 GOOSECOID-LIKE; GSCL Percent 601846 VACUOLAR NEUROMYOPATHY MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES; MDRV Number Sign 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2 Asterisk 601848 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 20, S. CEREVISIAE, HOMOLOG OF; TOMM20 TOM20;; MAS20, S. CEREVISIAE, HOMOLOG OF; MAS20;; KIAA0016 Caret 601849 MOVED TO 228930 Caret 601850 MOVED TO 500004 Asterisk 601851 CIRCADIAN LOCOMOTOR OUTPUT CYCLES KAPUT; CLOCK CLOCK, MOUSE, HOMOLOG OF Asterisk 601852 INTERCELLULAR ADHESION MOLECULE 5; ICAM5 TELENCEPHALIN; TLCN; TLN Percent 601853 GOMEZ-LOPEZ-HERNANDEZ SYNDROME; GLHS CEREBELLOTRIGEMINAL DERMAL DYSPLASIA CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA Asterisk 601854 DIACYLGLYCEROL KINASE, GAMMA, 90-KD; DGKG DIACYLGLYCEROL KINASE, GAMMA; DAGK3;; DAGK, 90-KD;; DGK-GAMMA Asterisk 601855 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARHGEF1 GUANINE NUCLEOTIDE EXCHANGE FACTOR, 115-KD;; p115-RhoGEF;; LSC, MOUSE, HOMOLOG OF; LSC Asterisk 601856 ZINC FINGER PROTEIN 211; ZNF211 Caret 601857 MOVED TO 601056 Asterisk 601858 CALMEGIN; CLGN Number Sign 601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS CANALE-SMITH SYNDROME;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED; ALPS1A, INCLUDED;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, INCLUDED; ALPS1B, INCLUDED;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE, INCLUDED Asterisk 601860 17-BETA-HYDROXYSTEROID DEHYDROGENASE IV; HSD17B4 17-BETA-HSD IV;; D-3-HYDROXYACYL-CoA DEHYDRATASE/D-3-HYDROXYACYL-CoA DEHYDROGENASE BIFUNCTIONAL PROTEIN;; D-BIFUNCTIONAL PROTEIN, PEROXISOMAL;; DBP, PEROXISOMAL;; MULTIFUNCTIONAL PROTEIN 2; MFP2 Asterisk 601861 REGULATORY FACTOR X-ASSOCIATED PROTEIN; RFXAP RFX-ASSOCIATED PROTEIN Caret 601862 MOVED TO 104160 Asterisk 601863 REGULATORY FACTOR X, 5; RFX5 Caret 601864 MOVED TO 177060 Asterisk 601865 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; PLOD2 LYSYL HYDROXYLASE 2; LH2;; LYSINE HYDROXYLASE 2;; TELOPEPTIDE LYSYL HYDROXYLASE; TLH Asterisk 601866 SEMAPHORIN 4D; SEMA4D SEMAPHORIN J; SEMAJ;; LEUKOCYTE ACTIVATION ANTIGEN CD100; CD100;; COLLAPSIN 4; COLL4 Asterisk 601867 ATPase, Na+/K+ TRANSPORTING, BETA-3 POLYPEPTIDE; ATP1B3 Na,K-ATPase BETA-3 POLYPEPTIDE Number Sign 601868 DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13 Number Sign 601869 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72;; DEAFNESS, AUTOSOMAL RECESSIVE 95; DFNB95 Asterisk 601870 METHIONINE AMINOPEPTIDASE 2; METAP2 EUKARYOTIC INITIATION FACTOR 2-ASSOCIATED PROTEIN, 67-KD;; p67 Asterisk 601871 CYSTEINE- AND GLYCINE-RICH PROTEIN 2; CSRP2 CYSTEINE-RICH PROTEIN 2; CRP2;; LIM DOMAIN ONLY, SMOOTH MUSCLE;; LIM DOMAIN ONLY 5; LMO5 Asterisk 601872 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 2; SLC7A2 AMINO ACID TRANSPORTER, CATIONIC 2; ATRC2;; CATIONIC AMINO ACID TRANSPORTER 2; CAT2 Asterisk 601873 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B4GALNT1 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE; GALGT;; GalNAcT;; GM2/GD2 SYNTHASE Asterisk 601874 ELONGATION FACTOR, RNA POLYMERASE II, 2; ELL2 Caret 601875 MOVED TO 601630 NULL 601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1 FERTILIZATION ANTIGEN 1; FA1 Asterisk 601877 LEFT-RIGHT DETERMINATION FACTOR 2; LEFTY2 ENDOMETRIAL BLEEDING-ASSOCIATED FACTOR; EBAF;; LEFT-RIGHT DETERMINATION, FACTOR A; LEFTA;; LEFTY A;; LEFTY2, MOUSE, HOMOLOG OF;; TRANSFORMING GROWTH FACTOR, BETA-4; TGFB4 Asterisk 601878 KRUPPEL-LIKE FACTOR 10; KLF10 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE; TIEG TGFB-INDUCIBLE EARLY GROWTH RESPONSE;; TGF-BETA-INDUCIBLE EARLY GENE;; ZINC FINGER TRANSCRIPTION FACTOR TIEG;; TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 1; TIEG1;; EARLY GROWTH RESPONSE-ALPHA Asterisk 601879 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 9; LGALS9 GALECTIN 9 ECALECTIN, INCLUDED Asterisk 601880 CHEMOKINE, CX3C MOTIF, LIGAND 1; CX3CL1 SMALL INDUCIBLE CYTOKINE SUBFAMILY D, MEMBER 1; SCYD1;; NEUROTACTIN; NTT; NTN;; FRACTALKINE Asterisk 601881 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX GENE; RAX RX HOMEOBOX GENE; RX Asterisk 601882 DNA FRAGMENTATION FACTOR, 45-KD, ALPHA SUBUNIT; DFFA DFF1;; DFF45;; INHIBITOR OF CASPASE-ACTIVATED DNase; ICAD Asterisk 601883 DNA FRAGMENTATION FACTOR, 40-KD, BETA SUBUNIT; DFFB DFF2;; DFF40;; DEOXYRIBONUCLEASE III, CASPASE-ACTIVATED;; CASPASE-ACTIVATED DNase; CAD Number Sign 601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1 HIGH BONE MASS, INCLUDED; HBM, INCLUDED;; OSTEOPOROSIS, SUSCEPTIBILITY TO, INCLUDED Number Sign 601885 CATARACT 14, MULTIPLE TYPES; CTRCT14 CATARACT, ZONULAR PULVERULENT 3; CZP3;; CAE3 Asterisk 601886 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 2; ASCL2 ACHAETE-SCUTE HOMOLOG 2; ASH2; HASH2 Number Sign 601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 MHS5 Percent 601888 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6 MHS6 Asterisk 601889 NEUROBEACHIN PSEUDOGENE 1; NBEAP1 B-CELL CLL/LYMPHOMA 8; BCL8;; B-CELL LEUKEMIA 8 Asterisk 601890 PROTEIN-TYROSINE KINASE PTK7; PTK7 COLON CARCINOMA KINASE-4 Asterisk 601891 CYSTATIN 6; CST6 CYSTATIN M;; CYSTATIN M/E Asterisk 601892 KARYOPHERIN ALPHA-3; KPNA3 IMPORTIN ALPHA-4 Asterisk 601893 TRIPLE FUNCTIONAL DOMAIN; TRIO Number Sign 601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2; GFND2 GLOMERULAR NEPHRITIS, FAMILIAL, WITH FIBRONECTIN DEPOSITS;; FIBRONECTIN GLOMERULOPATHY Asterisk 601895 TNF RECEPTOR-ASSOCIATED FACTOR 2; TRAF2 TNF RECEPTOR-ASSOCIATED PROTEIN; TRAP Asterisk 601896 TNF RECEPTOR-ASSOCIATED FACTOR 3; TRAF3 CD40-BINDING PROTEIN; CD40BP;; LMP1-ASSOCIATED PROTEIN 1; LAP1;; CD40-ASSOCIATED PROTEIN 1; CAP1;; CD40 RECEPTOR-ASSOCIATED FACTOR 1; CRAF1 Asterisk 601897 ZINC FINGER PROTEIN 148; ZNF148 ZINC-BINDING PROTEIN 89; ZBP89;; HT-BETA;; ZFP148 Asterisk 601898 GROWTH HORMONE SECRETAGOGUE RECEPTOR; GHSR Asterisk 601899 SIGNAL-TRANSDUCING ADAPTOR MOLECULE 1; STAM SIGNAL-TRANSDUCING ADAPTOR MOLECULE;; STAM1 Asterisk 601900 INTERFERON REGULATORY FACTOR 4; IRF4 LYMPHOCYTE-SPECIFIC IRF; LSIRF;; MULTIPLE MYELOMA ONCOGENE 1; MUM1 Asterisk 601901 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A2; SLC8A2 SODIUM-CALCIUM EXCHANGER 2; NCX2;; KIAA1087 Asterisk 601902 ORIGIN RECOGNITION COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; ORC1 ORC1-LIKE; ORC1L Asterisk 601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B17 Caret 601904 MOVED TO 300899 Asterisk 601905 RAB GERANYLGERANYL TRANSFERASE, ALPHA SUBUNIT; RABGGTA Asterisk 601906 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10B; WNT10B Asterisk 601907 NEOGENIN; NEO1 NGN Asterisk 601908 G PROTEIN-COUPLED RECEPTOR 20; GPR20 Asterisk 601909 G PROTEIN-COUPLED RECEPTOR 21; GPR21 Asterisk 601910 G PROTEIN-COUPLED RECEPTOR 22; GPR22 Asterisk 601911 DISTAL-LESS HOMEOBOX 4; DLX4 DISTAL-LESS HOMEOBOX 7, INCLUDED; DLX7, INCLUDED;; BETA PROTEIN 1, INCLUDED; BP1, INCLUDED Asterisk 601912 SMALL UBIQUITIN-LIKE MODIFIER 1; SUMO1 UBIQUITIN-LIKE 1; UBL1;; SMT3, YEAST, HOMOLOG 3; SMT3H3;; SMT3C;; SENTRIN;; PIC1 Asterisk 601913 arsA ARSENITE TRANSPORTER, ATP-BINDING, E. COLI, HOMOLOG OF, 1; ASNA1 ARSA1;; TRANSMEMBRANE DOMAIN RECOGNITION COMPLEX, 40-KD; TRC40 Asterisk 601914 PROLINE-ARGININE-RICH END LEUCINE-RICH REPEAT PROTEIN; PRELP Asterisk 601915 TISSUE INHIBITOR OF METALLOPROTEINASE 4; TIMP4 Asterisk 601916 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS; ARMET ARGININE-RICH PROTEIN; ARP;; MESENCEPHALIC ASTROCYTE-DERIVED NEUROTROPHIC FACTOR; MANF Asterisk 601917 ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B2; ALDH3B2 ALDEHYDE DEHYDROGENASE 8; ALDH8;; ACETALDEHYDE DEHYDROGENASE 8 Asterisk 601918 GROWTH/DIFFERENTIATION FACTOR 9; GDF9 Asterisk 601919 COAGULATION FACTOR II RECEPTOR-LIKE 2; F2RL2 THROMBIN RECEPTOR-LIKE 2;; PROTEASE-ACTIVATED RECEPTOR 3; PAR3 Asterisk 601920 JAGGED 1; JAG1 JAGL1 Caret 601921 MOVED TO 156535 Asterisk 601922 ANGIOPOIETIN 2; ANGPT2 ANG2 Caret 601923 MOVED TO 601124 Asterisk 601924 COATOMER PROTEIN COMPLEX, SUBUNIT ALPHA; COPA ALPHA COAT PROTEIN COATOMER PROTEIN COMPLEX, INCLUDED; COPI, INCLUDED Asterisk 601925 RHO GDP-DISSOCIATION INHIBITOR ALPHA; ARHGDIA RHOGDI;; GDP-DISSOCIATION INHIBITOR, APLYSIA RAS-RELATED 1; GDIA1 Asterisk 601926 THYROID HORMONE-RESPONSIVE SPOT14, RAT, HOMOLOG OF; THRSP S14 Percent 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES IRONS-BIANCHI SYNDROME;; LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES Asterisk 601928 KERATIN 86, TYPE II; KRT86 K86;; KB26;; K2.11;; KERATIN, HAIR, BASIC, 6; KRTHB6;; KERATIN, HARD, TYPE II, 6; HB6 Asterisk 601929 ATPase, Ca(2+)-TRANSPORTING, UBIQUITOUS; ATP2A3 SARCOPLASMIC RETICULUM Ca(2+)-ATPase 3; SERCA3 Asterisk 601930 BASONUCLIN 1; BNC1 BNC Asterisk 601931 BCL2-LIKE 2; BCL2L2 BCLW Asterisk 601932 MUCIN 8, TRACHEOBRONCHIAL; MUC8 Asterisk 601933 CRYPTOCHROME 1; CRY1 PHOTOLYASE 1; PHLL1 Asterisk 601934 G PROTEIN PATHWAY SUPPRESSOR 1; GPS1 FUS6/COP11, ARABIDOPSIS, HOMOLOG OF;; COP9 SIGNALOSOME, SUBUNIT 1; COPS1; CSN1 Asterisk 601935 G PROTEIN PATHWAY SUPPRESSOR 2; GPS2 Asterisk 601936 PRKC, APOPTOSIS, WT1, REGULATOR; PAWR PROSTATE APOPTOSIS RESPONSE PROTEIN 4; PAR4;; TRANSCRIPTIONAL REPRESSOR PAR4;; WT1-INTERACTING PROTEIN Asterisk 601937 NUCLEAR RECEPTOR COACTIVATOR 3; NCOA3 AMPLIFIED IN BREAST CANCER 1; AIB1;; ACTR;; THYROID HORMONE RECEPTOR ACTIVATOR MOLECULE 1; TRAM1;; STEROID RECEPTOR COACTIVATOR 3; SRC3;; RAC3 Caret 601938 MOVED TO 600523 Asterisk 601939 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 1; SRPK1 PROTEIN KINASE, ARGININE/SERINE-RICH SPLICING FACTOR, 1;; SFRS PROTEIN KINASE 1 Asterisk 601940 SPLICING FACTOR, SERINE/ARGININE-RICH, 4; SRSF4 SERINE/ARGININE-RICH SPLICING FACTOR 4;; SPLICING FACTOR, ARGININE/SERINE-RICH, 4; SFRS4;; SPLICING FACTOR, ARGININE/SERINE-RICH, 75-KD; SRp75 Percent 601941 DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6 INSULIN-DEPENDENT DIABETES MELLITUS 6 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AITD5, INCLUDED Number Sign 601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10 INSULIN-DEPENDENT DIABETES MELLITUS 10 Asterisk 601943 SPLICING FACTOR, SERINE/ARGININE-RICH, 9; SRSF9 SERINE/ARGININE-RICH SPLICING FACTOR 9;; SPLICING FACTOR, ARGININE/SERINE-RICH, 9; SFRS9;; SPLICING FACTOR, ARGININE/SERINE-RICH, 30-KD, C; SRp30c Asterisk 601944 SPLICING FACTOR, SERINE/ARGININE-RICH, 6; SRSF6 SERINE/ARGININE-RICH SPLICING FACTOR 6;; SPLICING FACTOR, ARGININE/SERINE-RICH, 6; SFRS6;; SPLICING FACTOR, ARGININE/SERINE-RICH, 55-KD; SRp55 Asterisk 601945 SPLICING FACTOR, SUPPRESSOR-OF-WHITE-APRICOT FAMILY; SFSWAP SPLICING FACTOR, ARGININE/SERINE-RICH, 8; SFRS8;; SUPPRESSOR-OF-WHITE-APRICOT, DROSOPHILA, HOMOLOG OF; SWAP Caret 601946 MOVED TO 601531 Asterisk 601947 SRY-BOX 12; SOX12 SRY-BOX 22; SOX22 Caret 601948 MOVED TO 601784 Asterisk 601949 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT; CACNB4 Asterisk 601950 ZINC FINGER PROTEIN, MULTITYPE 1; ZFPM1 FRIEND OF GATA1; FOG;; FOG1 Asterisk 601951 CDC-LIKE KINASE 1; CLK1 CLK;; CDC28/CDC2-LIKE KINASE;; PROTEIN-TYROSINE KINASE STY; STY;; CLK/STY Number Sign 601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA; KLICK KLICK SYNDROME Asterisk 601953 CYCLIN H; CCNH CDK-ACTIVATING KINASE;; CYCLIN-DEPENDENT KINASE-ACTIVATING KINASE; CAK Number Sign 601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G Asterisk 601955 CYCLIN-DEPENDENT KINASE 7; CDK7 CELL DIVISION PROTEIN KINASE 7;; MO15, XENOPUS, HOMOLOG OF;; SERINE/THREONINE PROTEIN KINASE 1; STK1;; KINASE SUBUNIT OF CAK; CAK1 Asterisk 601956 GDNF FAMILY RECEPTOR ALPHA-2; GFRA2 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTOR BETA; GDNFRB NULL 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME OTUDP SYNDROME Asterisk 601958 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-3 SUBUNIT; CACNB3 CALCIUM CHANNEL, L TYPE, BETA-3 POLYPEPTIDE; CACNLB3 Asterisk 601959 NEVER IN MITOSIS GENE A-RELATED KINASE 4; NEK4 NIMA-RELATED KINASE 4; NRK2;; SERINE/THREONINE PROTEIN KINASE 2; STK2 Asterisk 601960 CHEMOKINE, CC MOTIF, LIGAND 20; CCL20 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 20; SCYA20;; EXODUS 1;; MACROPHAGE INFLAMMATORY PROTEIN 3-ALPHA; MIP3A;; LARC Asterisk 601961 PROTEIN ARGININE METHYLTRANSFERASE 2; PRMT2 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 1; HRMT1L1;; HMT1-LIKE 1 Asterisk 601962 TAP-BINDING PROTEIN; TAPBP TAPASIN; TPSN; TPN Asterisk 601963 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 1; TTC1 TPR1 Asterisk 601964 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 7; DNAJC7 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 2; TTC2;; TPR2;; DJ11 Asterisk 601965 SPHINGOSINE-1-PHOSPHATE RECEPTOR 3; S1PR3 ENDOTHELIAL DIFFERENTIATION GENE 3; EDG3;; S1P RECEPTOR 3; S1P3 Asterisk 601966 REGULATORY SOLUTE CARRIER PROTEIN, FAMILY 1, MEMBER 1; RSC1A1 RS1 Asterisk 601967 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7B; WNT7B Asterisk 601968 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 2B; WNT2B XWNT2, XENOPUS, HOMOLOG OF;; WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 13, FORMERLY; WNT13, FORMERLY Asterisk 601969 DELETED IN MALIGNANT BRAIN TUMORS 1; DMBT1 SURFACTANT, PULMONARY-ASSOCIATED PROTEIN D-BINDING PROTEIN;; GLYCOPROTEIN 340;; GP340 Asterisk 601970 VASOACTIVE INTESTINAL PEPTIDE RECEPTOR 2; VIPR2 Caret 601971 MOVED TO 600825 Asterisk 601972 RAR-RELATED ORPHAN RECEPTOR B; RORB RAR-RELATED ORPHAN RECEPTOR BETA;; RZR-BETA; RZRB;; RETINOIC ACID-BINDING RECEPTOR BETA Asterisk 601973 RETINOIC ACID RECEPTOR RESPONDER 2; RARRES2 TAZAROTENE-INDUCED GENE 2; TIG2;; CHEMERIN Asterisk 601974 SPHINGOSINE-1-PHOSPHATE RECEPTOR 1; S1PR1 ENDOTHELIAL DIFFERENTIATION GENE 1;; EDG1 S1P RECEPTOR 1; S1P1 Asterisk 601975 PLAKOPHILIN 1; PKP1 NULL 601976 OTOFACIOOSSEOUS-GONADAL SYNDROME Number Sign 601977 THROMBOCYTHEMIA 2; THCYT2 Asterisk 601978 SIGMA NONOPIOID INTRACELLULAR RECEPTOR 1; SIGMAR1 SIGMA RECEPTOR, TYPE 1;; SR31747A-BINDING PROTEIN; SRBP NULL 601979 HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION Asterisk 601980 LIPASE, GASTRIC; LIPF GASTRIC TRIACYLGLYCEROL LIPASE Asterisk 601981 RIBONUCLEASE, RNase A FAMILY, 6; RNASE6 RNase k6 Asterisk 601982 8-OXOGUANINE DNA GLYCOSYLASE; OGG1 8-HYDROXYGUANINE DNA GLYCOSYLASE Asterisk 601983 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 1; MAP4K1 HEMATOPOIETIC PROGENITOR KINASE 1; HPK1 Asterisk 601984 NUCLEAR RECEPTOR COACTIVATOR 4; NCOA4 RET-ACTIVATING GENE ELE1; ELE1;; ANDROGEN RECEPTOR COACTIVATOR, 70-KD; ARA70 PTC3 CHIMERIC ONCOGENE, INCLUDED Asterisk 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6 H4 GENE;; D10S170;; TRANSFORMING SEQUENCE, THYROID 1; TST1 PTC1 CHIMERIC ONCOGENE, INCLUDED;; H4/RET FUSION GENE, INCLUDED;; H4/PDGFRB FUSION GENE, INCLUDED Caret 601986 MOVED TO 601698 Asterisk 601987 CARNITINE PALMITOYLTRANSFERASE I, MUSCLE; CPT1B CPT IB;; CPT I, MUSCLE;; MCCPT1; MCPT1;; KIAA1670 Asterisk 601988 LIM DOMAIN KINASE 2; LIMK2 Asterisk 601989 S100 CALCIUM-BINDING PROTEIN A13; S100A13 Asterisk 601990 TUMOR PROTEIN p73; TP73 p53-RELATED PROTEIN p73; p73;; TRP73, MOUSE, HOMOLOG OF Asterisk 601991 NEUROONCOLOGIC VENTRAL ANTIGEN 2; NOVA2 ASTROCYTIC NOVA1-LIKE GENE; ANOVA Percent 601992 FRIEDREICH ATAXIA 2; FRDA2 Asterisk 601993 NUCLEAR RECEPTOR COACTIVATOR 2; NCOA2 GLUCOCORTICOID RECEPTOR-INTERACTING PROTEIN 1; GRIP1;; TRANSCRIPTIONAL INTERMEDIARY FACTOR 2; TIF2;; p160 STEROID RECEPTOR COACTIVATOR 2; SRC2 TIF2/MOZ FUSION GENE, INCLUDED Asterisk 601994 TRANSFER RNA ARGININE TRR Asterisk 601995 TENASCIN R; TNR RESTRICTIN Caret 601996 MOVED TO 602026 Asterisk 601997 BH3-INTERACTING DOMAIN DEATH AGONIST; BID Asterisk 601998 ESTROGEN-RELATED RECEPTOR, ALPHA; ESRRA ESTROGEN RECEPTOR-LIKE 1; ESRL1;; ESTROGEN-RELATED RECEPTOR 1; ERR1 Asterisk 601999 LIM HOMEOBOX GENE 1; LHX1 LIM1 Asterisk 602000 POLYMERASE I, RNA, SUBUNIT B; POLR1B RPA2;; RPA135;; RPO1-2 Asterisk 602001 NEUROPEPTIDE Y RECEPTOR Y5; NPY5R Asterisk 602002 ZYXIN; ZYX Asterisk 602003 LYMPHOID-RESTRICTED MEMBRANE PROTEIN; LRMP LYMPHOID PROTEIN OF ENDOPLASMIC RETICULUM;; JAW1 Asterisk 602004 PROTEIN-TYROSINE KINASE 6; PTK6 BREAST TUMOR KINASE; BRK;; PROTEIN-TYROSINE KINASE BRK Asterisk 602005 SORTILIN-RELATED RECEPTOR; SORL1 SORLA1;; SORLA;; LR11 Asterisk 602006 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 2; MAPKAPK2 MAPKAP KINASE 2; MK2 Asterisk 602007 V-CRK AVIAN SARCOMA VIRUS CT10 ONCOGENE HOMOLOG-LIKE; CRKL ONCOGENE CRKL Asterisk 602008 IMPORTIN 5; IPO5 RAN-BINDING PROTEIN 5; RANBP5;; KARYOPHERIN BETA-3; KPNB3;; IMPORTIN BETA-3 Asterisk 602009 CYTOCHROME c OXIDASE, SUBUNIT 6A2; COX6A2 CYTOCHROME c OXIDASE, SUBUNIT VIa, POLYPEPTIDE 2 Asterisk 602010 SPLICING FACTOR, SERINE/ARGININE-RICH, 11; SRSF11 SERINE/ARGININE-RICH SPLICING FACTOR 11;; SPLICING FACTOR, ARGININE/SERINE-RICH, 11; SFRS11;; SPLICING FACTOR, ARGININE/SERINE-RICH, 54-KD Asterisk 602011 SUPPRESSOR OF TUMORIGENICITY 11; ST11 PANCREATIC ENDOCRINE TUMOR SUPPRESSOR 1; PETS1 Asterisk 602012 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 2; ENTPD2 CD39-LIKE 1; CD39L1 Asterisk 602013 POLYMERASE II, RNA, SUBUNIT G; POLR2G RPB7, S. CEREVISIAE, HOMOLOG OF Number Sign 602014 HYPOMAGNESEMIA 1, INTESTINAL; HOMG1 HOMG;; HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HSH;; HYPOMAGNESEMIC TETANY;; HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA Asterisk 602015 OUTER DENSE FIBER OF SPERM TAILS 2; ODF2 OUTER DENSE FIBER OF SPERM TAILS, 84-KD; ODF84 CENEXIN 1, INCLUDED;; CENEXIN 1 VARIANT 1, INCLUDED Asterisk 602016 KRUPPEL-LIKE FACTOR 2; KLF2 LUNG KRUPPEL-LIKE ZINC FINGER TRANSCRIPTION FACTOR; LKLF Asterisk 602017 PROTEASOME SUBUNIT, BETA-TYPE, 1; PSMB1 PROTEASOMAL SUBUNIT C5; HC5;; PROTEASOME SUBUNIT BETA-6 Asterisk 602018 NEURTURIN; NRTN NTN Asterisk 602019 SQUALENE EPOXIDASE; SQLE Asterisk 602020 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN G; MAFG Asterisk 602021 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12A; PPP1R12A MYOSIN PHOSPHATASE TARGET SUBUNIT 1; MYPT1;; MYOSIN PHOSPHATASE, MYOSIN-BINDING SUBUNIT Asterisk 602022 MAL-LIKE; MALL BENE PROTEIN; BENE Asterisk 602023 CHLORIDE CHANNEL, KIDNEY, B; CLCNKB CLCKB Asterisk 602024 CHLORIDE CHANNEL, KIDNEY, A; CLCNKA CLCK1 Number Sign 602025 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9 OBESITY, SUSCEPTIBILITY TO Asterisk 602026 PHYTANOYL-CoA HYDROXYLASE; PHYH PAHX;; LNAP1, MOUSE, HOMOLOG OF Asterisk 602027 TELOMERIC REPEAT-BINDING FACTOR 2; TERF2 TRF2 Caret 602028 MOVED TO 601900 Caret 602029 REMOVED FROM DATABASE Asterisk 602030 FUCOSYLTRANSFERASE 7; FUT7 Asterisk 602031 PROTEIN GERANYLGERANYLTRANSFERASE TYPE I, BETA SUBUNIT; PGGT1B Number Sign 602032 ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE; ECTD4 ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE Asterisk 602033 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 1; EML1 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE; EMAPL;; EMAP Asterisk 602034 CORTICOTROPIN-RELEASING HORMONE RECEPTOR 2; CRHR2 CORTICOTROPIN-RELEASING FACTOR RECEPTOR 2; CRFR2;; CRF2 RECEPTOR Asterisk 602035 PROTEIN PHOSPHATASE 4, CATALYTIC SUBUNIT; PPP4C SERINE/THREONINE PROTEIN PHOSPHATASE 4; PP4;; PROTEIN PHOSPHATASE X; PPX Caret 602036 MOVED TO 133200 Asterisk 602037 RAS HOMOLOG GENE FAMILY, MEMBER H; RHOH ARHH;; TRANSLOCATION THREE FOUR; TTF Asterisk 602038 DUAL-SPECIFICITY PHOSPHATASE 8; DUSP8 H1 PHOSPHATASE, VACCINIA VIRUS, HOMOLOG OF; HVH5;; M3/6, MOUSE, HOMOLOG OF Asterisk 602039 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT A; EIF3A EUKARYOTIC TRANSLATION INITIATION FACTOR 3, THETA; EIF3-THETA;; EIF3, p180 SUBUNIT;; EIF3, p170 SUBUNIT;; CYTOPLASMIC PROTEIN p167;; CENTROSOMIN B, MOUSE, HOMOLOG OF;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 10, FORMERLY; EIF3S10, FORMERLY Asterisk 602040 CELL ADHESION MOLECULE, NEURAL, 2; NCAM2 Asterisk 602041 NK3 HOMEOBOX 1; NKX3-1 NKX3.1, MOUSE, HOMOLOG OF;; NK HOMEOBOX, FAMILY 3, MEMBER A; NKX3A;; BAPX2 Asterisk 602042 G PROTEIN-COUPLED RECEPTOR 18; GPR18 Asterisk 602043 G PROTEIN-COUPLED RECEPTOR 31; GPR31 12-(S)-HYDROXYEICOSATETRAENOIC ACID RECEPTOR;; 12-(S)-HETE RECEPTOR;; 12-HETER Asterisk 602044 UNCOUPLING PROTEIN 3; UCP3 Asterisk 602045 RING FINGER PROTEIN 1; RING1 RING1A;; RNF1 Asterisk 602046 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 3; PDIA3 GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58;; ERp57;; ER60 Asterisk 602047 PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B cAMP PHOSPHODIESTERASE, ADIPOCYTE, cGMP-INHIBITED;; HcGIP1, RAT, HOMOLOG OF Asterisk 602048 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1 RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC1;; CED10, C. ELEGANS, HOMOLOG OF Asterisk 602049 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2 RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC2 Asterisk 602050 RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 3; RAC3 RHO FAMILY, SMALL GTP-BINDING PROTEIN RAC3 Asterisk 602051 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 1-LIKE; PIN1L Asterisk 602052 CYCLIN G-ASSOCIATED KINASE; GAK Asterisk 602053 KRUPPEL-LIKE FACTOR 6; KLF6 B CELL-DERIVED 1; BCD1;; PROTOONCOGENE BCD1;; TRANSCRIPTION FACTOR ZF9; ZF9;; CORE PROMOTER ELEMENT-BINDING PROTEIN; COPEB Asterisk 602054 T-BOX 1; TBX1 Asterisk 602055 INSULIN-INDUCED GENE 1; INSIG1 CL6, RAT, HOMOLOG OF Asterisk 602056 DEFENSIN, BETA, 1; DEFB1 Caret 602057 MOVED TO 300256 Asterisk 602058 PROTEASE INHIBITOR 10; PI10 BOMAPIN;; SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 10; SERPINB10 Asterisk 602059 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR Asterisk 602060 TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2 TMPRSS2/ERG FUSION GENE, INCLUDED;; TMPRSS2/ETV1 FUSION GENE, INCLUDED Asterisk 602061 EPIREGULIN; EREG Asterisk 602062 NERVE INJURY-INDUCED PROTEIN 1; NINJ1 NINJURIN Asterisk 602063 TRANSALDOLASE 1; TALDO1 Asterisk 602064 MYOINOSITOL MONOPHOSPHATASE 1; IMPA1 IMPase;; IMPA;; IMP Asterisk 602065 ADENOSINE DEAMINASE, RNA-SPECIFIC, B2; ADARB2 ADENOSINE DEAMINASE, RNA-SPECIFIC, 3; ADAR3;; RNA-EDITING ENZYME 2, RAT, HOMOLOG OF; RED2 Number Sign 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL;; ICCA SYNDROME;; PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS; PKD/IC Caret 602067 MOVED TO 601419 NULL 602068 LEISHMANIASIS, TEGUMENTARY, SUSCEPTIBILITY TO Asterisk 602069 NEUROPILIN 1; NRP1 NPN1; NP1;; NRP;; VASCULAR ENDOTHELIAL GROWTH FACTOR-165 RECEPTOR; VEGF165R;; BLOOD DENDRITIC CELL ANTIGEN 4; BDCA4 Asterisk 602070 NEUROPILIN 2; NRP2 NPN2;; VASCULAR ENDOTHELIAL GROWTH FACTOR-165 RECEPTOR 2; VEGF165R2 Percent 602071 BROAD TERMINAL PHALANGES, FAMILIAL Asterisk 602072 CYTOCHROME c OXIDASE, SUBUNIT 6A1; COX6A1 CYTOCHROME c OXIDASE, SUBUNIT VIa, POLYPEPTIDE 1;; COX6A, LIVER; COX6AL Caret 602073 MOVED TO 601533 Asterisk 602074 DEATH-ASSOCIATED PROTEIN 3; DAP3 MITOCHONDRIAL RIBOSOMAL PROTEIN S29; MRPS29 Asterisk 602075 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1 Asterisk 602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1; TRPV1 VANILLOID RECEPTOR 1; VR1;; CAPSAICIN RECEPTOR Caret 602077 MOVED TO 604292 Number Sign 602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2 FEOM2 LOCUS;; FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, AUTOSOMAL RECESSIVE Number Sign 602079 TRIMETHYLAMINURIA; TMAU FISH-ODOR SYNDROME Number Sign 602080 PAGET DISEASE OF BONE 2, EARLY-ONSET; PDB2 Number Sign 602081 SPEECH-LANGUAGE DISORDER 1; SPCH1 CHILDHOOD APRAXIA OF SPEECH; CAS;; DEVELOPMENTAL VERBAL DYSPRAXIA; DVD;; SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA Number Sign 602082 CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE; CDTB THIEL-BEHNKE CORNEAL DYSTROPHY; TBCD;; CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2;; CORNEAL DYSTROPHY, HONEYCOMB-SHAPED Number Sign 602083 USHER SYNDROME, TYPE IF; USH1F Caret 602084 MOVED TO 601728 Percent 602085 POLYDACTYLY, POSTAXIAL, TYPE A2; PAPA2 POSTAXIAL POLYDACTYLY, TYPE A2 Percent 602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3; ARVC3 Percent 602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; ARVC4 Number Sign 602088 NEPHRONOPHTHISIS 2; NPHP2 NPH2 Number Sign 602089 HEMANGIOMA, CAPILLARY INFANTILE HCI;; HEMANGIOMA, HEREDITARY CAPILLARY Asterisk 602090 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3 LTBP2, FORMERLY Asterisk 602091 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2 LTBP3, FORMERLY Number Sign 602092 DEAFNESS, AUTOSOMAL RECESSIVE 18A; DFNB18A DEAFNESS, AUTOSOMAL RECESSIVE 18; DFNB18 Number Sign 602093 CONE DYSTROPHY 3; COD3 RETINAL CONE DYSTROPHY CONE-ROD DYSTROPHY 14, INCLUDED; CORD14, INCLUDED Caret 602094 MOVED TO 151660 Asterisk 602095 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4 ZINC TRANSPORTER 4; ZNT4 Percent 602096 ALZHEIMER DISEASE 5 AD5;; ALZHEIMER DISEASE, FAMILIAL, 5 Percent 602097 USHER SYNDROME, TYPE IE; USH1E Asterisk 602098 POLO-LIKE KINASE 1; PLK1 POLO-LIKE KINASE; PLK;; SERINE/THREONINE PROTEIN KINASE 13; STPK13 Number Sign 602099 AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5 Asterisk 602100 PBX/KNOTTED 1 HOMEOBOX 1; PKNOX1 PBX-REGULATING PROTEIN 1; PREP1 Asterisk 602101 CLAUDIN 5; CLDN5 TRANSMEMBRANE PROTEIN DELETED IN VELOCARDIOFACIAL SYNDROME; TMVCF Asterisk 602102 SUPPRESSOR OF TY 5, S. CEREVISIAE, HOMOLOG OF; SUPT5H CHROMATIN STRUCTURE REGULATOR, YEAST, HOMOLOG OF; SPT5 Asterisk 602103 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 10; TRAPPC10 TRANSMEMBRANE PROTEIN 1; TMEM1;; EPILEPSY HOLOPROSENCEPHALY CANDIDATE 1; EHOC1 Asterisk 602104 SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2 Asterisk 602105 MutS, E. COLI, HOMOLOG OF, 4; MSH4 Asterisk 602106 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 15; KCNJ15 KIR4.2 NULL 602107 NEUROPATHY, HEREDITARY THERMOSENSITIVE Asterisk 602108 MATRILIN 2; MATN2 Asterisk 602109 MATRILIN 3; MATN3 Asterisk 602110 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC29A2 EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 2; ENT2;; HYDROPHOBIC NUCLEOLAR PROTEIN, 36-KD; HNP36;; DELAYED-EARLY RESPONSE GENE 12; DER12 Number Sign 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE SEMD, MISSOURI TYPE METAPHYSEAL ANADYSPLASIA 1, INCLUDED; MANDP1, INCLUDED Asterisk 602112 METALLOPHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 1; MPPED1 CHROMOSOME 22 OPEN READING FRAME 1; C22ORF1;; ADULT BRAIN PROTEIN 239; 239AB Asterisk 602113 LYSINE-SPECIFIC METHYLTRANSFERASE 2D; KMT2D MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2;; MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 4; MLL4;; ALL1-RELATED GENE; ALR NULL 602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE Asterisk 602115 FIBROBLAST GROWTH FACTOR 10; FGF10 Asterisk 602116 YEATS DOMAIN-CONTAINING PROTEIN 4; YEATS4 GLIOMA-AMPLIFIED SEQUENCE 41; GAS41 Asterisk 602117 NECDIN; NDN Asterisk 602118 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1; CHD1 Asterisk 602119 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2 Asterisk 602120 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 3; CHD3 Mi2-ALPHA;; ZINC FINGER HELICASE; ZFH Asterisk 602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1 DIA1 Asterisk 602122 SIGNAL RECOGNITION PARTICLE, 72-KD; SRP72 Asterisk 602123 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G CaM KINASE II GAMMA SUBUNIT;; CAMKG Percent 602124 DYSTONIA 7, TORSION; DYT7 TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY, INCLUDED Asterisk 602125 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX10; COX10 COX10, S. CEREVISIAE, HOMOLOG OF;; HEME A:FARNESYLTRANSFERASE Asterisk 602126 ZINC FINGER PROTEIN 161, MOUSE, HOMOLOG OF; ZFP161 ZF5, MOUSE, HOMOLOG OF Asterisk 602127 SMOOTHELIN; SMTN Asterisk 602128 GROWTH ARREST-SPECIFIC 2-LIKE 1; GAS2L1 GAS2-RELATED ON CHROMOSOME 22;; GAR22 Asterisk 602129 MYOSIN IXB; MYO9B MYOSIN, RAT, HOMOLOG OF; MYR5 Asterisk 602130 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3; MAPKAPK3 MAPKAP3;; MAPKAP KINASE 3; MK3;; 3PK Asterisk 602131 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 2; PHLDA2 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 3; TSSC3;; TUMOR-SUPPRESSING STF cDNA 3;; IMPRINTED IN PLACENTA AND LIVER; IPL;; BECKWITH-WIEDEMANN REGION 1C; BWR1C Asterisk 602132 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 5; CTAGE5 MENINGIOMA-EXPRESSED ANTIGEN; MGEA;; MENINGIOMA-EXPRESSED ANTIGEN 6; MGEA6; MEA6 Asterisk 602133 PHOSPHORIBOSYLFORMYLGLYCINAMIDINE SYNTHASE; PFAS PHOSPHORIBOSYLFORMYLGLYCINAMIDE AMIDOTRANSFERASE; FGARAT Percent 602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2 Asterisk 602135 DYNEIN, AXONEMAL, LIGHT INTERMEDIATE POLYPEPTIDE 1; DNALI1 INNER DYNEIN ARM, CHLAMYDOMONAS, HOMOLOG OF;; p28 Asterisk 602136 PEROXISOME BIOGENESIS FACTOR 1; PEX1 PEROXIN 1 Asterisk 602137 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2 B8 PROTEIN Asterisk 602138 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 6; NDUFA6 Asterisk 602139 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 7; NDUFA7 Asterisk 602140 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 8; NDUFB8 Asterisk 602141 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT;; TYKY Asterisk 602142 PHOSPHOLIPASE C, DELTA-1; PLCD1 Asterisk 602143 TUMOR PROTEIN p53-BINDING PROTEIN 2; TP53BP2 53BP2;; APOPTOSIS-STIMULATING PROTEIN OF p53, 2; ASPP2 Asterisk 602144 BROMODOMAIN, TESTIS-SPECIFIC; BRDT Asterisk 602145 PROLIFERATION-ASSOCIATED 2G4, 38-KD; PA2G4 ERBB3-BINDING PROTEIN 1; EBP1 Asterisk 602146 LIM HOMEOBOX GENE 4; LHX4 LHX4/IGHG1 FUSION GENE, INCLUDED Caret 602147 REMOVED FROM DATABASE Asterisk 602148 SRY-BOX 1; SOX1 SRY-RELATED HMG-BOX GENE 1 Asterisk 602149 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1 PITUITARY HOMEOBOX 1; PTX1;; BACKFOOT, MOUSE, HOMOLOG OF; BFT;; PITUITARY OTX-RELATED FACTOR; POTX Asterisk 602150 SNAIL FAMILY TRANSCRIPTIONAL REPRESSOR 2; SNAI2 SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAIL2;; SLUG, CHICKEN, HOMOLOG OF; SLUG;; NEURAL CREST TRANSCRIPTION FACTOR SLUG Asterisk 602151 DISHEVELLED 2; DVL2 Number Sign 602152 RHYNS SYNDROME; RHYNS RETINITIS PIGMENTOSA SYNDROME;; RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA Asterisk 602153 KERATIN 81, TYPE II; KRT81 K81;; KB21;; K2.9;; KERATIN, HAIR, BASIC, 1; KRTHB1;; KERATIN, HARD, TYPE II, 1; HB1 Asterisk 602154 NONCODING TRANSCRIPT IN T CELLS NTT Asterisk 602155 UBX DOMAIN PROTEIN 8; UBXN8 REPRODUCTION/CHROMOSOME 8; REP8;; D8S2298E Caret 602156 MOVED TO 601134 Asterisk 602157 NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1 VENTRAL NEURON-SPECIFIC PROTEIN 1;; Ri ANTIGEN Asterisk 602158 CHLORIDE CHANNEL, NUCLEOTIDE SENSITIVE, 1A; CLNS1A CHLORIDE CONDUCTANCE REGULATOR, VOLUME SENSITIVE; ICln Asterisk 602159 CORONIN 2A; CORO2A CORONIN-LIKE PROTEIN B; CLIPINB;; WD REPEAT-CONTAINING PROTEIN 2; WDR2;; IR10 Asterisk 602160 TRANSCRIPTION FACTOR DP2; TFDP2 E2F DIMERIZATION PARTNER 2; DP2 Asterisk 602161 PROTEASOME ACTIVATOR SUBUNIT 2; PSME2 PROTEASOME ACTIVATOR 28-BETA;; PA28-BETA; PA28B;; MCP ACTIVATOR, 31-KD SUBUNIT Asterisk 602162 SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1 SCP1 Asterisk 602163 UBIQUITIN-CONJUGATING ENZYME E2E 2; UBE2E2 Asterisk 602164 5-HYDROXYTRYPTAMINE RECEPTOR 4; HTR4 SEROTONIN 5-HT-4 RECEPTOR;; SEROTONIN 5-HT-4A RECEPTOR;; CARDIAC 5-HT4 RECEPTOR Asterisk 602165 TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27 RET FINGER PROTEIN; RFP Asterisk 602166 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-2 SUBUNIT; AP3B2 ADAPTOR-RELATED PROTEIN COMPLEX 3B, NEURON-SPECIFIC, BETA-3B;; AP3B, BETA-3B;; NEURONAL ADAPTIN-LIKE PROTEIN, BETA SUBUNIT; NAPTB Asterisk 602167 ESTROGEN-RELATED RECEPTOR, BETA; ESRRB ESTROGEN RECEPTOR-LIKE 2; ESRL2;; ESTROGEN-RELATED RECEPTOR 2; ERR2 Asterisk 602168 VACCINIA-RELATED KINASE 1; VRK1 VACCINIA VIRUS B1R-RELATED KINASE 1 Asterisk 602169 VACCINIA-RELATED KINASE 2; VRK2 VACCINIA VIRUS B1R-RELATED KINASE 2 Asterisk 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88 Asterisk 602171 GLYCOPROTEIN A33; GPA33 CELL SURFACE ANTIGEN A33; A33 Asterisk 602172 CYTOCHROME P450, SUBFAMILY VIIIB, POLYPEPTIDE 1; CYP8B1 CYP12;; STEROL 12-ALPHA-HYDROXYLASE Asterisk 602173 SEC62, S. CEREVISIAE, HOMOLOG OF; SEC62 TRANSLOCATION PROTEIN 1, DROSOPHILA, HOMOLOG OF; TLOC1;; HTP1 Asterisk 602174 G PROTEIN-COUPLED RECEPTOR 25; GPR25 Asterisk 602175 PROTEASOME SUBUNIT, BETA-TYPE, 2; PSMB2 PROTEASOME SUBUNIT BETA-4 Asterisk 602176 PROTEASOME SUBUNIT, BETA-TYPE, 3; PSMB3 PROTEASOME SUBUNIT BETA-3 Asterisk 602177 PROTEASOME SUBUNIT, BETA-TYPE, 4; PSMB4 PROTEASOME SUBUNIT BETA-7 Asterisk 602178 CHONDROADHERIN; CHAD Asterisk 602179 HEAT-SHOCK 27-KD PROTEIN 2; HSPB2 Asterisk 602180 SIGNAL-INDUCED PROLIFERATION-ASSOCIATED GENE 1; SIPA1 SPA1 Asterisk 602181 STAPHYLOCOCCAL NUCLEASE DOMAIN- AND TUDOR DOMAIN-CONTAINING PROTEIN 1; SND1 TUDOR-SN; TSN;; EBNA2 COACTIVATOR p100; p100 Asterisk 602182 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 3; ENPP3 PHOSPHODIESTERASE I/NUCLEOTIDE PYROPHOSPHATASE 3; PDNP3 Asterisk 602183 NK3 HOMEOBOX 2; NKX3-2 BAGPIPE HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1; BAPX1;; NKX3.2, MOUSE, HOMOLOG OF Asterisk 602184 NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 3; NDUFV3 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 10-KD SUBUNIT Caret 602185 MOVED TO 600004 Asterisk 602186 VGF, NERVE GROWTH FACTOR-INDUCIBLE; VGF NEUROENDOCRINE REGULATORY PEPTIDE 1, INCLUDED; NERP1, INCLUDED;; NEUROENDOCRINE REGULATORY PEPTIDE 2, INCLUDED; NERP2, INCLUDED Asterisk 602187 ZINC FINGER PROTEIN 195; ZNF195 Asterisk 602188 EPHRIN RECEPTOR EphA4; EPHA4 HEK8;; SEK, MOUSE, HOMOLOG OF;; TYRO1 Asterisk 602189 REGULATOR OF G PROTEIN SIGNALING 3; RGS3 Asterisk 602190 EPHRIN RECEPTOR EphA7; EPHA7 HEK11 Asterisk 602191 E74-LIKE FACTOR 3; ELF3 ETS DOMAIN TRANSCRIPTION FACTOR, SERINE BOX; ESX;; EPITHELIUM-SPECIFIC ETS FACTOR 1; ESE1 Asterisk 602192 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 10; ADAM10 AD10;; KUZBANIAN, DROSOPHILA, HOMOLOG OF; KUZ Asterisk 602193 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC29A1 EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 1; ENT1 Asterisk 602194 HTRA SERINE PEPTIDASE 1; HTRA1 HtrA, E. COLI, HOMOLOG OF; HTRA;; PROTEASE, SERINE, 11; PRSS11 Asterisk 602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1 HEAT-SHOCK PROTEIN 27; HSP27 Percent 602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES SKELETAL DYSPLASIA RELATED TO CAMPOMELIC DYSPLASIA;; CAMPOMELIC DYSPLASIA, MILD NULL 602197 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 CDR3 Asterisk 602198 CDK2-ASSOCIATED PROTEIN 1; CDK2AP1 DELETED IN ORAL CANCER 1; DOC1 Percent 602199 MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY MCKAT DEFICIENCY Percent 602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY Asterisk 602201 EXTRACELLULAR MATRIX PROTEIN 1; ECM1 Asterisk 602202 DOLICHYL-DIPHOSPHOOLIGOSACCHARIDE-PROTEIN GLYCOSYLTRANSFERASE; DDOST OLIGOSACCHARYLTRANSFERASE; OST;; OLIGOSACCHARYLTRANSFERASE, 48-KD; OST48 Asterisk 602203 SARCOLIPIN; SLN Asterisk 602204 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 1; BICD1 Caret 602205 MOVED TO 601805 Asterisk 602206 RAS-ASSOCIATED PROTEIN RAB17; RAB17 Asterisk 602207 RAS-ASSOCIATED PROTEIN RAB18; RAB18 Asterisk 602208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 10; KCNJ10 GLIAL INWARDLY RECTIFYING POTASSIUM CHANNEL Kir4.1 Asterisk 602209 RAS-RESPONSIVE ELEMENT BINDING PROTEIN 1; RREB1 Asterisk 602210 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT E; EIF3E EUKARYOTIC TRANSLATION INITIATION FACTOR 3, 48-KD; EIF3-p48;; ONCOGENE INT6; INT6;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 6, FORMERLY; EIF3S6, FORMERLY MOUSE MAMMARY TUMOR VIRUS INTEGRATION SITE 6, INCLUDED Asterisk 602211 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 17; FKHL17 FORKHEAD-RELATED ACTIVATOR 9; FREAC9 Asterisk 602212 SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 1; SIAH1 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 1 Asterisk 602213 SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 2; SIAH2 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 2 Asterisk 602214 CASEIN KINASE I, GAMMA-2; CSNK1G2 Asterisk 602215 DEFENSIN, BETA, 4A; DEFB4A HBD2;; DEFENSIN, BETA, 4, FORMERLY; DEFB4, FORMERLY;; DEFENSIN, BETA, 2, FORMERLY; DEFB2, FORMERLY Asterisk 602216 SERINE/THREONINE PROTEIN KINASE 11; STK11 LKB1 Asterisk 602217 SYNDECAN-BINDING PROTEIN; SDCBP SYNTENIN;; PRO-TGF-ALPHA CYTOPLASMIC DOMAIN-INTERACTING PROTEIN 18; TACIP18;; MELANOMA DIFFERENTIATION-ASSOCIATED GENE 9; MDA9 Asterisk 602218 SAL-LIKE 1; SALL1 HSAL1 Asterisk 602219 SAL-LIKE 2; SALL2 HSAL2 Asterisk 602220 RAS-LIKE, FAMILY 10, MEMBER A; RASL10A RAS-RELATED ON CHROMOSOME 22; RRP22 Asterisk 602221 ZINC FINGER, MYM-TYPE 2; ZMYM2 ZINC FINGER PROTEIN 198; ZNF198;; REARRANGED IN ATYPICAL MYELOPROLIFERATIVE DISORDER; RAMP;; FUSED IN MYELOPROLIFERATIVE DISORDERS; FIM ZNF198/FGFR1 FUSION GENE, INCLUDED Caret 602222 MOVED TO 602022 Asterisk 602223 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 1; EIF4EBP1 4EBP1 Asterisk 602224 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2; EIF4EBP2 4EBP2 Asterisk 602225 CONE-ROD HOMEOBOX-CONTAINING GENE; CRX Asterisk 602226 CD180 MOLECULE; CD180 CD180 ANTIGEN;; LYMPHOCYTE ANTIGEN 64, RADIOPROTECTIVE, 105-KD; LY64;; RP105, MOUSE, HOMOLOG OF Asterisk 602227 CHEMOKINE, CC MOTIF, LIGAND 19; CCL19 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 19; SCYA19;; EBI1-LIGAND CHEMOKINE; ELC;; MACROPHAGE INFLAMMATORY PROTEIN 3-BETA; MIP3B;; EXODUS 3 Asterisk 602228 TRANSCRIPTION FACTOR 7-LIKE 2; TCF7L2 T-CELL TRANSCRIPTION FACTOR 4, FORMERLY; TCF4, FORMERLY TCF7L2/VTI1A FUSION GENE, INCLUDED Asterisk 602229 SRY-BOX 10; SOX10 SRY-RELATED HMG-BOX GENE 10;; DOMINANT MEGACOLON, MOUSE, HOMOLOG OF; DOM Asterisk 602230 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN; SH3BGR Asterisk 602231 SMALL UBIQUITIN-LIKE MODIFIER 3; SUMO3 SMT3, YEAST, HOMOLOG 1; SMT3H1;; SMT3A Asterisk 602232 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3; KCNQ3 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 3 Asterisk 602233 APOPTOTIC PROTEASE ACTIVATING FACTOR 1; APAF1 Asterisk 602234 CASPASE 9, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP9 APOPTOTIC PROTEASE ACTIVATING FACTOR 3; APAF3 Asterisk 602235 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2; KCNQ2 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 2 Caret 602236 MOVED TO 601880 Caret 602237 MOVED TO 601470 Asterisk 602238 EXOSOME COMPONENT 2; EXOSC2 RIBOSOMAL RNA-PROCESSING PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; RRP4 Asterisk 602239 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 1; CYP26A1 P450, RETINOIC ACID-INACTIVATING, 1; P450RAI1 Asterisk 602240 ZINC FINGER PROTEIN 192; ZNF192 Asterisk 602241 MITOCHONDRIAL INTERMEDIATE PEPTIDASE; MIPEP Asterisk 602242 ADAPTOR-RELATED PROTEIN COMPLEX 2, SIGMA-1 SUBUNIT; AP2S1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 2, 17-KD; CLAPS2;; CLATHRIN ADAPTOR PROTEIN AP17; AP17;; CLATHRIN ADAPTOR COMPLEX AP2, SIGMA SUBUNIT Asterisk 602243 CD151 ANTIGEN; CD151 PLATELET-ENDOTHELIAL CELL TETRASPANIN ANTIGEN 3; PETA3;; SFA1;; RED BLOOD CELL ANTIGEN MER 2; MER2 Asterisk 602244 DEOXYRIBONUCLEASE I-LIKE 3; DNASE1L3 Asterisk 602245 GTP-BINDING PROTEIN 1; GTPBP1 GP1 Asterisk 602246 ZINC FINGER PROTEIN 193; ZNF193 Percent 602247 XANTHOMATOSIS, SUSCEPTIBILITY TO Percent 602248 MALIGNANT ATROPHIC PAPULOSIS DEGOS DISEASE;; PAPULOSIS, MALIGNANT ATROPHIC NULL 602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES Asterisk 602250 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 9; TNFRSF9 INDUCED BY LYMPHOCYTE ACTIVATION; ILA;; CD137;; Ly63, MOUSE, HOMOLOG OF;; 4-1BB, MOUSE, HOMOLOG OF Asterisk 602251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF; TIMM10 TIM10;; TIM10A NULL 602252 MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF Asterisk 602253 KRUPPEL-LIKE FACTOR 4; KLF4 ENDOTHELIAL KRUPPEL-LIKE ZINC FINGER PROTEIN; EZF;; GUT-ENRICHED KRUPPEL-LIKE FACTOR; GKLF Asterisk 602254 SRR1 DOMAIN-CONTAINING PROTEIN; SRRD HEPATOCELLULAR CARCINOMA COMPLICATING HEMOCHROMATOSIS;; HC/HCC Asterisk 602255 SERINE/THREONINE PROTEIN KINASE 25; STK25 STERILE 20/OXIDANT STRESS-RESPONSE KINASE 1; SOK1;; YEAST SPS1/STE20-RELATED KINASE 1; YSK1 Asterisk 602256 PROTEIN PHOSPHATASE, EF-HAND CALCIUM-BINDING DOMAIN 2; PPEF2 Asterisk 602257 SCAVENGER RECEPTOR CLASS B, MEMBER 2; SCARB2 CD36 ANTIGEN-LIKE 2; CD36L2;; LYSOSOMAL INTEGRAL MEMBRANE PROTEIN II; LIMPII; LIMP2 Caret 602258 MOVED TO 601040 Asterisk 602259 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; TTC3 TETRATRICOPEPTIDE REPEAT DOMAIN IN THE DOWN SYNDROME REGION; TPRD;; DCRR1 Asterisk 602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1 RIGUI;; PER PER1/ETV6 FUSION GENE, INCLUDED Asterisk 602261 MATRIX METALLOPROTEINASE 15; MMP15 MATRIX METALLOPROTEINASE 15, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 2; MT2-MMP Asterisk 602262 MATRIX METALLOPROTEINASE 16; MMP16 MATRIX METALLOPROTEINASE 16, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 3; MT3-MMP Caret 602263 MOVED TO 601807 Asterisk 602264 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN; SPOCK1 SPOCK;; TESTICAN Asterisk 602265 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 9; NEDD9 HUMAN ENHANCER OF FILAMENTATION 1; HEF1;; CRK-ASSOCIATED SUBSTRATE-RELATED PROTEIN; CASL Caret 602266 MOVED TO 300135 Asterisk 602267 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 8; ADAM8 HUMAN LEUKOCYTE DIFFERENTIATION ANTIGEN; CD156 Asterisk 602268 AMINE OXIDASE, COPPER-CONTAINING, 2; AOC2 RETINA-SPECIFIC AMINE OXIDASE; RAO Asterisk 602269 ARMADILLO REPEAT GENE DELETED IN VCFS; ARVCF Asterisk 602270 ANTIOXIDANT PROTEIN 1; ATOX1 ATX, YEAST, HOMOLOG OF, 1; HAH1 Number Sign 602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL; SMDAX SMD, AXIAL;; AXIAL SMD Asterisk 602272 TRANSCRIPTION FACTOR 4; TCF4 IMMUNOGLOBULIN TRANSCRIPTION FACTOR 2; ITF2;; SEF2-1B;; SEF2;; E2-2 Asterisk 602273 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 1; GALNT1 GalNAc TRANSFERASE 1; GalNAcT1 Asterisk 602274 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 2; GALNT2 GalNAc TRANSFERASE 2; GalNAcT2 Asterisk 602275 GUANYLATE CYCLASE ACTIVATOR 1B; GUCA1B GUANYLATE CYCLASE-ACTIVATING PROTEIN, PHOTORECEPTOR 2; GCAP2;; GUANYLIN 2, RETINA; GUCA2 Asterisk 602276 TRANSCRIPTIONAL ADAPTOR 2A; TADA2A TRANSCRIPTIONAL ADAPTOR 2-LIKE; TADA2L;; ADA2, YEAST, HOMOLOG OF, ALPHA;; ADA2-ALPHA; ADA2A Asterisk 602277 ZINC FINGER PROTEIN 184; ZNF184 Asterisk 602278 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 4; NEDD4 KIAA0093 Asterisk 602279 POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1 POLYADENYLATE-BINDING PROTEIN 2; PABP2; PAB2;; POLY(A)-BINDING PROTEIN 2 Asterisk 602280 TUBBY-LIKE PROTEIN 1; TULP1 Asterisk 602281 MILK FAT GLOBULE-EGF FACTOR 8; MFGE8 LACTADHERIN;; SECRETED EGF REPEAT AND DISCOIDIN DOMAINS-CONTAINING PROTEIN 1; SED1 MEDIN, INCLUDED Asterisk 602282 LYSOPHOSPHATIDIC ACID RECEPTOR 1; LPAR1 ENDOTHELIAL DIFFERENTIATION GENE 2; EDG2;; LYSOPHOSPHATIDIC ACID RECEPTOR EDG2;; LPA RECEPTOR EDG2;; LPA1;; VENTRICULAR ZONE GENE 1; VZG1 Asterisk 602283 CHEMOKINE, CC MOTIF, LIGAND 8; CCL8 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 8; SCYA8;; MONOCYTE CHEMOTACTIC PROTEIN 2; MCP2 Asterisk 602284 BONE MORPHOGENETIC PROTEIN 8B; BMP8B BMP8;; OSTEOGENIC PROTEIN 2; OP2 Asterisk 602285 MATRIX METALLOPROTEINASE 17; MMP17 MATRIX METALLOPROTEINASE 17, MEMBRANE-TYPE;; MEMBRANE-TYPE MATRIX METALLOPROTEINASE 4; MT4-MMP Asterisk 602286 STEROL C5-DESATURASE-LIKE; SC5DL STEROL C5-DESATURASE; SC5D;; 3-BETA-HYDROXYSTEROID-DELTA-5-DESATURASE;; DELTA-5-DESATURASE;; LATHOSTEROL DEHYDROGENASE;; ERG3, CANDIDA GLABRATA, HOMOLOG OF Asterisk 602287 ENDOPLASMIC RETICULUM PROTEIN, 29-KD; ERP29 CHROMOSOME 12 OPEN READING FRAME 8; C12ORF8;; ERp29;; ERP28 Asterisk 602288 RHOTEKIN; RTKN Asterisk 602289 DR1-ASSOCIATED PROTEIN 1; DRAP1 NEGATIVE COFACTOR 2-ALPHA;; NC2-ALPHA Asterisk 602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32 TAT-INTERACTING PROTEIN, 72-KD;; HT2A;; BBS11 GENE; BBS11 Asterisk 602291 FORKHEAD BOX J1; FOXJ1 FORKHEAD, DROSOPHILA, HOMOLOG OF, 13; FKHL13;; HFH4 Asterisk 602292 ENOYL-CoA HYDRATASE, SHORT-CHAIN, 1, MITOCHONDRIAL; ECHS1 SHORT-CHAIN ENOYL-CoA HYDRATASE; SCEH Asterisk 602293 CALCIUM- AND INTEGRIN-BINDING PROTEIN 1; CIB1 CIB;; KINASE-INTERACTING PROTEIN 1; KIP1;; KIP;; CALMYRIN Asterisk 602294 FORKHEAD BOX A1; FOXA1 HEPATOCYTE NUCLEAR FACTOR 3-ALPHA; HNF3A Asterisk 602295 FORKHEAD BOX A3; FOXA3 HEPATOCYTE NUCLEAR FACTOR 3-GAMMA; HNF3G Asterisk 602296 ADAPTOR-RELATED PROTEIN COMPLEX 4, MU-1 SUBUNIT; AP4M1 MU-ADAPTIN-RELATED PROTEIN 2;; MU-ARP2 Asterisk 602297 EPHRIN B3; EFNB3 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 8; EPLG8;; LIGAND OF EPH-RELATED KINASE 8; LERK8;; EFL6 Asterisk 602298 RAS-ASSOCIATED PROTEIN RAB7; RAB7 Caret 602299 MOVED TO 300284 Asterisk 602300 GALACTOSE-3-O-SULFOTRANSFERASE 1; GAL3ST1 CEREBROSIDE SULFOTRANSFERASE; CST;; 3-PRIME-PHOSPHOADENYLYLSULFATE:GALACTOSYLCERAMIDE 3-PRIME-SULFOTRANSFERASE;; GalCer SULFOTRANSFERASE;; GALACTOSYLCERAMIDE 3-PRIME SULFOTRANSFERASE Asterisk 602301 LYSINE ACETYLTRANSFERASE 2A; KAT2A GCN5;; GENERAL CONTROL OF AMINO ACID SYNTHESIS, YEAST, HOMOLOG-LIKE 2; GCN5L2 Asterisk 602302 HAIRLESS, MOUSE, HOMOLOG OF; HR Asterisk 602303 LYSINE ACETYLTRANSFERASE 2B; KAT2B CREBBP-ASSOCIATED FACTOR; CAF;; p300/CBP-ASSOCIATED FACTOR; PCAF;; P/CAF Asterisk 602304 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 2; NR1D2 REV-ERBA-ALPHA-RELATED RECEPTOR; RVR;; REV-ERBA-BETA;; REV-ERB-BETA;; BD73 Caret 602305 MOVED TO 602162 Asterisk 602306 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 2; RGL2 RAS-ASSOCIATED PROTEIN RAB2L; RAB2L Asterisk 602307 WW DOMAIN-CONTAINING PROTEIN 1; WWP1 WW DOMAIN-CONTAINING E3 UBIQUITIN PROTEIN LIGASE 1;; TGIF-INTERACTING UBIQUITIN LIGASE 1; TIUL1 Asterisk 602308 WW DOMAIN-CONTAINING PROTEIN 2; WWP2 WW DOMAIN-CONTAINING E3 UBIQUITIN PROTEIN LIGASE 2 Asterisk 602309 TUBBY-LIKE PROTEIN 2; TULP2 Asterisk 602310 RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 1; RBMS1 MYC SINGLE-STRAND BINDING PROTEIN; MSSP;; SCR2 Asterisk 602311 AGOUTI-RELATED PROTEIN, MOUSE, HOMOLOG OF; AGRP AGOUTI-RELATED TRANSCRIPT, MOUSE, HOMOLOG OF; AGRT; ART Caret 602312 MOVED TO 142711 Asterisk 602313 OVO-LIKE 1; OVOL1 OVO, DROSOPHILA, HOMOLOG OF, 1 Asterisk 602314 LADININ 1; LAD1 LINEAR IgA DISEASE ANTIGEN Asterisk 602315 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 3; MAP2K3 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 3; PRKMK3;; MKK3; MAPKK3;; MAPK/ERK KINASE 3; MEK3 Asterisk 602316 PEROXIREDOXIN 6; PRDX6 PHOSPHOLIPASE A2, LYSOSOMAL Asterisk 602317 SH3 AND CYSTEINE-RICH DOMAINS 1; STAC1 STAC Asterisk 602318 TRANSCRIPTION TERMINATION FACTOR 1, MITOCHONDRIAL; MTERF1 MTERF Asterisk 602319 NEL-LIKE 1; NELL1 Asterisk 602320 NEL-LIKE 2; NELL2 Asterisk 602321 GLUTATHIONE S-TRANSFERASE, KAPPA-1; GSTK1 GLUTATHIONE S-TRANSFERASE K1;; GST13-13, RAT, HOMOLOG OF Asterisk 602322 TELOMERASE RNA COMPONENT; TERC TELOMERASE RNA CANDIDATE 3; TRC3;; TR Asterisk 602323 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 12; KCNJ12 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, INHIBITOR 1; KCNJN1;; INWARDLY RECTIFYING POTASSIUM CHANNEL Kir2.2 Asterisk 602324 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H3; HNRNPH3 HNRPH3;; 2H9 Asterisk 602325 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 2; EIF4G2 EUKARYOTIC TRANSLATION INITIATION FACTOR 4G-LIKE 1;; p97;; DEATH-ASSOCIATED PROTEIN 5; DAP5 Asterisk 602326 RIBOSOMAL PROTEIN L23A; RPL23A Asterisk 602327 PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN; PSD TYL;; EXCHANGE FACTOR FOR ARF6; EFA6;; EFA6A Caret 602328 MOVED TO 300118 Asterisk 602329 SUPPRESSOR OF LIN12-LIKE; SEL1L SEL1-LIKE Asterisk 602330 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 1; ABLIM1 ABLIM;; LIM ACTIN-BINDING PROTEIN 1; LIMAB1;; LIMATIN Asterisk 602331 ORIGIN RECOGNITION COMPLEX, SUBUNIT 5, S. CEREVISIAE, HOMOLOG OF; ORC5 ORC5-LIKE; ORC5L Asterisk 602332 NON-SMC CONDENSIN I COMPLEX SUBUNIT H; NCAPH CONDENSIN I COMPLEX, NON-SMC SUBUNIT H;; CHROMOSOME-ASSOCIATED PROTEIN H; CAPH;; BARREN, DROSOPHILA, HOMOLOG OF, 1; BRRN1 Asterisk 602333 EPITHELIAL MEMBRANE PROTEIN 1; EMP1 TUMOR-ASSOCIATED MEMBRANE PROTEIN; TMP Asterisk 602334 EPITHELIAL MEMBRANE PROTEIN 2; EMP2 Asterisk 602335 EPITHELIAL MEMBRANE PROTEIN 3; EMP3 Asterisk 602336 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 1; ROR1 NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 1; NTRKR1 Asterisk 602337 RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTOR 2; ROR2 NEUROTROPHIC TYROSINE KINASE, RECEPTOR-RELATED 2; NTRKR2 Asterisk 602338 PRECURSOR mRNA-PROCESSING FACTOR 4, S. POMBE, HOMOLOG OF, B; PRPF4B PRP4, YEAST, HOMOLOG OF Asterisk 602339 SOLUTE CARRIER FAMILY 15 (H+/PEPTIDE TRANSPORTER), MEMBER 2; SLC15A2 HYDROGEN ION/PEPTIDE COTRANSPORTER, KIDNEY; PEPT2 NULL 602340 SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH Asterisk 602341 FORKHEAD BOX M1; FOXM1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 16; FKHL16;; FORKHEAD BOX M1B TRANSCRIPTION FACTOR; FOXM1B;; HFH11;; TRIDENT Number Sign 602342 PIERPONT SYNDROME; PRPTS PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY Asterisk 602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1; TRPC1 TRANSIENT RECEPTOR POTENTIAL CHANNEL 1;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 1; TRP1 Asterisk 602344 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE 2; PAFAH2 Asterisk 602345 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 3; TRPC3 TRANSIENT RECEPTOR POTENTIAL CHANNEL 3;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 3; TRP3 Asterisk 602346 CONTACTIN-ASSOCIATED PROTEIN 1; CNTNAP1 CONTACTIN-ASSOCIATED PROTEIN; CASPR;; CONTACTIN-ASSOCIATED TRANSMEMBRANE RECEPTOR;; p190;; NEUREXIN IV; NRXN4;; PARANODIN;; NCP1 Number Sign 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3 MDR3 DEFICIENCY;; CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE Asterisk 602348 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 3; SNAPC3 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 50-KD SUBUNIT; SNAP50;; PSE-BINDING TRANSCRIPTION FACTOR, BETA;; PTF-BETA Asterisk 602349 NETRIN 3; NTN3 NETRIN 2, CHICKEN, HOMOLOG-LIKE; NTN2L Asterisk 602350 NEUROGRANIN; NRGN PROTEIN KINASE C SUBSTRATE RC3 Asterisk 602351 CHEMOKINE-LIKE RECEPTOR 1; CMKLR1 CHEMR23;; CHEMERIN RECEPTOR; CHEMERINR Asterisk 602352 GONADOTROPIN-RELEASING HORMONE 2; GNRH2 Asterisk 602353 TRANSFORMING GROWTH FACTOR, BETA-1-INDUCED 1; TGFB1I1 TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 55-KD;; ANDROGEN RECEPTOR COACTIVATOR; ARA55;; HIC5 Asterisk 602354 LINKER FOR ACTIVATION OF T CELLS; LAT Asterisk 602355 TNF RECEPTOR-ASSOCIATED FACTOR 6; TRAF6 Asterisk 602356 TNF RECEPTOR-ASSOCIATED FACTOR 5; TRAF5 Asterisk 602357 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 1; WIPF1 WISKOTT-ALDRICH SYNDROME PROTEIN-INTERACTING PROTEIN; WASPIP;; WASP-INTERACTING PROTEIN; WIP Asterisk 602358 HYPOCRETIN; HCRT OREXIN; OX;; PREPROOREXIN OREXIN A, INCLUDED;; OREXIN B, INCLUDED;; HYPOCRETIN 1, INCLUDED; HCRT1, INCLUDED;; HYPOCRETIN 2, INCLUDED; HCRT2, INCLUDED Asterisk 602359 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 1; FXYD1 PHOSPHOLEMMAN; PLM Asterisk 602360 L-ARGININE:GLYCINE AMIDINOTRANSFERASE; GATM AGAT Number Sign 602361 GRACILE BONE DYSPLASIA; GCLEB SKELETAL DYSPLASIA, LETHAL, WITH GRACILE BONES;; OSTEOCRANIOSPLENIC SYNDROME;; OSTEOCRANIOSTENOSIS;; HABRODYSPLASIA Asterisk 602362 GTPase-ACTIVATING PROTEIN, RAN, 1; RANGAP1 RAN GTPase-ACTIVATING PROTEIN 1 Caret 602363 MOVED TO 225500 Asterisk 602364 CATHEPSIN W; CTSW Asterisk 602365 CATHEPSIN C; CTSC DIPEPTIDYL PEPTIDASE I; DPPI Asterisk 602366 INTEGRIN-LINKED KINASE; ILK p59 Asterisk 602367 PENTRAXIN I, NEURONAL; NPTX1 NP1 Asterisk 602368 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 2; GRID2 Asterisk 602369 CYSTEINE-RICH, ANGIOGENIC INDUCER, 61; CYR61 CYSTEINE-RICH PROTEIN 61, MOUSE, HOMOLOG OF;; INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 10; IGFBP10;; CCN FAMILY, MEMBER 1; CCN1 Asterisk 602370 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED MOLECULE-LIKE PROTEIN; GML Asterisk 602371 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 3; ACSL3 FATTY ACID CoA LIGASE, LONG CHAIN 3; FACL3;; ACYL-CoA SYNTHETASE 3; ACS3 Asterisk 602372 ZONADHESIN; ZAN Asterisk 602373 CALPONIN 2; CNN2 CALPONIN, NEUTRAL, NON-SMOOTH MUSCLE;; CALPONIN H2, MOUSE, HOMOLOG OF Asterisk 602374 CALPONIN 3; CNN3 CALPONIN, ACIDIC Asterisk 602375 MITOCHONDRIAL RIBOSOMAL PROTEIN L12; MRPL12 RIBOSOMAL PROTEIN, MITOCHONDRIAL, L12; RPML12;; L12 RIBOSOMAL PROTEIN, BACTERIA, HOMOLOG OF Asterisk 602376 INTERFERON-ALPHA, -BETA, AND -OMEGA RECEPTOR 2; IFNAR2 Asterisk 602377 DYNAMIN 1; DNM1 Asterisk 602378 DYNAMIN 2; DNM2 DYN2 Caret 602379 MOVED TO 300141 Asterisk 602380 UROPLAKIN 1B; UPK1B Asterisk 602381 NGFIA-BINDING PROTEIN 2; NAB2 EGR1-BINDING PROTEIN 2 NAB2/STAT6 FUSION GENE, INCLUDED Asterisk 602382 PHOSPHOLIPASE D1, PHOSPHATIDYLCHOLINE-SPECIFIC; PLD1 Asterisk 602383 OSTEOGLYCIN; OGN OSTEOINDUCTIVE FACTOR; OIF;; MIMECAN Asterisk 602384 PHOSPHOLIPASE D2; PLD2 Asterisk 602385 SULFOTRANSFERASE FAMILY 1C, MEMBER 2; SULT1C2 SULFOTRANSFERASE FAMILY 1C, MEMBER 1, FORMERLY; SULT1C1, FORMERLY;; SULFOTRANSFERASE 1C1, FORMERLY Asterisk 602386 ZINC FINGER PROTEIN 212; ZNF212 ZINC FINGER PROTEIN C2H2-150 Asterisk 602387 RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 2; RBMS2 SCR3 Asterisk 602388 SYMPLEKIN; SYMPK SPK Asterisk 602389 Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM MITOCHONDRIAL TRANSLATION ELONGATION FACTOR Tu;; EF-Tu, MITOCHONDRIAL;; EF-TuMT Number Sign 602390 HEMOCHROMATOSIS, TYPE 2A; HFE2A HEMOCHROMATOSIS, TYPE 2, INCLUDED; HFE2, INCLUDED;; HEMOCHROMATOSIS, JUVENILE, INCLUDED; JH, INCLUDED Asterisk 602391 PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE; PEMT PEMPT PEMT1, INCLUDED;; PEMT2, INCLUDED Asterisk 602392 HYPOCRETIN RECEPTOR 1; HCRTR1 OREXIN 1 RECEPTOR; OX1R;; OREXIN A RECEPTOR Asterisk 602393 HYPOCRETIN RECEPTOR 2; HCRTR2 OREXIN 2 RECEPTOR; OX2R;; OREXIN A/OREXIN B RECEPTOR;; OREXIN RECEPTOR Asterisk 602394 NUCLEOLAR AND COILED-BODY PHOSPHOPROTEIN 1; NOLC1 NUCLEOLAR PROTEIN, 130-KD; p130;; NOPP140 Asterisk 602395 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL; GPAM GPAT, MITOCHONDRIAL;; GPAT1 Asterisk 602396 ANNEXIN A8; ANXA8 ANNEXIN VIII; ANX8 Asterisk 602397 ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1 FIC GENE 1; FIC1 Number Sign 602398 DESMOSTEROLOSIS Asterisk 602399 MITOGEN-ACTIVATED PROTEIN KINASE 12; MAPK12 STRESS-ACTIVATED PROTEIN KINASE 3; SAPK3;; EXTRACELLULAR SIGNAL-REGULATED KINASE 6; ERK6;; p38-GAMMA Number Sign 602400 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; ARIH;; ICHTHYOSIS AND FOLLICULAR ATROPHODERMA WITH HYPOTRICHOSIS AND HYPOHIDROSIS; IFAH Percent 602401 ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE; ECTD8 Asterisk 602402 FORKHEAD BOX C2; FOXC2 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 14; FKHL14;; MESENCHYME FORKHEAD 1; MFH1 Asterisk 602403 BLEOMYCIN HYDROLASE; BLMH BMH Percent 602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT; PARK3 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY Caret 602405 MOVED TO 600910 Asterisk 602406 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 1; HAND1 HLH TRANSCRIPTION FACTOR HAND1;; EHAND Asterisk 602407 HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2 HLH TRANSCRIPTION FACTOR HAND2;; DECIDUUM, HEART, AUTONOMIC NERVOUS SYSTEM, NEURAL CREST-DERIVED; DHAND2;; DHAND Asterisk 602408 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1 THYROID HORMONE RECEPTOR, ALPHA-1-LIKE; THRAL;; REV-ERBA-ALPHA;; REV-ERB-ALPHA;; ERBA-RELATED 1; EAR1 Asterisk 602409 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 10; MLLT10 ALL1-FUSED GENE FROM CHROMOSOME 10; AF10 AF10/MLL FUSION GENE, INCLUDED;; AF10/HEAB FUSION GENE, INCLUDED Asterisk 602410 BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN; BRPF1 BROMODOMAIN-CONTAINING PROTEIN, 140-KD; BR140;; PEREGRIN Asterisk 602411 EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 2; EXTL2 EXOSTOSIN-LIKE 2;; MULTIPLE EXOSTOSES-LIKE 2;; EXT-RELATED GENE 2; EXTR2 Asterisk 602412 RIBOSOMAL PROTEIN S24; RPS24 Asterisk 602413 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN, 15-KD; SDHC SUCCINATE DEHYDROGENASE 3, INTEGRAL MEMBRANE SUBUNIT; SDH3;; SUCCINATE DEHYDROGENASE CYTOCHROME b Asterisk 602414 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 1; APBA1 X11;; X11-ALPHA;; D9S411E;; MUNC18-1-INTERACTING PROTEIN 1; MINT1;; VERTEBRATE LIN10 HOMOLOG; LIN10 Asterisk 602415 DYSTROBREVIN, BETA; DTNB Asterisk 602416 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-2 SUBUNIT; AP3S2 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 4, 22-KD;; CLATHRIN ADAPTOR COMPLEX AP3, SIGMA-3B SUBUNIT Caret 602417 MOVED TO 602974 NULL 602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME Asterisk 602419 EARLY GROWTH RESPONSE 3; EGR3 Asterisk 602420 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 10; KCNA10 Asterisk 602421 CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 7; ABCC7 Asterisk 602422 STEM-LOOP BINDING PROTEIN; SLBP HAIRPIN BINDING PROTEIN, HISTONE; HBP Asterisk 602423 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3 LIVER X RECEPTOR, ALPHA;; LX RECEPTOR, ALPHA; LXRA Asterisk 602424 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1 DM-DOMAIN GENE EXPRESSED IN TESTIS; DMT1 Asterisk 602425 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 4; MAP3K4 MAP/ERK KINASE KINASE 4; MEKK4;; MAP THREE KINASE 1; MTK1;; MAPKKK4;; SSK2/SSK22 MAP KINASE KINASE KINASE, YEAST, HOMOLOG OF;; KIAA0213 Asterisk 602426 NUCLEAR VALOSIN-CONTAINING PROTEIN-LIKE; NVL NUCLEAR VCP-LIKE Asterisk 602427 T-BOX 6; TBX6 Asterisk 602428 HYALURONAN SYNTHASE 3; HAS3 Percent 602429 GLAUCOMA 1, OPEN ANGLE, D; GLC1D GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET Asterisk 602430 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1 SAX3, C. ELEGANS, HOMOLOG OF, 1 DELETED IN U TWENTY TWENTY, INCLUDED; DUTT1, INCLUDED Asterisk 602431 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2 SAX3, C. ELEGANS, HOMOLOG OF, 2;; KIAA1568 Asterisk 602432 OPTINEURIN; OPTN 14.7K-INTERACTING PROTEIN; FIP2;; HYPL;; TRANSCRIPTION FACTOR IIIA-INTERACTING PROTEIN;; TFIIIA-INTP;; NEMO-RELATED PROTEIN; NRP;; GLC1E GENE Number Sign 602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES Asterisk 602434 ANCIENT UBIQUITOUS PROTEIN 1; AUP1 Asterisk 602435 PEPTIDYL-PROLYL ISOMERASE E; PPIE CYCLOPHILIN, 33-KD; CYP33;; CYCLOPHILIN E Asterisk 602436 MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN-RELATED GENE B; MICB Asterisk 602437 GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GCHFR GFRP Asterisk 602438 HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4 Caret 602439 MOVED TO 601626 Percent 602440 AMYOTROPHY, MONOMELIC HIRAYAMA DISEASE;; SPINAL MUSCULAR ATROPHY, JUVENILE, NONPROGRESSIVE Asterisk 602441 CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN; CISH CIS Asterisk 602442 INTERSECTIN 1; ITSN1 ITSN;; SH3 DOMAIN PROTEIN 1A; SH3D1A;; SRC HOMOLOGY 3 DOMAIN-CONTAINING PROTEIN;; SH3P17 Asterisk 602443 X-PROLYL AMINOPEPTIDASE 1; XPNPEP1 X-PROLYL AMINOPEPTIDASE-LIKE; XPNPEPL;; AMINOPEPTIDASE P-LIKE;; AMINOPEPTIDASE P, SOLUBLE; SAMP;; AMINOPEPTIDASE P, CYTOSOLIC;; APP1 Asterisk 602444 TRANSCRIPTION FACTOR 17; TCF17 KID1, RAT, HOMOLOG OF Asterisk 602445 SERINE PROTEASE INHIBITOR, CLADE I, MEMBER 1; SERPINI1 PROTEASE INHIBITOR 12; PI12;; NEUROSERPIN Asterisk 602446 GLYPICAN 5; GPC5 Asterisk 602447 PARAOXONASE 2; PON2 Asterisk 602448 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5 MAP/ERK KINASE KINASE 5; MEKK5;; MAPKKK5;; APOPTOSIS SIGNAL-REGULATING KINASE 1; ASK1 Asterisk 602449 A-KINASE ANCHOR PROTEIN 1; AKAP1 A-KINASE ANCHOR PROTEIN, 149-KD; AKAP149;; SPERMATID A-KINASE ANCHOR PROTEIN 84; SAKAP84 Number Sign 602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION RS-SCID;; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED;; ATHABASKAN SEVERE COMBINED IMMUNODEFICIENCY, INCLUDED;; SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL, INCLUDED Asterisk 602451 PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 6; P2RY6 PURINOCEPTOR P2Y6; P2Y6 Asterisk 602452 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF; BUB1 BUB1, S. CEREVISIAE, HOMOLOG OF;; MITOTIC CHECKPOINT GENE BUB1;; BUB1A Asterisk 602453 INTEGRIN, ALPHA-D; ITGAD CD11D Asterisk 602454 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, U; PTPRU PROTEIN-TYROSINE PHOSPHATASE J; PTPJ;; PANCREATIC CARCINOMA PHOSPHATASE 2; PCP2;; PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, PSI;; PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, LAMBDA, MOUSE, HOMOLOG OF Caret 602455 MOVED TO 605271 Caret 602456 REMOVED FROM DATABASE Asterisk 602457 FAS-ASSOCIATED VIA DEATH DOMAIN; FADD FAS-ASSOCIATING PROTEIN WITH DEATH DOMAIN;; MORT1 Asterisk 602458 SORTILIN; SORT1 NEUROTENSIN RECEPTOR 3; NTSR3; NT3;; NEUROTENSIN RECEPTOR, 100-KD SORT1 TRANSCRIPTION FACTOR BINDING SITE 1, INCLUDED;; SORT1-TBS1, INCLUDED Number Sign 602459 DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15 Asterisk 602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3 POU-DOMAIN TRANSCRIPTION FACTOR BRN3C; BRN3C;; BRN3.1, MOUSE, HOMOLOG OF Asterisk 602461 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, SUBSTRATE 1; PTPNS1 SIGNAL REGULATORY PROTEIN, ALPHA TYPE, 1;; SIRP-ALPHA-1;; SIRPA;; SHP SUBSTRATE 1; SHPS1;; TYROSINE PHOSPHATASE SHP SUBSTRATE 1;; P84;; MYD1;; MACROPHAGE FUSION RECEPTOR, MFR Asterisk 602462 COLLAPSIN RESPONSE MEDIATOR PROTEIN 1; CRMP1 DIHYDROPYRIMIDINASE-LIKE 1; DPYSL1;; DIHYDROPYRIMIDINASE-RELATED PROTEIN 1; DRP1 Asterisk 602463 DIHYDROPYRIMIDINASE-LIKE 2; DPYSL2 DIHYDROPYRIMIDINASE-RELATED PROTEIN 2; DRP2;; COLLAPSIN RESPONSE MEDIATOR PROTEIN 2; CRMP2 Asterisk 602464 TNF RECEPTOR-ASSOCIATED FACTOR 4; TRAF4 MALIGNANT 62; MLN62;; CYSTEINE-RICH DOMAIN ASSOCIATED WITH RING AND TRAF DOMAINS; CART1 Asterisk 602465 SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1 Asterisk 602466 SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2 Caret 602467 MOVED TO 300531 Asterisk 602468 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9A; PPP1R9A NEURABIN I; NRBI; NRB1;; KIAA1222 Asterisk 602469 FOLATE RECEPTOR 3; FOLR3 FOLATE RECEPTOR, GAMMA Asterisk 602470 PROSTATE STEM CELL ANTIGEN; PSCA Number Sign 602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES; SAMS NULL 602472 CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE Number Sign 602473 ENCEPHALOPATHY, ETHYLMALONIC; EE Asterisk 602474 PROTEIN KINASE, MEMBRANE-ASSOCIATED TYROSINE/THREONINE, 1; PKMYT1 CDC2-INHIBITORY KINASE, MEMBRANE-ASSOCIATED TYROSINE/THREONINE, 1; MYT1 Percent 602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL Caret 602476 MOVED TO 121210 Percent 602477 FEBRILE SEIZURES, FAMILIAL, 2; FEB2 CONVULSIONS, FAMILIAL FEBRILE, 2 Asterisk 602478 tRNA ASPARTIC ACID METHYLTRANSFERASE 1; TRDMT1 DNA METHYLTRANSFERASE 2; DNMT2 Asterisk 602479 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1 OCT6;; SCIP Asterisk 602480 POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 3; POU3F3 BRN1, MOUSE, HOMOLOG OF; BRN1 Number Sign 602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 MHP2 MIGRAINE, FAMILIAL BASILAR, INCLUDED Number Sign 602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS;; ANTERIOR CHAMBER CLEAVAGE SYNDROME;; RIEGER SYNDROME, TYPE 3 Number Sign 602483 AURICULOCONDYLAR SYNDROME 1; ARCND1 QUESTION MARK EARS SYNDROME NULL 602484 PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS Number Sign 602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 Asterisk 602486 PROCESSING OF PRECURSOR 1, S. CEREVISIAE, HOMOLOG OF; POP1 Asterisk 602487 HEAT-RESPONSIVE PROTEIN 12; HRSP12 PERCHLORIC ACID-SOLUBLE PROTEIN, 14.5-KD; PSP;; p14.5;; UK114 Asterisk 602488 CYTOHESIN 2; CYTH2 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 2; PSCD2;; ARF NUCLEOTIDE-BINDING SITE OPENER; ARNO;; PSCD2L, FORMERLY Asterisk 602489 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 1; KHDRBS1 GAP-ASSOCIATED TYROSINE PHOSPHOPROTEIN, 62-KD;; SRC-ASSOCIATED PROTEIN IN MITOSIS, 68-KD; SAM68 Asterisk 602490 NUCLEAR RECEPTOR-INTERACTING PROTEIN 1; NRIP1 RECEPTOR-INTERACTING PROTEIN 140; RIP140 Number Sign 602491 HYPERLIPIDEMIA, FAMILIAL COMBINED, 1; FCHL1 HYPERLIPIDEMIA, COMBINED, 1; HYPLIP1 Asterisk 602492 PENTRAXIN 3, LONG; PTX3 PENTRAXIN 3 Asterisk 602493 UV RADIATION RESISTANCE-ASSOCIATED GENE; UVRAG Asterisk 602494 CHEMOKINE, CC MOTIF, LIGAND 23; CCL23 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 23; SCYA23;; MYELOID PROGENITOR INHIBITORY FACTOR 1; MPIF1;; CK-BETA-8 Asterisk 602495 CHEMOKINE, CC MOTIF, LIGAND 24; CCL24 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 24; SCYA24;; MYELOID PROGENITOR INHIBITORY FACTOR 2; MPIF2;; EOTAXIN 2 Asterisk 602496 MERCAPTOPYRUVATE SULFURTRANSFERASE; MPST MST NULL 602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL BRACHYTELEPHALANGIC CHONDRODYSPLASIA PUNCTATA; BCDP Asterisk 602498 TRK-FUSED GENE; TFG TRKT3 ONCOGENE, INCLUDED;; TFG/NTRK1 FUSION GENE, INCLUDED;; TFG/NR4A3 FUSION GENE, INCLUDED Number Sign 602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM Asterisk 602500 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY B, 1; GOLGB1 GIANTIN;; MACROGOLGIN;; GCP372 Number Sign 602501 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP MACROCEPHALY-CAPILLARY MALFORMATION; MCM;; MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME;; MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; MCMTC;; MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA Asterisk 602502 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1 GOLGIN 97 Asterisk 602503 FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS; FRAT1 Asterisk 602504 SHORT STATURE HOMEOBOX 2; SHOX2 SHOX HOMOLOGOUS GENE ON CHROMOSOME THREE; SHOT Asterisk 602505 PAXILLIN; PXN Caret 602506 MOVED TO 143055 Asterisk 602507 ZINC FINGER PROTEIN 103, MOUSE, HOMOLOG OF; ZFP103 KF1 Asterisk 602508 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, BETA SUBUNIT; PAFAH1B2 Asterisk 602509 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4 TRANS-GOLGI p230;; GOLGIN 245 Asterisk 602510 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, H; PTPRH NULL 602511 PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE Asterisk 602512 REGULATOR OF G PROTEIN SIGNALING 12; RGS12 Asterisk 602513 REGULATOR OF G PROTEIN SIGNALING 14; RGS14 Asterisk 602514 REGULATOR OF G PROTEIN SIGNALING 16; RGS16 Asterisk 602515 PHOSPHOLIPASE D1, GLYCOSYLPHOSPHATIDYLINOSITOL-SPECIFIC; GPLD1 PHOSPHOLIPASE D, PHOSPHATIDYLINOSITOL-GLYCAN-SPECIFIC; PIGPLD;; GLYCOSYLPHOSPHATIDYLINOSITOL-SPECIFIC PHOSPHOLIPASE D; GPIPLD Asterisk 602516 REGULATOR OF G PROTEIN SIGNALING 4; RGS4 Asterisk 602517 REGULATOR OF G PROTEIN SIGNALING 7; RGS7 Asterisk 602518 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 4; LGALS4 GALECTIN 4; GAL4 Asterisk 602519 UBIQUITIN-SPECIFIC PROTEASE 7; USP7 UBIQUITIN-SPECIFIC PROTEASE, HERPESVIRUS-ASSOCIATED;; HERPESVIRUS-ASSOCIATED UBIQUITIN-SPECIFIC PROTEASE; HAUSP;; VMW110-ASSOCIATED PROTEIN, 135-KD Asterisk 602520 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 5; MAP2K5 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 5; PRKMK5;; MAPK/ERK KINASE 5; MEK5;; MAPKK5 Asterisk 602521 MITOGEN-ACTIVATED PROTEIN KINASE 7; MAPK7 PROTEIN KINASE, MITOGEN-ACTIVATED, 7; PRKM7;; EXTRACELLULAR SIGNAL-REGULATED KINASE 5; ERK5 Number Sign 602522 BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS; BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDED Asterisk 602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM Asterisk 602524 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 1; PDK1 Asterisk 602525 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 2; PDK2 Caret 602526 MOVED TO 300906 Asterisk 602527 PYRUVATE DEHYDROGENASE KINASE, ISOENZYME 4; PDK4 Asterisk 602528 TUBULIN, ALPHA-3C; TUBA3C TUBULIN, ALPHA-2; TUBA2 Asterisk 602529 TUBULIN, ALPHA-1A; TUBA1A TUBULIN, ALPHA, BRAIN-SPECIFIC;; B-ALPHA-1;; TUBA3 Asterisk 602530 TUBULIN, ALPHA-1B; TUBA1B TUBULIN, ALPHA, UBIQUITOUS;; K-ALPHA-1 Number Sign 602531 GRANGE SYNDROME; GRNG ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY;; GRANGE OCCLUSIVE ARTERIAL SYNDROME Asterisk 602532 SIX-TWELVE LEUKEMIA GENE STL Asterisk 602533 ONCOGENE DJ1; DJ1 PARK7 GENE; PARK7 Asterisk 602534 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 23-KD; SNAP23 SNAP23A SNAP23B, INCLUDED;; SNAP23C, INCLUDED;; SNAP23D, INCLUDED;; SNAP23E, INCLUDED Number Sign 602535 MARSHALL-SMITH SYNDROME; MRSHSS Asterisk 602536 RAB3 GTPase-ACTIVATING PROTEIN, CATALYTIC SUBUNIT; RAB3GAP1 RAB3GAP;; RAB3GAP, 130-KD SUBUNIT;; RAB3GAP, CATALYTIC SUBUNIT;; p130;; WARBM1 GENE;; KIAA0066 Asterisk 602537 CALPAIN 5; CAPN5 HTRA3 Asterisk 602538 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 2; CELF2 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 2; CUGBP2;; RNA-BINDING PROTEIN ETR3; ETR3;; BRUNO-LIKE 3; BRUNOL3 Asterisk 602539 MITOGEN-ACTIVATED KINASE KINASE KINASE 3; MAP3K3 MAP/ERK KINASE KINASE 3; MEKK3;; MAPKKK3 Number Sign 602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS HID SYNDROME Number Sign 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES Asterisk 602542 BASIC TRANSCRIPTION FACTOR 3; BTF3 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, BETA POLYPEPTIDE; NACB;; BETA-NAC BTF3A, INCLUDED;; BTF3B, INCLUDED Asterisk 602543 BASIC TRANSCRIPTION FACTOR 3-LIKE 1; BTF3L1 Asterisk 602544 PARKIN; PARK2 PRKN FRAGILE SITE FRA6E, INCLUDED Asterisk 602545 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, KAPPA; PTPRK Asterisk 602546 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 2; ST8SIA2 ALPHA-2,8-SIALYLTRANSFERASE II;; ST8SIA II;; SIALYLTRANSFERASE 8B; SIAT8B;; SIALYLTRANSFERASE X; STX Asterisk 602547 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 4; ST8SIA4 ALPHA-2,8-SIALYLTRANSFERASE IV;; ST8SIA IV;; POLYSIALYLTRANSFERASE; PST;; PST1 Asterisk 602548 OPIOID RECEPTOR-LIKE 1; OPRL1 ORL1;; LC132 RECEPTOR, RAT, HOMOLOG OF;; NOCICEPTIN RECEPTOR; NOCIR;; NOCICEPTIN/ORPHANIN FQ (N/OFQ) PEPTIDE RECEPTOR; NOP Asterisk 602549 PROTEIN KINASE N2; PKN2 PROTEIN KINASE C-LIKE 2; PRKCL2;; PROTEIN-KINASE C-RELATED KINASE 2; PRK2;; PAK2, RAT, HOMOLOG OF Asterisk 602550 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE PROTEIN; ARNTL BRAIN AND MUSCLE ARNT-LIKE PROTEIN 1; BMAL1;; TIC, MOUSE, HOMOLOG OF;; MEMBER OF PAS SUPERFAMILY 3; MOP3;; CYCLE, DROSOPHILA, HOMOLOG OF NULL 602551 JEJUNAL ATRESIA WITH RENAL ADYSPLASIA Asterisk 602552 NUCLEOPORIN, 88-KD; NUP88 NULL 602553 ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION NULL 602554 TORSION DYSTONIA WITH ONSET IN INFANCY NULL 602555 MICROCEPHALY, MACROTIA, AND MENTAL RETARDATION NULL 602556 FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY Number Sign 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE; SEMDSH SEMD, SHOHAT TYPE NULL 602558 CRANIOMICROMELIC SYNDROME Asterisk 602559 EXPORTIN 1; XPO1 REQUIRED FOR CHROMOSOME REGION MAINTENANCE; CRM1 Asterisk 602560 TRACHEAL ANTIMICROBIAL PEPTIDE TAP NULL 602561 BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS NULL 602562 MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA VERLOES-LESENFANTS SYNDROME;; MACROBLEPHARON, ECTROPION, HYPERTELORISM, AND MACROSTOMIA; MEHM Asterisk 602563 NK6, DROSOPHILA, HOMOLOG OF, 1; NKX6-1 NKX6.1;; NK HOMEOBOX, FAMILY 6, MEMBER A;; HOMEOBOX 6A, NK; NKX6A NULL 602564 EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION Asterisk 602565 CHEMOKINE, CC MOTIF, LIGAND 25; CCL25 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 25; SCYA25;; THYMUS-EXPRESSED CHEMOKINE; TECK Asterisk 602566 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 7; P2RX7 PURINOCEPTOR P2X7; P2X7 Asterisk 602567 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 1; LIMS1 PARTICULARLY INTERESTING NEW CYS-HIS PROTEIN; PINCH; PINCH1 Asterisk 602568 METHIONINE SYNTHASE REDUCTASE; MTRR MSR Asterisk 602569 SYNUCLEIN, BETA; SNCB Asterisk 602570 JAGGED 2; JAG2 SERRATE 2; SER2 Asterisk 602571 RNA-BINDING MOTIF PROTEIN 4; RBM4 LARK, DROSOPHILA, HOMOLOG OF Asterisk 602572 ANNEXIN A11; ANXA11 ANNEXIN XI; ANX11;; AUTOANTIGEN, 56-KD Asterisk 602573 ANNEXIN A13; ANXA13 ANNEXIN XIII; ANX13;; ANNEXIN, INTESTINE-SPECIFIC; ISA Asterisk 602574 TECTORIN, ALPHA; TECTA Asterisk 602575 LIM HOMEOBOX TRANSCRIPTION FACTOR 1, BETA; LMX1B LMX1.2 Asterisk 602576 LUNATIC FRINGE; LFNG FRINGE, DROSOPHILA, HOMOLOG OF, LUNATIC Asterisk 602577 MANIC FRINGE; MFNG FRINGE, DROSOPHILA, HOMOLOG OF, MANIC Asterisk 602578 RADICAL FRINGE; RFNG FRINGE, DROSOPHILA, HOMOLOG OF, RADICAL Number Sign 602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B CDG Ib; CDGIb;; CDG, GASTROINTESTINAL TYPE;; MANNOSEPHOSPHATE ISOMERASE DEFICIENCY;; MPI DEFICIENCY;; PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME;; SAGUENAY-LAC SAINT-JEAN SYNDROME;; SLSJ SYNDROME Asterisk 602580 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 2; GOLGA2 GOLGIN 95;; GM130 Asterisk 602581 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 3; GOLGA3 GOLGIN 160;; MEA2 Asterisk 602582 DELTEX, DROSOPHILA, HOMOLOG OF, 1; DTX1 Asterisk 602583 G PROTEIN-COUPLED RECEPTOR 37; GPR37 PARKIN-ASSOCIATED ENDOTHELIN RECEPTOR-LIKE RECEPTOR; PAELR Asterisk 602584 RETICULOCALBIN 2; RCN2 ENDOPLASMIC RETICULUM CALCIUM-BINDING PROTEIN, 55-KD; ERC55;; TCBP49 Caret 602585 MOVED TO 164280 Caret 602586 MOVED TO 602857 Asterisk 602587 ACYL-CoA THIOESTERASE 7; ACOT7 ACYL-CoA THIOESTERASE, LONG-CHAIN, CYTOSOLIC;; ACYL-CoA THIOESTERASE ; ACT;; CTE-II;; ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 2;; ACYL-CoA HYDROLASE, LONG-CHAIN, BRAIN; BACH;; ACYL-CoA HYDROLASE, LONG-CHAIN, LIVER; LACH;; ACYL-CoA THIOESTERASE 2, FORMERLY Number Sign 602588 BRANCHIOOTIC SYNDROME 1; BOS1 BO SYNDROME 1;; BRANCHIOOTIC DYSPLASIA ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT, INCLUDED Asterisk 602589 FUCOSYLTRANSFERASE 8; FUT8 ALPHA-1,6-FUCOSYLTRANSFERASE Asterisk 602590 p21 PROTEIN-ACTIVATED KINASE 1; PAK1 p21 CDC42/RAC1-ACTIVATED KINASE 1 Asterisk 602591 KINESIN HEAVY CHAIN MEMBER 2A; KIF2A KIF2 Asterisk 602592 LYMPHOCYTE ANTIGEN CD5-LIKE; CD5L SCAVENGER RECEPTOR CYSTEINE-RICH FAMILY, MEMBER SP-ALPHA;; SP-ALPHA;; APOPTOSIS INHIBITOR 6; API6;; APOPTOSIS INHIBITOR OF MACROPHAGES; AIM Asterisk 602593 CORNEODESMOSIN; CDSN S GENE Percent 602594 RETINITIS PIGMENTOSA 22; RP22 Asterisk 602595 GEM-ASSOCIATED PROTEIN 2; GEMIN2 SMN-INTERACTING PROTEIN 1; SIP1 NULL 602596 PANCREATIC LYMPHOMA, FAMILIAL Asterisk 602597 B-CELL CLL/LYMPHOMA 9; BCL9 LEGLESS, DROSOPHILA, HOMOLOG OF; LGS Asterisk 602598 PROSTAGLANDIN D2 SYNTHASE, HEMATOPOIETIC; HPGDS PGDS Caret 602599 MOVED TO 602631 Asterisk 602600 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 8; LRP8 APOLIPOPROTEIN E RECEPTOR 2; APOER2 Asterisk 602601 LOW DENSITY LIPOPROTEIN, OXIDIZED, RECEPTOR 1; OLR1 LECTIN-LIKE OXIDIZED-LDL RECEPTOR 1; LOX1;; OXIDIZED LOW DENSITY LIPOPROTEIN RECEPTOR 1 Asterisk 602602 SECRETED AND TRANSMEMBRANE 1; SECTM1 K12 Asterisk 602603 MAGO NASHI, DROSOPHILA, HOMOLOG OF; MAGOH Caret 602604 MOVED TO 602323 Caret 602605 MOVED TO 602221 Asterisk 602606 CART PREPROPEPTIDE; CARTPT COCAINE- AND AMPHETAMINE-REGULATED TRANSCRIPT; CART Asterisk 602607 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1; SLC22A1 ORGANIC CATION TRANSPORTER 1; OCT1 Asterisk 602608 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 2; SLC22A2 ORGANIC CATION TRANSPORTER 2; OCT2 Asterisk 602609 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 3; PIK3C3 VPS34, YEAST, HOMOLOG OF Asterisk 602610 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 4; PIK3R4 VPS15, YEAST, HOMOLOG OF;; p150 NULL 602611 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION NULL 602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE NULL 602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL Asterisk 602614 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7; MAP3K7 TRANSFORMING GROWTH FACTOR-BETA-ACTIVATED KINASE 1; TAK1;; TGF-BETA-ACTIVATED KINASE 1 TAK1a, INCLUDED;; TAK1b, INCLUDED;; TAK1c, INCLUDED;; TAK1d, INCLUDED Asterisk 602615 TAK1-BINDING PROTEIN 1; TAB1 TGF-BETA-ACTIVATED KINASE 1/MAP3K7-BINDING PROTEIN 1;; TAK1/MAP3K7-BINDING PROTEIN 1;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 1; MAP3K7IP1 Asterisk 602616 ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT2 GlcNAc-T II;; GnT II; GnT2;; UDP-N-ACETYLGLUCOSAMINE:ALPHA-6-D-MANNOSIDE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE II Asterisk 602617 FORKHEAD BOX E1; FOXE1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 15; FKHL15;; THYROID TRANSCRIPTION FACTOR 2; TTF2;; TITF2 Asterisk 602618 C-TERMINAL-BINDING PROTEIN 1; CTBP1 Asterisk 602619 C-TERMINAL-BINDING PROTEIN 2; CTBP2 Asterisk 602620 LEGUMAIN; LGMN PROTEASE, CYSTEINE, 1; PRSC1;; ASPARAGINYL ENDOPEPTIDASE; AEP Asterisk 602621 COXSACKIEVIRUS AND ADENOVIRUS RECEPTOR; CXADR CAR;; CVB3 BINDING PROTEIN;; COXSACKIEVIRUS B RECEPTOR Asterisk 602622 DEOXYRIBONUCLEASE I-LIKE 2; DNASE1L2 Asterisk 602623 FK506-BINDING PROTEIN 5; FKBP5 FK506-BINDING PROTEIN, 51-KD; FKBP51;; FKBP54 Caret 602624 MOVED TO 602570 Asterisk 602625 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 1; MAGI1 MEMBRANE-ASSOCIATED GUANYLATE KINASE WITH INVERTED STRUCTURE 1; MAGI1;; MAGUK WITH INVERTED STRUCTURE 1;; BAI1-ASSOCIATED PROTEIN 1; BAP1; BAIAP1;; WW DOMAIN-CONTAINING PROTEIN 3; WWP3;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 19; TNRC19 Asterisk 602626 INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; IL1RAP IL1RACP Asterisk 602627 CELL DIVISION CYCLE 6, S. CEREVISIAE, HOMOLOG OF; CDC6 CELL DIVISION CYCLE 18, S. POMBE, HOMOLOG-LIKE; CDC18L;; CELL CYCLE CONTROLLER CDC6 Asterisk 602628 FORKHEAD BOX N3; FOXN3 CHECKPOINT SUPPRESSOR 1; CHES1 Number Sign 602629 DYSTONIA 6, TORSION; DYT6 TORSION DYSTONIA, ADULT-ONSET, MIXED TYPE Asterisk 602630 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR; TGIF TGFB-INDUCED FACTOR;; TG-INTERACTING FACTOR Asterisk 602631 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18; SLC22A18 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE; SLC22A1L;; BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION 1, CANDIDATE A; BWSCR1A;; BECKWITH-WIEDEMANN REGION 1A; BWR1A;; IMPRINTED POLYSPECIFIC MEMBRANE TRANSPORTER 1; IMPT1;; ORGANIC-CATION TRANSPORTER-LIKE 2; ORCTL2;; TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 5; TSSC5 BECKWITH-WIEDEMANN SYNDROME CRITICAL REGION, INCLUDED Asterisk 602632 PODOCALYXIN-LIKE; PODXL PODOCALYXIN-LIKE PROTEIN; PCLP;; PODOCALYXIN; PC;; GP200 Asterisk 602633 FOUR-AND-A-HALF LIM DOMAINS 2; FHL2 DOWNREGULATED IN RHABDOMYOSARCOMA LIM PROTEIN; DRAL;; SLIM3 Asterisk 602634 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 9; DNAJB9 MICROVASCULAR ENDOTHELIAL DIFFERENTIATION GENE 1; MDG1;; ERDJ4 Asterisk 602635 DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG; DEAF1 DEAF1, DROSOPHILA, HOMOLOG OF;; SUPPRESSIN; SPN;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 5; ZMYND5 Asterisk 602636 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 8; PPP1R8 NUCLEAR INHIBITOR OF PROTEIN PHOSPHATASE 1; NIPP1;; ACTIVATOR OF RNA DECAY; ARD1;; RNase E, E. COLI, HOMOLOG OF Asterisk 602637 SECRETED PHOSPHOPROTEIN 2; SPP2 SECRETED PHOSPHOPROTEIN, 24-KD; SPP24 Asterisk 602638 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 4; MCM4 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 4;; CELL DIVISION CYCLE 21, S. POMBE, HOMOLOG OF;; CDC21, S. POMBE, HOMOLOG OF Percent 602639 TOOTH AGENESIS, SELECTIVE, 2; STHAG2 HYPODONTIA/OLIGODONTIA 2; HYD2 Asterisk 602640 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 1; NAALADL1 ILEAL DIPEPTIDYLPEPTIDASE;; I100, RAT, HOMOLOG OF;; NAALADase L Asterisk 602641 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 1; EIF4A1 DDX2A Asterisk 602642 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 11; TNFSF11 OSTEOPROTEGERIN LIGAND; OPGL;; RECEPTOR ACTIVATOR OF NF-KAPPA-B LIGAND; RANKL;; TNF-RELATED ACTIVATION-INDUCED CYTOKINE; TRANCE;; OSTEOCLAST DIFFERENTIATION FACTOR; ODF Asterisk 602643 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B OSTEOPROTEGERIN; OPG;; OSTEOCLASTOGENESIS INHIBITORY FACTOR; OCIF Asterisk 602644 TETRASPANIN 4; TSPAN4 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 7; TM4SF7;; TETRASPAN;; NOVEL ANTIGEN 2; NAG2 Asterisk 602645 SEMAPHORIN 3C; SEMA3C SEMAPHORIN E; SEMAE Asterisk 602646 G PROTEIN-COUPLED RECEPTOR 35; GPR35 CHEMOKINE, CXC MOTIF, RECEPTOR 8; CXCR8 Asterisk 602647 NUCLEAR RNA EXPORT FACTOR 1; NXF1 TIP-ASSOCIATED PROTEIN; TAP;; MEX67, YEAST, HOMOLOG OF; MEX67 Asterisk 602648 ATYPICAL CHEMOKINE RECEPTOR 2; ACKR2 CHEMOKINE-BINDING PROTEIN 2; CCBP2;; CMKBR9;; D6 Asterisk 602649 COLD-INDUCIBLE RNA-BINDING PROTEIN; CIRBP CIRP Asterisk 602650 SPECKLE-TYPE POZ PROTEIN; SPOP Asterisk 602651 NARDILYSIN; NRD1 N-ARGININE DIBASIC CONVERTASE;; NRD CONVERTASE Asterisk 602652 KALLIKREIN-RELATED PEPTIDASE 6; KLK6 KALLIKREIN 6;; PROTEASE, SERINE, 9; PRSS9;; PROTEASE M;; ZYME;; NEUROSIN Asterisk 602653 TECTORIN, BETA; TECTB Asterisk 602654 FERM, ARHGEF, AND PLECKSTRIN DOMAINS-CONTAINING PROTEIN 1; FARP1 CHONDROCYTE-DERIVED EZRIN-LIKE PROTEIN; CDEP Asterisk 602655 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN; SLC4A1AP KIDNEY ANION EXCHANGER ADAPTOR PROTEIN;; KANADAPTIN Asterisk 602656 ENDONUCLEASE III-LIKE 1; NTHL1 ENDONUCLEASE III, E. COLI, HOMOLOG OF; NTH1;; OCTS3 Caret 602657 MOVED TO 300572 Asterisk 602658 PHOSPHODIESTERASE 2A, cGMP-STIMULATED; PDE2A Asterisk 602659 MENAGE A TROIS 1; MNAT1 MAT1;; TFB3 Asterisk 602660 TUBULIN, BETA-4B; TUBB4B TUBULIN, BETA-2C; TUBB2C;; TUBULIN, BETA-2;; TUBULIN, BETA, CLASS IVB Asterisk 602661 TUBULIN, BETA-3; TUBB3 TUBB4;; TUBULIN, BETA, CLASS III Asterisk 602662 TUBULIN, BETA-4A; TUBB4A TUBB4;; TUBULIN, BETA, CLASS IVA Asterisk 602663 PROLACTIN-RELEASING HORMONE; PRLH PRH;; PROLACTIN-RELEASING PEPTIDE; PRRP Asterisk 602664 CASPASE 4, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP4 ICE AND CED3 HOMOLOG 2; ICH2;; CASPASE 11, MOUSE, HOMOLOG OF; CASP11 Asterisk 602665 CASPASE 5, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP5 Asterisk 602666 MYOSIN XVA; MYO15A MYOSIN XV; MYO15 Asterisk 602667 NIBRIN; NBN p95 PROTEIN OF THE MRE11/RAD50 COMPLEX;; NBS1 Number Sign 602668 MYOTONIC DYSTROPHY 2; DM2 DYSTROPHIA MYOTONICA 2;; PROXIMAL MYOTONIC MYOPATHY; PROMM;; MYOTONIC MYOPATHY, PROXIMAL;; RICKER SYNDROME Asterisk 602669 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3 PITUITARY HOMEOBOX 3; PTX3 Asterisk 602670 POLYMERASE, DNA, EPSILON-2; POLE2 DPE2 Asterisk 602671 SOLUTE CARRIER FAMILY 37 (GLUCOSE-6-PHOSPHATE TRANSPORTER), MEMBER 4; SLC37A4 GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1;; GLUCOSE-6-PHOSPHATE TRANSLOCASE;; G6P TRANSLOCASE Asterisk 602672 RAS-ASSOCIATED PROTEIN RAB13; RAB13 Asterisk 602673 KALLIKREIN-RELATED PEPTIDASE 10; KLK10 KALLIKREIN 10;; PROTEASE, SERINE-LIKE, 1; PRSSL1 Caret 602674 MOVED TO 601802 Asterisk 602675 ARGINYL AMINOPEPTIDASE; RNPEP AMINOPEPTIDASE B Asterisk 602676 PHOSPHODIESTERASE 6D, cGMP-SPECIFIC, ROD, DELTA; PDE6D RETINAL ROD PHOTORECEPTOR cGMP PHOSPHODIESTERASE, DELTA SUBUNIT; PDED;; PDE-DELTA Asterisk 602677 RING FINGER PROTEIN 5; RNF5 RING5;; RMA1 Asterisk 602678 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3 MICROTUBULE-ASSOCIATED PROTEIN/MICROTUBULE AFFINITY-REGULATING KINASE 3;; CDC25C-ASSOCIATED PROTEIN KINASE 1; CTAK1;; PAR1, C. ELEGANS, HOMOLOG OF, A; PAR1A Asterisk 602679 PHOSPHATE CYTIDYLYLTRANSFERASE 2, ETHANOLAMINE; PCYT2 CYTIDYLYLTRANSFERASE, CTP-PHOSPHOETHANOLAMINE; ET;; ETHANOLAMINE-PHOSPHATE CYTIDYLYLTRANSFERASE Asterisk 602680 RHO GTPase-ACTIVATING PROTEIN 5; ARHGAP5 GTPase-ACTIVATING PROTEIN, RHO, 5; RHOGAP5 Asterisk 602681 FORKHEAD BOX O3A; FOXO3A FOXO3;; FORKHEAD IN RHABDOMYOSARCOMA-LIKE 1; FKHRL1;; FKHR-LIKE 1 Asterisk 602682 ADHESION G PROTEIN-COUPLED RECEPTOR B1; ADGRB1 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1; BAI1;; ANGIOGENESIS INHIBITORY FACTOR, GLIOMA-DERIVED; GDAIF Asterisk 602683 ADHESION G PROTEIN-COUPLED RECEPTOR B2; ADGRB2 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 2; BAI2 Asterisk 602684 ADHESION G PROTEIN-COUPLED RECEPTOR B3; ADGRB3 BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 3; BAI3 Percent 602685 MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL DEGENERATION MRST Asterisk 602686 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1; MAD1L1 MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG OF;; MAD1, YEAST, HOMOLOG OF;; TAX-BINDING PROTEIN 181; TXBP181 Caret 602687 MOVED TO 603072 Asterisk 602688 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A/B; HNRNPAB APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE 1-BINDING PROTEIN 1;; APOBEC1-BINDING PROTEIN 1; ABBP1;; HNRPAB Asterisk 602689 FASCIN ACTIN-BUNDLING PROTEIN 1; FSCN1 FASCIN, SEA URCHIN, HOMOLOG OF, 1;; SINGED, DROSOPHILA, HOMOLOG OF; SNL;; ACTIN-BUNDLING PROTEIN, 55-KD;; p55 Asterisk 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN; SDHD SUCCINATE DEHYDROGENASE 4, INTEGRAL MEMBRANE PROTEIN; SDH4 Asterisk 602691 NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1 STEROID RECEPTOR COACTIVATOR 1; SRC1 Asterisk 602692 GLIOMA PATHOGENESIS-RELATED PROTEIN 1; GLIPR1 GLIPR;; RELATED TO TESTIS-SPECIFIC, VESPID, AND PATHOGENESIS PROTEINS 1; RTVP1 Asterisk 602693 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 3; MCM3 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 3;; REPLICATION LICENSING FACTOR, BETA SUBUNIT; RLFB;; P1 PROTEIN Asterisk 602694 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4 NADH-COENZYME Q REDUCTASE, 18-KD;; COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT;; AQDQ Asterisk 602695 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12 TNF-RELATED WEAK INDUCER OF APOPTOSIS; TWEAK TWEAK/APRIL SPLICED READ-THROUGH TRANSCRIPT, INCLUDED; TWEPRIL, INCLUDED Asterisk 602696 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 5; MCM5 MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 5;; CELL DIVISION CYCLE 46; CDC46 Asterisk 602697 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11 P2RY11/PPAN SPLICED READ-THROUGH TRANSCRIPT, INCLUDED Asterisk 602698 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 3; NFATC3 NFATX;; NFAT4 Asterisk 602699 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 4; NFATC4 NFAT3 Asterisk 602700 E1A-BINDING PROTEIN, 300-KD; EP300 p300 Asterisk 602701 SARCOLEMMAL-ASSOCIATED PROTEIN; SLMAP SLAP Asterisk 602702 PERILIPIN 3; PLIN3 MANNOSE 6-PHOSPHATE RECEPTOR-BINDING PROTEIN 1; M6PRBP1;; MPR-BINDING PROTEIN, 47-KD;; MPR TAIL-INTERACTING PROTEIN, 47-KD; TIP47 Asterisk 602703 KATANIN, p80 SUBUNIT, B1; KATNB1 Asterisk 602704 MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4 p53-BINDING PROTEIN MDM4;; MDMX;; HDMX Asterisk 602705 SYNAPSIN III; SYN3 Asterisk 602706 PROTEASOME 26S SUBUNIT, ATPase, 1; PSMC1 PROTEASE 26S, SUBUNIT 4; S4 Asterisk 602707 PROTEASOME 26S SUBUNIT, ATPase, 4; PSMC4 TAT-BINDING PROTEIN 7; TBP7;; PROTEASE 26S, SUBUNIT 6; S6 Asterisk 602708 PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6 Asterisk 602709 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 1; APBB1 FE65 Asterisk 602710 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 2; APBB2 FE65-LIKE 1; FE65L1 Asterisk 602711 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 3; APBB3 FE65-LIKE 2; FE65L2 Asterisk 602712 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2 X11-LIKE; X11L;; MUNC18-1-INTERACTING PROTEIN 2; MINT2;; X11-BETA Asterisk 602713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9 MYELOMA CELL METALLOPROTEINASE; MCMP;; METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 9; MDC9 Asterisk 602714 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12 MELTRIN-ALPHA, MOUSE, HOMOLOG OF; MLTN Asterisk 602715 LEIOMODIN 1; LMOD1 LEIOMODIN, SMOOTH MUSCLE; SMLMOD;; THYROID AND EYE MUSCLE AUTOANTIGEN, 64-KD;; THYROID-ASSOCIATED OPHTHALMOPATHY AUTOANTIGEN, 64-KD;; HASHIMOTO THYROIDITIS AUTOANTIGEN, 64-KD;; D1; 1D Asterisk 602716 NEPHRIN; NPHS1 NPHN;; RENAL GLOMERULUS-SPECIFIC CELL ADHESION RECEPTOR Asterisk 602717 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2D; GRIN2D N-METHYL-D-ASPARTATE RECEPTOR CHANNEL, SUBUNIT EPSILON-4; NMDAR2D Asterisk 602718 TRANSFORMER 2, DROSOPHILA, HOMOLOG OF, ALPHA; TRA2A Asterisk 602719 TRANSFORMER 2, DROSOPHILA, HOMOLOG OF, BETA; TRA2B TRA2-BETA;; HTRA2-BETA-1;; SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10 Asterisk 602720 PARAOXONASE 3; PON3 Asterisk 602721 DISRUPTED MEIOTIC cDNA 1, YEAST, HOMOLOG OF; DMC1 LIM15 Number Sign 602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR RTA, DISTAL, AUTOSOMAL RECESSIVE;; RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED Number Sign 602723 PSORIASIS 2; PSORS2 Asterisk 602724 SEPTIN 5; SEPT5 PEANUT-LIKE 1; PNUTL1;; CELL DIVISION CYCLE-RELATED; CDCREL;; CDCREL1 PNUTL1/MLL FUSION GENE, INCLUDED Asterisk 602725 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2 INTERFERON-RELATED PROTEIN Asterisk 602726 CHLORIDE CHANNEL 6; CLCN6 CLC6 Asterisk 602727 CHLORIDE CHANNEL 7; CLCN7 CLC7 Asterisk 602728 SCAVENGER RECEPTOR CLASS A, MEMBER 3; SCARA3 MACROPHAGE SCAVENGER RECEPTOR-LIKE 1; MSRL1;; CELLULAR STRESS RESPONSE; CSR Asterisk 602729 GAMMA-AMINOBUTYRIC ACID RECEPTOR, PI; GABRP GABA-A RECEPTOR, PI POLYPEPTIDE Asterisk 602730 ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B ACTRIIB Asterisk 602731 FYN-BINDING PROTEIN; FYB ADHESION AND DEGRANULATION ADAPTOR PROTEIN; ADAP;; SLAP130;; p120/130 Asterisk 602732 RHO GTPase-ACTIVATING PROTEIN 1; ARHGAP1 GTPase-ACTIVATING PROTEIN, RHO, 1;; RHOGAP1;; RHOGAP;; CDC42GAP Asterisk 602733 ALDEHYDE DEHYDROGENASE, FAMILY 9, SUBFAMILY A, MEMBER 1; ALDH9A1 ALDEHYDE DEHYDROGENASE 9; ALDH9;; E3 Asterisk 602734 PLASTIN 1; PLS1 INTESTINE-SPECIFIC PLASTIN;; I-PLASTIN;; FIMBRIN Asterisk 602735 RETICULOCALBIN 1; RCN1 Asterisk 602736 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 3; ATP5G3 MITOCHONDRIAL ATP SYNTHASE, SUBUNIT C, ISOFORM 3;; MITOCHONDRIAL ATP SYNTHASE, SUBUNIT 9, ISOFORM 3 Asterisk 602737 CHEMOKINE, CC MOTIF, LIGAND 21; CCL21 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 21; SCYA21;; SECONDARY LYMPHOID TISSUE CHEMOKINE; SLC;; EXODUS 2 Asterisk 602738 KARYOPHERIN BETA-1; KPNB1 IMPORTIN BETA-1 Asterisk 602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1 AMP-ACTIVATED PROTEIN KINASE, CATALYTIC, ALPHA-1;; AMPK-ALPHA-1 Asterisk 602740 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, BETA-1;; AMPK-BETA-1 Asterisk 602741 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-2; PRKAB2 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, BETA-2;; AMPK-BETA-2 Asterisk 602742 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-1;; AMPK-GAMMA-1 Asterisk 602743 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2 AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2;; AMPK-GAMMA-2 Asterisk 602744 GLYCERONEPHOSPHATE O-ACYLTRANSFERASE; GNPAT DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE; DHAPAT; DAPAT;; ACYL-CoA:DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE Asterisk 602745 PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, BETA; PIP5K1B MSS4, YEAST, HOMOLOG OF;; STM7 Asterisk 602746 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14 HERPESVIRUS ENTRY MEDIATOR; HVEM;; HERPESVIRUS ENTRY MEDIATOR A; HVEA;; TR2 Asterisk 602747 DUAL-SPECIFICITY PHOSPHATASE 4; DUSP4 MAP KINASE PHOSPHATASE 2; MKP2;; VH1 HOMOLOGOUS PHOSPHATASE 2; HVH2 Asterisk 602748 DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6 MAP KINASE PHOSPHATASE 3; MKP3;; PYST1 Asterisk 602749 DUAL-SPECIFICITY PHOSPHATASE 7; DUSP7 MAP KINASE PHOSPHATASE X; MKPX;; PYST2 Asterisk 602750 D-DOPACHROME TAUTOMERASE; DDT Asterisk 602751 BTB AND CNC HOMOLOGY 1; BACH1 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR 1 Asterisk 602752 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 8; RGPD8 RGP8;; RANBP2-ALPHA;; RANBP2-LIKE 1; RANBP2L1 Asterisk 602753 ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG OF; ARIX PHOX2A Asterisk 602754 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 4; KCNN4 IK1;; SK4;; KCA4;; KCA3.1 Asterisk 602755 CYCLIN B2; CCNB2 Asterisk 602756 EPHRIN A2; EFNA2 EPH-RELATED RECEPTOR TYROSINE KINASE LIGAND 6; EPLG6;; LIGAND OF EPH-RELATED KINASE 6; LERK6 Asterisk 602757 EPHRIN RECEPTOR EphB6; EPHB6 HUMAN KINASE-DEFECTIVE Eph-FAMILY RECEPTOR PROTEIN; HEP Asterisk 602758 PHOSPHATIDYLINOSITOL 4-KINASE, CATALYTIC, BETA; PIK4CB PI4K-BETA; PI4KB;; PHOSPHATIDYLINOSITOL 4-KINASE, TYPE III, BETA;; PI4KIII-BETA;; PHOSPHATIDYLINOSITOL 4-KINASE, WORTMANNIN-SENSITIVE Percent 602759 PROSTATE CANCER, HEREDITARY, 8; HPC8 PREDISPOSING FOR PROSTATE CANCER; PCAP Asterisk 602760 KERATIN 32, TYPE I; KRT32 K32;; KA26;; KERATIN, HAIR, ACIDIC, 2; KRTHA2;; KERATIN, HARD, TYPE I, 2; HA2 Asterisk 602761 KERATIN 33A, TYPE I; KRT33A K33A;; KA27;; KERATIN, HAIR, ACIDIC, 3A; KRTHA3A;; KERATIN, HARD, TYPE I, 3I; HA3I Asterisk 602762 KERATIN 33B, TYPE I; KRT33B K33B;; KA28;; KERATIN, HAIR, ACIDIC, 3B; KRTHA3B;; KERATIN, HARD, TYPE I, 3II; HA3II Asterisk 602763 KERATIN 34, TYPE I; KRT34 K34;; KA29;; KERATIN, HAIR, ACIDIC, 4; KRTHA4;; KERATIN, HARD, TYPE I, 4; HA4 Asterisk 602764 KERATIN 35, TYPE I; KRT35 K35;; KA30;; KERATIN, HAIR, ACIDIC, 5; KRTHA5;; KERATIN, HARD, TYPE I, 5; HA5 Asterisk 602765 KERATIN 83, TYPE II; KRT83 K83;; KB23;; K2.10;; KERATIN, HAIR, BASIC, 3; KRTHB3;; KERATIN, HARD, TYPE II, 3; HB3 Asterisk 602766 KERATIN 84, TYPE II; KRT84 K84;; KB24;; KERATIN, HAIR, BASIC, 4; KRTHB4;; KERATIN, HARD, TYPE II, 4; HB4 Asterisk 602767 KERATIN 85, TYPE II; KRT85 K85;; KB25;; K2.12;; KERATIN, HAIR, BASIC, 5; KRTHB5;; KERATIN, HARD, TYPE II, 5; HB5 Asterisk 602768 DELTA-LIKE CANONICAL NOTCH LIGAND 3; DLL3 DELTA-LIKE 3;; DELTA, DROSOPHILA, HOMOLOG OF Asterisk 602769 DNA METHYLTRANSFERASE 3A; DNMT3A Asterisk 602770 CHROMOBOX HOMOLOG 2, DROSOPHILA POLYCOMB CLASS; CBX2 M33, MOUSE, HOMOLOG OF Number Sign 602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 RIGID SPINE SYNDROME; RSS;; MYOPATHY, SEPN1-RELATED;; MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE, WITH EARLY SPINE RIGIDITY; MDRS1;; MULTICORE MYOPATHY, SEVERE CLASSIC FORM;; MINICORE MYOPATHY, SEVERE CLASSIC FORM;; MULTIMINICORE DISEASE, SEVERE CLASSIC FORM;; DESMIN-RELATED MYOPATHY WITH MALLORY BODIES;; MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE Number Sign 602772 RETINITIS PIGMENTOSA 25; RP25 Asterisk 602773 DISRUPTED IN RENAL CARCINOMA 2; DIRC2 Asterisk 602774 RAD51, S. CEREVISIAE, HOMOLOG OF, C; RAD51C Asterisk 602775 SUPPRESSOR OF CLEAR, C. ELEGANS, HOMOLOG OF; SHOC2 RAS-BINDING PROTEIN SUR8, C. ELEGANS, HOMOLOG OF; SUR8 Asterisk 602776 REV3, S. CEREVISIAE, HOMOLOG OF; REV3L REV3;; POLYMERASE, DNA, ZETA; POLZ Asterisk 602777 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 4; SNAPC4 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 190-KD SUBUNIT; SNAP190;; PSE-BINDING TRANSCRIPTION FACTOR, ALPHA;; PTF-ALPHA Asterisk 602778 NUCLEAR RECEPTOR SUBFAMILY 6, GROUP A, MEMBER 1; NR6A1 GERM CELL NUCLEAR FACTOR; GCNF;; RETINOID RECEPTOR-RELATED TESTIS-ASSOCIATED RECEPTOR; RTR Asterisk 602779 COAGULATION FACTOR II RECEPTOR-LIKE 3; F2RL3 THROMBIN RECEPTOR-LIKE 3;; PROTEASE-ACTIVATED RECEPTOR 4; PAR4 Asterisk 602780 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 1; HCN1 BRAIN CYCLIC-NUCLEOTIDE GATED 1; BCNG1;; POTASSIUM CHANNEL, VOLTAGE-GATED, BRAIN, 1 Asterisk 602781 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 2; HCN2 BRAIN CYCLIC-NUCLEOTIDE GATED 2; BCNG2;; POTASSIUM CHANNEL, VOLTAGE-GATED, BRAIN, 2 Number Sign 602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS;; HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS;; H SYNDROME;; PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS; PHID;; HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS; HJCD;; FAISALABAD HISTIOCYTOSIS;; ROSAI-DORFMAN DISEASE, FAMILIAL;; SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY; SHML Asterisk 602783 SPG7 GENE; SPG7 PARAPLEGIN; PGN;; CELL MATRIX ADHESION REGULATOR; CMAR;; CELL ADHESION REGULATOR; CAR Asterisk 602784 CORTISTATIN; CORT Asterisk 602785 H1 HISTONE FAMILY, MEMBER X; H1FX H1X Asterisk 602786 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER E; HIST1H2AE HISTONE GENE CLUSTER 1, H2AE;; HIST1 CLUSTER, H2AE;; H2A HISTONE FAMILY, MEMBER A; H2AFA;; H2A/A;; H2A.1 Asterisk 602787 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER I; HIST1H2AI HISTONE GENE CLUSTER 1, H2AI;; HIST1 CLUSTER, H2AI;; H2A HISTONE FAMILY, MEMBER C; H2AFC;; H2A/C Asterisk 602788 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER K; HIST1H2AK HISTONE GENE CLUSTER 1, H2AK;; HIST1 CLUSTER, H2AK;; H2A HISTONE FAMILY, MEMBER D; H2AFD;; H2A/D;; HIST1H2AI, FORMERLY Caret 602789 MOVED TO 300163 Asterisk 602790 FOUR-AND-A-HALF LIM DOMAINS 3; FHL3 SLIM2 Asterisk 602791 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER J; HIST1H2AJ HISTONE GENE CLUSTER 1, H2AJ;; HIST1 CLUSTER, H2AJ;; H2A HISTONE FAMILY, MEMBER E; H2AFE;; H2A/E;; HIST1H2AK, FORMERLY Asterisk 602792 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER D; HIST1H2AD HISTONE GENE CLUSTER 1, H2AD;; HIST1 CLUSTER, H2AD;; H2A HISTONE FAMILY, MEMBER G; H2AFG;; H2A/G Asterisk 602793 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER L; HIST1H2AL HISTONE GENE CLUSTER 1, H2AL;; HIST1 CLUSTER, H2AL;; H2A HISTONE FAMILY, MEMBER I; H2AFI;; H2A/I Asterisk 602794 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER C; HIST1H2AC HISTONE GENE CLUSTER 1, H2AC;; HIST1 CLUSTER, H2AC;; H2A HISTONE FAMILY, MEMBER L; H2AFL;; H2A/L Asterisk 602795 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER B; HIST1H2AB HISTONE GENE CLUSTER 1, H2AB;; HIST1 CLUSTER, H2AB;; H2A HISTONE FAMILY, MEMBER M; H2AFM;; H2A/M Asterisk 602796 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER M; HIST1H2AM HISTONE GENE CLUSTER 1, H2AM;; HIST1 CLUSTER, H2AM;; H2A HISTONE FAMILY, MEMBER N; H2AFN;; H2A/N;; H2A.1 Asterisk 602797 HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER C; HIST2H2AC HISTONE GENE CLUSTER 2, H2AC;; HIST2 CLUSTER, H2AC;; H2A HISTONE FAMILY, MEMBER Q; H2AFQ;; H2A/Q Asterisk 602798 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER G; HIST1H2BG HISTONE GENE CLUSTER 1, H2BG;; HIST1 CLUSTER, H2BG;; H2B HISTONE FAMILY, MEMBER A; H2BFA;; H2B/A;; H2B.1A Asterisk 602799 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER D; HIST1H2BD HISTONE GENE CLUSTER 1, H2BD;; HIST1 CLUSTER, H2BD;; H2B HISTONE FAMILY, MEMBER B; H2BFB;; H2B/B;; H2B.1B Asterisk 602800 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER L; HIST1H2BL HISTONE GENE CLUSTER 1, H2BL;; HIST1 CLUSTER, H2BL;; H2B HISTONE FAMILY, MEMBER C; H2BFC;; H2B/C Asterisk 602801 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER N; HIST1H2BN HISTONE GENE CLUSTER 1, H2BN;; HIST1 CLUSTER, H2BN;; H2B HISTONE FAMILY, MEMBER D; H2BFD;; H2B/D Asterisk 602802 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER M; HIST1H2BM HISTONE GENE CLUSTER 1, H2BM;; HIST1 CLUSTER, H2BM;; H2B HISTONE FAMILY, MEMBER E; H2BFE;; H2B/E Asterisk 602803 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER B; HIST1H2BB HISTONE GENE CLUSTER 1, H2BB;; HIST1 CLUSTER, H2BB;; H2B HISTONE FAMILY, MEMBER F; H2BFF;; H2B/F;; H2B.1 Asterisk 602804 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER F; HIST1H2BF HISTONE GENE CLUSTER 1, H2BF;; HIST1 CLUSTER, H2BF;; H2B HISTONE FAMILY, MEMBER G; H2BFG;; H2B/G Asterisk 602805 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER E; HIST1H2BE HISTONE GENE CLUSTER 1, H2BE;; HIST1 CLUSTER, H2BE;; H2B HISTONE FAMILY, MEMBER H; H2BFH;; H2B/H Asterisk 602806 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER H; HIST1H2BH HISTONE GENE CLUSTER 1, H2BH;; HIST1 CLUSTER, H2BH;; H2B HISTONE FAMILY, MEMBER J; H2BFJ;; H2B/J Asterisk 602807 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER I; HIST1H2BI HISTONE GENE CLUSTER 1, H2BI;; HIST1 CLUSTER, H2BI;; H2B HISTONE FAMILY, MEMBER K; H2BFK;; H2B/K Asterisk 602808 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER O; HIST1H2BO HISTONE GENE CLUSTER 1, H2BO;; HIST1 CLUSTER, H2BO;; H2B HISTONE FAMILY, MEMBER N; H2BFN;; H2B/N;; H2B.2 Asterisk 602809 KINESIN FAMILY MEMBER 5B; KIF5B KINESIN 1 HEAVY CHAIN; KNS1;; KINESIN, HEAVY CHAIN, UBIQUITOUS; UKHC;; KINH Asterisk 602810 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER A; HIST1H3A HISTONE GENE CLUSTER 1, H3A;; HIST1 CLUSTER, H3A;; H3 HISTONE FAMILY, MEMBER A; H3FA;; H3/A Asterisk 602811 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER D; HIST1H3D HISTONE GENE CLUSTER 1, H3D;; HIST1 CLUSTER, H3D;; H3 HISTONE FAMILY, MEMBER B; H3FB;; H3/B Asterisk 602812 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER C; HIST1H3C HISTONE GENE CLUSTER 1, H3C;; HIST1 CLUSTER, H3C;; H3 HISTONE FAMILY, MEMBER C; H3FC;; H3/C Asterisk 602813 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER E; HIST1H3E HISTONE GENE CLUSTER 1, H3E;; HIST1 CLUSTER, H3E;; H3 HISTONE FAMILY, MEMBER D; H3FD;; H3/D Asterisk 602814 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER I; HIST1H3I HISTONE GENE CLUSTER 1, H3I;; HIST1 CLUSTER, H3I;; H3 HISTONE FAMILY, MEMBER F; H3FF;; H3/F Asterisk 602815 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER G; HIST1H3G HISTONE GENE CLUSTER 1, H3G;; HIST1 CLUSTER, H3G;; H3 HISTONE FAMILY, MEMBER H; H3FH;; H3/H Asterisk 602816 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER F; HIST1H3F HISTONE GENE CLUSTER 1, H3F;; HIST1 CLUSTER, H3F;; H3 HISTONE FAMILY, MEMBER I; H3FI;; H3/I Asterisk 602817 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER J; HIST1H3J HISTONE GENE CLUSTER 1, H3J;; HIST1 CLUSTER, H3J;; H3 HISTONE FAMILY, MEMBER J; H3FJ;; H3/J Asterisk 602818 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER H; HIST1H3H HISTONE GENE CLUSTER 1, H3H;; HIST1 CLUSTER, H3H;; H3 HISTONE FAMILY, MEMBER K; H3FK;; H3/K Asterisk 602819 HISTONE GENE CLUSTER 1, H3 HISTONE FAMILY, MEMBER B; HIST1H3B HISTONE GENE CLUSTER 1, H3B;; HIST1 CLUSTER, H3B;; H3 HISTONE FAMILY, MEMBER L; H3FL;; H3/L Asterisk 602820 HISTONE GENE CLUSTER 3, H3 HISTONE; HIST3H3 HISTONE GENE CLUSTER 3, H3;; HIST3 CLUSTER, H3;; H3 HISTONE FAMILY, MEMBER T; H3FT; H3T;; H3.4 Asterisk 602821 KINESIN FAMILY MEMBER 5A; KIF5A KINESIN, HEAVY CHAIN, NEURON-SPECIFIC; NKHC Asterisk 602822 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER A; HIST1H4A HISTONE GENE CLUSTER 1, H4A;; HIST1 CLUSTER, H4A;; H4 HISTONE FAMILY, MEMBER A; H4FA;; H4/A Asterisk 602823 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER D; HIST1H4D HISTONE GENE CLUSTER 1, H4D;; HIST1 CLUSTER, H4D;; H4 HISTONE FAMILY, MEMBER B; H4FB;; H4/B Asterisk 602824 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER F; HIST1H4F HISTONE GENE CLUSTER 1, H4F;; HIST1 CLUSTER, H4F;; H4 HISTONE FAMILY, MEMBER C; H4FC;; H4/C Asterisk 602825 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER K; HIST1H4K HISTONE GENE CLUSTER 1, H4K;; HIST1 CLUSTER, H4K;; H4 HISTONE FAMILY, MEMBER D; H4FD;; H4/D Asterisk 602826 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER J; HIST1H4J HISTONE GENE CLUSTER 1, H4J;; HIST1 CLUSTER, H4J;; H4 HISTONE FAMILY, MEMBER E; H4FE;; H4/E Asterisk 602827 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER C; HIST1H4C HISTONE GENE CLUSTER 1, H4C;; HIST1 CLUSTER, H4C;; H4 HISTONE FAMILY, MEMBER G; H4FG;; H4/G Asterisk 602828 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER H; HIST1H4H HISTONE GENE CLUSTER 1, H4H;; HIST1 CLUSTER, H4H;; H4 HISTONE FAMILY, MEMBER H; H4FH;; H4/H Asterisk 602829 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER B; HIST1H4B HISTONE GENE CLUSTER 1, H4B;; HIST1 CLUSTER, H4B;; H4 HISTONE FAMILY, MEMBER I; H4FI;; H4/I Asterisk 602830 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER E; HIST1H4E HISTONE GENE CLUSTER 1, H4E;; HIST1 CLUSTER, H4E;; H4 HISTONE FAMILY, MEMBER J; H4FJ; H4/J Asterisk 602831 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER L; HIST1H4L HISTONE GENE CLUSTER 1, H4L;; HIST1 CLUSTER, H4L;; H4 HISTONE FAMILY, MEMBER K; H4FK;; H4/K Asterisk 602832 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER G; HIST1H4G HISTONE GENE CLUSTER 1, H4G;; HIST1 CLUSTER, H4G;; H4 HISTONE FAMILY, MEMBER L; H4FL;; H4/L Asterisk 602833 HISTONE GENE CLUSTER 1, H4 HISTONE FAMILY, MEMBER I; HIST1H4I HISTONE GENE CLUSTER 1, H4I;; HIST1 CLUSTER, H4I;; H4 HISTONE FAMILY, MEMBER M; H4FM; H4M H4FM/BCL6 FUSION GENE, INCLUDED Caret 602834 MOVED TO 600279 Asterisk 602835 GROWTH ARREST-SPECIFIC 2; GAS2 Asterisk 602836 PURINERGIC RECEPTOR P2X, LIGAND-GATED ION CHANNEL, 5; P2RX5 P2X5R; P2X5 Asterisk 602837 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 1; DNAJA1 DJA1;; HEAT-SHOCK PROTEIN, DNAJ-LIKE 2; HDJ2; HSJ2; HSDJ;; HEAT-SHOCK 40-KD PROTEIN 4; HSPF4 Asterisk 602838 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, BETA; PIK3C2B Asterisk 602839 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, DELTA; PIK3CD PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, DELTA;; p110-DELTA;; PI3K-DELTA;; PIK3-DELTA Asterisk 602840 CD70 ANTIGEN; CD70 CD27 LIGAND; CD27L;; TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 7; TNFSF7 Asterisk 602841 ALDEHYDE OXIDASE 1; AOX1 Asterisk 602842 GEMININ; GMNN GEM Asterisk 602843 RHO GDP-DISSOCIATION INHIBITOR BETA; ARHGDIB GDP-DISSOCIATION INHIBITOR D4; GDID4; D4;; LYGDI Asterisk 602844 RHO GDP-DISSOCIATION INHIBITOR GAMMA; ARHGDIG RHOGDI-GAMMA Asterisk 602845 KINESIN FAMILY MEMBER 3C; KIF3C Asterisk 602846 UBIQUITIN-CONJUGATING ENZYME E2K; UBE2K HUNTINGTIN-INTERACTING PROTEIN 2; HIP2;; UBIQUITIN-CONJUGATING ENZYME E2-25K Asterisk 602847 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER C; HIST1H2BC HISTONE GENE CLUSTER 1, H2BC;; HIST1 CLUSTER, H2BC;; H2B HISTONE FAMILY, MEMBER L; H2BFL;; H2B/L Asterisk 602848 BROMODOMAIN-CONTAINING PROTEIN 8; BRD8 SKELETAL MUSCLE ABUNDANT PROTEIN; SMAP;; THYROID HORMONE RECEPTOR-INTERACTING PROTEIN p120 Number Sign 602849 MUENKE SYNDROME; MNKES MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS Asterisk 602850 RING FINGER PROTEIN 4; RNF4 Asterisk 602851 ADHESION G PROTEIN-COUPLED RECEPTOR V1; ADGRV1 G PROTEIN-COUPLED RECEPTOR 98; GPR98;; MONOGENIC AUDIOGENIC SEIZURE SUSCEPTIBILITY 1, MOUSE, HOMOLOG OF; MASS1;; VERY LARGE G PROTEIN-COUPLED RECEPTOR 1; VLGR1;; KIAA0686 Asterisk 602852 NUDIX HYDROLASE 2; NUDT2 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 2;; NUDIX MOTIF 2;; AP4A HYDROLASE 1; APAH1 Asterisk 602853 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, R; PTPRR PC12 PROTEIN-TYROSINE PHOSPHATASE; PCPTP1 Asterisk 602854 PROTEASOME SUBUNIT, ALPHA-TYPE, 1; PSMA1 PROTEASOME SUBUNIT NU;; HC2;; PROS30 Asterisk 602855 PROTEASOME SUBUNIT, ALPHA-TYPE, 6; PSMA6 PROTEASOME SUBUNIT IOTA;; PROS27;; p27K Asterisk 602856 REGULATOR OF G PROTEIN SIGNALING 10; RGS10 Asterisk 602857 CHIMERIN 2; CHN2 CHIMERIN, BETA-2;; GTPase-ACTIVATING PROTEIN, RHO, 3; ARHGAP3;; RHO GTPase-ACTIVATING PROTEIN 3; RHOGAP3 CHIMERIN, BETA, INCLUDED;; CHIMERIN, BETA-1, INCLUDED;; CHIMERIN, TESTIS-SPECIFIC, INCLUDED Asterisk 602858 7-DEHYDROCHOLESTEROL REDUCTASE; DHCR7 STEROL DELTA-7-REDUCTASE Asterisk 602859 PEROXISOME BIOGENESIS FACTOR 10; PEX10 PEROXIN 10 Asterisk 602860 BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF, BETA; BUB1B BUB1, S. CEREVISIAE, HOMOLOG OF, BETA;; MITOTIC CHECKPOINT GENE BUB1B;; BUBR1 Asterisk 602861 PLAKOPHILIN 2; PKP2 Asterisk 602862 UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1 SPERM-ASSOCIATED ANTIGEN 2; SPAG2;; ANTIGEN X; AgX Asterisk 602863 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9A; WNT9A WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 14; WNT14 Asterisk 602864 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 9B; WNT9B WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 15; WNT15 Asterisk 602865 BONE MORPHOGENETIC PROTEIN/RETINOIC ACID-INDUCIBLE NEURAL-SPECIFIC PROTEIN 1; BRINP1 DELETED IN BLADDER CANCER 1; DBC1;; DELETED IN BLADDER CANCER CHROMOSOME REGION CANDIDATE 1; DBCCR1 Asterisk 602866 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 2; ACCN2 BRAIN SODIUM CHANNEL 2; BNAC2;; ACID-SENSING ION CHANNEL; ASIC;; ASIC1 Asterisk 602867 INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN 7; IGFBP7 IGF-BINDING PROTEIN-RELATED PROTEIN 1; IGFBPRP1;; MAC25;; PROSTACYCLIN-STIMULATING FACTOR; PSF;; ANGIOMODULIN; AGM Asterisk 602868 CELL DIVISION CYCLE 5, S. POMBE, HOMOLOG OF; CDC5L CDC5-LIKE Asterisk 602869 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRNPU HNRPU;; SCAFFOLD ATTACHMENT FACTOR A; SAFA Asterisk 602870 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 1; IMPG1 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 150; IPM150 Asterisk 602871 PERIPLAKIN; PPL Asterisk 602872 CHLORIDE INTRACELLULAR CHANNEL 1; CLIC1 NCC27 Asterisk 602873 NEBULIN-RELATED ANCHORING PROTEIN; NRAP Asterisk 602874 UDP-GLUCOSE CERAMIDE GLUCOSYLTRANSFERASE; UGCG GLUCOSYLCERAMIDE SYNTHASE; GCS;; CERAMIDE GLUCOSYLTRANSFERASE Number Sign 602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA Asterisk 602876 OCCLUDIN; OCLN Asterisk 602877 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 7; PPP1R7 SDS22, S. POMBE, HOMOLOG OF Asterisk 602878 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 3; SLC30A3 ZINC TRANSPORTER 3; ZNT3 Asterisk 602879 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 1; EPB41L1 NONERYTHROID PROTEIN 4.1, NEURON TYPE; 4.1N Asterisk 602880 GROWTH/DIFFERENTIATION FACTOR 1; GDF1 Asterisk 602881 PHD FINGER PROTEIN 1; PHF1 POLYCOMBLIKE, DROSOPHILA, HOMOLOG OF, 1; PCL1;; PCL, DROSOPHILA, HOMOLOG OF, 1 Asterisk 602882 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 2; LECT2 Asterisk 602883 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1A2; SLCO1A2 ORGANIC ANION TRANSPORTER A; OATPA;; ORGANIC ANION TRANSPORTER 1A2; OATP1A2;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 3, FORMERLY; SLC21A3, FORMERLY Asterisk 602884 GDP-MANNOSE 4,6-DEHYDRATASE; GMDS GMD Asterisk 602885 MOTILIN RECEPTOR; MLNR MOTILIN RECEPTOR 1; MTLR1;; G PROTEIN-COUPLED RECEPTOR 38; GPR38 Asterisk 602886 G PROTEIN-COUPLED RECEPTOR 39; GPR39 Asterisk 602887 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 4; DLG4 POSTSYNAPTIC DENSITY 95; PSD95;; SYNAPSE-ASSOCIATED PROTEIN 90; SAP90 Asterisk 602888 BETAINE-HOMOCYSTEINE METHYLTRANSFERASE; BHMT Caret 602889 MOVED TO 601533 Asterisk 602890 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; KLRB1 NKRP1A;; NKR;; CD161 Asterisk 602891 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 2; KLRC2 NKG2C Asterisk 602892 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 3; KLRC3 NKG2E Asterisk 602893 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY C, MEMBER 4; KLRC4 NKG2F Asterisk 602894 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY D, MEMBER 1; KLRD1 CD94 ANTIGEN; CD94 Asterisk 602895 SCAFFOLD ATTACHMENT FACTOR B; SAFB SAFB1;; HSP27 ESTROGEN RESPONSE ELEMENT- AND TATA BOX-BINDING PROTEIN; HET Asterisk 602896 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9 PROTEIN KINASE, MITOGEN-ACTIVATED, 9; PRKM9;; C-JUN KINASE 2; JNK2 Asterisk 602897 MITOGEN-ACTIVATED PROTEIN KINASE 10; MAPK10 PROTEIN KINASE, MITOGEN-ACTIVATED, 10; PRKM10;; C-JUN KINASE 3; JNK3 Asterisk 602898 MITOGEN-ACTIVATED PROTEIN KINASE 11; MAPK11 PROTEIN KINASE, MITOGEN-ACTIVATED, 11; PRKM11;; STRESS-ACTIVATED PROTEIN KINASE 2B; SAPK2B;; p38-BETA;; p38-2;; p38-BETA-2 Asterisk 602899 MITOGEN-ACTIVATED PROTEIN KINASE 13; MAPK13 PROTEIN KINASE, MITOGEN-ACTIVATED, 13; PRKM13;; STRESS-ACTIVATED PROTEIN KINASE 4; SAPK4;; p38-DELTA Asterisk 602900 DNA METHYLTRANSFERASE 3B; DNMT3B Asterisk 602901 TRANSPORTIN 1; TNPO1 TRANSPORTIN;; KARYOPHERIN BETA-2; KPNB2;; M9-INTERACTING PROTEIN; MIP1;; IMPORTIN BETA-2 Asterisk 602902 KRUPPEL-LIKE FACTOR 9; KLF9 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 1; BTEB1;; BTEB Asterisk 602903 KRUPPEL-LIKE FACTOR 5; KLF5 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 2; BTEB2 Asterisk 602904 MITOGEN-ACTIVATED PROTEIN KINASE 6; MAPK6 PROTEIN KINASE, MITOGEN-ACTIVATED, 6; PRKM6;; EXTRACELLULAR SIGNAL-REGULATED KINASE 3; ERK3;; p97MAPK Asterisk 602905 POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 1; KCNS1 VOLTAGE-GATED POTASSIUM CHANNEL 9.1; KV9.1 Asterisk 602906 POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 2; KCNS2 VOLTAGE-GATED POTASSIUM CHANNEL 9.2; KV9.2 Asterisk 602907 CENTRIN 3; CETN3 CDC31, S. CEREVISIAE, HOMOLOG OF Asterisk 602908 RETINOBLASTOMA-BINDING PROTEIN 9; RBBP9 B5T OVEREXPRESSED GENE; BOG;; RBBP10 Asterisk 602909 CLAUDIN 4; CLDN4 CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR 1; CPETR1;; CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR, HIGH AFFINITY;; ENTEROTOXIN OF CLOSTRIDIUM PERFRINGENS, RECEPTOR OF, 1;; CPER Asterisk 602910 CLAUDIN 3; CLDN3 CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR 2; CPETR2;; CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR, LOW AFFINITY;; ENTEROTOXIN OF CLOSTRIDIUM PERFRINGENS, RECEPTOR OF, 2;; VENTRAL PROSTATE 1, RAT, HOMOLOG OF;; RVP1 ANDROGEN WITHDRAWAL APOPTOSIS PROTEIN, RAT, HOMOLOG OF Asterisk 602911 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-2 SUBUNIT; CACNG2 STARGAZIN, MOUSE, HOMOLOG OF;; TRANSMEMBRANE AMPA RECEPTOR REGULATORY PROTEIN, GAMMA-2;; TARP-GAMMA-2 Asterisk 602912 EUKARYOTIC TRANSLATION INITIATION FACTOR 6; EIF6 INTEGRIN, BETA-4, BINDING PROTEIN OF; ITGB4BP;; p27, BETA-4 INTEGRIN-BINDING PROTEIN; p27BBP;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3A; EIF3A Asterisk 602913 POLO-LIKE KINASE 3; PLK3 CYTOKINE-INDUCIBLE KINASE; CNK;; PROLIFERATION-RELATED KINASE; PRK Asterisk 602914 AQUAPORIN 9; AQP9 Asterisk 602915 TRYPTOPHAN-RICH BASIC PROTEIN; WRB CONGENITAL HEART DISEASE 5 GENE, FORMERLY; CHD5, FORMERLY Asterisk 602916 UBIQUITIN-CONJUGATING ENZYME E2E 1; UBE2E1 UBIQUITIN-CONJUGATING ENZYME UBCH6; UBCH6;; UBCM3 Asterisk 602917 REGULATOR OF CALCINEURIN 1; RCAN1 DOWN SYNDROME CRITICAL REGION GENE 1; DSCR1;; MYOCYTE-ENRICHED CALCINEURIN-INTERACTING PROTEIN 1; MCIP1;; MODULATORY CALCINEURIN-INTERACTING PROTEIN 1;; CALCIPRESSIN 1; CSP1 Asterisk 602918 PHENYLALANINE-tRNA SYNTHETASE, ALPHA SUBUNIT; FARSA PHENYLALANINE-tRNA SYNTHETASE, CYTOPLASMIC, ALPHA SUBUNIT; FRSA;; PHENYLALANINE-tRNA SYNTHETASE-LIKE, ALPHA SUBUNIT; FARSLA;; PHERSA;; CML33 Asterisk 602919 DOCKING PROTEIN 1; DOK1 DOCKING PROTEIN, 62-KD;; p62DOK;; DOWNSTREAM OF TYROSINE KINASE 1 Asterisk 602920 LIM AND SH3 PROTEIN 1; LASP1 MLN50 LASP1/MLL FUSION GENE, INCLUDED Asterisk 602921 PERSEPHIN; PSPN Caret 602922 MOVED TO 300825 Asterisk 602923 RETINOBLASTOMA-BINDING PROTEIN 4; RBBP4 RBAP48 Asterisk 602924 RHO FAMILY GTPase 3; RND3 RAS HOMOLOG GENE FAMILY, MEMBER E; RHOE;; ARHE Asterisk 602925 PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, BETA; PIK3CB PHOSPHATIDYLINOSITOL 3-KINASE, CATALYTIC, 110-KD, BETA;; p110-BETA;; PI3KCB;; PI3K-BETA;; PIK3-BETA Asterisk 602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1 UNC18, C. ELEGANS, HOMOLOG OF, 1;; MUNC18-1 Asterisk 602927 G PROTEIN-COUPLED RECEPTOR 19; GPR19 Asterisk 602928 TROPOMODULIN 2; TMOD2 TROPOMODULIN, NEURON-SPECIFIC;; N-TROPOMODULIN; NTMOD Asterisk 602929 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 5A; VWA5A LOSS OF HETEROZYGOSITY, CHROMOSOME 11, REGION 2, GENE A; LOH11CR2A;; BREAST CANCER SUPPRESSOR CANDIDATE 1; BCSC1 Asterisk 602930 RNA EXONUCLEASE 4, S. CEREVISIAE, HOMOLOG OF; REXO4 REX4, S. CEREVISIAE, HOMOLOG OF; REX4;; PREVENTS MITOTIC CATASTROPHE 2, XENOPUS, HOMOLOG OF; XPMC2H Asterisk 602931 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 6; SMAD6 MADH6;; SMA- AND MAD-RELATED PROTEIN 6 Asterisk 602932 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 7; SMAD7 MADH7;; SMA- AND MAD-RELATED PROTEIN 7 Asterisk 602933 THYROID HORMONE RECEPTOR INTERACTOR 6; TRIP6 OPA-INTERACTING PROTEIN 1; OIP1 Asterisk 602934 STROMAL CELL-DERIVED FACTOR 2; SDF2 Asterisk 602935 FATTY ACID AMIDE HYDROLASE; FAAH Caret 602936 MOVED TO 300149 Asterisk 602937 CBP/p300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 2; CITED2 MELANOCYTE-SPECIFIC GENE 1-RELATED GENE 1; MRG1;; MSG1-RELATED GENE 1;; p35SRJ Asterisk 602938 BILE ACID CoA:AMINO ACID N-ACYLTRANSFERASE; BAAT BACAT; BAT;; GLYCINE N-CHOLOYLTRANSFERASE Asterisk 602939 FORKHEAD BOX S1; FOXS1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 18; FKHL18;; FORKHEAD-RELATED ACTIVATOR 10; FREAC10 Asterisk 602940 MARCKS-LIKE PROTEIN 1; MARCKSL1 MLP;; MARCKS-RELATED PROTEIN; MRP;; MAC-MARCKS;; F52 Asterisk 602941 BREAST CANCER ANTIESTROGEN RESISTANCE 1; BCAR1 CRK-ASSOCIATED SUBSTRATE; CRKAS;; p130CAS;; CAS Asterisk 602942 ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5 NEUROBLASTOMA STAGE 4S GENE; NB4S Asterisk 602943 RAR-RELATED ORPHAN RECEPTOR C; RORC RAR-RELATED ORPHAN RECEPTOR GAMMA; RORG;; RZR-GAMMA; RZRG;; RETINOIC ACID-BINDING RECEPTOR GAMMA Asterisk 602944 E2F TRANSCRIPTION FACTOR 6; E2F6 Asterisk 602945 TRANSCRIPTIONAL ADAPTOR 3; TADA3 TRANSCRIPTIONAL ADAPTOR 3-LIKE; TADA3L;; ADA3, YEAST, HOMOLOG OF; ADA3 Asterisk 602946 TAF6-LIKE RNA POLYMERASE II; TAF6L PCAF-ASSOCIATED FACTOR 65 ALPHA; PAF65A;; PCAF-ASSOCIATED FACTOR, 65-KD Asterisk 602947 SUPPRESSOR OF TY 3, S. CEREVISIAE, HOMOLOG OF; SUPT3H SPT3 Asterisk 602948 RAD51, S. CEREVISIAE, HOMOLOG OF, B; RAD51L1 S. CEREVISIAE RAD51-LIKE 1;; RAD51B;; REC2;; RAD51 HOMOLOG 2; R51H2 RAD51L1/HMGIC FUSION GENE, INCLUDED Asterisk 602949 SIN3-ASSOCIATED POLYPEPTIDE, 18-KD; SAP18 Asterisk 602950 PROTEIN ARGININE METHYLTRANSFERASE 1; PRMT1 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 2; HRMT1L2;; HMT1-LIKE 2;; INTERFERON RECEPTOR 1-BOUND PROTEIN 4; IR1B4 Asterisk 602951 ZINC FINGER PROTEIN 37, MOUSE, HOMOLOG OF; ZFP37 Asterisk 602952 NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 2; NSD2 WOLF-HIRSCHHORN SYNDROME CANDIDATE 1; WHSC1;; MULTIPLE MYELOMA SET DOMAIN; MMSET Asterisk 602953 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 1; HEY1 HAIRY/ENHANCER OF SPLIT-RELATED REPRESSOR PROTEIN 2; HERP2;; HESR1 Asterisk 602954 RAD51, S. CEREVISIAE, HOMOLOG OF, D; RAD51D S. CEREVISIAE RAD51-LIKE 3; RAD51L3;; TRAD Asterisk 602955 TAF6 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 80-KD; TAF6 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2E; TAF2E;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 70- TO 85-KD;; TAFII80;; TAFII70;; TAFII85 Asterisk 602956 FANCG GENE; FANCG X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9 Asterisk 602957 CHEMOKINE, CC MOTIF, LIGAND 22; CCL22 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 22; SCYA22;; MACROPHAGE-DERIVED CHEMOKINE; MDC Asterisk 602958 SERUM/GLUCOCORTICOID-REGULATED KINASE 1; SGK1 SGK Asterisk 602959 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, ALPHA-2; EEF1A2 ELONGATION FACTOR 1, ALPHA-2 Caret 602960 MOVED TO 300506 Asterisk 602961 UBIQUITIN-CONJUGATING ENZYME E2D 1; UBE2D1 UBC4/5, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN-CONJUGATING ENZYME UBCH5A; UBCH5A;; UBCH5 Asterisk 602962 UBIQUITIN-CONJUGATING ENZYME E2D 2; UBE2D2 UBC4/5, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN-CONJUGATING ENZYME UBCH5B; UBCH5B;; UBC4 Asterisk 602963 UBIQUITIN-CONJUGATING ENZYME E2D 3; UBE2D3 UBC4/5, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN-CONJUGATING ENZYME UBCH5C; UBCH5C Asterisk 602964 TRANSLIN-ASSOCIATED FACTOR X; TSNAX TRAX Asterisk 602965 FATTY ACID-BINDING PROTEIN 7; FABP7 FATTY ACID-BINDING PROTEIN, BRAIN; FABPB;; BRAIN LIPID-BINDING PROTEIN; BLBP Percent 602966 OROFACIAL CLEFT 2; OFC2 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 2 Asterisk 602967 ZINC FINGER PROTEIN 217; ZNF217 Asterisk 602968 BREAST CARCINOMA AMPLIFIED SEQUENCE 1; BCAS1 NOVEL AMPLIFIED IN BREAST CANCER 1; NABC1 Asterisk 602969 ESTROGEN-RELATED RECEPTOR, GAMMA; ESRRG ESTROGEN-RELATED RECEPTOR 3; ERR3 Asterisk 602970 KARYOPHERIN ALPHA-4; KPNA4 IMPORTIN ALPHA-3;; QIP1 Asterisk 602971 TUBULIN-SPECIFIC CHAPERONE C; TBCC COFACTOR C IN BETA-TUBULIN FOLDING; CFC Asterisk 602972 PHOSPHODIESTERASE 8A; PDE8A Asterisk 602973 PHOSPHODIESTERASE 9A; PDE9A HOMO SAPIENS PHOSPHODIESTERASE 9A2; HSPDE9A2 Asterisk 602974 AQUAPORIN 7; AQP7 AQUAPORIN 7-LIKE; AQP7L;; AQUAPORIN, ADIPOSE;; AQPAP Caret 602975 MOVED TO 608833 Asterisk 602976 MAX-LIKE PROTEIN X; MLX TRANSCRIPTION FACTOR-LIKE 4; TCFL4 Asterisk 602977 GLYCOPROTEIN 2, ZYMOGEN GRANULE MEMBRANE; GP2 ZYMOGEN GRANULE MEMBRANE GLYCOPROTEIN 2 Asterisk 602978 POLYHOMEOTIC-LIKE 1; PHC1 EARLY DEVELOPMENT REGULATOR 1; EDR1;; POLYHOMEOTIC, DROSOPHILA, HOMOLOG OF, 1;; HUMAN POLYHOMEOTIC HOMOLOG 1; HPH1;; RETINOIC ACID-ACTIVATED EARLY-28, MOUSE, HOMOLOG OF; RAE28 Asterisk 602979 POLYHOMEOTIC-LIKE 2; PHC2 EARLY DEVELOPMENT REGULATOR 2; EDR2;; POLYHOMEOTIC, DROSOPHILA, HOMOLOG OF, 2;; HUMAN POLYHOMEOTIC HOMOLOG 2; HPH2 Asterisk 602980 PROTEIN KINASE, SERINE/ARGININE-SPECIFIC, 2; SRPK2 PROTEIN KINASE, ARGININE/SERINE-RICH SPLICING FACTOR, 2;; SFRS PROTEIN KINASE 2 Asterisk 602981 AE-BINDING PROTEIN 1; AEBP1 AORTIC CARBOXYPEPTIDASE-LIKE PROTEIN; ACLP Asterisk 602982 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 1; KCNN1 SK1 Asterisk 602983 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 3; KCNN3 SK3;; SKCA3 Asterisk 602984 MEDIATOR COMPLEX SUBUNIT 6; MED6 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 6, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II TRANSCRIPTIONAL REGULATION MEDIATOR Asterisk 602985 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2; NDUFS2 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 49-KD SUBUNIT Asterisk 602986 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 2; DRG2 Asterisk 602987 PHOSPHODIESTERASE 1C; PDE1C HCAM3 Asterisk 602988 PROTOCADHERIN 7; PCDH7 BRAIN-HEART PROTOCADHERIN; BHPCDH Asterisk 602989 CDC-LIKE KINASE 2; CLK2 Asterisk 602990 CDC-LIKE KINASE 3; CLK3 Asterisk 602991 NOGGIN, MOUSE, HOMOLOG OF; NOG Asterisk 602992 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 1; LAIR1 Asterisk 602993 LEUKOCYTE-ASSOCIATED IMMUNOGLOBULIN-LIKE RECEPTOR 2; LAIR2 CD306 NULL 602994 LEUKOREGULIN Asterisk 602995 UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 1; UBE2V1 UEV1; UEV1A;; CROC1 Asterisk 602996 IMMEDIATE-EARLY RESPONSE 3; IER3 DIFFERENTIATION-DEPENDENT GENE 2; DIF2;; GLY96, MOUSE, HOMOLOG OF;; IMMEDIATE-EARLY RESPONSE GENE; IEX1;; PACAP-RESPONSIVE GENE 1; PRG1 Asterisk 602997 CUBILIN; CUBN INTRINSIC FACTOR-COBALAMIN RECEPTOR; IFCR Asterisk 602998 SYNUCLEIN, GAMMA; SNCG BREAST CANCER-SPECIFIC GENE 1; BCSG1;; PERSYN Asterisk 602999 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3C; PPP1R3C PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 5; PPP1R5 Asterisk 603000 IMMATURE COLON CARCINOMA TRANSCRIPT 1; ICT1 DS1 Asterisk 603001 UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 2; UBE2V2 UEV2;; 1-ALPHA,25-DIHYDROXYVITAMIN D3-INDUCIBLE TRANSCRIPT 1; DDVIT1;; ENTEROCYTE DIFFERENTIATION-PROMOTING FACTOR 1; EDPF1;; METHYL METHANESULFONATE SENSITIVE 2, S. CEREVISIAE, HOMOLOG OF; MMS2 Asterisk 603002 TRANSPORTIN 2; TNPO2 TRN2;; KARYOPHERIN BETA-2B; KPNB2B Percent 603003 BILE DUCT CYSTS CHOLEDOCHAL CYSTS;; CHOLEDOCHOCELE Asterisk 603004 GLIOBLASTOMA AMPLIFIED SEQUENCE; GBAS 4-NITROPHENYLPHOSPHATASE DOMAIN AND NONNEURONAL SNAP25-LIKE 2; NIPSNAP2;; NIPSNAP, C. ELEGANS, HOMOLOG OF, 2 Asterisk 603005 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 2; PAPSS2 PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 2;; PAPS SYNTHASE 2;; PAPS SYNTHETASE 2;; ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 2; ATPSK2;; ATP SULFURYLASE/APS KINASE 2; SK2 Asterisk 603006 CADHERIN 4; CDH4 CADHERIN, RETINAL;; R-CADHERIN Asterisk 603007 CADHERIN 6; CDH6 CADHERIN, FETAL KIDNEY;; K-CADHERIN Asterisk 603008 CADHERIN 8; CDH8 Asterisk 603009 DYSFERLIN; DYSF Percent 603010 DEAFNESS, AUTOSOMAL RECESSIVE 17; DFNB17 Asterisk 603011 SMALL EDRK-RICH FACTOR 1A; SERF1A SMALL EDRK-RICH FACTOR 1; SERF1;; SPINAL MUSCULAR ATROPHY-RELATED GENE H4F5; H4F5;; SMA MODIFIER 1; SMAM1 Asterisk 603012 HEAT-SHOCK 70-KD PROTEIN 1B; HSPA1B HEAT-SHOCK PROTEIN, 70-KD, 1B;; HSP70-1B;; HEAT-SHOCK PROTEIN, 70-KD, 2;; HSP70-2 Percent 603013 SCHIZOPHRENIA 6; SCZD6 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED Asterisk 603014 MITOGEN-ACTIVATED PROTEIN KINASE KINASE 7; MAP2K7 PROTEIN KINASE, MITOGEN-ACTIVATED, KINASE 7; PRKMK7;; MKK7; MAPKK7;; JNK-ACTIVATING KINASE 2; JNKK2 Asterisk 603015 TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN; TRRAP PAF400 Asterisk 603016 CADHERIN 19; CDH19 CADHERIN 7, FORMERLY; CDH7, FORMERLY Asterisk 603017 CADHERIN 17; CDH17 CADHERIN, LIVER-INTESTINE;; LI-CADHERIN;; HUMAN PEPTIDE TRANSPORTER 1; HPT1;; CADHERIN 16, FORMERLY; CDH16, FORMERLY Asterisk 603018 BETA-3-GALACTOSYLTRANSFERASE 2; B3GALT2 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 2;; BETA-3-GALT2 Asterisk 603019 CADHERIN 18; CDH18 CADHERIN 14, FORMERLY; CDH14, FORMERLY Asterisk 603020 ATPase FAMILY GENE 3-LIKE 1; AFG3L1 AFG3, YEAST, HOMOLOG OF Asterisk 603021 MITOCHONDRIAL RIBOSOMAL PROTEIN S12; MRPS12 RIBOSOMAL PROTEIN, MITOCHONDRIAL, S12; RPMS12;; RPSM12 Asterisk 603022 E4F TRANSCRIPTION FACTOR 1; E4F1 TRANSCRIPTION FACTOR E4F; E4F;; p120 E4F Asterisk 603023 IKAROS FAMILY ZINC FINGER 1; IKZF1 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 1; ZNFN1A1;; IKAROS; IK1;; LYF1 IKAROS/BCL6 FUSION GENE, INCLUDED Asterisk 603024 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A ARID-CONTAINING PROTEIN 1A;; SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY F, MEMBER 1; SMARCF1;; BRG1-ASSOCIATED FACTOR, 250-KD, A; BAF250A;; CHROMOSOME 1 OPEN READING FRAME 4; C1ORF4;; B120 GENE; B120;; p270 Asterisk 603025 PHOSPHATIDYLINOSITOL-BINDING CLATHRIN ASSEMBLY PROTEIN; PICALM CLATHRIN ASSEMBLY LYMPHOID-MYELOID LEUKEMIA GENE; CALM;; CLTH;; LAP, DROSOPHILA, HOMOLOG OF; LAP PICALM/AF10 FUSION GENE, INCLUDED Asterisk 603026 PLEOMORPHIC ADENOMA GENE 1; PLAG1 PLAG1/CTNNB1 FUSION GENE, INCLUDED;; PLAG1/TCEA1 FUSION GENE, INCLUDED;; PLAG1/CHCHD7 FUSION GENE, INCLUDED Asterisk 603027 FRUCTOSE-1,6-BISPHOSPHATASE 2; FBP2 D-FRUCTOSE-1,6-BISPHOSPHATE 1-PHOSPHOHYDROLASE;; FRUCTOSE-1,6-BISPHOSPHATASE, MUSCLE Asterisk 603028 TOLL-LIKE RECEPTOR 2; TLR2 TOLL/INTERLEUKIN 1 RECEPTOR-LIKE 4; TIL4 Asterisk 603029 TOLL-LIKE RECEPTOR 3; TLR3 Asterisk 603030 TOLL-LIKE RECEPTOR 4; TLR4 TOLL, DROSOPHILA, HOMOLOG OF; TOLL Asterisk 603031 TOLL-LIKE RECEPTOR 5; TLR5 TOLL/INTERLEUKIN 1 RECEPTOR-LIKE 5; TIL3 Asterisk 603032 STANNIN; SNN Asterisk 603033 COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; COLQ ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN Number Sign 603034 MYASTHENIC SYNDROME, CONGENITAL, 5; CMS5 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD;; ENGEL CONGENITAL MYASTHENIC SYNDROME;; MYASTHENIC SYNDROME, CONGENITAL, ENGEL TYPE;; CONGENITAL MYASTHENIC SYNDROME TYPE Ic, FORMERLY; CMS1C, FORMERLY;; CMS Ic, FORMERLY Asterisk 603035 INTERLEUKIN 16; IL16 LYMPHOCYTE CHEMOATTRACTANT FACTOR; LCF Caret 603036 MOVED TO 601877 Asterisk 603037 LEFT-RIGHT DETERMINATION FACTOR 1; LEFTY1 LEFT-RIGHT DETERMINATION, FACTOR B; LEFTY B;; LEFTY1, MOUSE, HOMOLOG OF;; LEFTB Asterisk 603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4 Asterisk 603039 MAX-BINDING PROTEIN; MNT ROX Percent 603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 TSG11;; NONSMALL CELL LUNG CANCER SUPPRESSOR Number Sign 603041 MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED;; MNGIE, TYMP-RELATED;; MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME;; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION;; POLIP SYNDROME Asterisk 603042 SMALL UBIQUITIN-LIKE MODIFIER 2; SUMO2 SMT3, YEAST, HOMOLOG 2; SMT3H2;; SMT3B;; SENTRIN 2 Asterisk 603043 NEUTRAL SPHINGOMYELINASE ACTIVATION-ASSOCIATED FACTOR; NSMAF N-SMase ACTIVATION-ASSOCIATED FACTOR;; FACTOR ASSOCIATED WITH N-SMase ACTIVATION; FAN Asterisk 603044 PLEOMORPHIC ADENOMA GENE-LIKE 1; PLAGL1 ZAC TUMOR SUPPRESSOR GENE; ZAC;; ZAC1;; LOST ON TRANSFORMATION 1; LOT1 Caret 603045 MOVED TO 603499 Asterisk 603046 RING FINGER PROTEIN 139; RNF139 TRANSLOCATION IN RENAL CARCINOMA ON CHROMOSOME 8; TRC8;; HEREDITARY RENAL CANCER ASSOCIATED 1; HRCA1 Percent 603047 ASTIGMATISM Asterisk 603048 GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR ATTACHMENT PROTEIN 1; GPAA1 GAA1 Asterisk 603049 THIOREDOXIN-LIKE 1; TXNL1 THIOREDOXIN-LIKE; TXNL;; TXL Asterisk 603050 ABL INTERACTOR 1; ABI1 SPECTRIN SH3 DOMAIN-BINDING PROTEIN 1; SSH3BP1;; E3B1 ABI1/MLL FUSION GENE, INCLUDED Asterisk 603051 ALKYLGLYCERONE-PHOSPHATE SYNTHASE; AGPS ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE; ADHAPS;; ALKYL-DHAP SYNTHASE Asterisk 603052 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 4; CPSF4 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 30-KD; CPSF30;; NS1 EFFECTOR DOMAIN-BINDING PROTEIN 1; NEB1 Asterisk 603053 HISTONE ACETYLTRANSFERASE 1; HAT1 Asterisk 603054 GREMLIN 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM1 GREMLIN;; CYSTINE KNOT SUPERFAMILY 1, BMP ANTAGONIST 1; CKTSF1B1 Asterisk 603055 SKI-INTERACTING PROTEIN; SKIIP SKIP;; BX42, DROSOPHILA, HOMOLOG OF;; SNW1 Asterisk 603056 ORIGIN RECOGNITION COMPLEX, SUBUNIT 4, S. CEREVISIAE, HOMOLOG OF; ORC4 ORC4-LIKE; ORC4L Asterisk 603057 DACHSOUS, DROSOPHILA, HOMOLOG OF, 1; DCHS1 PROTOCADHERIN 16; PCDH16;; CADHERIN, FIBROBLAST, 1; FIB1;; CADHERIN 19, FORMERLY; CDH19, FORMERLY Asterisk 603058 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 4; PCDHGB4 CADHERIN, FIBROBLAST, 2; FIB2;; CADHERIN 20, FORMERLY; CDH20, FORMERLY Asterisk 603059 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 12; PCDHGA12 PCDH-GAMMA-A12;; CADHERIN, FIBROBLAST, 3; FIB3;; KIAA0588;; CADHERIN 21, FORMERLY; CDH21, FORMERLY Asterisk 603060 KINESIN FAMILY MEMBER 1C; KIF1C LTXS1, MOUSE, HOMOLOG OF; LTXS1;; KIAA0706 Asterisk 603061 ENDOSULFINE, ALPHA; ENSA Asterisk 603062 TRANS-GOLGI NETWORK PROTEIN 2; TGOLN2 TRANS-GOLGI NETWORK PROTEIN, 46-KD; TGN46;; TRANS-GOLGI NETWORK PROTEIN, 38-KD, RAT, HOMOLOG OF; TGN38 Asterisk 603063 3-HYDROXYBUTYRATE DEHYDROGENASE 1; BDH1 3-HYDROXYBUTYRATE DEHYDROGENASE; BDH Asterisk 603064 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B11; UGT2B11 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B11;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER B11 Asterisk 603065 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 2; NR1I2 PREGNANE X RECEPTOR; PXR;; STEROID AND XENOBIOTIC RECEPTOR; SXR;; PAR;; PAR1 PAR2, INCLUDED Asterisk 603066 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 3; PLOD3 LYSINE HYDROXYLASE 3; LH3;; LYSYL HYDROXYLASE 3 Caret 603067 MOVED TO 602413 Asterisk 603068 DUAL-SPECIFICITY PHOSPHATASE 2; DUSP2 PHOSPHATASE OF ACTIVATED CELLS 1; PAC1 Asterisk 603069 DUAL-SPECIFICITY PHOSPHATASE 5; DUSP5 VH1-LIKE PHOSPHATASE 3; HVH3 Asterisk 603070 RAD51-ASSOCIATED PROTEIN 1; RAD51AP1 PROTEIN INTERACTING WITH RAD51; PIR51 Asterisk 603071 G PROTEIN-COUPLED RECEPTOR 17; GPR17 Asterisk 603072 AURORA KINASE A; AURKA SERINE/THREONINE PROTEIN KINASE 15; STK15;; STK6, MOUSE, HOMOLOG OF; STK6;; AURORA-RELATED KINASE 1; ARK1;; AURORA/IPL1-LIKE KINASE; AIK;; AURORA2;; BTAK Asterisk 603073 ZIC FAMILY, MEMBER 2; ZIC2 ZINC FINGER PROTEIN OF CEREBELLUM 2 Asterisk 603074 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, GAMMA SUBUNIT; PAFAH1B3 Number Sign 603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 MACULOPATHY, AGE-RELATED, 1 Asterisk 603076 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 1; ABCG1 ATP-BINDING CASSETTE TRANSPORTER 8; ABC8;; ABC TRANSPORTER 8;; WHITE, DROSOPHILA, HOMOLOG OF Caret 603077 MOVED TO 300157 Asterisk 603078 CHECKPOINT, S. POMBE, HOMOLOG OF, 1; CHEK1 CELL CYCLE CHECKPOINT KINASE; CHK1 Asterisk 603079 CHROMOBOX HOMOLOG 4, DROSOPHILA POLYCOMB CLASS; CBX4 POLYCOMB, DROSOPHILA, HOMOLOG OF, 2; PC2 Asterisk 603080 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, BETAINE/GABA), MEMBER 12; SLC6A12 BETAINE/GABA TRANSPORTER 1; BGT1;; GABA TRANSPORTER 2, MOUSE, HOMOLOG OF; GAT2 Asterisk 603081 ADP-RIBOSYLARGININE HYDROLASE; ADPRH Caret 603082 MOVED TO 188855 Asterisk 603083 HETEROGENEOUS NUCLEAR RIBOPROTEIN L; HNRNPL HNRPL Asterisk 603084 ASPARTYL-tRNA SYNTHETASE; DARS ASPRS Asterisk 603085 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 1; SLC31A1 COPPER TRANSPORTER 1; COPT1; CTR1 Asterisk 603086 ADP-RIBOSYLTRANSFERASE 3; ART3 Caret 603087 MOVED TO 110600 Asterisk 603088 SOLUTE CARRIER FAMILY 31 (COPPER TRANSPORTER), MEMBER 2; SLC31A2 COPPER TRANSPORTER 2; COPT2; CTR2 Asterisk 603089 BRCA1-ASSOCIATED PROTEIN 1; BAP1 Asterisk 603090 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L3; UCHL3 Asterisk 603091 UBIQUITIN-SPECIFIC PROTEASE 12; USP12 UBIQUITIN-HYDROLYZING ENZYME 1; UBH1 Asterisk 603092 DUAL-SPECIFICITY PHOSPHATASE 11; DUSP11 PHOSPHATASE THAT INTERACTS WITH RNA/RNP COMPLEX 1; PIR1;; RNA/RNP COMPLEX-INTERACTING PHOSPHATASE Asterisk 603093 BETA-3-GALACTOSYLTRANSFERASE 1; B3GALT1 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1;; BETA-3-GALT1 Asterisk 603094 BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 1; B3GALNT1 BETA-3-GalNAc-T1;; UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3; B3GALT3;; BETA-3-GALACTOSYLTRANSFERASE 3;; BETA-3-GALT3;; GLOBOSIDE SYNTHASE;; GLOB;; GB4 SYNTHASE;; P ANTIGEN SYNTHASE Asterisk 603095 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 4; B3GALT4 BETA-3-GALACTOSYLTRANSFERASE 4;; BETA-3-GALT4 Caret 603096 MOVED TO 262300 Asterisk 603097 ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 1; ATP6V1C1 ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT C; ATP6C;; VACUOLAR PROTON PUMP, 42-KD SUBUNIT;; V-ATPase, SUBUNIT C;; ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT D, FORMERLY; ATP6D, FORMERLY Percent 603098 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13 Asterisk 603099 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 1; AGPAT1 LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-ALPHA;; LPAAT-ALPHA Asterisk 603100 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2; AGPAT2 LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-BETA;; LPAAT-BETA Asterisk 603101 CARBOXYPEPTIDASE B2, PLASMA; CPB2 CARBOXYPEPTIDASE U; CPU;; THROMBIN-ACTIVATABLE FIBRINOLYSIS INHIBITOR; TAFI Asterisk 603102 CARBOXYPEPTIDASE D; CPD GLYCOPROTEIN, 180-KD; GP180 Asterisk 603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1 CARBOXYPEPTIDASE N, CATALYTIC SUBUNIT;; SERUM CARBOXYPEPTIDASE N; SCPN;; CARBOXYPEPTIDASE N, SERUM; CPN;; CARBOXYPEPTIDASE B, SERUM;; KININASE I;; ANAPHYLATOXIN INACTIVATOR Asterisk 603104 CARBOXYPEPTIDASE N, POLYPEPTIDE 2, 83-KD; CPN2 CARBOXYPEPTIDASE N, REGULATORY SUBUNIT Asterisk 603105 CARBOXYPEPTIDASE Z; CPZ Asterisk 603106 NEURONATIN; NNAT Asterisk 603107 TRANSCRIPTION FACTOR 20; TCF20 STROMELYSIN 1 PDGF-RESPONSIVE ELEMENT-BINDING PROTEIN; SPBP;; SPRE-BINDING PROTEIN; AR1 Asterisk 603108 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 1; MAPRE1 END-BINDING PROTEIN 1; EB1;; ADENOMATOUS POLYPOSIS COLI-BINDING PROTEIN EB1 Asterisk 603109 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 3; SMAD3 MADH3;; SMA- AND MAD-RELATED PROTEIN 3 Asterisk 603110 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 5; SMAD5 MADH5;; SMA- AND MAD-RELATED PROTEIN 5 Asterisk 603111 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY E, MEMBER 1; SMARCE1 BRG1-ASSOCIATED FACTOR, 57-KD; BAF57 Asterisk 603112 S100 CALCIUM-BINDING PROTEIN A12; S100A12 CALCIUM-BINDING PROTEIN IN AMNIOTIC FLUID; CAAF1;; CALGRANULIN-RELATED PROTEIN; CGRP;; CALGRANULIN C;; p6;; EXTRACELLULAR NEWLY IDENTIFIED RAGE-BINDING PROTEIN; ENRAGE Asterisk 603113 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, BETA; PPP2R1B PP2AA-BETA Asterisk 603114 S100 CALCIUM-BINDING PROTEIN A11; S100A11 CALGIZZARIN;; S100C Asterisk 603115 DEAH BOX POLYPEPTIDE 9; DHX9 DEAD/H BOX 9; DDX9;; RNA HELICASE A;; NUCLEAR DNA HELICASE II; NDHII Percent 603116 CDAGS SYNDROME CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS;; CAP SYNDROME NULL 603117 SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL Asterisk 603118 CADHERIN 16; CDH16 CADHERIN, KIDNEY;; KSP-CADHERIN NULL 603119 APRAXIA OF EYELID OPENING Asterisk 603120 QUIESCIN Q6 SULFHYDRYL OXIDASE 1; QSOX1 QUIESCIN Q6; QSCN6;; Q6 Caret 603121 MOVED TO 300768 Asterisk 603122 DEDICATOR OF CYTOKINESIS 2; DOCK2 Asterisk 603123 DEDICATOR OF CYTOKINESIS 3; DOCK3 MODIFIER OF CELL ADHESION; MOCA Asterisk 603124 UBIQUITIN-CONJUGATING ENZYME E2G 2; UBE2G2 UBC7, S. CEREVISIAE, HOMOLOG OF Asterisk 603125 TYROSYLPROTEIN SULFOTRANSFERASE 1; TPST1 Asterisk 603126 TYROSYLPROTEIN SULFOTRANSFERASE 2; TPST2 Asterisk 603127 GROWTH ARREST-SPECIFIC 7; GAS7 Asterisk 603128 SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 1; SIM1 Asterisk 603129 LIM DOMAIN ONLY 4; LMO4 Asterisk 603130 ATTRACTIN; ATRN MAHOGANY, MOUSE, HOMOLOG OF; MGCA Asterisk 603131 PEPTIDASE, MITOCHONDRIAL PROCESSING, BETA; PMPCB MITOCHONDRIAL PROCESSING PEPTIDASE-BETA; MPPB Asterisk 603132 ZINC FINGER PROTEIN 189; ZNF189 NULL 603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION Asterisk 603134 CULLIN 1; CUL1 Asterisk 603135 CULLIN 2; CUL2 Asterisk 603136 CULLIN 3; CUL3 Asterisk 603137 CULLIN 4A; CUL4A Caret 603138 MOVED TO 300304 Asterisk 603139 RAD17, S. POMBE, HOMOLOG OF; RAD17 RAD24, S. CEREVISIAE, HOMOLOG OF;; RAD24, MOUSE, HOMOLOG OF Asterisk 603140 PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, ALPHA; PIP4K2A PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE II, ALPHA; PIP5K2A;; PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, ALPHA; PI5P4KA Asterisk 603141 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN-BINDING PROTEIN 1; PPFIBP1 PTPRF-INTERACTING PROTEIN-BINDING PROTEIN 1;; LIPRIN-BETA-1 Asterisk 603142 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN-BINDING PROTEIN 2; PPFIBP2 PTPRF-INTERACTING PROTEIN-BINDING PROTEIN 2;; LIPRIN-BETA-2 Asterisk 603143 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA-2; PPFIA2 PTPRF-INTERACTING PROTEIN ALPHA-2;; LIPRIN-ALPHA-2 Asterisk 603144 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA 3; PPFIA3 PTPRF-INTERACTING PROTEIN ALPHA-3;; LIPRIN-ALPHA-3 Asterisk 603145 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA 4; PPFIA4 PTPRF-INTERACTING PROTEIN ALPHA-4;; LIPRIN-ALPHA-4 Asterisk 603146 PROTEASOME 26S SUBUNIT, NON-ATPase, 9; PSMD9 BRIDGE 1, RAT, HOMOLOG OF Number Sign 603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C CDG Ic; CDGIc;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY;; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE V, FORMERLY; CDGS5, FORMERLY Asterisk 603148 ACTIVATING TRANSCRIPTION FACTOR 3; ATF3 Asterisk 603149 INTERLEUKIN 17A; IL17A IL17;; CYTOTOXIC T-LYMPHOCYTE-ASSOCIATED SERINE ESTERASE 8; CTLA8 Asterisk 603150 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, DELTA SUBUNIT; ATP5F1D ATP5D;; MITOCHONDRIAL ATP SYNTHASE, DELTA SUBUNIT Asterisk 603151 SEPTIN 7; SEPT7 CELL DIVISION CYCLE 10; CDC10 Asterisk 603152 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT F6; ATP5J MITOCHONDRIAL ATP SYNTHASE, SUBUNIT F6;; MITOCHONDRIAL ATP SYNTHASE, COUPLING FACTOR 6;; ATP5 Asterisk 603153 RAD1, S. POMBE, HOMOLOG OF; RAD1 Asterisk 603154 PININ; PNN DRS Asterisk 603155 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 14; PTPN14 PHOSPHATASE WITH EZRIN DOMAIN; PEZ Asterisk 603156 BIPHENYL HYDROLASE-LIKE; BPHL VALACYCLOVIRASE;; MUCIN-ASSOCIATED ANTIGEN; MCNAA;; BREAST EPITHELIAL MUCIN-ASSOCIATED ANTIGEN Asterisk 603157 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 2; PIK3R2 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 85-KD, BETA;; p85-BETA PIK3R2/UPS8 FUSION GENE, INCLUDED Asterisk 603158 UBIQUITIN-SPECIFIC PROTEASE 8; USP8 DEUBIQUITINATING ENZYME HUMORF8; HUMORF8 USP8/PIK3R2 FUSION GENE, INCLUDED Asterisk 603159 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 3; LRP3 Asterisk 603160 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 6; ENTPD6 CD39-LIKE 2; CD39L2 Asterisk 603161 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 3; ENTPD3 CD39-LIKE 3; CD39L3 Asterisk 603162 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 5; ENTPD5 CD39-LIKE 4; CD39L4 Asterisk 603163 STIMULATOR OF CHONDROGENESIS 1; SCRG1 SCRAPIE-RESPONSIVE GENE 1 Asterisk 603164 PEROXISOME BIOGENESIS FACTOR 3; PEX3 PEROXIN 3 Percent 603165 DERMATITIS, ATOPIC ATOD;; ECZEMA, ATOPIC DERMATITIS, ATOPIC, 1, INCLUDED; ATOD1, INCLUDED Asterisk 603166 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 2; MAP4K2 GERMINAL CENTER KINASE; GCK;; RAB8-INTERACTING PROTEIN, FORMERLY; RAB8IP, FORMERLY Asterisk 603167 BCL2-ASSOCIATED AGONIST OF CELL DEATH; BAD BCL2 ANTAGONIST;; BCL2-BINDING PROTEIN; BCL2L8;; BCL2-BINDING COMPONENT 6 Asterisk 603168 UNC51-LIKE KINASE 1; ULK1 UNC51, C. ELEGANS, HOMOLOG OF;; UNC51.1 Asterisk 603169 CATHEPSIN Z; CTSZ Asterisk 603170 TEA DOMAIN FAMILY MEMBER 3; TEAD3 TRANSCRIPTIONAL ENHANCER FACTOR 5; TEF5;; TEA DOMAIN FAMILY MEMBER 5, FORMERLY; TEAD5, FORMERLY Asterisk 603171 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 8; NEDD8 Asterisk 603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C UBIQUITIN-ACTIVATING ENZYME 3, S. CEREVISIAE, HOMOLOG OF; UBA3 Asterisk 603173 UBIQUITIN-CONJUGATING ENZYME E2M; UBE2M UBIQUITIN-CONJUGATING ENZYME 12, S. CEREVISIAE, HOMOLOG OF; UBC12 NULL 603174 HOMOCYSTEINEMIA HYPERHOMOCYSTEINEMIA Percent 603175 SCHIZOPHRENIA 5; SCZD5 SCHIZOPHRENIA 5 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED Percent 603176 SCHIZOPHRENIA 7; SCZD7 SCHIZOPHRENIA 7 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED Asterisk 603177 VESICLE-ASSOCIATED MEMBRANE PROTEIN 8; VAMP8 ENDOBREVIN;; SYNAPTOBREVIN-LIKE, ENDOSOME-ASSOCIATED Asterisk 603178 ALDEHYDE DEHYDROGENASE 6 FAMILY, MEMBER A1; ALDH6A1 METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE; MMSDH Asterisk 603179 CARBONIC ANHYDRASE IX; CA9 CA IX;; MEMBRANE ANTIGEN MN; MN Asterisk 603180 EXPORTIN, tRNA; XPOT EXPORTIN-T Asterisk 603181 INTERLEUKIN ENHANCER-BINDING FACTOR 2; ILF2 NUCLEAR FACTOR OF ACTIVATED T CELLS, 45-KD; NF45 Asterisk 603182 INTERLEUKIN ENHANCER-BINDING FACTOR 3; ILF3 NUCLEAR FACTOR OF ACTIVATED T CELLS, 90-KD; NF90;; DOUBLE-STRANDED RNA-BINDING PROTEIN, 76-KD; DRBP76;; M-PHASE PHOSPHOPROTEIN 4; MPP4; MPHOSPH4;; NUCLEAR FACTOR ASSOCIATED WITH DOUBLE-STRANDED RNA; NFAR Asterisk 603183 RETICULON 2; RTN2 NEUROENDOCRINE-SPECIFIC PROTEIN-LIKE 1; NSPL1 Asterisk 603184 CYCLIN-DEPENDENT KINASE 8; CDK8 K35 Asterisk 603185 NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP N1/N2, XENOPUS, HOMOLOG OF Asterisk 603186 DEATH-ASSOCIATED PROTEIN 6; DAXX BING2 Asterisk 603187 CENTRIN 1; CETN1 CEN1 Percent 603188 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8; BMIQ8 OBESITY, SUSCEPTIBILITY TO Asterisk 603189 SYNTAXIN 5; STX5 STX5A;; SED5 Asterisk 603190 PROTEIN ARGININE N-METHYLTRANSFERASE 3; PRMT3 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 3; HRMT1L3;; HMT1-LIKE 3 Asterisk 603191 CILIA AND FLAGELLA-ASSOCIATED PROTEIN 410; CFAP410 CHROMOSOME 21 OPEN READING FRAME 2; C21ORF2 Asterisk 603192 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 1; ATP5G1 MITOCHONDRIAL ATP SYNTHASE, SUBUNIT C, ISOFORM 1;; MITOCHONDRIAL ATP SYNTHASE, SUBUNIT 9, ISOFORM 1 Asterisk 603193 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT C, ISOFORM 2; ATP5G2 MITOCHONDRIAL ATP SYNTHASE, SUBUNIT C, ISOFORM 2;; MITOCHONDRIAL ATP SYNTHASE, SUBUNIT 9, ISOFORM 2 Number Sign 603194 MECKEL SYNDROME, TYPE 2; MKS2 MECKEL-GRUBER SYNDROME, TYPE 2 Asterisk 603195 G PROTEIN-COUPLED RECEPTOR 32; GPR32 Asterisk 603196 COCHLIN; COCH COCH5B2;; COAGULATION FACTOR C HOMOLOGY Asterisk 603197 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6 NEUROPATHY TARGET ESTERASE; NTE;; NEUROTOXIC ESTERASE Asterisk 603198 CAVEOLAE-ASSOCIATED PROTEIN 1; CAVIN1 CAVIN;; RNA POLYMERASE I AND TRANSCRIPT RELEASE FACTOR; PTRF Asterisk 603199 PALS1-ASSOCIATED TIGHT JUNCTION PROTEIN; PATJ PATJ, CRUMBS CELL POLARITY COMPLEX COMPONENT;; INAD-LIKE; INADL;; INAD, DROSOPHILA, HOMOLOG OF Asterisk 603200 REGULATORY FACTOR X, ANKYRIN REPEAT-CONTAINING; RFXANK Asterisk 603201 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11; ABCB11 BILE SALT EXPORT PUMP; BSEP;; SISTER OF P-GLYCOPROTEIN; SPGP Asterisk 603202 LACTASE; LCT LAC;; LACTASE-PHLORIZIN HYDROLASE; LPH Asterisk 603203 CYCLIN G2; CCNG2 Percent 603204 EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2 Asterisk 603205 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 1; MORC1 MICRORCHIDIA, MOUSE, HOMOLOG OF; MORC Percent 603206 SCHIZOPHRENIA 8; SCZD8 SCHIZOPHRENIA 8 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 18-RELATED Asterisk 603207 VTI1, S. CEREVISIAE, HOMOLOG OF, B; VTI1B VTI1;; VTI1-LIKE; VTI1L Asterisk 603208 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; KCNJ13 INWARDLY RECTIFYING POTASSIUM CHANNEL Kir7.1 NULL 603209 CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE, PSEUDOGENE; CMAHP CMAH;; CMP-NeuAc HYDROXYLASE;; CMP-Neu5Ac HYDROXYLASE;; CMP-SIALIC ACID HYDROXYLASE; CSAH Asterisk 603210 JERKY, MOUSE, HOMOLOG OF; JRK JH8 Asterisk 603211 JERKY, MOUSE, HOMOLOG-LIKE; JRKL HHMJG Asterisk 603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2 BEADED FILAMENT STRUCTURAL PROTEIN, 49-KD;; CYTOSKELETAL PROTEIN, 49-KD; CP49;; CYTOSKELETAL PROTEIN, 47-KD; CP47;; PHAKININ;; PHAKOSIN Asterisk 603213 KINESIN FAMILY MEMBER 22; KIF22 KINESIN-LIKE 4; KNSL4;; KINESIN-LIKE DNA-BINDING PROTEIN; KID;; ORIGIN OF PLASMID DNA REPLICATION-BINDING PROTEIN; OBP;; ORIP-BINDING PROTEIN Asterisk 603214 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4 PEROXISOMAL MEMBRANE PROTEIN 1-LIKE; PXMP1L;; P70R;; PMP69 Asterisk 603215 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, ALPHA; NAPA SOLUBLE NSF-ATTACHMENT PROTEIN, ALPHA; SNAPA;; SNAP, ALPHA Asterisk 603216 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, GAMMA; NAPG SOLUBLE NSF-ATTACHMENT PROTEIN, GAMMA;; SNAP, GAMMA Asterisk 603217 SYNTAXIN 7; STX7 Number Sign 603218 HUNTINGTON DISEASE-LIKE 1; HDL1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1; HLN1;; HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT;; PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES Asterisk 603219 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 2; KCNK2 TWIK-RELATED K+ CHANNEL; TREK;; TREK1 Asterisk 603220 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 3; KCNK3 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL; TASK;; TASK1 Percent 603221 MYOPIA 3, AUTOSOMAL DOMINANT; MYP3 Asterisk 603222 U22 HOST GENE U22HG;; UHG Asterisk 603223 RNA, U22 SMALL NUCLEOLAR; RNU22 snoRNA, U22;; RNA Y Asterisk 603224 RNA, U25 SMALL NUCLEOLAR; RNU25 snoRNA, U25 Asterisk 603225 RNA, U26 SMALL NUCLEOLAR; RNU26 snoRNA, U26 Asterisk 603226 RNA, U27 SMALL NUCLEOLAR; RNU27 snoRNA, U27 Asterisk 603227 RNA, U28 SMALL NUCLEOLAR; RNU28 snoRNA, U28 Asterisk 603228 RNA, U29 SMALL NUCLEOLAR; RNU29 snoRNA, U29 Asterisk 603229 RNA, U30 SMALL NUCLEOLAR; RNU30 snoRNA, U30 Asterisk 603230 RNA, U31 SMALL NUCLEOLAR; RNU31 snoRNA, U31 Asterisk 603231 ZINC FINGER PROTEIN 200; ZNF200 Asterisk 603232 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY F, MEMBER 1; OR1F1 OLFMF Number Sign 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B PHP IB Asterisk 603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6 ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA;; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6; MRP6 Asterisk 603235 SELENOPROTEIN W; SELENOW SELW;; SELENOPROTEIN W, 1; SEPW1 Asterisk 603236 MEVALONATE PYROPHOSPHATE DECARBOXYLASE; MVD MPD Asterisk 603237 ERYTHROCYTE MEMBRANE PROTEIN 4.1-LIKE 2; EPB41L2 NONERYTHROID PROTEIN 4.1, GENERAL TYPE; 4.1G Asterisk 603238 RNA, U17D SMALL NUCLEOLAR; RNU17D snoRNA, U17D U17 HOST GENE, INCLUDED; U17HG, INCLUDED Asterisk 603239 SMALL NUCLEOLAR RNA, H/ACA BOX, 73B; SNORA73B RNA, U17B SMALL NUCLEOLAR; RNU17B;; snoRNA, U17B Asterisk 603240 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 18, ANTISENSE; SLC22A18AS SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 1-LIKE-ANTISENSE; SLC22A1LS;; ORGANIC-CATION TRANSPORTER-LIKE 2-ANTISENSE; ORCTL2S;; ORCTL2-ANTISENSE;; BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION 1, CANDIDATE B; BWSCR1B;; BECKWITH-WIEDEMANN REGION 1B; BWR1B Asterisk 603241 LIMBIC SYSTEM-ASSOCIATED MEMBRANE PROTEIN; LSAMP LAMP;; IGLON3 Asterisk 603242 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER B; CLEC2B LECTIN, C-TYPE, SUPERFAMILY MEMBER 2; CLECSF2;; ACTIVATION-INDUCED C-TYPE LECTIN; AICL;; LECTIN, C-TYPE, ACTIVATION-INDUCED Asterisk 603243 AUTOCRINE MOTILITY FACTOR RECEPTOR; AMFR GP78 Asterisk 603244 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 1; HS3ST1 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 1;; 3OST;; 3OST1 Asterisk 603245 NK2 HOMEOBOX 8; NKX2-8 NK2, DROSOPHILA, HOMOLOG OF, 8; NKX2.8;; NK2, DROSOPHILA, HOMOLOG OF, H; NKX2H;; NKX2-9, MOUSE, HOMOLOG OF Asterisk 603246 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 1; GTF3C1 TRANSCRIPTION FACTOR IIIC, ALPHA SUBUNIT;; TFIIIC-ALPHA;; TF3C-ALPHA;; TFIIIC, 220-KD SUBUNIT Asterisk 603247 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 2; SLC27A2 FATTY ACID TRANSPORT PROTEIN 2; FATP2;; FATTY ACID CoA LIGASE, VERY LONG CHAIN 1; FACVL1;; VERY LONG CHAIN ACYL-CoA SYNTHETASE; VLACS; VLCS;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 1; ACSVL1 Asterisk 603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B ACTIVIN RECEPTOR-LIKE KINASE 6; ALK6 Asterisk 603249 NIPSNAP, C. ELEGANS, HOMOLOG OF, 1; NIPSNAP1 4-NITROPHENYLPHOSPHATASE DOMAIN AND NONNEURONAL SNAP25-LIKE 1 Asterisk 603250 FORKHEAD BOX F2; FOXF2 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 6; FKHL6;; FORKHEAD-RELATED ACTIVATOR 2; FREAC2 Asterisk 603251 CYCLIN-DEPENDENT KINASE 9; CDK9 PITALRE;; CTK1, YEAST, HOMOLOG OF; CTK1 Asterisk 603252 FORKHEAD BOX L1; FOXL1 FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 11; FKHL11;; FORKHEAD-RELATED ACTIVATOR 7; FREAC7;; FKH6 Asterisk 603253 CYSTATIN 7; CST7 CYSTATIN F; CF;; CYSTATIN-LIKE METASTASIS-ASSOCIATED PROTEIN; CMAP;; LEUKOCYSTATIN Asterisk 603254 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; SMARCA4 BRM/SWI2-RELATED GENE 1; BRG1;; SNF2-BETA Asterisk 603255 NUCLEAR TRANSCRIPTION FACTOR, X BOX-BINDING, 1; NFX1 Asterisk 603256 LEUCINE-RICH REPEAT IN FLII-INTERACTING PROTEIN 1; LRRFIP1 TRANSCRIPTION FACTOR 9-LIKE;; GC-BINDING FACTOR 2; GCF2;; TAR RNA-INTERACTING PROTEIN; TRIP;; FLII LRR-ASSOCIATED PROTEIN 1; FLAP1 Asterisk 603257 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 3; SMARCA3 HELICASE-LIKE TRANSCRIPTION FACTOR; HLTF;; HIP116;; SUCROSE NONFERMENTING, YEAST, HOMOLOG-LIKE 3; SNF2L3;; SNF2-LIKE 3 Asterisk 603258 INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, KINASE OF, BETA; IKBKB NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, KINASE OF, BETA; NFKBIKB;; I-KAPPA-B KINASE-BETA;; IKK-BETA; IKKB;; I-KAPPA-B KINASE 2; IKK2 Caret 603259 MOVED TO 191195 Asterisk 603260 BarH-LIKE HOMEOBOX GENE 1; BARX1 Asterisk 603261 PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, BETA; PIP4K2B PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, BETA; PI5P4KB;; PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE II, BETA; PIP5K2B Asterisk 603262 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE SYNTHASE 1; PAPSS1 PHOSPHOADENOSINE-PHOSPHOSULFATE SYNTHETASE 1;; PAPS SYNTHASE 1;; PAPS SYNTHETASE 1;; ATP SULFURYLASE/ADENOSINE 5-PRIME PHOSPHOSULFATE KINASE 1; ATPSK1;; ATP SULFURYLASE/APS KINASE 1;; SK1 Asterisk 603263 CARBONIC ANHYDRASE XII; CA12 CA XII Asterisk 603264 RHOMBOID-LIKE 1; RHBDL1 RHBDL;; DROSOPHILA RHOMBOID-LIKE;; RHOMBOID-RELATED PROTEIN; RRP Asterisk 603265 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 3A; ARID3A ARID-CONTAINING PROTEIN 3A;; DEAD RINGER, DROSOPHILA, HOMOLOG-LIKE 1; DRIL1 Percent 603266 DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17 INSULIN-DEPENDENT DIABETES MELLITUS 17 Asterisk 603267 SMALL OPTIC LOBES, DROSOPHILA, HOMOLOG OF; SOLH Asterisk 603268 N-DEACETYLASE/N-SULFOTRANSFERASE 2; NDST2 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 2;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE 2;; HEPARAN N-SULFOTRANSFERASE 2 Asterisk 603269 SPLICING FACTOR, SERINE/ARGININE-RICH, 8; SRSF8 SERINE/ARGININE-RICH SPLICING FACTOR 8;; SPLICING FACTOR, ARGININE/SERINE-RICH, 2B; SFRS2B;; SPLICING FACTOR, ARGININE/SERINE-RICH, 46-KD; SRp46 Asterisk 603270 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL FO COMPLEX, SUBUNIT B, ISOFORM 1; ATP5F1 Asterisk 603271 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 21; PTPN21 PROTEIN-TYROSINE PHOSPHATASE D1; PTPD1 Asterisk 603272 CONNECTOR ENHANCER OF KINASE SUPPRESSOR OF RAS 1; CNKSR1 CONNECTOR ENHANCER OF KSR 1;; CNK, DROSOPHILA, HOMOLOG OF;; CNK1 Asterisk 603273 TUMOR PROTEIN p63; TP63 TUMOR PROTEIN p73-LIKE; TP73L;; p53-RELATED PROTEIN p63; p63;; KET Caret 603274 MOVED TO 602961 Asterisk 603275 PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, ALPHA; PIP5K1A Asterisk 603276 REGULATOR OF G PROTEIN SIGNALING 5; RGS5 Asterisk 603277 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 4; CHD4 Mi2-BETA Number Sign 603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1 Asterisk 603279 EXPANDED REPEAT DOMAIN, CAG/CTG, 1; ERDA1 Caret 603280 MOVED TO 157640 Asterisk 603281 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE-LIKE; OASL THYROID HORMONE RECEPTOR INTERACTOR 14; TRIP14;; p59OASL NULL 603282 ZINC FINGER PROTEIN 204; ZNF204 ZINC FINGER PROTEIN 204 PSEUDOGENE, INCLUDED;; ZNF204 PSEUDOGENE, INCLUDED Asterisk 603283 TRIADIN; TRDN TRISK Number Sign 603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2 Number Sign 603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3 Asterisk 603286 KISS1 METASTASIS SUPPRESSOR; KISS1 METASTIN;; KISSPEPTIN Asterisk 603287 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE; PNPO PYRIDOXAMINE-PHOSPHATE OXIDASE Asterisk 603288 KERATOCAN; KERA Asterisk 603289 DEATH-ASSOCIATED PROTEIN KINASE 3; DAPK3 ZIP KINASE; ZIPK Asterisk 603290 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 2; SHANK2 CORTACTIN-BINDING PROTEIN 1; CORTBP1 Asterisk 603291 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 1; BNIP1 NIP1 Asterisk 603292 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2; BNIP2 NIP2 Asterisk 603293 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3; BNIP3 NIP3 Asterisk 603294 MINICHROMOSOME MAINTENANCE 3-ASSOCIATED PROTEIN; MCM3AP MCM3-ASSOCIATED PROTEIN, 80-KD; MAP80;; GERMINAL CENTER-ASSOCIATED NUCLEAR PROTEIN; GANP Asterisk 603295 MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 9; SMAD9 MADH9;; SMA- AND MAD-RELATED PROTEIN 9;; SMAD8;; MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF, 6, FORMERLY; MADH6, FORMERLY Asterisk 603296 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 3; LAMTOR3 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 3;; MEK PARTNER 1; MP1;; MAPBP;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1-INTERACTING PROTEIN 1, FORMERLY; MAP2K1IP1, FORMERLY Asterisk 603297 DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DYNC2H1 DNCH2; DHC2;; DYNEIN HEAVY CHAIN, ISOTYPE 1B; DHC1B Asterisk 603298 PALMITOYL-PROTEIN THIOESTERASE 2; PPT2 G14 Caret 603299 MOVED TO 603339 Asterisk 603300 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 2; TNFAIP2 EXOCYST COMPLEX COMPONENT 3-LIKE 3; EXOC3L3 Asterisk 603301 KRUPPEL-LIKE FACTOR 11; KLF11 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 2; TIEG2;; TGFB-INDUCIBLE EARLY GROWTH RESPONSE 2;; KRUPPEL-LIKE TRANSCRIPTION FACTOR 1; FKLF1; FKLF Asterisk 603302 ADENYLATE CYCLASE 9; ADCY9 ADENYLYL CYCLASE 9 Asterisk 603303 TRF1-INTERACTING, ANKYRIN-RELATED ADP-RIBOSE POLYMERASE; TNKS TANKYRASE 1 Asterisk 603304 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 2; IRAK2 Asterisk 603305 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 1; KCNH1 Kv10.1;; ETHER-A-GO-GO, DROSOPHILA, HOMOLOG OF; EAG Asterisk 603306 TRANSCRIPTION FACTOR 21; TCF21 EPICARDIN;; PODOCYTE-EXPRESSED 1; POD1;; CAPSULIN Asterisk 603307 BEADED FILAMENT STRUCTURAL PROTEIN 1; BFSP1 CYTOSKELETAL PROTEIN, 115-KD; CP115;; FILENSIN Asterisk 603308 CATHEPSIN L2; CTSL2 CATHEPSIN V; CTSV Asterisk 603309 CYCLIN-DEPENDENT KINASE 13; CDK13 CELL DIVISION CYCLE 2-LIKE 5; CDC2L5;; CELL DIVISION CONTROLLER, CHOLINESTERASE-RELATED; CHED Asterisk 603310 PHOSPHODIESTERASE 5A; PDE5A Asterisk 603311 CELL DIVISION CYCLE 7, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC7L1 CDC7 Asterisk 603312 BUTYROBETAINE-GAMMA,2-OXOGLUTARATE DIOXYGENASE 1; BBOX1 GAMMA-BUTYROBETAINE HYDROXYLASE; GAMMA-BBH Asterisk 603313 ALG10, S. CEREVISIAE, HOMOLOG OF, B; ALG10B ALG10, S. CEREVISIAE, HOMOLOG OF; ALG10;; POTASSIUM CHANNEL REGULATOR 1; KCR1 Asterisk 603314 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 5; SLC27A5 FATTY ACID TRANSPORT PROTEIN 5; FATP5;; VERY LONG CHAIN ACYL-CoA SYNTHETASE-RELATED PROTEIN; VLACSR;; VLCS HOMOLOG 2; VLCSH2;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 6; ACSVL6 Asterisk 603315 FREQUENIN, DROSOPHILA, HOMOLOG OF; FREQ NEURONAL CALCIUM SENSOR 1; NCS1 Asterisk 603316 CYTIDINE 5-PRIME-MONOPHOSPHATE N-ACETYLNEURAMINIC ACID SYNTHETASE; CMAS CMP-Neu5Ac SYNTHETASE Asterisk 603317 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EXPRESSED BY GLOMERULAR MESANGIAL CELLS 1; PTPGMC1 Caret 603318 MOVED TO 603345 Asterisk 603319 ANNEXIN A9; ANXA9 ANNEXIN 31, FORMERLY; ANX31, FORMERLY Asterisk 603320 MATRIX METALLOPROTEINASE 23A; MMP23A MATRIX METALLOPROTEINASE 21, FORMERLY; MMP21, FORMERLY Asterisk 603321 MATRIX METALLOPROTEINASE 23B; MMP23B MATRIX METALLOPROTEINASE 22, FORMERLY; MMP22, FORMERLY Asterisk 603322 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 6; NDUFB6 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, B17 SUBUNIT; B17 NULL 603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY Plus 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3 GAP JUNCTION PROTEIN, 31-KD;; CONNEXIN 31; CX31 DEAFNESS, AUTOSOMAL RECESSIVE, INCLUDED;; DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY, INCLUDED Asterisk 603325 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9B; PPP1R9B PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9; PPP1R9;; SPINOPHILIN; SPINO;; NEURABIN II Asterisk 603326 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3D; PPP1R3D PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 6; PPP1R6 Asterisk 603327 RAN-BINDING PROTEIN 3; RANBP3 Asterisk 603328 MUSASHI, DROSOPHILA, HOMOLOG OF, 1; MSI1 Caret 603329 MOVED TO 300931 Asterisk 603330 DYNEIN, AXONEMAL, HEAVY CHAIN 9; DNAH9 DYNEIN, AXONEMAL, HEAVY CHAIN 17-LIKE; DNAH17L;; DYNEIN, AXONEMAL, LIGHT INTERMEDIATE CHAIN 1; DNEL1;; HL20 Asterisk 603331 DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 2; DYNC1I2 DNCI2;; IC2 Asterisk 603332 DYNEIN, AXONEMAL, HEAVY CHAIN 1; DNAH1 HL11;; DNAHC1;; HDHC7 Asterisk 603333 DYNEIN, AXONEMAL, HEAVY CHAIN 2; DNAH2 DNAHC2 Asterisk 603334 DYNEIN, AXONEMAL, HEAVY CHAIN 3; DNAH3 DNAHC3B Asterisk 603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5 HL1 Asterisk 603336 DYNEIN, AXONEMAL, HEAVY CHAIN 6; DNAH6 HL2;; KIAA1697 Asterisk 603337 DYNEIN, AXONEMAL, HEAVY CHAIN 8; DNAH8 HDHC9 Caret 603338 MOVED TO 603330 Asterisk 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11 DNAHC11;; DPL11;; DYNEIN, HEAVY CHAIN BETA-LIKE; DNAHBL Asterisk 603340 DYNEIN, AXONEMAL, HEAVY CHAIN 12; DNAH12 DNAHC3;; HL19;; HDHC3;; DHC3 Asterisk 603341 DYNEIN, AXONEMAL, HEAVY CHAIN 14; DNAH14 HL18 Percent 603342 SCHIZOPHRENIA 2; SCZD2 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED Asterisk 603343 RNA EXPORT 1, S. POMBE, HOMOLOG OF; RAE1 mRNA-BINDING PROTEIN, 41-KD; MRNP41 Asterisk 603344 USO1 VESICLE DOCKING PROTEIN, S. CEREVISIAE, HOMOLOG OF; USO1 VESICLE DOCKING PROTEIN, 115-KD; p115;; TRANSCYTOSIS-ASSOCIATED PROTEIN; TAP;; TAP/p115 Asterisk 603345 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 4; SLC4A4 SODIUM BICARBONATE COTRANSPORTER 1; NBC1;; SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 5, FORMERLY; SLC4A5, FORMERLY SODIUM BICARBONATE COTRANSPORTER, KIDNEY, INCLUDED; KNBC, INCLUDED; KNBC1, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER, PANCREAS, INCLUDED; PNBC, INCLUDED; PNBC1, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER, HEART, INCLUDED; HHNBC, INCLUDED; HHNBC1, INCLUDED Asterisk 603346 NEURONAL PAS DOMAIN PROTEIN 1; NPAS1 MEMBER OF PAS SUPERFAMILY 5; MOP5 Asterisk 603347 NEURONAL PAS DOMAIN PROTEIN 2; NPAS2 MEMBER OF PAS SUPERFAMILY 4; MOP4 Asterisk 603348 HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; HIF1A HIF1-ALPHA;; MEMBER OF PAS SUPERFAMILY 1; MOP1 Asterisk 603349 ENDOTHELIAL PAS DOMAIN PROTEIN 1; EPAS1 MEMBER OF PAS SUPERFAMILY 2; MOP2;; HYPOXIA-INDUCIBLE FACTOR 2, ALPHA SUBUNIT;; HIF2-ALPHA; HIF2A Asterisk 603350 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 2; OAS2 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE, 69-KD;; p69 Asterisk 603351 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE 3; OAS3 2-PRIME,5-PRIME-OLIGOADENYLATE SYNTHETASE, 100-KD;; p100 Asterisk 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5 APOPTOSIS INHIBITOR 4; API4;; SURVIVIN Asterisk 603353 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 7; SLC4A7 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 6, FORMERLY; SLC4A6, FORMERLY SODIUM BICARBONATE COTRANSPORTER 2, INCLUDED; NBC2, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER 3, INCLUDED; NBC3, INCLUDED;; SODIUM BICARBONATE COTRANSPORTER 3, MUSCLE, INCLUDED; MNBC3, INCLUDED Asterisk 603354 GASTRULATION BRAIN HOMEOBOX 1; GBX1 Asterisk 603355 MEMBRANE-BOUND TRANSCRIPTION FACTOR PROTEASE, SITE 1; MBTPS1 SITE-1 PROTEASE; S1P Asterisk 603356 CD164 ANTIGEN; CD164 SIALOMUCIN CD164;; ENDOLYN Asterisk 603357 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 7; SERPINB7 MESANGIUM-PREDOMINANT GENE; MEGSIN Number Sign 603358 GRACILE SYNDROME GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH;; FINNISH LETHAL NEONATAL METABOLIC SYNDROME; FLNMS;; LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS;; FELLMAN SYNDROME Asterisk 603359 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 8; NDUFA8 Asterisk 603360 PEROXISOME BIOGENESIS FACTOR 16; PEX16 PEROXIN 16 Asterisk 603361 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6B; TNFRSF6B DECOY RECEPTOR 3; DCR3;; TR6 Asterisk 603362 SH3 DOMAIN, GRB2-LIKE, 3; SH3GL3 SH3p13;; ENDOPHILIN A3 Asterisk 603363 CGG-BINDING PROTEIN 1; CGGBP1 CGG-BINDING PROTEIN, 20-KD;; p20CGGBP Asterisk 603364 SPLICING FACTOR, SERINE/ARGININE-RICH, 3; SRSF3 SERINE/ARGININE-RICH SPLICING FACTOR 3;; SPLICING FACTOR, ARGININE/SERINE-RICH, 3; SFRS3;; SPLICING FACTOR, ARGININE/SERINE-RICH, 20-KD; SRp20 Asterisk 603365 HIRA-INTERACTING PROTEIN 3; HIRIP3 Asterisk 603366 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 25; TNFRSF25 TNFR25;; APO3;; DEATH RECEPTOR 3; DR3;; LYMPHOCYTE-ASSOCIATED RECEPTOR OF DEATH; LARD;; TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12, FORMERLY; TNFRSF12, FORMERLY Caret 603367 MOVED TO 300255 Asterisk 603368 CYCLIN-DEPENDENT KINASE 6; CDK6 PLSTIRE CDK6/MLL FUSION GENE, INCLUDED Asterisk 603369 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C p18(INK4C) Asterisk 603370 UDP-GLUCOSE DEHYDROGENASE; UGDH UDPGDH Asterisk 603371 GLE1, RNA EXPORT MEDIATOR; GLE1 GLE1, S. CEREVISIAE, HOMOLOG OF;; GLE1-LIKE PROTEIN; GLE1L Plus 603372 THYROID-STIMULATING HORMONE RECEPTOR; TSHR THYROTROPIN RECEPTOR;; LGR3 THYROID ADENOMA, HYPERFUNCTIONING, INCLUDED;; THYROID CARCINOMA WITH THYROTOXICOSIS, INCLUDED Number Sign 603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL Caret 603374 MOVED TO 300186 Asterisk 603375 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 5; SMARCA5 SUCROSE NONFERMENTING, YEAST, HOMOLOG OF; SNF2H;; WCRF135 NULL 603376 LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF Asterisk 603377 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 5; SLC22A5 ORGANIC CATION TRANSPORTER 2; OCTN2 Asterisk 603378 SIN3-ASSOCIATED POLYPEPTIDE, 30-KD; SAP30 Asterisk 603379 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 1; IQGAP1 RASGAP-LIKE WITH IQ MOTIFS;; p195;; SAR1, S. POMBE, HOMOLOG OF; SAR1;; HUMORFA01 Asterisk 603380 LIN7, C. ELEGANS, HOMOLOG OF, A; LIN7A VERTEBRATE LIN7 HOMOLOG 1; VELI1;; MAMMALIAN LIN7 HOMOLOG 1; MALS1 Asterisk 603381 FILAMIN B; FLNB FILAMIN, BETA;; ACTIN-BINDING PROTEIN 276/278; ABP276/278 TRUNCATED ACTIN-BINDING PROTEIN, INCLUDED; TABP, INCLUDED;; ACTIN-BINDING PROTEIN, TRUNCATED, INCLUDED;; FILAMIN HOMOLOG 1, INCLUDED; FH1, INCLUDED Asterisk 603382 MutS, E. COLI, HOMOLOG OF, 5; MSH5 Number Sign 603383 GLAUCOMA 1, OPEN ANGLE, F; GLC1F GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET Asterisk 603384 SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1 GTPase-ACTIVATING PROTEIN, RAS, SYNAPTIC, 135-KD, RAT, HOMOLOG OF;; RAS-GTPase-ACTIVATING PROTEIN, SYNAPTIC, 135-KD, RAT, HOMOLOG OF;; SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN, 135-KD, RAT, HOMOLOG OF;; SYNGAP, p135, RAT, HOMOLOG OF; SYNGAP Asterisk 603385 NEDD8-ACTIVATING ENZYME E1, SUBUNIT 1; NAE1 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 1; APPBP1 Percent 603386 THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA TCO;; TCO1 Number Sign 603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME; MPPH;; MEG-PMG-MEGACC SYNDROME;; MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT Percent 603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2 GRD2 NULL 603389 OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME Asterisk 603390 PHOSPHODIESTERASE 8B; PDE8B Caret 603391 MOVED TO 139210 Asterisk 603392 BCL2-INTERACTING KILLER; BIK NBK NULL 603393 OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS NULL 603394 MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS Asterisk 603395 SPERM-ASSOCIATED ANTIGEN 1; SPAG1 NULL 603396 TONOKI SYNDROME Asterisk 603397 ZINC FINGER PROTEIN 282; ZNF282 HTLV-1 U5 REPRESSIVE ELEMENT-BINDING PROTEIN 1; HUB1 Asterisk 603398 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 1; WISP1 Asterisk 603399 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 2; WISP2 CCN FAMILY, MEMBER 5; CCN5 Asterisk 603400 WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3; WISP3 Asterisk 603401 ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1 ADAPTIN, BETA-3A; ADTB3A;; HPS2 GENE; HPS2;; PEARL, MOUSE, HOMOLOG OF; PE Asterisk 603402 ACYL-CoA OXIDASE 3, PRISTANOYL; ACOX3 ACYL-CoA OXIDASE, PRISTANOYL, PEROXISOMAL;; PRISTANOYL-CoA OXIDASE Asterisk 603403 DEAH BOX POLYPEPTIDE 15; DHX15 DEAD/H BOX 15; DDX15;; DEAH BOX PROTEIN 1; DBP1;; PRP43, S. CEREVISIAE, HOMOLOG OF;; RNA HELICASE 2; HRH2 Asterisk 603404 ZINC FINGER PROTEIN 169; ZNF169 Asterisk 603405 DEAH BOX POLYPEPTIDE 16; DHX16 DEAD/H BOX 16; DDX16;; DEAH-BOX PROTEIN 2; DBP2;; PRP8, S. POMBE, HOMOLOG OF;; MISSION IMPOSSIBLE, ZEBRAFISH, HOMOLOG OF; MIS;; KIAA0577 Asterisk 603406 TRIPARTITE MOTIF-CONTAINING PROTEIN 24; TRIM24 TRANSCRIPTIONAL INTERMEDIARY FACTOR 1; TIF1;; TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-ALPHA; TIF1A PTC6 CHIMERIC ONCOGENE, INCLUDED Asterisk 603407 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 4; PABPC4 POLYADENYLATE-BINDING PROTEIN 4; PABP4;; POLY(A)-BINDING PROTEIN 4;; POLYADENYLATE-BINDING PROTEIN, INDUCIBLE; IPABP;; ACTIVATED-PLATELET PROTEIN 1; APP1 Asterisk 603408 FRIZZLED, DROSOPHILA, HOMOLOG OF, 1; FZD1 FZ1 Asterisk 603409 FRIZZLED, DROSOPHILA, HOMOLOG OF, 6; FZD6 Asterisk 603410 FRIZZLED, DROSOPHILA, HOMOLOG OF, 7; FZD7 FZE3 Asterisk 603411 EFFECTOR CELL PROTEASE RECEPTOR 1; EPR1 Asterisk 603412 CDC42-BINDING PROTEIN KINASE, ALPHA; CDC42BPA CDC42BP-ALPHA;; PROTEIN KINASE, SERINE/THREONINE, RELATED TO THE MYOTONIC DYSTROPHY PROTEIN KINASE;; PK428;; MYOTONIC DYSTROPHY KINASE-RELATED CDC42-BINDING KINASE, ALPHA; MRCKA;; MRCK-ALPHA Asterisk 603413 TIA1 CYTOTOXIC GRANULE-ASSOCIATED RNA-BINDING PROTEIN-LIKE 1; TIAL1 TIA1-RELATED PROTEIN; TIAR;; T CLUSTER-BINDING PROTEIN; TCBP Asterisk 603414 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 2; TM7SF2 ANG1 Asterisk 603415 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT; SCN9A NAV1.7;; NEUROENDOCRINE SODIUM CHANNEL; NENA;; PERIPHERAL SODIUM CHANNEL 1; PN1 NULL 603416 RIBOSOMAL PROTEIN L21 PSEUDOGENE 1; RPL21P1 Asterisk 603417 RAB-INTERACTING FACTOR; RABIF RAS-SPECIFIC GUANINE-RELEASING FACTOR 3; RASGRF3;; MAMMALIAN SUPPRESSOR OF SEC4; MSS4 Asterisk 603418 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A2; AKR7A2 ALDO-KETO REDUCTASE 7; AKR7;; AFLATOXIN B1-ALDEHYDE REDUCTASE; AFAR Asterisk 603419 SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN, ALPHA; SGTA SMALL GLUTAMINE-RICH TETRATRICOPEPTIDE REPEAT-CONTAINING PROTEIN; SGT Asterisk 603420 CALUMENIN; CALU Asterisk 603421 TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS 1; TMEFF1 CHROMOSOME 9 OPEN READING FRAME 2; C9ORF2 Asterisk 603422 PDZ AND LIM DOMAIN PROTEIN 4; PDLIM4 LIM DOMAIN PROTEIN RIL Asterisk 603423 PR DOMAIN-CONTAINING PROTEIN 1; PRDM1 B LYMPHOCYTE-INDUCED MATURATION PROTEIN 1; BLIMP1;; POSITIVE REGULATORY DOMAIN I-BINDING FACTOR 1; PRDIBF1 Asterisk 603424 PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT ACTIVATOR; PRKRA PROTEIN ACTIVATOR OF INTERFERON-INDUCED PROTEIN KINASE; PACT;; PKR PROTEIN ACTIVATOR;; RAX Asterisk 603425 ADP-RIBOSYLATION FACTOR-LIKE 1; ARL1 Asterisk 603426 PERIOD, DROSOPHILA, HOMOLOG OF, 2; PER2 Asterisk 603427 PERIOD, DROSOPHILA, HOMOLOG OF, 3; PER3 Asterisk 603428 ZINC FINGER PROTEIN 207; ZNF207 Asterisk 603429 ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 1; ABCF1 ATP-BINDING CASSETTE 50; ABC50 Asterisk 603430 ZINC FINGER PROTEIN 202; ZNF202 Asterisk 603431 EUKARYOTIC TRANSLATION INITIATION FACTOR 4H; EIF4H WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 1; WBSCR1;; WSCR1 Asterisk 603432 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 2; CLIP2 CYTOPLASMIC LINKER 2; CYLN2;; WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 4; WBSCR4; WSCR4;; CYTOPLASMIC LINKER PROTEIN 115; CLIP115 Asterisk 603433 ZINC FINGER PROTEIN 143; ZNF143 SPH-BINDING FACTOR; SBF Asterisk 603434 PHOSPHOPROTEIN ENRICHED IN ASTROCYTES, 15-KD; PEA15 PHOSPHOPROTEIN ENRICHED IN DIABETES; PED;; MAMMARY TRANSFORMING GENE 1, MOUSE, HOMOLOG OF; HMAT1;; MAT1, MOUSE, HOMOLOG OF Asterisk 603435 GLUTATHIONE PEROXIDASE 5; GPX5 GLUTATHIONE PEROXIDASE, EPIDIDYMAL Asterisk 603436 ZINC FINGER PROTEIN 205; ZNF205 ZINC FINGER PROTEIN 210; ZNF210 Asterisk 603437 COLD-SHOCK DOMAIN PROTEIN A; CSDA DNA-BINDING PROTEIN A; DBPA NULL 603438 RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION TSUKAHARA SYNDROME;; GIUFFRE-TSUKAHARA SYNDROME NULL 603439 EXPANSILE BONE LESIONS Asterisk 603440 CYCLIN-DEPENDENT KINASE 17; CDK17 PCTAIRE PROTEIN KINASE 2; PCTK2;; PCTAIRE2 Asterisk 603441 CYCLIN-DEPENDENT KINASE-LIKE 1; CDKL1 KKIALRE;; p42 Asterisk 603442 CYCLIN-DEPENDENT KINASE-LIKE 2; CDKL2 KKIAMRE;; p56 Asterisk 603443 VACUOLAR PROTEIN SORTING 52, S. CEREVISIAE, HOMOLOG OF; VPS52 SUPPRESSOR OF ACTIN MUTATIONS 2, S. CEREVISIAE, HOMOLOG-LIKE; SACM2L Asterisk 603444 FAR UPSTREAM ELEMENT-BINDING PROTEIN 1; FUBP1 FAR UPSTREAM ELEMENT-BINDING PROTEIN; FUBP;; FUSE-BINDING PROTEIN; FBP Asterisk 603445 KH-TYPE SPLICING REGULATORY PROTEIN; KHSRP KSRP;; FAR UPSTREAM ELEMENT-BINDING PROTEIN 2; FUBP2;; FUSE-BINDING PROTEIN 2; FBP2 NULL 603446 OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE Asterisk 603447 HARAKIRI; HRK BCL2-INTERACTING PROTEIN;; DP5 Asterisk 603448 DISABLED, DROSOPHILA, HOMOLOG OF, 1; DAB1 Asterisk 603449 RUVB, E. COLI, HOMOLOG-LIKE 1; RUVBL1 NUCLEAR MATRIX PROTEIN 238; NMP238;; TATA BOX-BINDING PROTEIN-INTERACTING PROTEIN, 49-KD; TIP49;; TBP-INTERACTING PROTEIN, 49-KD;; PONTIN 52;; PONTIN;; ERYTHROCYTE CYTOSOLIC PROTEIN, 54-KD; ECP54 Asterisk 603450 LIM DOMAIN-BINDING 2; LDB2 CARBOXYL-TERMINAL LIM DOMAIN PROTEIN 1; CLIM1 Asterisk 603451 LIM DOMAIN-BINDING 1; LDB1 CARBOXYL-TERMINAL LIM DOMAIN PROTEIN 2; CLIM2;; NUCLEAR LIM DOMAIN INTERACTOR; NLI Caret 603452 MOVED TO 602712 Asterisk 603453 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 1; RIPK1 RECEPTOR-INTERACTING PROTEIN; RIP;; RIP1 Asterisk 603454 CASP2 AND RIPK1 DOMAIN-CONTAINING ADAPTOR WITH DEATH DOMAIN; CRADD CASPASE AND RIP ADAPTOR WITH DEATH DOMAIN;; RIP-ASSOCIATED ICH1/CED3-HOMOLOGOUS PROTEIN WITH DEATH DOMAIN; RAIDD Asterisk 603455 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 2; RIPK2 CARD-CONTAINING ICE-ASSOCIATED KINASE; CARDIAK;; RECEPTOR-INTERACTING PROTEIN 2; RIP2;; RIP-LIKE INTERACTING CLARP KINASE; RICK Asterisk 603456 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 2; DPH2 DPH2, S. CEREVISIAE, HOMOLOG OF;; DPH2-LIKE 2; DPH2L2 Number Sign 603457 BOSMA ARHINIA MICROPHTHALMIA SYNDROME; BAMS ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM Asterisk 603458 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 3; ELAVL3 HU-ANTIGEN C; HUC;; PARANEOPLASTIC LIMBIC ENCEPHALITIS ANTIGEN 21; PLE21 Caret 603459 MOVED TO 160980 Asterisk 603460 CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 1; CDK5R1 NEURONAL CDK5 ACTIVATOR; NCK5A;; CYCLIN-DEPENDENT KINASE 5, REGULATORY PARTNER, 35-KD; p35(NCK5A);; p35 p25, INCLUDED Asterisk 603461 CELL DIVISION CYCLE 16, S. CEREVISIAE, HOMOLOG OF; CDC16 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 6; APC6 Asterisk 603462 CELL DIVISION CYCLE 23; CDC23 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 8; APC8;; ANAPC8 Caret 603463 MOVED TO 211380 Asterisk 603464 CYCLIN-DEPENDENT KINASE 10; CDK10 PISSLRE Asterisk 603465 CELL DIVISION CYCLE 45; CDC45 CDC45, S. CEREVISIAE, HOMOLOG OF;; CDC45-LIKE; CDC45L;; CDC45L2 Asterisk 603466 EMBRYONIC LETHAL, ABNORMAL VISION, DROSOPHILA, HOMOLOG-LIKE 1; ELAVL1 HU-ANTIGEN R; HuR Number Sign 603467 FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF Caret 603468 MOVED TO 227650 Caret 603469 MOVED TO 603240 Asterisk 603470 ARGININOSUCCINATE SYNTHETASE 1; ASS1 ASS ARGININOSUCCINATE SYNTHETASE PSEUDOGENES, INCLUDED Number Sign 603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 CITRIN DEFICIENCY NULL 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE NIID Asterisk 603473 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 1; LATS1 Asterisk 603474 RIBOSOMAL PROTEIN S19; RPS19 Asterisk 603475 CHORDIN; CHRD Asterisk 603476 cAMP RESPONSE ELEMENT-BINDING PROTEIN-LIKE 2; CREBL2 Asterisk 603477 BUD31, S. CEREVISIAE, HOMOLOG OF; BUD31 G10 MATERNAL TRANSCRIPT, XENOPUS, HOMOLOG OF Asterisk 603478 UBIQUITIN-SPECIFIC PROTEASE 1; USP1 Asterisk 603479 EXTRACELLULAR MATRIX PROTEIN 2; ECM2 Caret 603480 MOVED TO 300880 Asterisk 603481 PROTEASOME 26S SUBUNIT, NON-ATPase, 13; PSMD13 p40.5;; PROTEASE 26S, SUBUNIT 11; S11 Asterisk 603482 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN; BTRC BETA-TRCP;; BTRCP; BTRCP1;; SLIMB, DROSOPHILA, HOMOLOG OF;; F-BOX AND WD40 DOMAIN PROTEIN 1A; FBXW1A; FBW1A;; FBXW1 Asterisk 603483 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 3; EIF4EBP3 4EBP3 Asterisk 603484 PROTEIN REGULATING CYTOKINESIS 1; PRC1 Asterisk 603485 NITROGEN FIXATION GENE 1; NFS1 NITROGEN-FIXING BACTERIA S, HOMOLOG OF; NIFS;; CYSTEINE DESULFURASE;; ISCS Asterisk 603486 UBIQUITIN-SPECIFIC PROTEASE 4; USP4 UBIQUITIN-SPECIFIC PROTEASE; UNP Asterisk 603487 MYOSIN, SKELETAL MUSCLE, HEAVY CHAIN 13; MYH13 MYOSIN, HEAVY CHAIN, EXTRAOCULAR MUSCLE;; EO MYOSIN;; MYHC-EO Asterisk 603488 ANGIO-ASSOCIATED MIGRATORY CELL PROTEIN; AAMP Asterisk 603489 CARTILAGE INTERMEDIATE LAYER PROTEIN; CILP CILP1 NUCLEOTIDE PYROPHOSPHOHYDROLASE, PORCINE, HOMOLOG OF, INCLUDED;; NTPPHase, PORCINE, HOMOLOG OF, INCLUDED Asterisk 603490 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 4; WNT4 Asterisk 603491 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 3; IGSF3 Asterisk 603492 SLAM FAMILY, MEMBER 1; SLAMF1 SIGNALING LYMPHOCYTE ACTIVATION MOLECULE; SLAM;; CDW150;; CD150 Asterisk 603493 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 5; KCNK5 TASK2 Asterisk 603494 PREFOLDIN-LIKE CHAPERONE URI1; URI1 NNX3 PROTEIN; NNX3;; RNA POLYMERASE II, SUBUNIT 5-MEDIATING PROTEIN; RMP;; RPB5-MEDIATING PROTEIN;; UNCONVENTIONAL PREFOLDIN RPB5 INTERACTOR; URI Asterisk 603495 AURORA KINASE C; AURKC SERINE/THREONINE PROTEIN KINASE 13; STK13;; AURORA/IPL1/EG2-2; AIE2;; AURORA/IPL1-LIKE KINASE 3; AIK3 Asterisk 603496 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 2; DYRK2 Asterisk 603497 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 3; DYRK3 Asterisk 603498 SPHINGOMYELIN PHOSPHODIESTERASE 2, NEUTRAL MEMBRANE; SMPD2 SPHINGOMYELINASE, NEUTRAL, 1; NSMASE1 Asterisk 603499 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11A; TNFRSF11A RECEPTOR ACTIVATOR OF NF-KAPPA-B; RANK;; OSTEOCLAST DIFFERENTIATION FACTOR RECEPTOR; ODFR;; PDB2 GENE;; TRANCER;; LOSS OF HETEROZYGOSITY, CHROMOSOME 18, REGION 1; LOH18CR1;; OSTEOSARCOMA TUMOR SUPPRESSOR; OSTS Asterisk 603500 TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED DEATH DOMAIN PROTEIN; TRADD TNFR1-ASSOCIATED DEATH DOMAIN PROTEIN Asterisk 603501 POLY(ADP-RIBOSE) GLYCOHYDROLASE; PARG Asterisk 603502 INTERFERON-RELATED DEVELOPMENTAL REGULATOR 1; IFRD1 TETRADECANOYL PHORBOL ACETATE-INDUCED SEQUENCE 7; TIS7;; TPA-INDUCED SEQUENCE 7;; PC4 Asterisk 603503 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DPM1 DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 1;; DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 1;; MPD SYNTHASE; MPDS Asterisk 603504 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG A; CDC14A Asterisk 603505 CELL DIVISION CYCLE 14, S. CEREVISIAE, HOMOLOG B; CDC14B Asterisk 603506 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 5; LRP5 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 7; LRP7;; LR3 Asterisk 603507 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 6; LRP6 Asterisk 603508 MYOMESIN 1; MYOM1 TITIN-ASSOCIATED PROTEIN, 185-KD;; TITIN-ASSOCIATED PROTEIN, 190-KD;; SKELEMIN Asterisk 603509 MYOMESIN 2; MYOM2 TITIN-ASSOCIATED PROTEIN, 165-KD;; M BAND PROTEIN Caret 603510 MOVED TO 300904 Number Sign 603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E; LGMD1E;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D, FORMERLY; LGMD1D, FORMERLY Asterisk 603512 RNA GUANYLYLTRANSFERASE AND 5-PRIME-PHOSPHATASE; RNGTT HUMAN CAPPING ENZYME 1; HCE1;; CAPPING ENZYME 1, HUMAN;; CAP1A Number Sign 603513 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1 Asterisk 603514 RNA GUANINE-7-METHYLTRANSFERASE; RNMT MET Asterisk 603515 CHORIONIC SOMATOMAMMOTROPIN HORMONE-LIKE 1; CSHL1 CHORIONIC SOMATOMAMMOTROPIN-LIKE; CSL Number Sign 603516 SPINOCEREBELLAR ATAXIA 10; SCA10 Asterisk 603517 B-CELL CLL/LYMPHOMA 10; BCL10 B-CELL LEUKEMIA/LYMPHOMA 10 Asterisk 603518 TIA1 CYTOTOXIC GRANULE-ASSOCIATED RNA-BINDING PROTEIN; TIA1 Asterisk 603519 SURVIVAL MOTOR NEURON DOMAIN-CONTAINING PROTEIN 1; SMNDC1 SURVIVAL OF MOTOR NEURON-RELATED PROTEIN; SMNR;; SMN-RELATED PROTEIN Asterisk 603520 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE B-DOUBLE PRIME; SNRPB2 Asterisk 603521 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE A-PRIME; SNRPA1 Asterisk 603522 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE C; SNRPC NULL 603523 CHYLOTHORAX, CONGENITAL HYDROTHORAX, CONGENITAL Asterisk 603524 RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 2; RCBTB2 CHROMOSOME CONDENSATION 1-LIKE; CHC1L Asterisk 603525 NMYC INTERACTOR; NMI NMYC AND STAT INTERACTOR Asterisk 603526 METASTASIS-ASSOCIATED GENE 1; MTA1 Asterisk 603527 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 1; DPH1 DPH1, S. CEREVISIAE, HOMOLOG OF;; DPH2-LIKE 1; DPH2L1;; OVARIAN CANCER-ASSOCIATED GENE 1; OVCA1 Caret 603528 MOVED TO 194380 NULL 603529 DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN NULL 603530 LIGHT FIXATION SEIZURE SYNDROME LFSS;; M SYNDROME Asterisk 603531 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-1 SUBUNIT; AP1S1 CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 1; CLAPS1;; CLATHRIN ADAPTOR PROTEIN 19; AP19;; CLATHRIN ADAPTOR COMPLEX AP1, SIGMA-1A SUBUNIT Caret 603532 MOVED TO 300629 Asterisk 603533 ADAPTOR-RELATED PROTEIN COMPLEX 1, GAMMA-1 SUBUNIT; AP1G1 ADAPTIN, GAMMA; ADTG;; CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, GAMMA-1; CLAPG1 Asterisk 603534 ADAPTOR-RELATED PROTEIN COMPLEX 1, GAMMA-2 SUBUNIT; AP1G2 ADAPTIN, GAMMA-2;; CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, LARGE, GAMMA-2 Asterisk 603535 ADAPTOR-RELATED PROTEIN COMPLEX 1, MU-1 SUBUNIT; AP1M1 CLATHRIN ASSEMBLY PROTEIN COMPLEX AP1, MU SUBUNIT;; CLATHRIN ADAPTOR PROTEIN AP47; AP47;; MU-1A Asterisk 603536 FAR UPSTREAM ELEMENT-BINDING PROTEIN 3; FUBP3 FUSE-BINDING PROTEIN 3; FBP3 Asterisk 603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 4 Asterisk 603538 KYNURENINE 3-MONOOXYGENASE; KMO KYNURENINE 3-HYDROXYLASE Asterisk 603539 CATHEPSIN F; CTSF Asterisk 603540 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 1; GABBR1 GABA-B RECEPTOR, R1 SUBUNIT; GABABR1 Asterisk 603541 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE F; SNRPF Asterisk 603542 SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE G; SNRPG Number Sign 603543 LIMB-MAMMARY SYNDROME; LMS Asterisk 603544 CYCLIN K; CCNK CYCK Caret 603545 MOVED TO 600791 Number Sign 603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE;; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE;; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, HALL TYPE Asterisk 603547 METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2 DEMETHYLASE; DMTase Asterisk 603548 CDP-DIACYLGLYCEROL SYNTHASE 1; CDS1 PHOSPHATIDATE CYTIDYLYLTRANSFERASE 1 Asterisk 603549 CDP-DIACYLGLYCEROL SYNTHASE 2; CDS2 PHOSPHATIDATE CYTIDYLYLTRANSFERASE 2 Asterisk 603550 EYES ABSENT 4; EYA4 EYES ABSENT, DROSOPHILA, HOMOLOG OF, 4 Asterisk 603551 HYALURONOGLUCOSAMINIDASE 2; HYAL2 LUCA2;; HYALURONIDASE 2 Number Sign 603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 HPLH4;; HLH4 Number Sign 603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 HPLH2;; HLH2 Number Sign 603554 OMENN SYNDROME RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA;; SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA Asterisk 603555 SUPPRESSOR OF TY 4, S. CEREVISIAE, HOMOLOG OF, 1; SUPT4H1 SUPT4H Caret 603556 MOVED TO 300171 Asterisk 603557 MYOTUBULARIN-RELATED PROTEIN 2; MTMR2 KIAA1073 Asterisk 603558 MYOTUBULARIN-RELATED PROTEIN 3; MTMR3 KIAA0371 Asterisk 603559 MYOTUBULARIN-RELATED PROTEIN 4; MTMR4 KIAA0647 Asterisk 603560 SET-BINDING FACTOR 1; SBF1 MYOTUBULARIN-RELATED PROTEIN 5; MTMR5 Asterisk 603561 MYOTUBULARIN-RELATED PROTEIN 6; MTMR6 Asterisk 603562 MYOTUBULARIN-RELATED PROTEIN 7; MTMR7 Number Sign 603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8 Asterisk 603564 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2 DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 2;; DOLICHOL-PHOSPHATE MANNOSE SYNTHASE 2 Asterisk 603565 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 4; GALNT4 GalNAc TRANSFERASE 4; GalNAcT4 Asterisk 603566 PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1 DEAD/H BOX-BINDING PROTEIN 1; DDXBP1;; GU-BINDING PROTEIN; GBP Asterisk 603567 PROTEIN INHIBITOR OF ACTIVATED STAT2; PIAS2 PROTEIN INHIBITOR OF ACTIVATED STAT X; PIASX;; MIZ1 PIASX-ALPHA, INCLUDED;; PIASX-BETA, INCLUDED Asterisk 603568 RNA, U73 SMALL NUCLEOLAR; RNU73 snoRNA, U73 NULL 603569 TRACHEOBRONCHIAL STENOSIS, CONGENITAL Plus 603570 VANIN 1; VNN1 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8, INCLUDED; HDLCQ8, INCLUDED Asterisk 603571 VANIN 2; VNN2 NULL 603572 MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND MENTAL RETARDATION Asterisk 603573 METHYL-CpG-BINDING DOMAIN PROTEIN 3; MBD3 Asterisk 603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4 METHYL-CpG-BINDING ENDONUCLEASE; MED1 Asterisk 603575 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 5; NME5 NONMETASTATIC CELLS 5, PROTEIN EXPRESSED IN;; NONMETASTATIC PROTEIN 23, HOMOLOG 5; NM23H5;; RADIAL SPOKE HEAD 23, CHLAMYDOMONAS, HOMOLOG OF; RSPH23 Asterisk 603576 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1; TRPM1 MELASTATIN 1; MLSN1 Asterisk 603577 NUCLEOLAR PROTEIN 4; NOL4 NUCLEOLAR-LOCALIZED PROTEIN; NOLP Asterisk 603578 OVIDUCTAL GLYCOPROTEIN 1; OVGP1 OVIDUCTAL GLYCOPROTEIN, 120-KD Asterisk 603579 RIO KINASE 3; RIOK3 SUDD, ASPERGILLUS NIDULANS, HOMOLOG OF; SUDD Asterisk 603580 PROTOCADHERIN 8; PCDH8 Asterisk 603581 PROTOCADHERIN 9; PCDH9 Asterisk 603582 TOPOISOMERASE, DNA, III, BETA; TOP3B TOPOISOMERASE III-BETA Asterisk 603583 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 2; DLG2 CHANNEL-ASSOCIATED PROTEIN OF SYNAPSES, 110-KD;; CHAPSYN-110 Asterisk 603584 MAP KINASE-ACTIVATING DEATH DOMAIN; MADD DIFFERENTIALLY EXPRESSED IN NORMAL AND NEOPLASTIC CELLS; DENN;; INSULINOMA-GLUCAGONOMA PROTEIN 20; IG20;; RAB3 GDP/GTP EXCHANGE PROTEIN; RAB3GEP;; KIAA0358 Number Sign 603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F CDG IIf; CDGIIf Caret 603586 MOVED TO 603147 NULL 603587 FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS NULL 603588 PAROTITIS, JUVENILE RECURRENT NULL 603589 FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION Asterisk 603590 ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1 LARGE;; KIAA0609;; LIKE-GLYCOSYLTRANSFERASE Asterisk 603591 UBIQUITIN-SPECIFIC PROTEASE 13; USP13 ISOPEPTIDASE T3; ISOT3 Number Sign 603592 XANTHINURIA, TYPE II; XAN2 XANTHINE DEHYDROGENASE AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF Asterisk 603593 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 7; SLC7A7 y(+)L-TYPE AMINO ACID TRANSPORTER 1;; y(+)LAT1 Asterisk 603594 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4 GLYCOPROTEIN, 34-KD; GP34;; OX40 ANTIGEN LIGAND; OX40L;; CD134 LIGAND; CD134L NULL 603595 CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS Number Sign 603596 POLYDACTYLY Asterisk 603597 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1 STAT-INDUCED STAT INHIBITOR 1; SSI1;; CYTOKINE-INDUCIBLE SH2 PROTEIN 1; CIS1; CISH1;; JAK-BINDING PROTEIN; JAB;; TEC-INTERACTING PROTEIN 3; TIP3 Asterisk 603598 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10 TNF-RELATED APOPTOSIS-INDUCING LIGAND; TRAIL;; APO2 LIGAND; APO2L Asterisk 603599 CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR FLICE INHIBITORY PROTEIN; FLIP;; INHIBITOR OF FLICE; I-FLICE;; CASPASE-EIGHT-RELATED PROTEIN; CASPER;; FADD-LIKE ANTIAPOPTOTIC MOLECULE 1; FLAME1;; CASPASE HOMOLOG; CASH;; CASPASE-LIKE APOPTOSIS REGULATORY PROTEIN; CLARP;; MACH-RELATED INDUCER OF TOXICITY; MRIT NULL 603600 OSTEOMA OF CRANIAL VAULT, FAMILIAL Asterisk 603601 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, ALPHA; PIK3C2A C2-CONTAINING PHOSPHATIDYLINOSITOL KINASE; CPK Asterisk 603602 PHOSPHOLIPASE A2, GROUP IVC; PLA2G4C PHOSPHOLIPASE A2, CYTOSOLIC, CALCIUM-INDEPENDENT, GAMMA;; CPLA2-GAMMA Asterisk 603603 PHOSPHOLIPASE A2, GROUP X; PLA2G10 SECRETORY PHOSPHOLIPASE A2, GROUP X; SPLA2;; PHOSPHOLIPASE A2, SECRETORY, CALCIUM-DEPENDENT, GROUP X; GXSPLA2 Asterisk 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6 PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT; IPLA2;; PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 9; PNPLA9;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, GROUP VI, A;; IPLA2-VIA Asterisk 603605 AMINOACYL-tRNA SYNTHETASE COMPLEX-INTERACTING MULTIFUNCTIONAL PROTEIN 1; AIMP1 ARS-INTERACTING MULTIFUNCTIONAL PROTEIN 1;; ENDOTHELIAL MONOCYTE-ACTIVATING POLYPEPTIDE 2; EMAP2; EMAPII;; SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1, FORMERLY; SCYE1, FORMERLY Asterisk 603606 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 4; RPS6KA4 RIBOSOMAL S6 KINASE B; RSKB;; MITOGEN- AND STRESS-ACTIVATED PROTEIN KINASE 2; MSK2 Asterisk 603607 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 5; RPS6KA5 MITOGEN- AND STRESS-ACTIVATED PROTEIN KINASE 1; MSK1 Asterisk 603608 CARBONYL REDUCTASE 3; CBR3 Asterisk 603609 FUCOSE-1-PHOSPHATE GUANYLYLTRANSFERASE; FPGT GDP-BETA-L-FUCOSE PYROPHOSPHORYLASE; GFPP Asterisk 603610 UNC5, C. ELEGANS, HOMOLOG OF, C; UNC5C UNC5H3 Asterisk 603611 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10A; TNFRSF10A DEATH RECEPTOR 4; DR4;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 1; TRAILR1;; APO2 Asterisk 603612 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B DEATH RECEPTOR 5; DR5;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 2; TRAILR2;; KILLER/DR5;; TRICK2 Asterisk 603613 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C DECOY RECEPTOR 1; DCR1;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 3; TRAILR3;; TRAIL RECEPTOR WITHOUT AN INTRACELLULAR DOMAIN; TRID Asterisk 603614 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10D; TNFRSF10D DECOY RECEPTOR 2; DCR2;; TNF-RELATED APOPTOSIS-INDUCING LIGAND RECEPTOR 4; TRAILR4;; TRAIL RECEPTOR WITH A TRUNCATED DEATH DOMAIN; TRUNDD Asterisk 603615 RAD54, S. CEREVISIAE, HOMOLOG-LIKE; RAD54L HR54;; HRAD54 Asterisk 603616 RABAPTIN, RAB GTPase-BINDING EFFECTOR PROTEIN 1; RABEP1 RABAPTIN 5; RABPT5 RABEP1/PDGFRB FUSION GENE, INCLUDED Asterisk 603617 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 1; SLC24A1 SODIUM/CALCIUM/POTASSIUM EXCHANGER 1; NCKX1 Asterisk 603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20 p55CDC Asterisk 603619 FIZZY-RELATED PROTEIN, DROSOPHILA, HOMOLOG OF, 1; FZR1 FZR, DROSOPHILA, HOMOLOG OF, 1;; CDH1/HCT1, S. CEREVISIAE, HOMOLOG OF; HCDH; HCDH1 Asterisk 603620 PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1 TRANSCRIPTIONAL COACTIVATOR p75; p75;; LENS EPITHELIUM-DERIVED GROWTH FACTOR; LEDGF TRANSCRIPTIONAL COACTIVATOR p52, INCLUDED Asterisk 603621 FORKHEAD BOX H1; FOXH1 FORKHEAD ACTIVIN SIGNAL TRANSDUCER 1, XENOPUS, HOMOLOG OF; FAST1;; TGF-BETA/ACTIVIN SIGNAL TRANSDUCER FAST1 Number Sign 603622 DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED Asterisk 603623 TYROSYL-tRNA SYNTHETASE; YARS TYRRS;; YTS;; YRS Asterisk 603624 RIBOSOMAL PROTEIN S2; RPS2 Asterisk 603625 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS H; LY6H Asterisk 603626 PROTOCADHERIN 1; PCDH1 PC42 Asterisk 603627 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 3; PCDHGC3 PCDH-GAMMA-C3;; PC43;; PROTOCADHERIN 2, FORMERLY; PCDH2, FORMERLY Asterisk 603628 MUSCULIN; MSC ACTIVATED B-CELL FACTOR 1; ABF1;; MYOGENIC REPRESSOR; MYOR Number Sign 603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 Asterisk 603630 RIBOSOMAL PROTEIN S5; RPS5 Asterisk 603631 RIBOSOMAL PROTEIN S9; RPS9 Asterisk 603632 RIBOSOMAL PROTEIN S10; RPS10 Asterisk 603633 RIBOSOMAL PROTEIN S29; RPS29 Asterisk 603634 RIBOSOMAL PROTEIN L5; RPL5 Asterisk 603635 RNA, U21 SMALL NUCLEOLAR; RNU21 snoRNA, U21 Asterisk 603636 RIBOSOMAL PROTEIN L21; RPL21 Asterisk 603637 RIBOSOMAL PROTEIN L27a; RPL27A Asterisk 603638 RIBOSOMAL PROTEIN L28; RPL28 Asterisk 603639 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17 TUMOR NECROSIS FACTOR-ALPHA CONVERTING ENZYME; TACE Asterisk 603640 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 19; ADAM19 MELTRIN-BETA, MOUSE, HOMOLOG OF; MLTNB NULL 603641 NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA NULL 603642 ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS NULL 603643 SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS Asterisk 603644 SCO1 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN; SCO1 SCO1, S. CEREVISIAE, HOMOLOG OF;; CYTOCHROME OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF; SCOD1 Asterisk 603645 GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT B; GATB GLUTAMYL-tRNA-GLN AMIDOTRANSFERASE, SUBUNIT B, MITOCHONDRIAL;; PET112, S. CEREVISIAE, HOMOLOG OF; PET112;; PET112-LIKE; PET112L Asterisk 603646 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX15; COX15 COX15, S. CEREVISIAE, HOMOLOG OF Asterisk 603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L Asterisk 603648 CYTOCHROME c OXIDASE COPPER CHAPERONE COX11; COX11 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX11;; COX11, S. CEREVISIAE, HOMOLOG OF Number Sign 603649 CONE-ROD DYSTROPHY 7; CORD7 Asterisk 603650 BBS5 GENE; BBS5 Asterisk 603651 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4; TRPC4 TRANSIENT RECEPTOR POTENTIAL CHANNEL 4;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 4; TRP4;; TRPC4-ALPHA TRPC4-BETA, INCLUDED Asterisk 603652 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6; TRPC6 TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 6; TRP6 Caret 603653 REMOVED FROM DATABASE Asterisk 603654 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 7; SLC16A7 MONOCARBOXYLATE TRANSPORTER 2; MCT2 Caret 603655 MOVED TO 139391 NULL 603656 EXOSTOSIS, DUPUYTREN SUBUNGUAL Asterisk 603657 VESICLE-ASSOCIATED MEMBRANE PROTEIN 3; VAMP3 CELLUBREVIN; CEB Asterisk 603658 RIBOSOMAL PROTEIN S7; RPS7 Asterisk 603659 GLUCAGON-LIKE PEPTIDE 2 RECEPTOR; GLP2R Asterisk 603660 RIBOSOMAL PROTEIN S12; RPS12 Asterisk 603661 RIBOSOMAL PROTEIN L17; RPL17 Asterisk 603662 RIBOSOMAL PROTEIN L23; RPL23 Percent 603663 MENTAL HEALTH WELLNESS 1 MHW1 NULL 603664 MENTAL HEALTH WELLNESS 2 MHW2 Asterisk 603665 STANNIOCALCIN 2; STC2 STANNIOCALCIN-RELATED PROTEIN; STCRP Asterisk 603666 SYNTAXIN 16; STX16 SYN16 Asterisk 603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12; SLC25A12 ARALAR;; ASPARTATE-GLUTAMATE CARRIER ISOFORM 1, MITOCHONDRIAL; AGC1 Asterisk 603668 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 11; SCAF11 SR-RELATED CTD-ASSOCIATED FACTOR 11;; SPLICING FACTOR, ARGININE/SERINE-RICH, 2-INTERACTING PROTEIN; SFRS2IP;; SFRS2-INTERACTING PROTEIN;; SC35-INTERACTING PROTEIN 1; SIP1;; CTD-ASSOCIATED SR PROTEIN 11; CASP11;; SR-RELATED PROTEIN, 129-KD; SRRP129 NULL 603669 ECCRINE SYRINGOFIBROADENOMATOSIS WITH EYELID ABNORMALITIES NULL 603670 BLUE NEVI, FAMILIAL MULTIPLE Number Sign 603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND Asterisk 603672 CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2, TRANSLOCATED TO, 2; CBFA2T2 MYELOID TRANSLOCATION GENE-RELATED PROTEIN 1; MTGR1;; ETO HOMOLOG ON CHROMOSOME 20; EHT;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 3; ZMYND3 Asterisk 603673 PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2 Asterisk 603674 RIBOSOMAL PROTEIN S15a; RPS15A Asterisk 603675 RIBOSOMAL PROTEIN S16; RPS16 Caret 603676 MOVED TO 181350 Asterisk 603677 MYELIN TRANSCRIPTION FACTOR 2; MYT2 CEREBRIN 50 Percent 603678 DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14 Asterisk 603679 UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N UBIQUITIN-CONJUGATING ENZYME 13, S. CEREVISIAE, HOMOLOG OF; UBC13; UBCH13;; BENDLESS, DROSOPHILA, HOMOLOG OF; UBCHBEN Asterisk 603680 ATAXIN 8 OPPOSITE STRAND; ATXN8OS SCA8 GENE; SCA8;; KLHL1AS Asterisk 603681 OTOFERLIN; OTOF Asterisk 603682 RIBOSOMAL PROTEIN S20; RPS20 Asterisk 603683 RIBOSOMAL PROTEIN S23; RPS23 Asterisk 603684 LIPASE, ENDOTHELIAL; LIPG EL;; ENDOTHELIAL CELL-DERIVED LIPASE; EDL Asterisk 603685 RIBOSOMAL PROTEIN S28; RPS28 Asterisk 603686 RIBOSOMAL PROTEIN L9; RPL9 Asterisk 603687 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2 RETINALDEHYDE DEHYDROGENASE 2; RALDH2 Number Sign 603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY PCBC;; CAPB Number Sign 603689 MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE; MFM9 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF;; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT; MPRM;; EDSTROM MYOPATHY;; MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT Asterisk 603690 SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1 ACETYL-CoA TRANSPORTER; ACATN;; AT1 Asterisk 603691 GALANIN RECEPTOR 2; GALR2 GALNR2 Asterisk 603692 GALANIN RECEPTOR 3; GALR3 Asterisk 603693 ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2 FRIEND OF GATA2; FOG2;; TRANSCRIPTION FACTOR GATA4, MODULATOR OF FOG2/AML1 FUSION GENE, INCLUDED Percent 603694 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3 NIDDM3;; NONINSULIN-DEPENDENT DIABETES MELLITUS 3 Asterisk 603695 GUANYLATE CYCLASE 1, SOLUBLE, BETA-2; GUCY1B2 GUANYLATE CYCLASE, SOLUBLE, BETA-2;; GCS-BETA-2 Asterisk 603696 SEPTIN 4; SEPT4 SEP4;; PEANUT-LIKE 2; PNUTL2;; BRADEION;; APOPTOSIS-RELATED PROTEIN IN THE TGF-BETA SIGNALING PATHWAY; ARTS Asterisk 603697 ARACHIDONATE 15-LIPOXYGENASE, SECOND TYPE; ALOX15B 15-LIPOXYGENASE, RETICULOCYTE ARACHIDONATE, SECOND TYPE Asterisk 603698 GOLGI-SPECIFIC BREFELDIN-A RESISTANCE FACTOR 1; GBF1 Asterisk 603699 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11 Asterisk 603700 ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP FIVE-LIPOXYGENASE-ACTIVATING PROTEIN; FLAP;; 5-LIPOXYGENASE-ACTIVATING PROTEIN Asterisk 603701 RIBOSOMAL PROTEIN S26; RPS26 Asterisk 603702 RIBOSOMAL PROTEIN S27; RPS27 METALLOPANSTIMULIN 1; MPS1 Asterisk 603703 RIBOSOMAL PROTEIN L6; RPL6 Asterisk 603704 RIBOSOMAL PROTEIN L26; RPL26 Asterisk 603705 ANGIOPOIETIN 4; ANGPT4 ANG4 Asterisk 603706 SEMAPHORIN 4F; SEMA4F SEMAPHORIN W; SEMAW;; SEMAPHORIN M; SEMAM Asterisk 603707 MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1 MOCS1A, INCLUDED;; MOCS1B, INCLUDED Asterisk 603708 MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2 MOLYBDOPTERIN SYNTHASE; MPTS;; MOCO1 Asterisk 603709 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 22; ADAM22 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 2; MDC2 Asterisk 603710 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 23; ADAM23 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 3; MDC3 Asterisk 603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1 OXYSTEROL 7-ALPHA-HYDROXYLASE 1 Asterisk 603712 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 20; ADAM20 Asterisk 603713 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 21; ADAM21 Asterisk 603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3 Asterisk 603715 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 1; GCM1 GCMA Asterisk 603716 GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCM2 GCMB Asterisk 603717 ATPase, H+ TRANSPORTING, LYSOSOMAL, 21-KD, V0 SUBUNIT C-PRIME, PRIME; ATP6V0B ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT F; ATP6F;; VACUOLAR PROTON PUMP, 21-KD SUBUNIT;; VMA16, S. CEREVISIAE, HOMOLOG OF; VMA16 Asterisk 603718 CLAUDIN 1; CLDN1 SENESCENCE-ASSOCIATED EPITHELIAL MEMBRANE PROTEIN 1; SEMP1 Asterisk 603719 BUDDING UNINHIBITED BY BENZIMIDAZOLES 3, S. CEREVISIAE, HOMOLOG OF; BUB3 Number Sign 603720 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 Asterisk 603721 UBIQUITIN-CONJUGATING ENZYME E2L 3; UBE2L3 UBIQUITIN-CONJUGATING ENZYME UBCH7; UBCH7 Asterisk 603722 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN; IKBKAP IKK COMPLEX-ASSOCIATED PROTEIN; IKAP;; ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 1; ELP1;; ELP1, YEAST, HOMOLOG OF Caret 603723 MOVED TO 300248 Caret 603724 MOVED TO 300827 Asterisk 603725 FIBROBLAST GROWTH FACTOR 17; FGF17 Asterisk 603726 FIBROBLAST GROWTH FACTOR 18; FGF18 Asterisk 603727 GLUTAMINYL-tRNA SYNTHETASE; QARS GLNRS Asterisk 603728 NUMB, DROSOPHILA, HOMOLOG OF; NUMB Asterisk 603729 SPHINGOSINE-1-PHOSPHATE LYASE 1; SGPL1 SPL Asterisk 603730 SPHINGOSINE KINASE 1; SPHK1 Asterisk 603731 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 8; CNOT8 CAF1-LIKE FACTOR; CALIF;; PKG PROMOTER-DIRECTED OVERPRODUCTION 2, S. CEREVISIAE, HOMOLOG OF; POP2 Asterisk 603732 CRYPTOCHROME 2; CRY2 Asterisk 603733 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 1; SLC43A1 L-TYPE AMINO ACID TRANSPORTER 3; LAT3;; PROSTATE CANCER OVEREXPRESSED GENE 1; POV1 Asterisk 603734 INTERFERON REGULATORY FACTOR 3; IRF3 Asterisk 603735 AMINE OXIDASE, COPPER-CONTAINING, 3; AOC3 HUMAN PLACENTA AMINE OXIDASE; HPAO;; VASCULAR ADHESION PROTEIN 1; VAP1 Number Sign 603736 OHDO SYNDROME, SBBYS VARIANT; SBBYSS SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME;; YOUNG-SIMPSON SYNDROME; YSS NULL 603737 OVARIAN GERM CELL CANCER Asterisk 603738 BASIC TRANSCRIPTION FACTOR 3-LIKE 2; BTF3L2 Asterisk 603739 BASIC TRANSCRIPTION FACTOR 3-LIKE 3; BTF3L3 NULL 603740 ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA Asterisk 603741 ARACHIDONATE 12-LIPOXYGENASE, R TYPE; ALOX12B 12R-LIPOXYGENASE;; 12R-LOX;; 12-LIPOXYGENASE, R TYPE Asterisk 603742 SLIT, DROSOPHILA, HOMOLOG OF, 1; SLIT1 SLIT GUIDANCE LIGAND 1;; SLIL1;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 4; MEGF4 Asterisk 603743 APOLIPOPROTEIN L-I; APOL1 APOL;; APOL-I NULL 603744 PAPILLARY THYROID MICROCARCINOMA Asterisk 603745 SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3 SLIT GUIDANCE LIGAND 3;; SLIL2;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 5; MEGF5 Asterisk 603746 SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2 SLIT GUIDANCE LIGAND 2 Asterisk 603747 TUMOR PROTEIN D52-LIKE 2; TPD52L2 D54 Caret 603748 MOVED TO 300297 Asterisk 603749 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2; TRPM2 TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; TRPC7;; LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 2; LTRPC2;; KNP3 Asterisk 603750 AQUAPORIN 8; AQP8 Asterisk 603751 SPHINGOSINE-1-PHOSPHATE RECEPTOR 4; S1PR4 ENDOTHELIAL DIFFERENTIATION GENE 6; EDG6;; S1P RECEPTOR 4; S1P4 Asterisk 603752 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 4; SLC7A4 CATIONIC AMINO ACID TRANSPORTER 4; CAT4 Asterisk 603753 UBIQUITINATION FACTOR E4A; UBE4A UFD2, S. CEREVISIAE, HOMOLOG OF;; UBIQUITIN CONJUGATION FACTOR E4; E4 Asterisk 603754 KINESIN FAMILY MEMBER 3B; KIF3B KIAA0359 Asterisk 603755 ZINC FINGER FYVE TYPE-CONTAINING PROTEIN 9; ZFYVE9 SMAD ANCHOR FOR RECEPTOR ACTIVATION; SARA;; MADH-INTERACTING PROTEIN; MADHIP;; RECEPTOR ACTIVATION ANCHOR Asterisk 603756 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2 ATP-BINDING CASSETTE TRANSPORTER, PLACENTA-SPECIFIC; ABCP;; BREAST CANCER RESISTANCE PROTEIN; BCRP;; MITOXANTRONE-RESISTANCE PROTEIN; MRX Asterisk 603757 CHEMOKINE, CC MOTIF, LIGAND 18; CCL18 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 18; SCYA18;; PULMONARY AND ACTIVATION-REGULATED CHEMOKINE; PARC;; ALTERNATIVE MACROPHAGE ACTIVATION-ASSOCIATED CC CHEMOKINE 1; AMAC1;; DENDRITIC CELL CHEMOKINE 1; DCCK1 Asterisk 603758 GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1 GLUTATHIONE S-TRANSFERASE Z1;; MALEYLACETOACETATE ISOMERASE; MAAI Asterisk 603759 LIM HOMEOBOX GENE 2; LHX2 LIM HOX GENE 2; LH2 Asterisk 603760 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF; HUS1 Asterisk 603761 RAD9, S. POMBE, HOMOLOG OF, A; RAD9A RAD9, S. POMBE, HOMOLOG OF; RAD9 Asterisk 603762 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 2; PRPSAP2 PAP41 Asterisk 603763 KINESIN FAMILY MEMBER C1; KIFC1 KINESIN-LIKE 2; KNSL2;; HSET Asterisk 603764 CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 2; CDK5R2 NEURONAL CDK5 ACTIVATOR ISOFORM; NCK5AI;; CYCLIN-DEPENDENT KINASE 5, REGULATORY PARTNER, 39-KD; p39;; p39(NCK5AI) Asterisk 603765 SYNTAXIN 10; STX10 SYN10 Asterisk 603766 MITOCHONDRIAL TRANSLATIONAL INITIATION FACTOR 2; MTIF2 Asterisk 603767 KALLIKREIN-RELATED PEPTIDASE 4; KLK4 KALLIKREIN 4;; PROTEASE, SERINE, 17; PRSS17;; PROSTASE; PSTS;; ENAMEL MATRIX SERINE PROTEINASE 1; EMSP1 Asterisk 603768 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12B; PPP1R12B MYOSIN PHOSPHATASE TARGET SUBUNIT 2; MYPT2 Asterisk 603769 T-CELL LYMPHOMA/LEUKEMIA 1B; TCL1B TML1 Asterisk 603770 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1B; PPM1B PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1B;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, BETA ISOFORM;; PROTEIN PHOSPHATASE 2C, BETA ISOFORM, FORMERLY; PP2CB, FORMERLY Asterisk 603771 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 10; PPP1R10 PROTEIN PHOSPHATASE 1 NUCLEAR TARGETING SUBUNIT; PNUTS;; PP1 NUCLEAR TARGETING SUBUNIT Asterisk 603772 DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 1; DYNC1I1 DNCI1;; IC74 Asterisk 603773 CYTOCHROME c OXIDASE, SUBUNIT 5A; COX5A CYTOCHROME c OXIDASE, SUBUNIT Va Asterisk 603774 CYTOCHROME c OXIDASE, SUBUNIT 7C; COX7C CYTOCHROME c OXIDASE, SUBUNIT VIIc Asterisk 603775 CYCLIN E2; CCNE2 Number Sign 603776 HYPERCHOLESTEROLEMIA, FAMILIAL, 3; FHCL3 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3;; FH3 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1, INCLUDED; LDLCQ1, INCLUDED Asterisk 603777 CERBERUS 1 HOMOLOG, CYSTINE KNOT SUPERFAMILY; CER1 CERBERUS, XENOPUS, HOMOLOG OF, 1 Asterisk 603778 CHROMODOMAIN PROTEIN ON Y CHROMOSOME-LIKE; CDYL Asterisk 603779 SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP SYNPHILIN 1 Asterisk 603780 RECQ PROTEIN-LIKE 4; RECQL4 DNA HELICASE, RECQ-LIKE, TYPE 4; RECQ4 Asterisk 603781 RECQ PROTEIN-LIKE 5; RECQL5 DNA HELICASE, RECQ-LIKE, TYPE 5; RECQ5 Asterisk 603782 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 1; CCL4L1 CCL4L;; SMALL INDUCIBLE CYTOKINE A4-LIKE; SCYA4L;; LYMPHOCYTE ACTIVATION GENE 1; LAG1;; AT744.2 Percent 603783 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1 INTLQ1;; COGNITIVE ABILITY, GENERAL SELF-PERCEIVED ABILITY, INCLUDED Asterisk 603784 PITUITARY TUMOR-TRANSFORMING GENE 1 PROTEIN-INTERACTING PROTEIN; PTTG1IP PTTG-BINDING FACTOR; PBF;; CHROMOSOME 21 OPEN READING FRAME 1; C21ORF1;; CHROMOSOME 21 OPEN READING FRAME 3; C21ORF3 Asterisk 603785 MULTIPLE PDZ DOMAIN PROTEIN; MPDZ MUPP1 Number Sign 603786 STARGARDT DISEASE 4; STGD4 Asterisk 603787 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY F, MEMBER 1; KCNF1 KH1 Asterisk 603788 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 1; KCNG1 KH2 Caret 603789 MOVED TO 300237 Asterisk 603790 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 1; SLC23A1 SODIUM-DEPENDENT VITAMIN C TRANSPORTER 1; SVCT1;; YOLK SAC PERMEASE-LIKE MOLECULE 3; YSPL3 Asterisk 603791 SOLUTE CARRIER FAMILY 23 (NUCLEOBASE TRANSPORTER), MEMBER 2; SLC23A2 SODIUM-DEPENDENT VITAMIN C TRANSPORTER 2; SVCT2;; YOLK SAC PERMEASE-LIKE MOLECULE 2; YSPL2;; KIAA0238 Caret 603792 MOVED TO 300885 Caret 603793 REMOVED FROM DATABASE NULL 603794 HYDROA VACCINIFORME, FAMILIAL Asterisk 603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF LPS-INDUCED TNF-ALPHA FACTOR;; SMALL INTEGRAL MEMBRANE PROTEIN OF LYSOSOME/LATE ENDOSOME; SIMPLE Asterisk 603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2; KCNE2 MINIMUM POTASSIUM ION CHANNEL-RELATED PEPTIDE 1; MIRP1;; MINK-RELATED PEPTIDE 1 Asterisk 603797 CARBOHYDRATE SULFOTRANSFERASE 1; CHST1 KERATAN SULFATE GAL-6-SULFOTRANSFERASE; KSGAL6ST Asterisk 603798 CARBOHYDRATE SULFOTRANSFERASE 2; CHST2 N-ACETYLGLUCOSAMINE-6-O-SULFOTRANSFERASE 1;; GlcNAc-6-O-SULFOTRANSFERASE;; GlcNAc6ST1;; GST2 Asterisk 603799 CARBOHYDRATE SULFOTRANSFERASE 3; CHST3 CHONDROITIN 6-SULFOTRANSFERASE; C6ST;; C6ST1 Asterisk 603800 MEDIATOR COMPLEX SUBUNIT 21; MED21 SUPPRESSOR OF RNA POLYMERASE B 7, S. CEREVISIAE, HOMOLOG OF; SURB7; SRB7 Asterisk 603801 N-MYRISTOYLTRANSFERASE 2; NMT2 Percent 603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN Asterisk 603803 DACHSHUND, DROSOPHILA, HOMOLOG OF, 1; DACH1 DACH Asterisk 603804 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 1; NEURL1 NEURALIZED-LIKE; NEURL;; NEUR1 Asterisk 603805 TRANSGLUTAMINASE 5; TGM5 TRANSGLUTAMINASE X; TGX NULL 603806 URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO Caret 603807 MOVED TO 107250 Asterisk 603808 MEDIATOR COMPLEX SUBUNIT 13; MED13 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 1; THRAP1;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 240-KD; TRAP240 Asterisk 603809 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 3; THRAP3 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 150-KD; TRAP150 Asterisk 603810 MEDIATOR COMPLEX SUBUNIT 17; MED17 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 17, S. CEREVISIAE, HOMOLOG OF;; COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 6; CRSP6;; CRSP, 77-KD SUBUNIT; CRSP77;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 80-KD SUBUNIT; TRAP80;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 80-KD; DRIP80 Asterisk 603811 BARRIER-TO-AUTOINTEGRATION FACTOR 1; BANF1 BARRIER-TO-AUTOINTEGRATION FACTOR; BAF Asterisk 603812 DDB1- AND CUL4-ASSOCIATED FACTOR 5; DCAF5 WD REPEAT-CONTAINING PROTEIN 22; WDR22;; BREAKPOINT CLUSTER REGION PROTEIN 2; BCRP2;; D14S1461E Number Sign 603813 HYPERCHOLESTEROLEMIA, FAMILIAL, 4; FHCL4 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH;; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY; ARH1, FORMERLY;; FHCB1, FORMERLY;; HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY; ARH2, FORMERLY;; FHCB2, FORMERLY Asterisk 603814 RING-BOX 1; RBX1 REGULATOR OF CULLINS 1; ROC1 Asterisk 603815 KINESIN FAMILY MEMBER 25; KIF25 KINESIN-LIKE 3; KNSL3 Asterisk 603816 AXIS INHIBITOR 1; AXIN1 AXIN;; FUSED, MOUSE, HOMOLOG OF Asterisk 603817 DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR 2; DDEF2 PYK C-TERMINUS ASSOCIATED PROTEIN; PAP;; KIAA0400 Asterisk 603818 NEUREGULIN 2; NRG2 DIVERGENT OF NEUREGULIN 1; DON1;; NEURAL- AND THYMUS-DERIVED ACTIVATOR FOR THE ERBB KINASE; NTAK Asterisk 603819 STEROID RECEPTOR RNA ACTIVATOR 1; SRA1 SRA Asterisk 603820 FREE FATTY ACID RECEPTOR 1; FFAR1 G PROTEIN-COUPLED RECEPTOR 40; GPR40 Asterisk 603821 FREE FATTY ACID RECEPTOR 3; FFAR3 G PROTEIN-COUPLED RECEPTOR 41; GPR41 Asterisk 603822 G PROTEIN-COUPLED RECEPTOR 42; GPR42 Asterisk 603823 FREE FATTY ACID RECEPTOR 2; FFAR2 G PROTEIN-COUPLED RECEPTOR 43; GPR43 Asterisk 603824 UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE; GNE GLCNE Asterisk 603825 HYPERMETHYLATED IN CANCER 1; HIC1 Asterisk 603826 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 4; NR1H4 FARNESOID X-ACTIVATED RECEPTOR; FXR;; RETINOID X RECEPTOR-INTERACTING PROTEIN 14; RIP14;; RXR-INTERACTING PROTEIN 14;; BILE ACID RECEPTOR; BAR Asterisk 603827 BCL2-LIKE 11; BCL2L11 BCL2-INTERACTING PROTEIN BIM; BIM NULL 603828 BRITTLE BONE DISORDER Number Sign 603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1 VF;; IVF VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, INCLUDED Number Sign 603830 LONG QT SYNDROME 3; LQT3 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;; LONG QT SYNDROME 3/6, DIGENIC, INCLUDED; LQT3/6, DIGENIC, INCLUDED Asterisk 603831 PDZ DOMAIN-CONTAINING 1; PDZK1 PDZD1;; C-TERMINAL LINKING AND MODULATING PROTEIN; CLAMP;; CFTR-ASSOCIATED PROTEIN, 70-KD; CAP70 Asterisk 603832 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 3; NDUFA3 Asterisk 603833 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 4; NDUFA4 MLRQ Asterisk 603834 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 9; NDUFA9 Asterisk 603835 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 10; NDUFA10 Asterisk 603836 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA/BETA SUBCOMPLEX, 1; NDUFAB1 ACYL CARRIER PROTEIN, MITOCHONDRIAL; ACP Asterisk 603837 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 1; NDUFB1 Asterisk 603838 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 2; NDUFB2 Asterisk 603839 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 3; NDUFB3 Asterisk 603840 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 4; NDUFB4 Asterisk 603841 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 5; NDUFB5 Asterisk 603842 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 7; NDUFB7 SQM1 Asterisk 603843 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 10; NDUFB10 Asterisk 603844 NADH-UBIQUINONE OXIDOREDUCTASE 1, SUBUNIT C1; NDUFC1 Asterisk 603845 NADH-UBIQUINONE OXIDOREDUCTASE 1, SUBUNIT C2; NDUFC2 Asterisk 603846 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3; NDUFS3 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT Asterisk 603847 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 5; NDUFS5 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 15-KD SUBUNIT Asterisk 603848 NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 6; NDUFS6 COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 13-KD SUBUNIT Asterisk 603849 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 1; NR2E1 TAILLESS, DROSOPHILA, HOMOLOG OF; TLX Asterisk 603850 DYNAMIN 1-LIKE; DNM1L DYNAMIN-LIKE PROTEIN 1; DLP1;; DYNAMIN-RELATED PROTEIN 1; DRP1;; S. CEREVISIAE DNM1/VPS1-LIKE PROTEIN; DVLP;; DYNAMIN FAMILY MEMBER, PROLINE-RICH C-TERMINAL DOMAIN-LESS; DYMPLE Asterisk 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B PAIRED MESODERM HOMEOBOX 2B; PMX2B;; NEUROBLASTOMA PAIRED-TYPE HOMEOBOX GENE; NBPHOX Asterisk 603852 TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 4; TSSC4 TUMOR-SUPPRESSING STF cDNA 4 Asterisk 603853 TETRASPANIN 32; TSPAN32 PAN-HEMATOPOIETIC EXPRESSION GENE; PHEMX;; TUMOR-SUPPRESSING SUBCHROMOSOMAL TRANSFERABLE FRAGMENT CANDIDATE GENE 6; TSSC6;; TUMOR-SUPPRESSING STF cDNA 6;; AML1-REGULATED TRANSMEMBRANE PROTEIN 1; ART1 Asterisk 603854 RAN-BINDING PROTEIN 9; RANBP9 RANBPM Percent 603855 CYSTIC FIBROSIS, MODIFIER OF, 1; CFM1 MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO, INCLUDED Asterisk 603856 MAKORIN 3; MKRN3 ZINC FINGER PROTEIN 127; ZNF127; ZFP127 Asterisk 603857 MKRN3 ANTISENSE RNA; MKRN3AS ZINC FINGER PROTEIN 127, ANTISENSE; ZNF127AS Caret 603858 MOVED TO 256370 Asterisk 603859 SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13 CITRIN Number Sign 603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT; ADMCKD2 Asterisk 603861 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15; SLC25A15 ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1; ORNT1 Asterisk 603862 CYCLIN T2; CCNT2 Asterisk 603863 RING FINGER PROTEIN 7; RNF7 REGULATOR OF CULLINS 2; ROC2;; RBX2;; SENSITIVE TO APOPTOSIS GENE; SAG Asterisk 603864 COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE; CCS Asterisk 603865 GLUTAMINE:FRUCTOSE-6-PHOSPHATE AMIDOTRANSFERASE 2; GFPT2 GFAT2 Asterisk 603866 PEROXISOME BIOGENESIS FACTOR 11A; PEX11A PEX11-ALPHA Asterisk 603867 PEROXISOME BIOGENESIS FACTOR 11B; PEX11B PEX11-BETA Asterisk 603868 RAS-ASSOCIATED PROTEIN RAB27A; RAB27A RAB27;; RAS-RELATED GENE FROM MEGAKARYOCYTE; RAM Asterisk 603869 RAS-ASSOCIATED PROTEIN RAB27B; RAB27B Asterisk 603870 CORE-BINDING FACTOR, ALPHA SUBUNIT 2, TRANSLOCATED TO, 3; CBFA2T3 MTG8-RELATED GENE 2; MTGR2;; MYELOID TRANSLOCATION GENE ON CHROMOSOME 16; MTG16;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 4; ZMYND4;; ETO2 Asterisk 603871 BY THE RIBOSOMAL PROTEIN S6 GENE, DROSOPHILA, HOMOLOG-LIKE; BYSL BYSTIN;; ENP1 Asterisk 603872 TROPHININ-ASSOCIATED PROTEIN; TROAP TROPHININ-ASSISTING PROTEIN;; TASTIN Asterisk 603873 PHOSPHOLIPASE A2-ACTIVATING PROTEIN; PLAA PLAP Asterisk 603874 ANGIOPOIETIN-LIKE 1; ANGPTL1 ANGIOPOIETIN 3, FORMERLY; ANGPT3, FORMERLY; ANG3, FORMERLY Asterisk 603875 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 8; TNFSF8 CD30 LIGAND; CD30L; CD30LG;; CD153 Asterisk 603876 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 4; ADAMTS4 AGGRECANASE 1 Asterisk 603877 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 3; SLC16A3 MONOCARBOXYLATE TRANSPORTER 4; MCT4 Asterisk 603878 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 4; SLC16A4 MONOCARBOXYLATE TRANSPORTER 5; MCT5 Asterisk 603879 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 5; SLC16A5 MONOCARBOXYLATE TRANSPORTER 6; MCT6 Asterisk 603880 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 6; SLC16A6 MONOCARBOXYLATE TRANSPORTER 7; MCT7 Asterisk 603881 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 3; NR1I3 CONSTITUTIVE ANDROSTANE RECEPTOR, BETA;; CAR-BETA;; CAR;; MB67 Asterisk 603882 BCL2-ASSOCIATED ATHANOGENE 2; BAG2 Asterisk 603883 BCL2-ASSOCIATED ATHANOGENE 3; BAG3 Asterisk 603884 BCL2-ASSOCIATED ATHANOGENE 4; BAG4 SILENCER OF DEATH DOMAINS; SODD Asterisk 603885 BCL2-ASSOCIATED ATHANOGENE 5; BAG5 Asterisk 603886 ARTEMIN; ARTN NEUBLASTIN;; ENOVIN Asterisk 603887 TIMELESS, DROSOPHILA, HOMOLOG OF; TIMELESS TIM; TIM1 Asterisk 603888 POTASSIUM CHANNEL, VOLTAGE-GATED, DELAYED-RECTIFIER, SUBFAMILY S, MEMBER 3; KCNS3 VOLTAGE-GATED POTASSIUM CHANNEL 9.3; KV9.3 Asterisk 603889 SIGNAL REGULATORY PROTEIN, BETA-1; SIRPB1 Asterisk 603890 UBIQUITIN-CONJUGATING ENZYME E2L 6; UBE2L6 UBIQUITIN-CONJUGATING ENZYME UBCH8; UBCH8 Asterisk 603891 FIBROBLAST GROWTH FACTOR 19; FGF19 Asterisk 603892 ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2 U5 snRNP-SPECIFIC PROTEIN, 116-KD;; U5-116KD;; KIAA0031 Asterisk 603893 TRAF FAMILY MEMBER-ASSOCIATED NF-KAPPA-B ACTIVATOR; TANK TRAF-INTERACTING PROTEIN; ITRAF Asterisk 603894 REGULATOR OF G PROTEIN SIGNALING 6; RGS6 Asterisk 603895 REGULATOR OF G PROTEIN SIGNALING 11; RGS11 Number Sign 603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION; CACH;; VANISHING WHITE MATTER LEUKODYSTROPHY;; CREE LEUKOENCEPHALOPATHY; CLE VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED;; OVARIOLEUKODYSTROPHY, INCLUDED Asterisk 603897 MATRILIN 4; MATN4 Asterisk 603898 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 18; TNFSF18 AITR LIGAND; AITRL;; GITR LIGAND; GITRL Asterisk 603899 ZINC FINGER PROTEIN 85; ZNF85 Asterisk 603900 ZINC FINGER PROTEIN 174; ZNF174 Asterisk 603901 ZPR1 ZINC FINGER; ZPR1 ZINC FINGER PROTEIN 259; ZNF259 Number Sign 603902 BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE Number Sign 603903 SICKLE CELL ANEMIA Asterisk 603904 INTEGRAL MEMBRANE PROTEIN 2B; ITM2B BRI;; BRI2 Asterisk 603905 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 18; TNFRSF18 ACTIVATION-INDUCIBLE TNFR FAMILY MEMBER; AITR;; GLUCOCORTICOID-INDUCED TNFR-RELATED GENE; GITR Asterisk 603906 CHLORIDE CHANNEL ACCESSORY 1; CLCA1 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 1;; CALCIUM-ACTIVATED CHLORIDE CHANNEL 1; CACC1;; GOB5 Asterisk 603907 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 1; EIF2S1 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA;; EIF2-ALPHA Asterisk 603908 EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 2; EIF2S2 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-BETA Number Sign 603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II; ALPS2 Asterisk 603910 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT J; EIF3J EIF3-p35;; EIF3-ALPHA;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 1, FORMERLY; EIF3S1, FORMERLY Asterisk 603911 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT I; EIF3I TGF-BETA RECEPTOR-INTERACTING PROTEIN 1; TRIP1;; EIF3-p36;; EIF3-BETA;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 2, FORMERLY; EIF3S2, FORMERLY Asterisk 603912 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT H; EIF3H EIF3-p40;; EIF3-GAMMA;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 3, FORMERLY; EIF3S3, FORMERLY Asterisk 603913 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT G; EIF3G EIF3-p42;; EIF3-p44;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 4, FORMERLY; EIF3S4, FORMERLY Asterisk 603914 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT F; EIF3F EIF3-p47;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 5, FORMERLY; EIF3S5, FORMERLY Asterisk 603915 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT D; EIF3D EIF3-p66;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 7, FORMERLY; EIF3S7, FORMERLY Asterisk 603916 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT C; EIF3C EIF3-p110;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 8, FORMERLY; EIF3S8, FORMERLY Asterisk 603917 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT B; EIF3B PROTEIN SYNTHESIS DEFECTIVE AT 36 DEGREES CELSIUS 1, S. CEREVISIAE, HOMOLOG OF; PRT1;; EIF3-p116;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 9, FORMERLY; EIF3S9, FORMERLY Percent 603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1 HYT1 Asterisk 603919 SERINE/THREONINE PROTEIN KINASE 10; STK10 LOK;; POLO-LIKE KINASE KINASE 1, XENOPUS, HOMOLOG OF; PLKK1;; AT1-46, RAT, HOMOLOG OF Asterisk 603920 CRYSTALLIN, ZETA-LIKE 1; CRYZL1 QUINONE OXIDOREDUCTASE-LIKE 1 Asterisk 603921 SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; SUCLA2 ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT;; A-BETA Asterisk 603922 SUCCINATE-CoA LIGASE, GDP-FORMING, BETA SUBUNIT; SUCLG2 GTP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT;; G-BETA Caret 603923 MOVED TO 139260 Asterisk 603924 HYALURONAN-BINDING PROTEIN 2; HABP2 HYALURONIC ACID-BINDING PROTEIN 2; HABP2;; HYALURONAN-BINDING PROTEIN, PLASMA; PHBP;; HEPATOCYTE GROWTH FACTOR ACTIVATOR-LIKE; HGFAL;; FACTOR VII-ACTIVATING PROTEASE; FSAP Asterisk 603925 SYNAPTOGYRIN 1; SYNGR1 Asterisk 603926 SYNAPTOGYRIN 2; SYNGR2 CELLUGYRIN Asterisk 603927 SYNAPTOGYRIN 3; SYNGR3 Asterisk 603928 EUKARYOTIC TRANSLATION INITIATION FACTOR 4B; EIF4B Asterisk 603929 EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 3; EIF4G3 EIF4GII Asterisk 603930 GEPHYRIN; GPHN GPH; GEPH;; KIAA1385 MLL/GPHN FUSION GENE, INCLUDED Asterisk 603931 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E1; ATP6V0E1 ATP6V0E;; ATPase, H+ TRANSPORTING, LYSOSOMAL, SUBUNIT H; ATP6H Number Sign 603932 INTERVERTEBRAL DISC DISEASE; IDD LUMBAR DISC DISEASE, INCLUDED; LDD, INCLUDED;; LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO, INCLUDED;; LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO, INCLUDED Number Sign 603933 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1; MVCD1 PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, INCLUDED;; MICROVASCULAR COMPLICATIONS OF DIABETES, PROTECTION AGAINST, INCLUDED;; NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED;; NEUROPATHY, DIABETIC, SUSCEPTIBILITY TO, INCLUDED Asterisk 603934 COACTIVATOR-ASSOCIATED ARGININE METHYLTRANSFERASE 1; CARM1 PROTEIN ARGININE N-METHYLTRANSFERASE 4; PRMT4 Percent 603935 PSORIASIS 4, SUSCEPTIBILITY TO; PSORS4 Asterisk 603936 GROWTH/DIFFERENTIATION FACTOR 11; GDF11 BONE MORPHOGENETIC PROTEIN 11; BMP11 Asterisk 603937 RP1 GENE; RP1 OXYGEN-REGULATED PHOTORECEPTOR PROTEIN 1; ORP1 Caret 603938 MOVED TO 300205 Asterisk 603939 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 6; KCNK6 POTASSIUM CHANNEL, WEAKLY INWARD-RECTIFYING, WITH TWIN P DOMAINS, 2; TWIK2;; TWIK-ORIGINATED SIMILARITY SEQUENCE; TOSS Asterisk 603940 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 7; KCNK7 Asterisk 603941 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2 THIAMINE TRANSPORTER PROTEIN 1; THTR1; THT1 Asterisk 603942 GLYCOGENIN 1; GYG1 Asterisk 603943 CYSTEINE DIOXYGENASE; CDO CYSTEINE DIOXYGENASE, TYPE I; CDO1;; L-CYSTEINE: OXYGEN OXIDOREDUCTASE Asterisk 603944 SYNTAXIN 6; STX6 Asterisk 603945 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, EPSILON;; EIF2B-EPSILON Asterisk 603946 HELICASE, LYMPHOID-SPECIFIC; HELLS LSH;; SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 6; SMARCA6;; PROLIFERATION-ASSOCIATED SNF2-LIKE GENE; PASG Asterisk 603947 METASTASIS-ASSOCIATED PROTEIN 2; MTA2 METASTASIS-ASSOCIATED 1-LIKE 1; MTA1L1;; PID Asterisk 603948 NUCLEOPORIN, 153-KD; NUP153 Asterisk 603949 RAB7-LIKE 1; RAB7L1 Asterisk 603950 N-DEACETYLASE/N-SULFOTRANSFERASE 3; NDST3 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 3;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE 3;; GlcNAc N-DEACETYLASE/N-SULFOTRANSFERASE, HEPARAN SULFATE/HEPARIN, 3 Asterisk 603951 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 1; KCNMB1 SLO-BETA Asterisk 603952 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN 1; DRG1 DEVELOPMENTALLY REGULATED GTP-BINDING PROTEIN; DRG;; NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 3; NEDD3 Asterisk 603953 POTASSIUM INWARDLY-RECTIFYING CHANNEL, SUBFAMILY J, MEMBER 14; KCNJ14 KIR2.4 Asterisk 603954 ZESTE-WHITE 10, DROSOPHILA, HOMOLOG OF; ZW10 Asterisk 603955 FLAVIN-CONTAINING MONOOXYGENASE 2; FMO2 FMO, PULMONARY Number Sign 603956 CERVICAL CANCER Asterisk 603957 FLAVIN-CONTAINING MONOOXYGENASE 5; FMO5 Asterisk 603958 REGULATORY FACTOR X, 4; RFX4 Asterisk 603959 CLAUDIN 16; CLDN16 PARACELLIN 1; PCLN1 Asterisk 603960 CALICIN; CCIN Asterisk 603961 SEMAPHORIN 3A; SEMA3A SEMAPHORIN III;; SEMAPHORIN D; SEMAD;; COLLAPSIN 1; COLL1 Asterisk 603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1 Asterisk 603963 INTEGRIN, ALPHA-9; ITGA9 ALPHA RELATED TO THE DEVELOPMENT OF LUNG CANCER;; ALPHA-RLC Percent 603964 DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16 Number Sign 603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 2 Asterisk 603966 ALDO-KETO REDUCTASE FAMILY 1, MEMBER C3; AKR1C3 ALDO-KETO REDUCTASE B; HAKRB;; DIHYDRODIOL DEHYDROGENASE 3; DD3;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE, TYPE II;; 17-BETA-HYDROXYSTEROID DEHYDROGENASE V; HSD17B5 Asterisk 603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A NAV1.4 Asterisk 603968 POLYMERASE, DNA, ETA; POLH RAD30, S. CEREVISIAE, HOMOLOG OF, A; RAD30A Asterisk 603969 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13B; TNFSF13B B-LYMPHOCYTE STIMULATOR; BLYS;; B CELL-ACTIVATING FACTOR; BAFF;; TNF- AND APOL-RELATED LEUKOCYTE EXPRESSED LIGAND 1; TALL1;; TNF HOMOLOG THAT ACTIVATES APOPTOSIS, NFKB, AND JNK; THANK Asterisk 603970 PARANEOPLASTIC MA ANTIGEN 2; PNMA2 PARANEOPLASTIC ANTIGEN MA2; MA2;; ONCONEURONAL ANTIGEN MA2;; MM2 Asterisk 603971 ZINC FINGER PROTEIN 91; ZNF91 Asterisk 603972 ZINC FINGER PROTEIN 43; ZNF43 Asterisk 603973 ZINC FINGER PROTEIN 90; ZNF90 Asterisk 603974 ZINC FINGER PROTEIN 92; ZNF92 Asterisk 603975 ZINC FINGER PROTEIN 93; ZNF93 Asterisk 603976 ZINC FINGER PROTEIN 94; ZNF94 Asterisk 603977 ZINC FINGER PROTEIN 208; ZNF208 ZINC FINGER PROTEIN 95; ZNF95 Asterisk 603978 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 12; ZSCAN12 ZINC FINGER PROTEIN 96; ZFP96; ZNF96;; KIAA0426 Asterisk 603979 ZINC FINGER PROTEIN 97; ZNF97 Asterisk 603980 ZINC FINGER PROTEIN 98; ZNF98 Asterisk 603981 ZINC FINGER PROTEIN 99; ZNF99 Asterisk 603982 ZINC FINGER PROTEIN 100; ZNF100 Asterisk 603983 ZINC FINGER PROTEIN 101; ZNF101 Asterisk 603984 ZINC FINGER PROTEIN 737; ZNF737 ZINC FINGER PROTEIN 102; ZNF102 Asterisk 603985 ZINC FINGER PROTEIN 103; ZNF103 Caret 603986 REMOVED FROM DATABASE Asterisk 603987 ZINC FINGER PROTEIN 105; ZNF105 Asterisk 603988 ZINC FINGER PROTEIN 106; ZNF106 Asterisk 603989 ZINC FINGER PROTEIN 107; ZNF107 ZFD25;; ZINC FINGER PROTEIN 588, FORMERLY; ZNF588, FORMERLY Caret 603990 REMOVED FROM DATABASE Asterisk 603991 ZINC FINGER PROTEIN 109; ZNF109 Asterisk 603992 ZINC FINGER PROTEIN 110; ZNF110 Asterisk 603993 ZINC FINGER PROTEIN 111; ZNF111 Asterisk 603994 ZINC FINGER PROTEIN 112; ZNF112 Asterisk 603995 ZINC FINGER PROTEIN 113; ZNF113 Asterisk 603996 ZINC FINGER PROTEIN 114; ZNF114 Asterisk 603997 ZINC FINGER PROTEIN 118; ZNF118 Asterisk 603998 ZINC FINGER PROTEIN 119; ZNF119 Asterisk 603999 ZINC FINGER PROTEIN 120; ZNF120 Asterisk 604000 ZINC FINGER PROTEIN 122; ZNF122 Asterisk 604001 A-KINASE ANCHOR PROTEIN 9; AKAP9 YOTIAO;; A-KINASE ANCHOR PROTEIN, 450-KD; AKAP450;; CENTROSOME- AND GOLGI-LOCALIZED PROTEIN KINASE N-ASSOCIATED PROTEIN; CGNAP AKAP9/BRAF FUSION GENE, INCLUDED Asterisk 604002 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 2; ROCK2 Asterisk 604003 CHLORIDE CHANNEL ACCESSORY 2; CLCA2 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 2;; CALCIUM-ACTIVATED CHLORIDE CHANNEL 3; CACC3 Number Sign 604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1 VACUOLATING MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS;; LVM;; VL;; LEUKOENCEPHALOPATHY WITH SWELLING AND CYSTS;; VAN DER KNAAP DISEASE Caret 604005 MOVED TO 157640 Caret 604006 REMOVED FROM DATABASE Caret 604007 REMOVED FROM DATABASE Asterisk 604008 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ZETA-2; PTPRZ2 Asterisk 604009 BAI1-ASSOCIATED PROTEIN 3; BAIAP3 BAP3 Asterisk 604010 PARANEOPLASTIC MA ANTIGEN 1; PNMA1 PARANEOPLASTIC ANTIGEN MA1; MA1;; NEURON- AND TESTIS-SPECIFIC PROTEIN 1 Plus 604011 UNC119, C. ELEGANS, HOMOLOG OF; UNC119 HUMAN RETINAL GENE 4; HRG4 CONE-ROD DYSTROPHY, INCLUDED Asterisk 604012 RNA, U20 SMALL NUCLEOLAR; RNU20 snoRNA, U20 Asterisk 604013 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 2; B4GALT2 BETA-1,4-GALACTOSYLTRANSFERASE 2;; BETA-4-GALT2 Asterisk 604014 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 3; B4GALT3 BETA-1,4-GALACTOSYLTRANSFERASE 3;; BETA-4-GALT3 Asterisk 604015 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 4; B4GALT4 BETA-1,4-GALACTOSYLTRANSFERASE 4 Asterisk 604016 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5; B4GALT5 BETA-1,4-GALACTOSYLTRANSFERASE 5 Asterisk 604017 UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6; B4GALT6 BETA-1,4-GALACTOSYLTRANSFERASE 6 Asterisk 604018 NUMB, DROSOPHILA, HOMOLOG-LIKE; NUMBL NUMB-RELATED GENE; NUMBR;; NUMBLIKE; NBL;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 23; TNRC23 Asterisk 604019 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN WITH FG REPEATS 2; AGFG2 ARFGAP WITH FG REPEATS 2;; HIV-1 REV-BINDING PROTEIN-LIKE; HRBL;; REV/REX ACTIVATION DOMAIN-BINDING PROTEIN-RELATED; RABR Asterisk 604020 BASSOON, MOUSE, HOMOLOG OF; BSN ZINC FINGER PROTEIN 231; ZNF231 Caret 604021 MOVED TO 162662 Caret 604022 MOVED TO 162662 Caret 604023 MOVED TO 162662 Asterisk 604024 SOLUTE CARRIER FAMILY 5 (SODIUM-DEPENDENT VITAMIN TRANSPORTER), MEMBER 6; SLC5A6 SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER; SMVT Asterisk 604025 AXIS INHIBITOR 2; AXIN2 CONDUCTIN, MOUSE, HOMOLOG OF Asterisk 604026 GOLGI SNAP RECEPTOR COMPLEX MEMBER 1; GOSR1 GOS28;; GOLGI SNARE, 28-KD; GS28 Asterisk 604027 GOLGI SNAP RECEPTOR COMPLEX MEMBER 2; GOSR2 GOLGI SNARE, 27-KD; GS27;; MEMBRIN Asterisk 604028 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG OF, C; SEC22C Asterisk 604029 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG-LIKE 1; SEC22L1 SEC22B Asterisk 604030 PROTEASOME SUBUNIT, BETA-TYPE, 7; PSMB7 PROTEASOME SUBUNIT Z;; PROTEASOME SUBUNIT BETA-2 Asterisk 604031 STEAROYL-CoA DESATURASE; SCD SCD1;; DELTA-9-DESATURASE Asterisk 604032 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3; EIF2AK3 PANCREATIC EIF2-ALPHA KINASE; PEK;; PERK Asterisk 604033 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 1; ERN1 INOSITOL-REQUIRING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; IRE1;; IRE1-ALPHA; IRE1A Asterisk 604034 ENDOPLASMIC RETICULUM-TO-NUCLEUS SIGNALING 2; ERN2 INOSITOL-REQUIRING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, BETA; IRE1B;; IRE1-BETA Asterisk 604035 CYLICIN 2; CYLC2 Asterisk 604036 CYCLIN A1; CCNA1 Asterisk 604037 RAS-ASSOCIATED PROTEIN RAB5C; RAB5C RAB-LIKE, FORMERLY; RABL, FORMERLY Asterisk 604038 HYALURONOGLUCOSAMINIDASE 3; HYAL3 HYALURONIDASE 3;; LUCA3 Asterisk 604039 MENINGIOMA-EXPRESSED ANTIGEN 5; MGEA5 O-LINKED N-ACETYLGLUCOSAMINASE; OGA;; O-GlcNAcase;; NUCLEAR CYTOPLASMIC O-GlcNAcase AND ACETYLTRANSFERASE; NCOAT Asterisk 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50 Asterisk 604041 MANNOSE-P-DOLICHOL UTILIZATION DEFECT 1; MPDU1 SUPPRESSOR OF LEC15; SL15;; LEC35 Asterisk 604042 INTEGRIN, ALPHA-10; ITGA10 Asterisk 604043 NEVER IN MITOSIS GENE A-RELATED KINASE 2; NEK2 NIMA-RELATED KINASE 2 Asterisk 604044 NEVER IN MITOSIS GENE A-RELATED KINASE 3; NEK3 NIMA-RELATED KINASE 3 Asterisk 604045 PROTEIN ARGININE METHYLTRANSFERASE 5; PRMT5 SHK1 KINASE-BINDING PROTEIN 1, S. POMBE, HOMOLOG OF; SKB1;; ICLN-BINDING PROTEIN, 72-KD; IBP72;; JAK-BINDING PROTEIN 1; JBP1;; HISTONE SYNTHETIC LETHAL 7, S. CEREVISIAE, HOMOLOG OF; HSL7 Asterisk 604046 OXIDATIVE STRESS-RESPONSIVE 1; OXSR1 OSR1 Asterisk 604047 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/URATE TRANSPORTER), MEMBER 13; SLC22A13 ORGANIC-CATION TRANSPORTER-LIKE 3; ORCTL3;; OCTL1 Asterisk 604048 SOLUTE CARRIER FAMILY 22, MEMBER 14; SLC22A14 ORGANIC-CATION TRANSPORTER-LIKE 4; ORCTL4;; OCTL2 Asterisk 604049 XYLULOKINASE, H. INFLUENZAE, HOMOLOG OF; XYLB Asterisk 604050 DELETED IN LUNG AND ESOPHAGEAL CANCER 1; DLEC1 DLC1 Asterisk 604051 ENDO/EXONUCLEASE, ENDOG-LIKE; EXOG ENDONUCLEASE G-LIKE 1; ENDOGL1;; ENGL Asterisk 604052 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 15; TNFSF15 TNF15;; TNF LIGAND-RELATED MOLECULE 1; TL1;; VASCULAR ENDOTHELIAL GROWTH INHIBITOR; VEGI Asterisk 604053 3-PRIME(2-PRIME),5-PRIME-BISPHOSPHATE NUCLEOTIDASE 1; BPNT1 BISPHOSPHATE 3-PRIME-NUCLEOTIDASE Asterisk 604054 ACETYL-CoA ACYLTRANSFERASE 1; ACAA1 ACETYL-CoA ACYLTRANSFERASE; ACAA;; PEROXISOMAL 3-OXOACYL-CoA THIOLASE; PTHIO; THIO;; 3-OXOACYL-CoA THIOLASE, PEROXISOMAL;; 3-KETOACYL-CoA THIOLASE, PEROXISOMAL; PTL Asterisk 604055 ISOPENTENYL-DIPHOSPHATE DELTA ISOMERASE 1; IDI1 ISOPENTENYL DIPHOSPHATE:DIMETHYLALLYL DIPHOSPHATE ISOMERASE;; IPP ISOMERASE Asterisk 604056 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 2; HS3ST2 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 2;; 3OST2 Asterisk 604057 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 3A1; HS3ST3A1 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 3A1;; 3OST3A1 Asterisk 604058 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 3B1; HS3ST3B1 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 3B1;; 3OST3B1 Asterisk 604059 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 4; HS3ST4 HEPARAN SULFATE D-GLUCOSAMINYL 3-O-SULFOTRANSFERASE 4;; 3OST4 Percent 604060 DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20 Asterisk 604061 SEPTIN 9; SEPT9 MLL SEPTIN-LIKE FUSION GENE; MSF;; MSF1;; PEANUT-LIKE 4; PNUTL4;; SINT1;; KIAA0991 Asterisk 604062 MEDIATOR COMPLEX SUBUNIT 16; MED16 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 5; THRAP5;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 95-KD; TRAP95;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 92-KD; DRIP92 Asterisk 604063 INTEGRIN, ALPHA-8; ITGA8 Asterisk 604064 ACTIVATING TRANSCRIPTION FACTOR 4; ATF4 CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN 2; CREB2;; TAX-RESPONSIVE ENHANCER ELEMENT-BINDING PROTEIN 67; TAXREB67 Asterisk 604065 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1G SUBUNIT; CACNA1G Asterisk 604066 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 5; B3GALT5 BETA-3-GALACTOSYLTRANSFERASE 5;; BETA-3-GALT5 Asterisk 604067 REGULATOR OF G PROTEIN SIGNALING 9; RGS9 Asterisk 604068 TUMOR PROTEIN D52; TPD52 D52 Asterisk 604069 TUMOR PROTEIN D52-LIKE 1; TPD52L1 D53 Asterisk 604070 DIACYLGLYCEROL KINASE, BETA, 90-KD; DGKB DGK-BETA;; DGK, 90-KD;; KIAA0718 Asterisk 604071 DIACYLGLYCEROL KINASE, ETA, 130-KD; DGKH DGK-ETA Asterisk 604072 DIACYLGLYCEROL KINASE, IOTA, 130-KD; DGKI DGK-IOTA Asterisk 604073 ZINC FINGER PROTEIN 131; ZNF131 Asterisk 604074 ZINC FINGER PROTEIN 132; ZNF132 Asterisk 604075 ZINC FINGER PROTEIN 133; ZNF133 Asterisk 604076 ZINC FINGER PROTEIN 134; ZNF134 Asterisk 604077 ZINC FINGER PROTEIN 135; ZNF135 Asterisk 604078 ZINC FINGER PROTEIN 136; ZNF136 Asterisk 604079 ZINC FINGER PROTEIN 137; ZNF137 Asterisk 604080 ZINC FINGER PROTEIN 138; ZNF138 Caret 604081 MOVED TO 601260 Asterisk 604082 ZINC FINGER PROTEIN 140; ZNF140 Asterisk 604083 ZINC FINGER PROTEIN 142; ZNF142 Asterisk 604084 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 17; ZBTB17 ZINC FINGER PROTEIN 151; ZNF151;; MYC-INTERACTING ZINC FINGER PROTEIN 1; MIZ1 Asterisk 604085 ZINC FINGER PROTEIN 154; ZNF154 Asterisk 604086 ZINC FINGER PROTEIN 155; ZNF155 Asterisk 604087 CYTOCHROME P450, FAMILY 46, SUBFAMILY A, POLYPEPTIDE 1; CYP46A1 CYTOCHROME P450, SUBFAMILY 46; CYP46;; CHOLESTEROL 24-HYDROXYLASE Asterisk 604088 PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 17; PP1R17 G-SUBSTRATE; GSBS;; CHROMOSOME 7 OPEN READING FRAME 16; C7ORF16 Asterisk 604089 HEMATOPOIETIC CELL SIGNAL TRANSDUCER; HCST DNAX-ACTIVATION PROTEIN 10; DAP10 Asterisk 604090 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 5; DLG5 PLACENTA AND PROSTATE DLG; PDLG;; KIAA0583 Number Sign 604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY HYPOALPHALIPOPROTEINEMIA, FAMILIAL; FHA;; HIGH DENSITY LIPOPROTEIN DEFICIENCY; HDLD;; FAMILIAL HDL DEFICIENCY; FHD;; HDL CHOLESTEROL, LOW SERUM; HDLC HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 13, INCLUDED; HDLCQ13, INCLUDED Asterisk 604092 TTK PROTEIN KINASE; TTK MONOPOLAR SPINDLE 1-LIKE 1; MPS1L1;; MPS1, YEAST, HOMOLOG OF; MPS1;; PHOSPHOTYROSINE-PICKED THREONINE KINASE; PYT;; ESK, MOUSE, HOMOLOG OF; ESK Number Sign 604093 KERATOSIS PILARIS ATROPHICANS; KPA Asterisk 604094 MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 2; MAD2L2 MAD2B;; REV7, S. CEREVISIAE, HOMOLOG OF; REV7 Asterisk 604095 ECTODYSPLASIN A RECEPTOR; EDAR ECTODYSPLASIN 1, ANHIDROTIC RECEPTOR;; DOWNLESS, MOUSE, HOMOLOG OF; DL;; ECTODYSPLASIN A1 ISOFORM RECEPTOR;; EDA-A1 RECEPTOR;; EDA-A1R;; EDA1R Asterisk 604096 GLUTAMATE RECEPTOR, METABOTROPIC, 6; GRM6 MGLUR6 Asterisk 604097 UROTENSIN II; UTS2 Asterisk 604098 SUPPRESSOR OF G2 ALLELE OF SKP1, S. CEREVISIAE, HOMOLOG OF; SUGT1 SGT1 Asterisk 604099 GLUTAMATE RECEPTOR, METABOTROPIC, 2; GRM2 MGLUR2 Asterisk 604100 GLUTAMATE RECEPTOR, METABOTROPIC, 4; GRM4 MGLUR4 Asterisk 604101 GLUTAMATE RECEPTOR, METABOTROPIC, 7; GRM7 MGLUR7 Asterisk 604102 GLUTAMATE RECEPTOR, METABOTROPIC, 5; GRM5 MGLUR5 Asterisk 604103 MYOTILIN; MYOT MYO;; TITIN IMMUNOGLOBULIN DOMAIN PROTEIN; TTID Asterisk 604104 GLIA MATURATION FACTOR, GAMMA; GMFG GMF-GAMMA Asterisk 604105 SYNAPTONEMAL COMPLEX PROTEIN 2; SYCP2 SCP2 Asterisk 604106 G PROTEIN-COUPLED RECEPTOR 52; GPR52 Asterisk 604107 G PROTEIN-COUPLED RECEPTOR 55; GPR55 Asterisk 604108 MICROTUBULE-ASSOCIATED PROTEIN 7; MAP7 MICROTUBULE-ASSOCIATED PROTEIN, EPITHELIAL, 115-KD; EMAP115;; ENSCONSIN, DROSOPHILA, HOMOLOG OF; ENS Asterisk 604109 HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 1; HHLA1 HERV-H LTR-ASSOCIATING 1 Asterisk 604110 ADHESION G PROTEIN-COUPLED RECEPTOR G1; ADGRG1 G PROTEIN-COUPLED RECEPTOR 56; GPR56;; 7-TRANSMEMBRANE PROTEIN WITH NO EGF-LIKE N-TERMINAL DOMAINS 1; TM7XN1 Asterisk 604111 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER 3; KCNAB3 KCNA3B;; KV-BETA-3 Asterisk 604112 SCIELLIN; SCEL Asterisk 604113 INTERLEUKIN 18-BINDING PROTEIN; IL18BP IL18BPa IL18BPb, INCLUDED;; IL18BPc, INCLUDED Asterisk 604114 PHOSPHOLIPASE C, BETA-2; PLCB2 Asterisk 604115 KCNQ1-OVERLAPPING TRANSCRIPT 1; KCNQ1OT1 LONG QT INTRONIC TRANSCRIPT 1; LIT1 Number Sign 604116 CONE-ROD DYSTROPHY 3; CORD3 Number Sign 604117 VOHWINKEL SYNDROME, VARIANT FORM VOHWINKEL SYNDROME WITH ICHTHYOSIS;; MUTILATING KERATODERMA WITH ICHTHYOSIS;; LORICRIN KERATODERMA Asterisk 604118 RAS PROTEIN ACTIVATOR-LIKE 1; RASAL1 RAS-GTPase-ACTIVATING PROTEIN-LIKE; RASAL;; RASGAP1-LIKE Asterisk 604119 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 4; SLC12A4 POTASSIUM-CHLORIDE COTRANSPORTER 1; KCC1 Caret 604120 MOVED TO 600894 Number Sign 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN Asterisk 604122 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS B PROTEIN; PIGB Asterisk 604123 RIBONUCLEASE H1; RNASEH1 H1RNA Asterisk 604124 RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8 RETINOBLASTOMA-INTERACTING AND MYOSIN-LIKE; RIM;; CTBP-INTERACTING PROTEIN; CTIP Asterisk 604125 SULFOTRANSFERASE FAMILY 2B, MEMBER 1; SULT2B1 Asterisk 604126 SUPERVILLIN; SVIL Asterisk 604127 T-BOX 15; TBX15 Asterisk 604128 TRANSCRIPTION ELONGATION FACTOR A, 3; TCEA3 Number Sign 604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA;; DEB, PRURIGINOSA Asterisk 604130 UNDIFFERENTIATED EMBRYONIC CELL TRANSCRIPTION FACTOR 1; UTF1 Number Sign 604131 ALPHA-THALASSEMIA Caret 604132 MOVED TO 300601 Caret 604133 MOVED TO 300288 Asterisk 604134 A DISINTEGRIN-LIKE AND METALLOPROTEASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 13; ADAMTS13 VON WILLEBRAND FACTOR-CLEAVING PROTEASE; VWFCP Asterisk 604135 NUCLEAR FACTOR ERYTHROID 2-LIKE 3; NFE2L3 NFE2-RELATED FACTOR 3; NRF3 Asterisk 604136 INTERLEUKIN 24; IL24 SUPPRESSION OF TUMORIGENICITY 16; ST16;; MELANOMA DIFFERENTIATION-ASSOCIATED GENE 7; MDA7 Caret 604137 MOVED TO 192150 Asterisk 604138 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER A; GPRC5A RETINOIC ACID-INDUCED 3; RAI3;; RETINOIC ACID-INDUCIBLE GENE 1; RAIG1 Asterisk 604139 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 2; DNAJB2 HEAT-SHOCK PROTEIN, DNAJ-LIKE 1; HSJ1;; HEAT-SHOCK 40-KD PROTEIN 3; HSPF3 Asterisk 604140 DEATH INDUCER-OBLITERATOR 1; DIDO1 DEATH-ASSOCIATED TRANSCRIPTION FACTOR 1; DATF1;; DIO1;; KIAA0333 Asterisk 604141 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; ARFGEF1 ADP-RIBOSYLATION FACTOR-GUANINE NUCLEOTIDE EXCHANGE PROTEIN 1; ARFGEP1;; BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 1; BIG1;; p200 Asterisk 604142 TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP DNAX-ACTIVATION PROTEIN 12; DAP12 Asterisk 604143 EXTRA SPINDLE POLES-LIKE 1; ESPL1 ESP1;; SEPARIN;; SEPARASE Asterisk 604144 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 9; SLC7A9 Number Sign 604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G Asterisk 604146 SYNAPTOTAGMIN 7; SYT7 PROSTATE CANCER-ASSOCIATED PROTEIN 7; PCANAP7;; IPCA7 Asterisk 604147 PITUITARY TUMOR-TRANSFORMING GENE 1; PTTG1 PTTG;; ESP1-ASSOCIATED PROTEIN 1; EAP1;; TUMOR-TRANSFORMING 1; TUTR1;; SECURIN Asterisk 604148 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 2; SLC13A2 SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER 1; NADC1 Asterisk 604149 SARCOGLYCAN, EPSILON; SGCE Asterisk 604150 POLYMERASE II, RNA, SUBUNIT J; POLR2J RPB11, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 13.3-KD SUBUNIT Asterisk 604151 UBIQUITIN-CONJUGATING ENZYME E2E 3; UBE2E3 UBIQUITIN-CONJUGATING ENZYME UBCH9; UBCH9;; UBCM2 Asterisk 604152 ORNITHINE DECARBOXYLASE ANTIZYME 2; OAZ2 ANTIZYME 2 Asterisk 604153 NEUROMEDIN U RECEPTOR 1; NMUR1 NMU1R;; G PROTEIN-COUPLED RECEPTOR 66; GPR66;; GROWTH HORMONE SECRETAGOGUE RECEPTOR FAMILY, MEMBER 3; FM3 NULL 604154 ALZHEIMER DISEASE WITHOUT NEUROFIBRILLARY TANGLES Asterisk 604155 LanC-LIKE 1; LANCL1 LANTHIONINE-SYNTHETASE COMPONENT C-LIKE 1 G PROTEIN-COUPLED RECEPTOR;; G PROTEIN-COUPLED RECEPTOR 69A; GPR69A Asterisk 604156 SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1 FRIZZLED-RELATED PROTEIN; FRP;; SECRETED APOPTOSIS-RELATED PROTEIN 2; SARP2 Asterisk 604157 SECRETED FRIZZLED-RELATED PROTEIN 2; SFRP2 SECRETED APOPTOSIS-RELATED PROTEIN 1; SARP1 Asterisk 604158 SECRETED FRIZZLED-RELATED PROTEIN 5; SFRP5 SECRETED APOPTOSIS-RELATED PROTEIN 3; SARP3 Asterisk 604159 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 5; SLC6A5 GLYCINE TRANSPORTER, TYPE 2; GLYT2 Asterisk 604160 INTEGRIN, BETA-8; ITGB8 Asterisk 604161 KISS1 RECEPTOR; KISS1R G PROTEIN-COUPLED RECEPTOR 54;; GPR54 METASTIN RECEPTOR Caret 604162 MOVED TO 600816 Asterisk 604163 RIBOSOMAL PROTEIN L3; RPL3 Asterisk 604164 ONE CUT HOMEOBOX 1; ONECUT1 ONE CUT DOMAIN, FAMILY MEMBER 1;; HEPATOCYTE NUCLEAR FACTOR 6-ALPHA; HNF6A;; HEPATOCYTE NUCLEAR FACTOR 6; HNF6 Asterisk 604165 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, OXOGLUTARATE CARRIER), MEMBER 11; SLC25A11 SOLUTE CARRIER FAMILY 20, MEMBER 4, FORMERLY; SLC20A4, FORMERLY;; OXOGLUTARATE CARRIER; OGC;; OXOGLUTARATE/MALATE CARRIER Asterisk 604166 RIBOSOMAL PROTEIN L7; RPL7 Asterisk 604167 CCCTC-BINDING FACTOR; CTCF TRANSCRIPTIONAL REPRESSOR CTCF Number Sign 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY Number Sign 604169 LEFT VENTRICULAR NONCOMPACTION 1; LVNC1 LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS Asterisk 604170 PHOSPHOLIPID SCRAMBLASE 1; PLSCR1 MM1 CELL-DERIVED TRANSPLANTABILITY-ASSOCIATED GENE 1b, MOUSE, HOMOLOG OF; MMTRA1B Asterisk 604171 ALY/REF EXPORT FACTOR; ALYREF TRANSCRIPTIONAL COACTIVATOR ALY; ALY;; REF;; bZIP-ENHANCING FACTOR; BEF;; THO COMPLEX, SUBUNIT 4; THOC4 NULL 604172 CARONTE CAR Number Sign 604173 POIKILODERMA WITH NEUTROPENIA; PN POIKILODERMA WITH NEUTROPENIA, CLERICUZIO-TYPE Asterisk 604174 RIBOSOMAL PROTEIN L15; RPL15 Asterisk 604175 RIBOSOMAL PROTEIN L11; RPL11 Asterisk 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3 STAT-INDUCED STAT INHIBITOR 3; SSI3;; CYTOKINE-INDUCIBLE SH2 PROTEIN 3; CIS3 Asterisk 604177 RIBOSOMAL PROTEIN L8; RPL8 Asterisk 604178 RIBOSOMAL PROTEIN L18A; RPL18A Asterisk 604179 RIBOSOMAL PROTEIN L18; RPL18 Asterisk 604180 RIBOSOMAL PROTEIN L24; RPL24 Asterisk 604181 RIBOSOMAL PROTEIN L37; RPL37 Asterisk 604182 RIBOSOMAL PROTEIN L38; RPL38 NULL 604183 CHOLESTEATOMA, CONGENITAL Asterisk 604184 PUTATIVE NEURONAL CELL ADHESION MOLECULE; PUNC Percent 604185 FACIAL PARESIS, HEREDITARY CONGENITAL, 2; HCFP2 MOEBIUS SYNDROME 3, FORMERLY; MBS3, FORMERLY;; MOBIUS SYNDROME 3, FORMERLY Asterisk 604186 CHEMOKINE, CXC MOTIF, LIGAND 14; CXCL14 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 14; SCYB14;; BRAK Number Sign 604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY Asterisk 604188 SELENIUM-BINDING PROTEIN 1; SELENBP1 METHANETHIOL OXIDASE; MTO;; SELENIUM-BINDING PROTEIN, 56-KD; SP56 Asterisk 604189 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 4; DNAJC4 HEAT-SHOCK 40-KD PROTEIN 2; HSPF2;; MCG18 Asterisk 604190 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4 ORGANIC CATION TRANSPORTER 1; OCTN1 Asterisk 604191 ZINC FINGER PROTEIN 263; ZNF263 Caret 604192 MOVED TO 603247 Asterisk 604193 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 3; SLC27A3 FATTY ACID TRANSPORT PROTEIN 3; FATP3;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 3; ACSVL3 Asterisk 604194 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4 FATTY ACID TRANSPORT PROTEIN 4; FATP4;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 5; ACSVL5 Caret 604195 MOVED TO 603314 Asterisk 604196 SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 6; SLC27A6 FATTY ACID TRANSPORT PROTEIN 6; FATP6;; VERY LONG CHAIN ACYL-CoA SYNTHETASE HOMOLOG 1; VLCSH1;; VLCS HOMOLOG 1;; ACYL-CoA SYNTHETASE VERY LONG CHAIN FAMILY, MEMBER 2; ACSVL2 Asterisk 604197 5,10-METHENYLTETRAHYDROFOLATE SYNTHETASE; MTHFS 5-FORMYLTETRAHYDROFOLATE CYCLOLIGASE Asterisk 604198 RAS-ASSOCIATED PROTEIN RAB11B; RAB11B Asterisk 604199 RAS-ASSOCIATED PROTEIN RAB35; RAB35 Asterisk 604200 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 5; SIGLEC5 CD33 ANTIGEN-LIKE 2; CD33L2;; OB-BINDING PROTEIN 2; OBBP2 Percent 604201 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION SM2 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA JAPONICUM INFECTION, INCLUDED Asterisk 604202 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29 Asterisk 604203 SYNTAXIN 8; STX8 Asterisk 604204 SYNTAXIN 17; STX17 Asterisk 604205 COPINE I; CPNE1 CPN1 Asterisk 604206 COPINE II; CPNE2 CPN2 Asterisk 604207 COPINE III; CPNE3 CPN3 Asterisk 604208 COPINE IV; CPNE4 CPN4 Asterisk 604209 COPINE V; CPNE5 CPN5 Asterisk 604210 CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1 NULL 604211 HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY Asterisk 604212 POLYADENYLATE-SPECIFIC RIBONUCLEASE; PARN POLY(A)-SPECIFIC RIBONUCLEASE;; DEADENYLATING NUCLEASE; DAN Number Sign 604213 CHUDLEY-MCCULLOUGH SYNDROME; CMCS DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS;; DEAFNESS, AUTOSOMAL RECESSIVE 82, FORMERLY; DFNB82, FORMERLY Asterisk 604214 KREV INTERACTION TRAPPED 1; KRIT1 CCM1 GENE; CCM1 Asterisk 604215 INHIBITOR OF GROWTH 2; ING2 INHIBITOR OF GROWTH 1-LIKE; ING1L;; p33ING2 Asterisk 604216 SOLUTE CARRIER FAMILY 17, MEMBER 4; SLC17A4 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 4 Asterisk 604217 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 2; SLC34A2 NaPi3B Number Sign 604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB ENCEPHALOPATHY, FAMILIAL, WITH COLLINS BODIES Number Sign 604219 CATARACT 9, MULTIPLE TYPES; CTRCT9 CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, AUTOSOMAL DOMINANT;; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATC1 Asterisk 604220 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1A; ARPC1A SOP2-LIKE; SOP2L Asterisk 604221 ACTIN-RELATED PROTEIN 2; ACTR2 ARP2 ARP2/3 COMPLEX, INCLUDED Asterisk 604222 ACTIN-RELATED PROTEIN 3; ACTR3 ARP3 Asterisk 604223 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1B; ARPC1B ACTIN-RELATED PROTEIN 2/3 COMPLEX, 41-KD SUBUNIT; ARC41;; p41-ARC;; p40-ARC Asterisk 604224 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 2; ARPC2 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 34-KD SUBUNIT; ARC34;; p34-ARC Asterisk 604225 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 3; ARPC3 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 21-KD SUBUNIT; ARC21;; p21-ARC Asterisk 604226 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 4; ARPC4 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 20-KD SUBUNIT; ARC20;; p20-ARC Asterisk 604227 ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 5; ARPC5 ACTIN-RELATED PROTEIN 2/3 COMPLEX, 16-KD SUBUNIT; ARC16;; p16-ARC Caret 604228 MOVED TO 607624 Number Sign 604229 ANTERIOR SEGMENT DYSGENESIS 5; ASGD5 Asterisk 604230 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 1; ADAT1 TAD1, S. CEREVISIAE, HOMOLOG OF; TAD1 Asterisk 604231 PITUITARY TUMOR-TRANSFORMING GENE 2; PTTG2 Number Sign 604232 LEBER CONGENITAL AMAUROSIS 3; LCA3 RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED, INCLUDED Number Sign 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1 GEFS+, TYPE 1; GEFS+1 Asterisk 604234 INTEGRIN, BETA-LIKE 1; ITGBL1 TEN BETA-INTEGRIN EGF-LIKE REPEAT DOMAINS; TIED Asterisk 604235 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 8; SLC7A8 L-TYPE AMINO ACID TRANSPORTER 2; LAT2 Caret 604236 MOVED TO 604233 Asterisk 604237 CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1 CLF1;; NR6 Asterisk 604238 SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1 Asterisk 604239 PHOSPHOSERINE PHOSPHATASE-LIKE; PSPHL CO9 Asterisk 604240 T-CELL LEUKEMIA, HOMEOBOX 2; TLX2 HOMEOBOX 11-LIKE 1; HOX11L1;; TLX2;; NCX;; ENX Asterisk 604241 CD2-ASSOCIATED PROTEIN; CD2AP CAS LIGAND WITH MULTIPLE SH3 DOMAINS; CMS Asterisk 604242 RING FINGER PROTEIN 6; RNF6 Caret 604243 MOVED TO 300594 Caret 604244 MOVED TO 300595 Caret 604245 MOVED TO 300596 Caret 604246 MOVED TO 300597 Caret 604247 MOVED TO 300598 Caret 604248 MOVED TO 300599 Asterisk 604249 RETICULON 3; RTN3 NEUROENDOCRINE-SPECIFIC PROTEIN-LIKE 2; NSPL2 Number Sign 604250 HEMOCHROMATOSIS, TYPE 3; HFE3 HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2 Asterisk 604251 CALCINEURIN-BINDING PROTEIN 1 CABIN1;; CAIN Asterisk 604252 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1 BETA-SITE APP-CLEAVING ENZYME; BACE;; SECRETASE, BETA;; MEMAPSIN 2 Asterisk 604253 CASEIN KINASE I, GAMMA-3; CSNK1G3 Percent 604254 DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3 Asterisk 604255 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 1 LBX1;; LBX1H Asterisk 604256 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E40; BHLHE40 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2;; DEC1;; STRA13, MOUSE, HOMOLOG OF;; ENHANCER OF SPLIT- AND HAIRY-RELATED PROTEIN 2, RAT, HOMOLOG OF; SHARP2 NULL 604257 CAMERA-MARUGO-COHEN SYNDROME Asterisk 604258 DELETED IN LIVER CANCER 1; DLC1 RHO GTPase-ACTIVATING PROTEIN 7; ARHGAP7 Asterisk 604259 PLEXIN C1; PLXNC1 VIRUS-ENCODED SEMAPHORIN PROTEIN RECEPTOR; VESPR Asterisk 604260 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B STAT5B/RARA FUSION GENE, INCLUDED Asterisk 604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5 APG5, S. CEREVISIAE, HOMOLOG OF; APG5;; APG5-LIKE; APG5L;; APOPTOSIS-SPECIFIC PROTEIN; ASP Asterisk 604262 AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 3; APBA3 X11-LIKE 2; X11L2;; MUNC18-1-INTERACTING PROTEIN 3, RAT, HOMOLOG OF;; MINT3, RAT, HOMOLOG OF Asterisk 604263 PRION GENE COMPLEX, DOWNSTREAM; PRND DOWNSTREAM, PRION-LIKE; DPL;; DOPPEL Asterisk 604264 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3 EPIDERMAL GROWTH FACTOR-LIKE 1; EGFL1;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 2; MEGF2;; FLAMINGO, DROSOPHILA, HOMOLOG OF, 1; FMI1 Asterisk 604265 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 2; CELSR2 EPIDERMAL GROWTH FACTOR-LIKE 2; EGFL2;; MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 3; MEGF3 Asterisk 604266 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 6; MEGF6 EPIDERMAL GROWTH FACTOR-LIKE 3, FORMERLY; EGFL3, FORMERLY Asterisk 604267 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 8; MEGF8 EPIDERMAL GROWTH FACTOR-LIKE 4, FORMERLY; EGFL4, FORMERLY Asterisk 604268 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 9; MEGF9 EPIDERMAL GROWTH FACTOR-LIKE 5, FORMERLY; EGFL5, FORMERLY Asterisk 604269 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; FAT2 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 1; MEGF1 Asterisk 604270 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 4; LRP4 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 7; MEGF7 Number Sign 604271 GROWTH HORMONE INSENSITIVITY, PARTIAL; GHIP INCREASED RESPONSIVENESS TO GROWTH HORMONE, INCLUDED Asterisk 604272 SCO2 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN; SCO2 SCO2, S. CEREVISIAE, HOMOLOG OF Number Sign 604273 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Asterisk 604274 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1 LY49, MOUSE, HOMOLOG OF;; LY49L Asterisk 604275 CATENIN, DELTA-2; CTNND2 NEURAL PLAKOPHILIN-RELATED ARMADILLO-REPEAT PROTEIN; NPRAP;; CATENIN, DELTA Asterisk 604276 PLAKOPHILIN 4; PKP4 p0071 Asterisk 604277 SPASTIN; SPAST SPG4 GENE; SPG4 Number Sign 604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION RTA, PROXIMAL, AUTOSOMAL RECESSIVE Asterisk 604279 JUNCTION-MEDIATING AND REGULATORY PROTEIN; JMY JMY Asterisk 604280 PLEXIN A4; PLXNA4 Asterisk 604281 DBF4, S. CEREVISIAE, HOMOLOG OF; DBF4 DBF4A;; ACTIVATOR OF S-PHASE KINASE; ASK;; DUMBBELL FORMER 4, S. CEREVISIAE, HOMOLOG OF Asterisk 604282 PLEXIN D1; PLXND1 Asterisk 604283 PROTEOGLYCAN 4; PRG4 MEGAKARYOCYTE-STIMULATING FACTOR; MSF;; CACP GENE; CACP;; SUPERFICIAL ZONE PROTEIN; SZP HEMANGIOPOIETIN, INCLUDED; HAPO, INCLUDED;; LUBRICIN, INCLUDED Caret 604284 MOVED TO 137920 Asterisk 604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT AGXT1;; AGT;; SERINE-PYRUVATE AMINOTRANSFERASE; SPT; SPAT Number Sign 604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E NULL 604287 CARNEY TRIAD GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA Percent 604288 CARDIOMYOPATHY, DILATED, 1H; CMD1H CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT Asterisk 604289 RAD54, S. CEREVISIAE, HOMOLOG OF, B RAD54B Number Sign 604290 ACERULOPLASMINEMIA HYPOCERULOPLASMINEMIA, INCLUDED;; CERULOPLASMIN DEFICIENCY, INCLUDED;; HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, INCLUDED NULL 604291 ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO ASCARIASIS, SUSCEPTIBILITY TO Number Sign 604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 EEC SYNDROME 3 Asterisk 604293 PLEXIN B2; PLXNB2 MM1 Asterisk 604294 VENTRAL ANTERIOR HOMEOBOX 1; VAX1 Asterisk 604295 VENTRAL ANTERIOR HOMEOBOX 2; VAX2 Asterisk 604296 GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR GLXR Asterisk 604297 SYNAPTOJANIN 1; SYNJ1 Asterisk 604298 SIGNAL TRANSDUCING ADAPTOR FAMILY MEMBER 1; STAP1 BCR DOWNSTREAM SIGNALING 1; BRDG1 Asterisk 604299 ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE ZIPPER-CONTAINING PROTEIN 1; APPL1 ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER MOTIF 1;; APPL;; DIP13-ALPHA;; AKT2 INTERACTOR Asterisk 604300 2-HYDROXYACYL-CoA LYASE 1; HACL1 2-HYDROXYPHYTANOYL-CoA LYASE;; 2-HPCL;; HPCL2 Asterisk 604301 OCULOMEDIN; OCLM TRABECULAR MESHWORK-INDUCIBLE STRETCH RESPONSE; TISR Number Sign 604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE SYSTEMIC JUVENILE RHEUMATOID ARTHRITIS Asterisk 604303 ACTIN-LIKE 7A; ACTL7A Asterisk 604304 ACTIN-LIKE 7B; ACTL7B Asterisk 604305 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-1; HLA-DQB1 Asterisk 604306 FAS APOPTOTIC INHIBITORY MOLECULE 2; FAIM2 LIFEGUARD; LFG;; NEUROMEMBRANE PROTEIN 35; NMP35 Number Sign 604307 CATARACT 2, MULTIPLE TYPES; CTRCT2 CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, COPPOCK-LIKE; CCL Number Sign 604308 MASS SYNDROME MASS PHENOTYPE;; OVERLAP CONNECTIVE TISSUE DISEASE; OCTD Asterisk 604309 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 4; SLC13A4 SULFATE TRANSPORTER 1; SUT1 Asterisk 604310 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 6; BLOC1S6 BLOC1, SUBUNIT 6; BLOS6;; PALLIDIN; PLDN;; PA;; PALLID, MOUSE, HOMOLOG OF;; HPS9 GENE; HPS9 Asterisk 604311 MEDIATOR COMPLEX SUBUNIT 1; MED1 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP;; PPAR-BINDING PROTEIN; PBP;; COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 1; CRSP1;; CRSP, 200-KD SUBUNIT; CRSP200;; THYROID HORMONE RECEPTOR INTERACTOR 2; TRIP2;; TRAP220;; RECOGNIZED BY PAb1801 MONOCLONAL ANTIBODY; RB18A;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 230-KD; DRIP230;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 205-KD; DRIP205 Asterisk 604312 CYSTATIN 3; CST3 CYSTATIN C;; GAMMA-TRACE Asterisk 604313 GALACTOKINASE 1; GALK1 GALK;; GK1 Percent 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE NULL 604315 ANEMIA, CONGENITAL HYPOPLASTIC, WITH MULTIPLE CONGENITAL ANOMALIES/MENTAL RETARDATION SYNDROME Percent 604316 PSORIASIS 5, SUSCEPTIBILITY TO; PSORS5 Number Sign 604317 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2 Asterisk 604318 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1 GENERAL TRANSCRIPTION FACTOR II-I REPEAT DOMAIN-CONTAINING PROTEIN 1;; GENERAL TRANSCRIPTION FACTOR III; GTF3;; MUSCLE TFII-I REPEAT DOMAIN-CONTAINING PROTEIN 1; MUSTRD1;; WBSCR11;; BINDING FACTOR FOR EARLY ENHANCER; BEN Asterisk 604319 TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2 TIN2 Number Sign 604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1;; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI; DHMN6;; HMN6;; HMN VI;; SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE; SIANRF;; NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE;; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC Number Sign 604321 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4 Asterisk 604322 SOLUTE CARRIER FAMILY 17 (ACIDIC SUGAR TRANSPORTER), MEMBER 5; SLC17A5 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 5;; SIALIN Asterisk 604323 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 3; ABCC3 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 3; MRP3;; CANALICULAR MULTISPECIFIC ORGANIC ANION TRANSPORTER 2; CMOAT2 NULL 604324 ACNE, ADULT Asterisk 604325 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B PP2APR55-BETA;; PP2AB55-BETA;; PP2AB-BETA;; PR55-BETA;; B55-BETA Number Sign 604326 SPINOCEREBELLAR ATAXIA 12; SCA12 Asterisk 604327 BETA-1,4-GALACTOSYLTRANSFERASE 7; B4GALT7 XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE, POLYPEPTIDE 7;; XGPT1; XGALT1;; GALACTOSYLTRANSFERASE I Asterisk 604328 STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1 CHROMATIN-SPECIFIC TRANSCRIPTION ELONGATION FACTOR, 80-KD SUBUNIT;; FACT, 80-KD SUBUNIT Percent 604329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2 HYT2 Asterisk 604330 GRB2-RELATED ADAPTOR PROTEIN; GRAP GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2-RELATED ADAPTOR PROTEIN Asterisk 604331 INTEGRATOR COMPLEX SUBUNIT 6; INTS6 DEAD/H BOX 26; DDX26;; DELETED IN CANCER 1; DICE1;; INT6 Asterisk 604332 CYSTEINE-RICH HYDROPHOBIC DOMAIN PROTEIN 2; CHIC2 BRX-LIKE GENE TRANSLOCATED IN LEUKEMIA; BTL BTL/ETV6 FUSION GENE, INCLUDED Asterisk 604333 WD40 REPEAT-CONTAINING PROTEIN CIAO1; CIAO1 CIA1;; WD REPEAT-CONTAINING PROTEIN 39; WDR39 Asterisk 604334 UBIQUITIN-SPECIFIC PROTEASE 6; USP6 TRE2 ONCOGENE; TRE2 NULL 604335 REFLEX SYMPATHETIC DYSTROPHY Asterisk 604336 TRANSMEMBRANE PHOSPHATASE WITH TENSIN HOMOLOGY; TPTE Asterisk 604337 CHLORIDE CHANNEL ACCESSORY 3, PSEUDOGENE; CLCA3P CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 3; CLCA3 Caret 604338 REMOVED FROM DATABASE Caret 604339 REMOVED FROM DATABASE Caret 604340 REMOVED FROM DATABASE Caret 604341 REMOVED FROM DATABASE Caret 604342 REMOVED FROM DATABASE Caret 604343 REMOVED FROM DATABASE Asterisk 604344 MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 1; MAN1A1 Asterisk 604345 MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 2; MAN1A2 Asterisk 604346 MANNOSIDASE, ALPHA, CLASS 1B, MEMBER 1; MAN1B1 Asterisk 604347 ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 2; ZRANB2 ZINC FINGER RAN-BINDING DOMAIN-CONTAINING PROTEIN 2;; ZINC FINGER PROTEIN 265; ZNF265;; ZINC FINGER, SPLICING; ZIS Number Sign 604348 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1; FASPS1 Asterisk 604349 LAMININ, GAMMA-3; LAMC3 Asterisk 604350 RAS-ASSOCIATED PROTEIN RAB3D; RAB3D GLIOBLASTOMA OVEREXPRESSED; GOV Asterisk 604351 PHD FINGER PROTEIN 2; PHF2 Number Sign 604352 FEBRILE SEIZURES, FAMILIAL, 4; FEB4 CONVULSIONS, FAMILIAL FEBRILE, 4 Asterisk 604353 CYSTEINE- AND HISTIDINE-RICH DOMAIN-CONTAINING PROTEIN 1; CHORDC1 CHORD DOMAIN-CONTAINING PROTEIN 1; CHP1 Asterisk 604354 NUCLEAR FMRP-INTERACTING PROTEIN 1; NUFIP1 NUCLEAR FMRP-INTERACTING PROTEIN; NUFIP Asterisk 604355 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2; COPG2 COAT PROTEIN, NONCLATHRIN, GAMMA-2 Number Sign 604356 DUANE RETRACTION SYNDROME 2; DURS2 Asterisk 604357 MAB21, C. ELEGANS, HOMOLOG-LIKE 2; MAB21L2 Asterisk 604358 STROMAL ANTIGEN 1; STAG1 COHESIN SUBUNIT SA1 Caret 604359 MOVED TO 300826 Number Sign 604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM;; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM;; HSP-TCC Caret 604361 MOVED TO 600638 Asterisk 604362 LIM DOMAIN ONLY 7; LMO7 F-BOX ONLY PROTEIN 20; FBXO20;; FBX20;; KIAA0858 NULL 604363 MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS Number Sign 604364 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI; FFEVF;; EPILEPSY, PARTIAL, WITH VARIABLE FOCI; FPEVF Asterisk 604365 PROMININ 1; PROM1 PROMININ, MOUSE, HOMOLOG-LIKE 1; PROML1;; AC133;; CD133 ANTIGEN; CD133 Asterisk 604366 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1 Number Sign 604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS Asterisk 604368 GLYCOPROTEIN NMB; GPNMB NMB Number Sign 604369 SALLA DISEASE; SD SIALURIA, FINNISH TYPE Number Sign 604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED;; OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, INCLUDED Asterisk 604371 HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 2; HHLA2 HERV-H LTR-ASSOCIATING 2;; B7 HOMOLOG 5; B7H5;; B7 HOMOLOG 7; B7H7 Asterisk 604372 HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 3; HHLA3 HERV-H LTR-ASSOCIATING 3 Plus 604373 CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2 CHK2;; RAD53, S. CEREVISIAE, HOMOLOG OF; RAD53;; CDS1, S. POMBE, HOMOLOG OF BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO, INCLUDED;; HBCC, SUSCEPTIBILITY TO, INCLUDED Asterisk 604374 METALLOTHIONEIN-LIKE 5, TESTIS-SPECIFIC; MTL5 TESTIS-SPECIFIC METALLOTHIONEIN-LIKE PROTEIN; TESMIN Asterisk 604375 HUMAN GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HGS HEPATOCYTE GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HRS;; HGF-REGULATED TYROSINE KINASE SUBSTRATE Asterisk 604376 MYELIN PROTEIN ZERO-LIKE 1; MPZL1 PROTEIN ZERO-RELATED; PZR Number Sign 604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1 CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Asterisk 604378 BECLIN 1; BECN1 Number Sign 604379 HYPOTRICHOSIS 7; HYPT7 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2; LAH2;; HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH;; HYPOTRICHOSIS, TOTAL, MARI TYPE WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED; ARWH2, INCLUDED;; WH/HT, INCLUDED NULL 604380 ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA NULL 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES NULL 604382 LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA Asterisk 604383 GROWTH FACTOR-INDEPENDENT 1B; GFI1B Asterisk 604384 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1 ATPase, Ca(2+)-SEQUESTERING;; SECRETORY PATHWAY Ca(2+) ATPase 1; SPCA1;; PMR1, RAT, HOMOLOG OF;; KIAA1347 Asterisk 604385 SODIUM CHANNEL, VOLTAGE-GATED, TYPE XI, ALPHA SUBUNIT; SCN11A NAV1.9 Asterisk 604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1 TRPS1 GENE Number Sign 604387 NEPHRONOPHTHISIS 3; NPHP3 NPH3 Asterisk 604388 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-4; GNG4 Asterisk 604389 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-10; GNG10 Asterisk 604390 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-11; GNG11 Number Sign 604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1 ATLD Asterisk 604392 ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1 Number Sign 604393 LEBER CONGENITAL AMAUROSIS 4; LCA4 RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED, INCLUDED;; CONE-ROD DYSTROPHY, AIPL1-RELATED, INCLUDED Asterisk 604394 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12; GNA12 Asterisk 604395 MutL, E. COLI, HOMOLOG OF, 3; MLH3 Asterisk 604396 SET DOMAIN PROTEIN, BIFURCATED, 1; SETDB1 ERG-ASSOCIATED PROTEIN WITH SET DOMAIN; ESET;; KIAA0067 Asterisk 604397 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-14; GNA14 Asterisk 604398 SECRETOGLOBIN, FAMILY 2A, MEMBER 1; SCGB2A1 MAMMAGLOBIN 2; MGB2;; MAMMAGLOBIN B;; LACRYGLOBIN;; LIPOPHILIN C; LPNC Asterisk 604399 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1B; PPP1R1B DOPAMINE- AND cAMP-REGULATED PHOSPHOPROTEIN, 32-KD; DARPP32 Number Sign 604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 5; ARVC5 Percent 604401 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 6; ARVC6 Asterisk 604402 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 5; ST3GAL5 SIALYLTRANSFERASE 9; SIAT9;; CMP-NeuAc:LACTOSYLCERAMIDE ALPHA-2,3-SIALYLTRANSFERASE;; ALPHA-2,3-SIALYLTRANSFERASE V; ST3GALV;; GM3 SYNTHASE;; SATI Number Sign 604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 GEFS+, TYPE 2; GEFS+2 FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED; FEB3A, INCLUDED Asterisk 604404 GLYPICAN 6; GPC6 Asterisk 604405 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6; SIGLEC6 CD33 ANTIGEN-LIKE; CD33L;; CD33 ANTIGEN-LIKE 1; CD33L1;; OB-BINDING PROTEIN 1; OBBP1 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6, MEMBRANE-BOUND, INCLUDED;; CD33 ANTIGEN-LIKE, MEMBRANE-BOUND, INCLUDED;; SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6, SOLUBLE, INCLUDED;; CD33 ANTIGEN-LIKE, SOLUBLE, INCLUDED Asterisk 604406 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13 G-ALPHA-13 Asterisk 604407 LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1 Caret 604408 MOVED TO 600610 Asterisk 604409 GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 1; GMEB1 PARVOVIRUS INITIATION FACTOR, p96 SUBUNIT Asterisk 604410 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 7; SIGLEC7 ADHESION INHIBITORY RECEPTOR MOLECULE 1; AIRM1;; p75 Asterisk 604411 INNER CENTROMERE PROTEIN; INCENP Asterisk 604412 T-CELL LEUKEMIA/LYMPHOMA 6; TCL6 TCL1-NEIGHBORING GENE 1; TNG1;; TCL1-NEIGHBORING GENE 2; TNG2 Caret 604413 MOVED TO 604412 Asterisk 604414 POLYMERASE II, RNA, SUBUNIT F; POLR2F RPB6, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 14.4-KD SUBUNIT Asterisk 604415 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE; STEAP STEAP1 Number Sign 604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE PAPA SYNDROME; PAPAS;; FAMILIAL RECURRENT ARTHRITIS; FRA Asterisk 604417 AF4/FMR2 FAMILY, MEMBER 4; AFF4 ALL1-FUSED GENE FROM CHROMOSOME 5q31; AF5Q31 Asterisk 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6 CONNEXIN 30; CX30 Asterisk 604419 POLYMERASE, DNA, THETA; POLQ Asterisk 604420 HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX PRHX; PRH Asterisk 604421 PHOSDUCIN-LIKE; PDCL Asterisk 604422 PANCREATIC LIPASE-RELATED PROTEIN 1; PNLIPRP1 PLRP1 Asterisk 604423 PANCREATIC LIPASE-RELATED PROTEIN 2; PNLIPRP2 PLRP2 Asterisk 604424 HOMEODOMAIN-INTERACTING PROTEIN KINASE 3; HIPK3 PKY;; DYRK6;; FAS-INTERACTING SERINE/THREONINE PROTEIN KINASE; FIST Asterisk 604425 LIM HOMEOBOX GENE 8; LHX8 LHX7 Asterisk 604426 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 2; CYP4F2 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 2;; LEUKOTRIENE B4 OMEGA-HYDROXYLASE, LIVER;; LTB4 OMEGA-HYDROXYLASE, LIVER Asterisk 604427 SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A NAV1.8;; PN3;; SENSORY NEURON-SPECIFIC SODIUM CHANNEL; SNS Caret 604428 MOVED TO 300935 Asterisk 604429 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 2; PRRG2 PROLINE-RICH GLA PROTEIN 2; PRGP2 Asterisk 604430 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-7; GNG7 Percent 604431 POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE Number Sign 604432 SPINOCEREBELLAR ATAXIA 11; SCA11 Asterisk 604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3; KCNE3 MINIMUM POTASSIUM ION CHANNEL-RELATED PEPTIDE 2; MIRP2;; MINK-RELATED PEPTIDE 2 Asterisk 604434 KALLIKREIN-RELATED PEPTIDASE 11; KLK11 KALLIKREIN 11;; PROTEASE, SERINE, 20; PRSS20;; TRYPSIN-LIKE SERINE PROTEASE; TLSP Caret 604435 MOVED TO 164010 Asterisk 604436 PYRIDOXAL PHOSPHATE-BINDING PROTEIN; PLPBP PROLINE SYNTHETASE COTRANSCRIBED, BACTERIA, HOMOLOG OF; PROSC Asterisk 604437 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3 TRANSPORT SYSTEM N, PROTEIN 1; SN1;; G17;; N-SYSTEM AMINO ACID TRANSPORTER 1; NAT1 Asterisk 604438 KALLIKREIN-RELATED PEPTIDASE 7; KLK7 KALLIKREIN 7;; PROTEASE, SERINE, 6; PRSS6;; STRATUM CORNEUM CHYMOTRYPTIC ENZYME; SCCE Asterisk 604439 GRB2-ASSOCIATED BINDING PROTEIN 1; GAB1 Asterisk 604440 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR A; CIDEA Asterisk 604441 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR B; CIDEB Caret 604442 MOVED TO 144700 Asterisk 604443 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 6; ACSL6 FATTY ACID CoA LIGASE, LONG CHAIN 6; FACL6;; LONG CHAIN ACYL-CoA SYNTHETASE 2; LACS2;; LONG CHAIN ACYL-CoA SYNTHETASE 5; LACS5;; ACYL-CoA SYNTHETASE 2; ACS2;; KIAA0837 ACS2/ETV6 FUSION GENE, INCLUDED Asterisk 604444 BMP AND ACTIVIN MEMBRANE-BOUND INHIBITOR, XENOPUS, HOMOLOG OF; BAMBI NEUROMEDIN A; NMA Asterisk 604445 PROTEASE INHIBITOR 13; PI13 SERINE PROTEASE INHIBITOR, CLADE B, MEMBER 13; SERPINB13;; HURPIN;; HEADPIN Asterisk 604446 PHOSPHOTRIESTERASE-RELATED PROTEIN; PTER Asterisk 604447 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5 GB5 Asterisk 604448 CYTOHESIN 1-INTERACTING PROTEIN; CYTIP CYTH1-INTERACTING PROTEIN;; PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN-BINDING PROTEIN; PSCDBP;; CYTOHESIN-BINDING PROTEIN; HE;; CYTOHESIN BINDER AND REGULATOR; CYBR Asterisk 604449 PROTEASOME 26S SUBUNIT, NON-ATPase, 11; PSMD11 PROTEASE 26S, SUBUNIT 9; S9;; p44.5 Asterisk 604450 PROTEASOME 26S SUBUNIT, NON-ATPase, 12; PSMD12 p55;; RPN5 NULL 604451 BASAL CELL CARCINOMA, INFUNDIBULOCYSTIC BASAL CELL CARCINOMA WITH FOLLICULAR DIFFERENTIATION Asterisk 604452 PROTEASOME 26S SUBUNIT, NON-ATPase, 5; PSMD5 PROTEASE 26S, SUBUNIT 5B; S5B Asterisk 604453 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2 FETOPROTEIN TRANSCRIPTION FACTOR; FTF;; HUMAN B1-BINDING FACTOR; HB1F;; CYP7A PROMOTER-BINDING FACTOR; CPF;; LIVER RECEPTOR HOMOLOG 1; LRH1 Number Sign 604454 WELANDER DISTAL MYOPATHY; WDM MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT;; MYOPATHY, DISTAL, SWEDISH Asterisk 604455 SARCOSINE DEHYDROGENASE; SARDH SDH Asterisk 604456 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 1; IFITM1 INTERFERON-INDUCED PROTEIN 17; IFI17;; LEU13;; CD225 Asterisk 604457 NUCLEAR BODY PROTEIN SP110; SP110 SPECKLED, 110-KD;; INTRACELLULAR PATHOGEN RESISTANCE 1, MOUSE, HOMOLOG OF; IPR1 INTERFERON-INDUCED PROTEIN 41, INCLUDED; IFI41, INCLUDED;; INTERFERON-INDUCED PROTEIN 75, INCLUDED; IFI75, INCLUDED Caret 604458 MOVED TO 604457 Asterisk 604459 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE M; IRAKM Asterisk 604460 FAS-ASSOCIATED FACTOR 1; FAF1 HFAF1 Asterisk 604461 HUMAN PAPILLOMAVIRUS TYPE 6A INTEGRATION SITE 1; HPV6AI1 Asterisk 604462 SEMAPHORIN 4C; SEMA4C SEMAPHORIN F; SEMAF;; KIAA1739 Asterisk 604463 CD160 ANTIGEN; CD160 NATURAL KILLER CELL RECEPTOR BY55; BY55 Asterisk 604464 INTERSECTIN 2; ITSN2 SH3 DOMAIN PROTEIN 1B; SH3D1B;; SWA;; KIAA1256 Asterisk 604465 SH3 DOMAIN, GRB2-LIKE, 2; SH3GL2 SH3p4;; ENDOPHILIN 1;; ENDOPHILIN A1 Asterisk 604466 METHYLTRANSFERASE-LIKE 1; METTL1 Asterisk 604467 MONOCYTE-TO-MACROPHAGE DIFFERENTIATION-ASSOCIATED PROTEIN; MMD MMD1;; PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 11; PAQR11 Asterisk 604468 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 6; MAP3K6 MAPKKK6;; APOPTOSIS SIGNAL-REGULATING KINASE 2; ASK2 Asterisk 604469 EXOCYST COMPLEX COMPONENT 5; EXOC5 SEC10, S. CEREVISIAE, HOMOLOG OF;; SEC10-LIKE 1; SEC10L1 Asterisk 604470 CD2 ANTIGEN-BINDING PROTEIN 2; CD2BP2 Asterisk 604471 SOLUTE CARRIER FAMILY 1 (GLUTAMATE TRANSPORTER), MEMBER 7; SLC1A7 EXCITATORY AMINO ACID TRANSPORTER 5; EAAT5;; GLUTAMATE TRANSPORTER, RETINA Asterisk 604472 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13 APRIL;; TNF- AND APOL-RELATED LEUKOCYTE EXPRESSED LIGAND 2; TALL2 Asterisk 604473 GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1 MGLUR1;; GRM1-ALPHA; GRM1A;; MGLUR1-ALPHA; MGLUR1A NULL 604474 HUMAN HERPESVIRUS TYPE 6, INTEGRATED Asterisk 604475 RETICULON 4; RTN4 NEURITE OUTGROWTH INHIBITOR; NOGO NOGOA, INCLUDED;; NOGOB, INCLUDED;; NOGOC, INCLUDED;; NEURITE GROWTH INHIBITOR 220, INCLUDED; NI220, INCLUDED;; NI220/250, INCLUDED Caret 604476 MOVED TO 604350 Asterisk 604477 CHROMOBOX HOMOLOG 3; CBX3 HP1, DROSOPHILA, HOMOLOG OF, GAMMA;; HP1-GAMMA Asterisk 604478 CHROMOBOX HOMOLOG 5; CBX5 HP1, DROSOPHILA, HOMOLOG OF, ALPHA;; HP1-ALPHA;; HETEROCHROMATIN PROTEIN 1; HP1 Asterisk 604479 SIRTUIN 1; SIRT1 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 1; SIR2L1;; SIR2-ALPHA;; HST2, S. CEREVISIAE, HOMOLOG OF Asterisk 604480 SIRTUIN 2; SIRT2 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 2; SIR2L2;; SIR2L Asterisk 604481 SIRTUIN 3; SIRT3 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 3; SIR2L3 Asterisk 604482 SIRTUIN 4; SIRT4 SIR2-LIKE 4; SIR2L4 Asterisk 604483 SIRTUIN 5; SIRT5 SIR2, S. CEREVISIAE, HOMOLOG-LIKE 5; SIR2L5 Number Sign 604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE; HMSNO HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE, FORMERLY; HMSNP, FORMERLY Asterisk 604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3 PHOTORECEPTOR-SPECIFIC NUCLEAR RECEPTOR; PNR Asterisk 604486 PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF CYCLOPHILIN 3; CYP3;; CYCLOPHILIN F Asterisk 604487 OTOGELIN; OTOG OTGN Asterisk 604488 TITIN-CAP; TCAP TELETHONIN Asterisk 604489 ALPHA-METHYLACYL-CoA RACEMASE; AMACR Asterisk 604490 SACSIN; SACS Asterisk 604491 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB Asterisk 604492 VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1 PORIN;; OMP2, YEAST, HUMAN COMPLEMENT OF Asterisk 604493 GAP JUNCTION PROTEIN, BETA-5; GJB5 CONNEXIN 31.1; CX31.1 Asterisk 604494 INTERLEUKIN 18 RECEPTOR 1; IL18R1 INTERLEUKIN 18 RECEPTOR, ALPHA CHAIN; IL18RA;; IL1 RECEPTOR-RELATED PROTEIN; IL1RRP Asterisk 604495 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, BETA; NFKBIB INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, BETA;; I-KAPPA-B-BETA; IKBB;; THYROID HORMONE RECEPTOR INTERACTOR 9; TRIP9 Asterisk 604496 NFKB INHIBITOR-INTERACTING RAS-LIKE PROTEIN 1; NKIRAS1 I-KAPPA-B-INTERACTING RAS-LIKE PROTEIN 1;; KAPPA-B-RAS1;; KBRAS1 Asterisk 604497 NFKB INHIBITOR-INTERACTING RAS-LIKE PROTEIN 2; NKIRAS2 I-KAPPA-B-INTERACTING RAS-LIKE PROTEIN 2;; KAPPA-B-RAS2;; KBRAS2 Number Sign 604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT Percent 604499 HYPERLIPIDEMIA, FAMILIAL COMBINED, 2; FCHL2 HYPERLIPIDEMIA, COMBINED, 2; HYPLIP2 Asterisk 604500 ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 3; ZNHIT3 HIT-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 3;; THYROID HORMONE RECEPTOR INTERACTOR 3; TRIP3 Asterisk 604501 THYROID HORMONE RECEPTOR INTERACTOR 4; TRIP4 ACTIVATING SIGNAL COINTEGRATOR 1; ASC1 Asterisk 604502 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 3; HMGN3 THYROID HORMONE RECEPTOR INTERACTOR 7; TRIP7 Asterisk 604503 JUMONJI DOMAIN-CONTAINING PROTEIN 1C; JMJD1C THYROID HORMONE RECEPTOR INTERACTOR 8; TRIP8;; KIAA1380 Asterisk 604504 THYROID HORMONE RECEPTOR INTERACTOR 10; TRIP10 CDC42-INTERACTING PROTEIN 4; CIP4 Asterisk 604505 THYROID HORMONE RECEPTOR INTERACTOR 11; TRIP11 TRIP, 230-KD; TRIP230;; CLONAL EVOLUTION-RELATED GENE ON CHROMOSOME 14; CEV14;; GOLGI-MICROTUBULE-ASSOCIATED PROTEIN, 210-KD; GMAP210 GOLGI-MICROTUBULE-ASSOCIATED PROTEIN, 200-KD, INCLUDED; GMAP200, INCLUDED;; CEV14/PDGFRB FUSION GENE, INCLUDED Asterisk 604506 THYROID HORMONE RECEPTOR INTERACTOR 12; TRIP12 UBIQUITIN LIGASE FOR ARF; ULF Asterisk 604507 THYROID HORMONE RECEPTOR INTERACTOR 13; TRIP13 HUMAN PAPILLOMAVIRUS TYPE 16 E1 PROTEIN-BINDING PROTEIN; 16E1BP Asterisk 604508 COP9 SIGNALOSOME, SUBUNIT 2; COPS2 THYROID HORMONE RECEPTOR INTERACTOR 15; TRIP15;; SGN2;; ALIEN, DROSOPHILA, HOMOLOG OF;; CSN2 Asterisk 604509 INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP INTERLEUKIN 18 RECEPTOR, BETA CHAIN; IL18RB;; ACCESSORY PROTEIN-LIKE; ACPL Asterisk 604510 HYALURONOGLUCOSAMINIDASE 4; HYAL4 Asterisk 604511 CHROMOBOX HOMOLOG 1; CBX1 CBX;; HP1, DROSOPHILA, HOMOLOG OF, BETA;; HP1-BETA Asterisk 604512 INTERLEUKIN 1 RECEPTOR-LIKE 2; IL1RL2 IL1RRP2;; INTERLEUKIN 36 RECEPTOR; IL36R IL36 RECEPTOR Asterisk 604513 CD84 ANTIGEN; CD84 SLAM FAMILY, MEMBER 5; SLAMF5 Asterisk 604514 SH2 DOMAIN PROTEIN 2A; SH2D2A T-CELL SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN; TSAD Asterisk 604515 B-CELL LINKER PROTEIN; BLNK SH2 DOMAIN-CONTAINING LEUKOCYTE PROTEIN, 65-KD; SLP65;; B CELL-SPECIFIC ADAPTOR PROTEIN; BASH Asterisk 604516 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 2; IGSF2 V7;; CD101 Asterisk 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA; PPARGC1A PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1; PPARGC1;; PPAR-GAMMA COACTIVATOR 1-ALPHA; PGC1A;; PGC1-ALPHA;; PPAR-GAMMA COACTIVATOR 1; PGC1 Asterisk 604518 GRB2-RELATED ADAPTOR PROTEIN 2; GRAP2 GROWTH FACTOR RECEPTOR-BOUND PROTEIN 2-RELATED ADAPTOR PROTEIN 2;; GRB2-RELATED PROTEIN WITH INSERT DOMAIN; GRID;; GADS Percent 604519 INFLAMMATORY BOWEL DISEASE 3; IBD3 Asterisk 604520 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14 LIGHT;; HERPESVIRUS ENTRY MEDIATOR LIGAND; HVEML Asterisk 604521 3-HYDROXYANTHRANILATE 3,4-DIOXYGENASE; HAAO 3-HYDROXYANTHRANILIC ACID DIOXYGENASE;; 3-HAO Asterisk 604522 DEFENSIN, ALPHA, 3; DEFA3 DEF3;; HUMAN NEUTROPHIL PEPTIDE 3; HNP3 Asterisk 604523 CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 1; CELSR1 FLAMINGO, DROSOPHILA, HOMOLOG OF, 2; FMI2 Asterisk 604524 LYMPHOCYTE ANTIGEN 75; LY75 DEC205;; GP200-MR6;; CD205;; CLEC13B Asterisk 604525 HISTAMINE RECEPTOR H3; HRH3 G PROTEIN-COUPLED RECEPTOR 97; GPCR97 Asterisk 604526 ISOCITRATE DEHYDROGENASE 3, BETA SUBUNIT; IDH3B ISOCITRATE DEHYDROGENASE, NAD(+)-SPECIFIC, MITOCHONDRIAL, BETA SUBUNIT Asterisk 604527 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 3; KCNH3 POTASSIUM CHANNEL, VOLTAGE-GATED, ETHER-A-GO-GO-RELATED SUBFAMILY, MEMBER 3;; BRAIN-SPECIFIC EAG-LIKE CHANNEL 1; BEC1 Asterisk 604528 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 4; KCNH4 POTASSIUM CHANNEL, VOLTAGE-GATED, ETHER-A-GO-GO-RELATED SUBFAMILY, MEMBER 4;; BRAIN-SPECIFIC EAG-LIKE CHANNEL 2; BEC2 Asterisk 604529 ORTHOPEDIA, DROSOPHILA, HOMOLOG OF; OTP Asterisk 604530 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 1; NCR1 LYMPHOCYTE ANTIGEN 94, MOUSE, HOMOLOG OF; LY94;; ACTIVATING NATURAL KILLER RECEPTOR p46; NKp46 Asterisk 604531 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2 LYMPHOCYTE ANTIGEN 95, MOUSE, HOMOLOG OF; LY95;; ACTIVATING NK RECEPTOR NKp44; NKp44 Asterisk 604532 POLYCYSTIN 2-LIKE 1; PKD2L1 PKDL;; PKD2L;; POLYCYSTIN-L Asterisk 604533 INTERFERON-STIMULATED GENE, 20-KD; ISG20 HEM45 Asterisk 604534 CD83 ANTIGEN; CD83 HB15;; BL11 Asterisk 604535 KINESIN FAMILY MEMBER C3; KIFC3 Number Sign 604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME MCGRATH SYNDROME Number Sign 604537 LEBER CONGENITAL AMAUROSIS 5; LCA5 Asterisk 604538 KINESIN FAMILY MEMBER 2C; KIF2C KINESIN-LIKE 6; KNSL6;; MITOTIC CENTROMERE-ASSOCIATED KINESIN; MCAK Asterisk 604539 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 2; ADAMTS2 PROCOLLAGEN I N-PROTEINASE; NPI Asterisk 604540 KERATIN 36, TYPE I; KRT36 K36;; KA31;; KERATIN, HAIR, ACIDIC, 6; KRTHA6;; KERATIN, HARD, TYPE I, 6; HA6 Asterisk 604541 KERATIN 37, TYPE I; KRT37 K37;; KA32;; KERATIN, HAIR, ACIDIC, 7; KRTHA7;; KERATIN, HARD, TYPE I, 7; HA7 Asterisk 604542 KERATIN 38, TYPE I; KRT38 K38;; KA33;; KERATIN, HAIR, ACIDIC, 8; KRTHA8;; KERATIN, HARD, TYPE I, 8; HA8 Asterisk 604543 LIM DOMAIN-CONTAINING PROTEIN 1; LIMD1 Asterisk 604544 LEUCYL-tRNA SYNTHETASE 2; LARS2 LEUCYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL LEURS Asterisk 604545 KARYOPHERIN ALPHA-5; KPNA5 IMPORTIN ALPHA-6 Asterisk 604546 TONSOKU-LIKE DNA REPAIR PROTEIN; TONSL NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE 2; NFKBIL2;; I-KAPPA-B-RELATED; IKBR Percent 604547 VAN DER WOUDE SYNDROME 1, MODIFIER OF VWSM Asterisk 604548 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, EPSILON; NFKBIE INHIBITOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS, EPSILON; IKBE Caret 604549 MOVED TO 172471 Asterisk 604550 DENSITY-REGULATED PROTEIN; DENR DRP Asterisk 604551 CHOLESTEROL 25-HYDROXYLASE; CH25H Asterisk 604552 HEPATOCYTE GROWTH FACTOR ACTIVATOR; HGFAC HGF ACTIVATOR; HGFA Asterisk 604553 HEAT-SHOCK FACTOR-BINDING PROTEIN 1; HSBP1 Asterisk 604554 HEAT-SHOCK TRANSCRIPTION FACTOR 2-BINDING PROTEIN; HSF2BP Asterisk 604555 CADHERIN 10; CDH10 T2-CADHERIN Asterisk 604556 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B MINIBRAIN-RELATED KINASE; MIRK Asterisk 604557 ZINC FINGER PROTEIN 423; ZNF423 ZINC FINGER PROTEIN 423, MOUSE, HOMOLOG OF; ZFP423;; OLF1/EBF-ASSOCIATED ZINC FINGER PROTEIN; OAZ;; KIAA0760 Asterisk 604558 INDUCIBLE T-CELL COSTIMULATOR; ICOS INDUCIBLE COSTIMULATOR;; ACTIVATION-INDUCIBLE LYMPHOCYTE IMMUNOMEDIATORY MOLECULE; AILIM Number Sign 604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B PFHBIB Caret 604560 MOVED TO 604453 Asterisk 604561 ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B; MGAT4B UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,3-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B;; GNT-IVB Asterisk 604562 APOPTOTIC CHROMATIN CONDENSATION INDUCER 1; ACIN1 APOPTOTIC CHROMATIN CONDENSATION INDUCER IN THE NUCLEUS; ACINUS Number Sign 604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED Asterisk 604564 GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 3; MGST3 Asterisk 604565 ALG5, S. CEREVISIAE, HOMOLOG OF; ALG5 DOLICHYL PHOSPHATE GLUCOSYLTRANSFERASE Asterisk 604566 ALG6, S. CEREVISIAE, HOMOLOG OF; ALG6 Asterisk 604567 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, ALPHA; DOC2A Asterisk 604568 DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, BETA; DOC2B Asterisk 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2 CONTACTIN-ASSOCIATED PROTEIN 2; CASPR2;; NEUREXIN IV, DROSOPHILA, HOMOLOG OF; NRXN4 Asterisk 604570 SHROOM FAMILY MEMBER 3; SHROOM3 SHROOM, MOUSE, HOMOLOG OF; SHRM;; KIAA1481 Number Sign 604571 BARE LYMPHOCYTE SYNDROME, TYPE I BLS, TYPE I;; HLA CLASS I DEFICIENCY Asterisk 604572 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 1; DNAJB1 HEAT-SHOCK 40-KD PROTEIN 1; HSPF1;; HDJ1 DNAJB1/PRKACA FUSION GENE, INCLUDED Asterisk 604573 CHROMOSOME 14 OPEN READING FRAME 2; C14ORF2 MP68, RAT, HOMOLOG OF; MP68 Asterisk 604574 FERRIC CHELATE REDUCTASE 1-LIKE; FRRS1L CHROMOSOME 9 OPEN READING FRAME 4; C9ORF4;; CG6 Asterisk 604575 ZINC FINGER HIT DOMAIN-CONTAINING PROTEIN 2; ZNHIT2 HIT-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2;; CHROMOSOME 11 OPEN READING FRAME 5; C11ORF5;; FON Asterisk 604576 ERGOSTEROL BIOSYNTHESIS 28 HOMOLOG; ERG28 CHROMOSOME 14 OPEN READING FRAME 1; C14ORF1 Asterisk 604577 BLOOD VESSEL EPICARDIAL SUBSTANCE; BVES HBVES;; POPEYE PROTEIN 1; POP1;; POPEYE DOMAIN-CONTAINING PROTEIN 1; POPDC1 Asterisk 604578 ABSENT IN MELANOMA 2; AIM2 Asterisk 604579 FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4 Asterisk 604580 FIBULIN 5; FBLN5 DEVELOPMENTAL ARTERIES AND NEURAL CREST EGF-LIKE; DANCE Asterisk 604581 ATPase FAMILY GENE 3-LIKE 2; AFG3L2 Asterisk 604582 A-KINASE ANCHOR PROTEIN 2; AKAP2 AKAPKL;; KIAA0920 PARALEMMIN 2, INCLUDED; PALM2, INCLUDED;; PALM2-AKAP2 TRANSCRIPT, INCLUDED Asterisk 604583 PROGRAMMED CELL DEATH 5; PDCD5 TF1 CELL APOPTOSIS-RELATED GENE 19; TFAR19 Asterisk 604584 PLATELET-DERIVED GROWTH FACTOR RECEPTOR-LIKE; PDGFRL PLATELET-DERIVED GROWTH FACTOR-BETA-LIKE TUMOR SUPPRESSOR; PRLTS;; PDGRL Asterisk 604585 NUCLEAR BODY PROTEIN SP100; SP100 NUCLEAR ANTIGEN SP100; SP100;; SPECKLED, 100-KD SP100B, INCLUDED;; LYSP100B, INCLUDED;; SP100-HMG, INCLUDED Asterisk 604586 SYNTAXIN-BINDING PROTEIN 5; STXBP5 TOMOSYN Asterisk 604587 CALCIUM BINDING AND COILED-COIL DOMAIN PROTEIN 2; CALCOCO2 NUCLEAR DOMAIN 10 PROTEIN 52; NDP52 Asterisk 604588 NEVER IN MITOSIS GENE A-RELATED KINASE 1; NEK1 NIMA-RELATED KINASE 1;; KIAA1901 Asterisk 604589 BROMODOMAIN-CONTAINING PROTEIN 1; BRD1 BR140-LIKE GENE; BRL;; BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN 2; BRPF2 Asterisk 604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B CD32;; FC-GAMMA-RIIB Asterisk 604591 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 1; PEBP1 PBP;; RAF KINASE INHIBITOR PROTEIN; RKIP;; HIPPOCAMPAL CHOLINERGIC NEUROSTIMULATING PEPTIDE PRECURSOR PROTEIN;; HCNP PRECURSOR PROTEIN Asterisk 604592 T CELL IMMUNE REGULATOR 1; TCIRG1 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A3; ATP6V0A3;; VACUOLAR PROTON PUMP, ALPHA SUBUNIT 3 TIRC7, INCLUDED;; OC116, INCLUDED Asterisk 604593 KINESIN FAMILY MEMBER 5C; KIF5C KINESIN, HEAVY CHAIN, NEURON-SPECIFIC, 2; NKHC2 Asterisk 604594 CYSTEINE-RICH PDZ DOMAIN-BINDING PROTEIN; CRIPT CYSTEINE-RICH INTERACTOR OF PDZ3 Percent 604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 CLQTL1;; CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13;; CHOLESTEROL-LOWERING FACTOR; CLF Asterisk 604596 CMT1A DUPLICATED REGION TRANSCRIPT 1; CDRT1 CHROMOSOME 17 OPEN READING FRAME 1A; C17ORF1A;; C17ORF1 Asterisk 604597 GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1 Asterisk 604598 OXIDATIVE STRESS-INDUCED GROWTH INHIBITOR FAMILY MEMBER 2; OSGIN2 CHROMOSOME 8 OPEN READING FRAME 1; C8ORF1 Asterisk 604599 EUCHROMATIC HISTONE-LYSINE N-METHYLTRANSFERASE 2; EHMT2 HLA-B-ASSOCIATED TRANSCRIPT 8; BAT8;; G9A;; NG36 Asterisk 604600 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 5; TRPM5 LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 5; LTRPC5;; MLSN1- AND TRP-RELATED GENE 1; MTR1 Asterisk 604601 TRANSLATIONAL RELEASE FACTOR, MITOCHONDRIAL, 1; MTRF1 Asterisk 604602 RIBOSOME-RECYCLING FACTOR, MITOCHONDRIAL; MRRF RRF Asterisk 604603 FER-1, C. ELEGANS, HOMOLOG-LIKE 3; FER1L3 MYOFERLIN; MYOF Asterisk 604604 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 9; SLC30A9 CHROMOSOME 4 OPEN READING FRAME 1; C4ORF1;; HUEL Asterisk 604605 KALIRIN; KALRN HUNTINGTIN-ASSOCIATED PROTEIN-INTERACTING PROTEIN, INCLUDED; HAPIP, INCLUDED;; DUO, INCLUDED;; SERINE/THREONINE PROTEIN KINASE WITH DBL HOMOLOGY AND PLECKSTRIN HOMOLOGY DOMAINS, INCLUDED; DUET, INCLUDED Asterisk 604606 ODORANT-BINDING PROTEIN 2B; OBP2B Asterisk 604607 HOMEOBOX B13; HOXB13 Caret 604608 MOVED TO 604609 Asterisk 604609 MUCIN 12; MUC12 MUCIN 11; MUC11 Asterisk 604610 RECQ PROTEIN-LIKE 3; RECQL3 DNA HELICASE, RECQ-LIKE, TYPE 2; RECQ2;; BLM GENE; BLM Asterisk 604611 RECQ PROTEIN-LIKE 2; RECQL2 DNA HELICASE, RECQ-LIKE, TYPE 3; RECQ3;; WRN GENE; WRN Asterisk 604612 NK2 HOMEOBOX 2; NKX2-2 NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B;; NKX2.2, MOUSE, HOMOLOG OF Asterisk 604613 T-BOX 18; TBX18 Asterisk 604614 T-BOX 19; TBX19 T-BOX FACTOR, PITUITARY; TPIT Asterisk 604615 EOMESODERMIN, XENOPUS, HOMOLOG OF; EOMES T-BOX, BRAIN, 2; TBR2 Asterisk 604616 T-BOX, BRAIN, 1; TBR1 Asterisk 604617 NEURAMINIDASE 3; NEU3 SIALIDASE 3; SIAL3;; SIALIDASE, MEMBRANE Asterisk 604618 NITRILASE 1; NIT1 Asterisk 604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1 EPITEMPIN; EPTP Asterisk 604620 G PROTEIN-COUPLED RECEPTOR 65; GPR65 T-CELL DEATH-ASSOCIATED GENE 8; TDAG8 Asterisk 604621 BETA-1,4-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE; MGAT3 UDP-N-ACETYLGLUCOSAMINE:BETA-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE;; GNT-III Caret 604622 MOVED TO 606519 Asterisk 604623 ALPHA-1,3-MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME A; MGAT4A UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,3-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME A;; GNT-IVA;; N-ACETYLGLUCOSAMINE TRANSFERASE 4A Asterisk 604624 HEAT-SHOCK 27-KD PROTEIN 3; HSPB3 HEAT-SHOCK PROTEIN 27-LIKE PROTEIN; HSPL27 Number Sign 604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3 HYPODONTIA/OLIGODONTIA 3 Asterisk 604626 MALIC ENZYME 3; ME3 MALIC ENZYME, NADP(+)-DEPENDENT, MITOCHONDRIAL Asterisk 604627 INTERLEUKIN 17B; IL17B Asterisk 604628 INTERLEUKIN 17C; IL17C Asterisk 604629 MATRIX METALLOPROTEINASE 20; MMP20 ENAMELYSIN Asterisk 604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2 SMALL HETERODIMER PARTNER; SHP; SHP1 Asterisk 604631 VESICLE AMINE TRANSPORT PROTEIN 1; VAT1 Asterisk 604632 VAC14, S. CEREVISIAE, HOMOLOG OF; VAC14 ASSOCIATED REGULATOR OF PIKFYVE; ARPIKFYVE;; TAX1-BINDING PROTEIN 2; TAX1BP2;; TAX-REACTIVE PROTEIN X; TRX Asterisk 604633 EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2; EFEMP2 FIBULIN 4; FBLN4 Asterisk 604634 TRANSGELIN 2; TAGLN2 Asterisk 604635 NEUREXOPHILIN 2; NXPH2 NPH2 Asterisk 604636 NEUREXOPHILIN 3; NXPH3 NPH3 Asterisk 604637 NEUREXOPHILIN 4; NXPH4 NPH4 Asterisk 604638 ACTININ, ALPHA-4; ACTN4 ACTININ-4 Asterisk 604639 NEUREXOPHILIN 1; NXPH1 NPH1 Asterisk 604640 T-CELL LEUKEMIA HOMEOBOX 3; TLX3 HOMEOBOX 11-LIKE 2; HOX11L2;; RESPIRATORY NEURON HOMEOBOX, MOUSE, HOMOLOG OF; RNX Asterisk 604641 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1; MAPK8IP1 JNK-INTERACTING PROTEIN 1; JIP1;; ISLET-BRAIN 1; IB1 Asterisk 604642 CARBONIC ANHYDRASE X; CA10 CA X;; CARBONIC ANHYDRASE-RELATED PROTEIN X;; CARP X Asterisk 604643 NEUROPEPTIDE FF-AMIDE PEPTIDE; NPFF NEUROPEPTIDE AF-AMIDE PEPTIDE, INCLUDED; NPAF, INCLUDED;; NEUROPEPTIDE FF- AND AF-AMIDE PEPTIDE PRECURSOR, INCLUDED;; FMRF-AMIDE-LIKE PEPTIDE PRECURSOR, INCLUDED; FMRFAL, INCLUDED Asterisk 604644 CARBONIC ANHYDRASE XI; CA11 CARBONIC ANHYDRASE-RELATED PROTEIN 11;; CARP XI;; CARBONIC ANHYDRASE-RELATED PROTEIN 2; CARP2 Asterisk 604645 PHOSPHODIESTERASE 7B, cAMP-SPECIFIC, HIGH AFFINITY; PDE7B Asterisk 604646 NUCLEOPORIN, 50-KD; NUP50 NPAP60, RAT, HOMOLOG OF; NPAP60L Asterisk 604647 CALCYON; CALY DOPAMINE RECEPTOR D1-INTERACTING PROTEIN; DRD1IP Asterisk 604648 T-BOX 10; TBX10 Asterisk 604649 TUBULIN-SPECIFIC CHAPERONE D; TBCD Asterisk 604650 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 3; IFIT3 RETINOIC ACID-INDUCED GENE G; RIGG;; INTERFERON-INDUCED PROTEIN 60; IFI60;; IFIT4 Asterisk 604651 GROWTH/DIFFERENTIATION FACTOR 7; GDF7 BONE MORPHOGENETIC PROTEIN 12; BMP12 Asterisk 604652 TRANSCRIPTION FACTOR 7-LIKE 1; TCF7L1 TRANSCRIPTION FACTOR 3, FORMERLY; TCF3, FORMERLY Asterisk 604653 SOLUTE CARRIER FAMILY 40 (IRON-REGULATED TRANSPORTER), MEMBER 1; SLC40A1 FERROPORTIN 1; FPN1;; IRON-REGULATED TRANSPORTER 1; IREG1;; SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 3, FORMERLY; SLC11A3, FORMERLY Asterisk 604654 5-HYDROXYTRYPTAMINE RECEPTOR 3B; HTR3B SEROTONIN 5-HT-3B RECEPTOR Asterisk 604655 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 14; MAP3K14 NF-KAPPA-B-INDUCING KINASE; NIK;; SERINE/THREONINE PROTEIN KINASE NIK;; HSNIK Asterisk 604656 FORMIN-LIKE 1; FMNL1 FORMIN-LIKE; FMNL;; CHROMOSOME 17 OPEN READING FRAME 1B; C17ORF1B;; C17ORF1 Asterisk 604657 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 5; TM4SF5 Asterisk 604658 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1; TM7SF1 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1, LONG, INCLUDED; TM7SF1L, INCLUDED;; TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1, INTERMEDIATE, INCLUDED; TM7SF1I, INCLUDED;; TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 1, SHORT, INCLUDED; TM7SF1S, INCLUDED Asterisk 604659 ENDOGENOUS RETROVIRAL FAMILY W, MEMBER 1; ERVW1 ENDOGENOUS RETROVIRAL FAMILY W, ENV-C7, MEMBER 1; ERVWE1;; HERV-W;; SYNCYTIN;; SYNCYTIN 1;; SYNCYTIN A, MOUSE, HOMOLOG OF Asterisk 604660 POTASSIUM CHANNEL-INTERACTING PROTEIN 1; KCNIP1 KCHIP1 Asterisk 604661 POTASSIUM CHANNEL-INTERACTING PROTEIN 2; KCNIP2 KCHIP2 Asterisk 604662 POTASSIUM CHANNEL-INTERACTING PROTEIN 3; KCNIP3 KCHIP3;; CALSENILIN; CSEN;; DRE-ANTAGONIST MODULATOR; DREAM Asterisk 604663 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 6; WNT6 Asterisk 604664 INTERFERON-GAMMA-INDUCIBLE PROTEIN 30; IFI30 LYSOSOMAL THIOL REDUCTASE, GAMMA-INTERFERON-INDUCIBLE; GILT Asterisk 604665 COP9 SIGNALOSOME, SUBUNIT 3; COPS3 SGN3 Asterisk 604666 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 4; MAP4K4 HEMATOPOIETIC PROGENITOR KINASE/GERMINAL CENTER KINASE-LIKE KINASE; HGK;; NCK-INTERACTING KINASE; NIK Asterisk 604667 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION; CADPS CAPS;; CADPS1;; KIAA1121 Asterisk 604668 ZINC FINGER PROTEIN 264; ZNF264 Asterisk 604669 POLYCYSTIN 2-LIKE 2; PKD2L2 Asterisk 604670 POLYCYSTIN AND SEA URCHIN REJ HOMOLOG-LIKE; PKDREJ Asterisk 604671 JUMPING TRANSLOCATION BREAKPOINT; JTB Asterisk 604672 CD209 ANTIGEN; CD209 DENDRITIC CELL-SPECIFIC ICAM3-GRABBING NONINTEGRIN; DCSIGN;; HIV GP120-BINDING PROTEIN;; C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER L; CLEC4L Asterisk 604673 MURINE RETROVIRUS INTEGRATION SITE 1, HOMOLOG OF; MRVI1 INOSITOL 1,4,5-TRIPHOSPHATE-ASSOCIATED cGMP KINASE SUBSTRATE; IRAG;; IP3R-ASSOCIATED cGMP KINASE SUBSTRATE Asterisk 604674 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF 2; HEY2 CARDIOVASCULAR BASIC-LOOP-HELIX FACTOR, FORMERLY; CHF1, FORMERLY;; HAIRY/ENHANCER OF SPLIT-RELATED REPRESSOR PROTEIN 1; HERP1;; GRIDLOCK; GRL;; HAIRY-RELATED TRANSCRIPTION FACTOR 2; HRT2 Asterisk 604675 PAIRED-RELATED HOMEOBOX GENE 2; PRRX2 PAIRED-LIKE HOMEOBOX GENE 2; PRX2 Asterisk 604676 HLA COMPLEX P5 GENE; HCP5 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, GENE P5-1;; P5-1;; D6S2650E Asterisk 604677 COL4A3-BINDING PROTEIN; COL4A3BP GOODPASTURE ANTIGEN-BINDING PROTEIN; GPBP CERAMIDE TRANSPORTER, INCLUDED; CERT, INCLUDED Asterisk 604678 TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 2; TM9SF2 p76 Asterisk 604679 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 1; PABPC1 POLYADENYLATE-BINDING PROTEIN 1; PABP1; PAB1;; POLY(A)-BINDING PROTEIN 1;; POLY(A)-BINDING PROTEIN; PABP Asterisk 604680 POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 3; PABPC3 POLYADENYLATE-BINDING PROTEIN 3; PABP3;; POLY(A)-BINDING PROTEIN 3;; POLYADENYLATE-BINDING PROTEIN-LIKE 3; PABPL3 Caret 604681 MOVED TO 604680 Asterisk 604682 INTEGRIN, ALPHA-E; ITGAE CD103 ANTIGEN;; HUMAN MUCOSAL LYMPHOCYTE ANTIGEN 1, ALPHA SUBUNIT Asterisk 604683 KINESIN FAMILY MEMBER 3A; KIF3A Asterisk 604684 MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA, TRANSLOCATED TO, 11; MLLT11 ALL1-FUSED GENE FROM CHROMOSOME 1q; AF1Q Asterisk 604685 HOMEOBOX A2; HOXA2 Asterisk 604686 A-KINASE ANCHOR PROTEIN 13; AKAP13 LYMPHOID BLAST CRISIS ONCOGENE, INCLUDED; LBC, INCLUDED;; BREAST CANCER cDNA-ENCODED NUCLEAR RECEPTOR-BINDING AUXILIARY PROTEIN 1, INCLUDED; BRX1, INCLUDED; BRX, INCLUDED Asterisk 604687 PROSTAGLANDIN D2 RECEPTOR; PTGDR PROSTANOID DP RECEPTOR; DP;; DP1 Asterisk 604688 A-KINASE ANCHOR PROTEIN 5; AKAP5 A-KINASE ANCHOR PROTEIN, 79-KD; AKAP79;; AKAP75, BOVINE, HOMOLOG OF;; AKAP150, MOUSE, HOMOLOG OF Asterisk 604689 A-KINASE ANCHOR PROTEIN 3; AKAP3 A-KINASE ANCHOR PROTEIN, 110-KD; AKAP110;; FIBROUS SHEATH PROTEIN, 95-KD; FSP95;; SPERM OOCYTE-BINDING PROTEIN 1; SOB1 NULL 604690 GROWTH AND DEVELOPMENTAL RETARDATION, OCULAR PTOSIS, CARDIAC DEFECT, AND ANAL ATRESIA ROCA SYNDROME;; ROCA-WEIDEMANN SYNDROME Asterisk 604691 A-KINASE ANCHOR PROTEIN 6; AKAP6 A-KINASE ANCHOR PROTEIN, 100-KD; AKAP100 Asterisk 604692 A-KINASE ANCHOR PROTEIN 8; AKAP8 A-KINASE ANCHOR PROTEIN, 95-KD; AKAP95 Asterisk 604693 A-KINASE ANCHOR PROTEIN 7; AKAP7 A-KINASE ANCHOR PROTEIN, 18-KD; AKAP18 Asterisk 604694 A-KINASE ANCHOR PROTEIN 10; AKAP10 DUAL-SPECIFIC A KINASE-ANCHORING PROTEIN 2; DAKAP2 Asterisk 604695 ADP-RIBOSYLATION FACTOR-LIKE 3; ARL3 ARFL3 Asterisk 604696 A-KINASE ANCHOR PROTEIN 11; AKAP11 A-KINASE ANCHOR PROTEIN, 220-KD; AKAP220 Asterisk 604697 CHEMOKINE, CC MOTIF, LIGAND 26; CCL26 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 26; SCYA26;; EOTAXIN 3 Asterisk 604698 A-KINASE ANCHOR PROTEIN 12; AKAP12 A-KINASE ANCHOR PROTEIN, 250-KD; AKAP250;; GRAVIN Asterisk 604699 ADP-RIBOSYLATION FACTOR-RELATED PROTEIN 1; ARFRP1 ARP Asterisk 604700 TARGET OF MYB1, CHICKEN, HOMOLOG OF; TOM1 Asterisk 604701 TOM1-LIKE 1; TOM1L1 Asterisk 604702 HMG BOX DOMAIN-CONTAINING 4; HMGXB4 HIGH MOBILITY GROUP PROTEIN 2-LIKE 1; HMG2L1;; THC211630 Caret 604703 MOVED TO 604702 Asterisk 604704 BREAST CANCER ANTIESTROGEN RESISTANCE 3; BCAR3 SH2 DOMAIN-CONTAINING PROTEIN 3B; SH2D3B;; NOVEL SH2-CONTAINING PROTEIN 2; NSP2 Asterisk 604705 MER TYROSINE KINASE PROTOONCOGENE; MERTK Caret 604706 MOVED TO 164015 Asterisk 604707 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B10; AKR1B10 ALDOSE REDUCTASE-LIKE 1; ARL1;; HUMAN SMALL INTESTINE REDUCTASE;; HSI REDUCTASE Asterisk 604708 NUCLEAR FACTOR OF ACTIVATED T CELLS 5; NFAT5 TONICITY-RESPONSIVE ENHANCER-BINDING PROTEIN; TONEBP;; NFAT-LIKE PROTEIN 1; NFATL1;; KIAA0827 Asterisk 604709 T-CELL LYMPHOMA INVASION AND METASTASIS 2; TIAM2 Asterisk 604710 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4; LTBP4 LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4, SHORT, INCLUDED; LTBP4S, INCLUDED;; LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4, LONG, INCLUDED; LTBP4L, INCLUDED Asterisk 604711 UBIQUITIN-LIKE 3; UBL3 Asterisk 604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE, p53-INDUCIBLE; P53R2;; p53-INDUCIBLE AND RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE Asterisk 604713 C-TYPE LECTIN DOMAIN FAMILY 11, MEMBER A; CLEC11A STEM CELL GROWTH FACTOR; SCGF;; LYMPHOCYTIC SECRETED LONG FORM OF C-TYPE LECTIN; LSLCL;; LECTIN, C-TYPE, LYMPHOCYTE-SECRETED LONG FORM Asterisk 604714 TSPY-LIKE 1; TSPYL1 TSPY-LIKE; TSPYL Number Sign 604715 ORTHOSTATIC INTOLERANCE NEUROCIRCULATORY ASTHENIA;; MITRAL VALVE PROLAPSE SYNDROME;; IRRITABLE HEART;; SOLDIERS HEART Asterisk 604716 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER A1; UGT2A1 UDP GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER A1;; UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER A1 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER A2, INCLUDED; UGT2A2, INCLUDED Number Sign 604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 DFNA26 Asterisk 604718 TRANSCRIPTION TERMINATION FACTOR, RNA POLYMERASE II; TTF2 Asterisk 604719 SERINE/THREONINE PROTEIN KINASE 16; STK16 PKL12, MOUSE, HOMOLOG OF;; TRANSFORMING GROWTH FACTOR-BETA-STIMULATED FACTOR 1; TSF1;; TGFB-STIMULATED FACTOR 1 Asterisk 604720 TRANSFERRIN RECEPTOR 2; TFR2 Asterisk 604721 SH2 DOMAIN-CONTAINING PROTEIN 3A; SH2D3A NOVEL SH2-CONTAINING PROTEIN 1; NSP1 Asterisk 604722 SH2 DOMAIN-CONTAINING PROTEIN 3C; SH2D3C SH2 DOMAIN-CONTAINING PROTEIN 3;; NOVEL SH2-CONTAINING PROTEIN 3; NSP3;; SH2 DOMAIN-CONTAINING EPH RECEPTOR-BINDING PROTEIN 1; SHEP1;; CAS/HEF1-ASSOCIATED SIGNAL TRANSDUCER; CHAT Asterisk 604723 Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TSFM MITOCHONDRIAL TRANSLATION ELONGATION FACTOR Ts;; EFTsMT Asterisk 604724 HEPARANASE; HPSE HPSE1; HSE1;; HPA;; HPA1 Asterisk 604725 UBIQUITIN-SPECIFIC PROTEASE 2; USP2 UBIQUITIN-SPECIFIC PROTEASE, 41-KD; UBP41 Asterisk 604726 SERINE/THREONINE PROTEIN KINASE 17A; STK17A DAP KINASE-RELATED APOPTOSIS-INDUCING PROTEIN KINASE 1; DRAK1 Asterisk 604727 SERINE/THREONINE PROTEIN KINASE 17B; STK17B DAP KINASE-RELATED APOPTOSIS-INDUCING PROTEIN KINASE 2; DRAK2 Asterisk 604728 UBIQUITIN-SPECIFIC PROTEASE 3; USP3 Asterisk 604729 UBIQUITIN-SPECIFIC PROTEASE 21; USP21 UBIQUITIN-SPECIFIC PROTEASE 23, FORMERLY; USP23, FORMERLY Asterisk 604730 TUBBY-LIKE PROTEIN 3; TULP3 Asterisk 604731 UBIQUITIN-SPECIFIC PROTEASE 15; USP15 Asterisk 604732 TRANSCRIPTION FACTOR EC; TFEC TFECL Asterisk 604733 TRYPTOPHANYL-tRNA SYNTHETASE 2; WARS2 TRYPTOPHANYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL TRPRS Asterisk 604734 WD REPEAT-CONTAINING PROTEIN 1; WDR1 ACTIN-INTERACTING PROTEIN 1; AIP1 Asterisk 604735 UBIQUITIN-SPECIFIC PROTEASE 16; USP16 UBPM Asterisk 604736 UBIQUITIN-SPECIFIC PROTEASE 25; USP25 UBIQUITIN-SPECIFIC PROTEASE ON CHROMOSOME 21; USP21 Asterisk 604737 WD REPEAT-CONTAINING PROTEIN 3; WDR3 Asterisk 604738 CHEMOKINE, CC MOTIF, RECEPTOR 9; CCR9 GPR-9-6 Asterisk 604739 RNA BINDING MOTIF PROTEIN 39; RBM39 SPLICING FACTOR HCC1;; COACTIVATOR OF ACTIVATOR PROTEIN 1 AND ESTROGEN RECEPTORS; CAPER;; RNA-BINDING REGION-CONTAINING PROTEIN 2; RNPC2 HCC1.3, INCLUDED;; HCC1.4, INCLUDED Asterisk 604740 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 1; SLC39A1 ZINC/IRON-REGULATED TRANSPORTER-LIKE; ZIRTL;; ZRT- AND IRT-LIKE PROTEIN 1; ZIP1 Asterisk 604741 ALDO-KETO REDUCTASE FAMILY 1, MEMBER D1; AKR1D1 DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE;; STEROID 5-BETA-REDUCTASE; SRD5B1;; 5-BETA-REDUCTASE Asterisk 604742 DOUBLECORTIN-LIKE KINASE 1; DCLK1 DOUBLECORTIN- AND CALMODULIN KINASE-LIKE 1; DCAMKL1;; CAMK-LIKE CREB REGULATORY KINASE 1; CLICK1; CL1;; KIAA0369 Asterisk 604743 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 1; DDAH1 Asterisk 604744 DIMETHYLARGININE DIMETHYLAMINOHYDROLASE 2; DDAH2 Asterisk 604745 TRANSCRIPTION FACTOR-LIKE 5; TCFL5 Asterisk 604746 TESTIS-SPECIFIC PROTEIN KINASE 2; TESK2 Asterisk 604747 SRY-BOX 14; SOX14 SRY-RELATED HMG-BOX GENE 14;; SOX28 Asterisk 604748 SRY-BOX 13; SOX13 SRY-RELATED HMG-BOX GENE 12;; ISLET CELL ANTIBODY 12; ICA12 Asterisk 604749 ZINC FINGER PROTEIN 93, MOUSE, HOMOLOG OF; ZFP93 ZINC FINGER PROTEIN 270; ZNF270;; HZF6 Asterisk 604750 ZINC FINGER PROTEIN 234; ZNF234 ZINC FINGER PROTEIN 269; ZNF269;; HZF4 Asterisk 604751 ZINC FINGER PROTEIN 266; ZNF266 HZF1 Asterisk 604752 ZINC FINGER PROTEIN 267; ZNF267 HZF2 Asterisk 604753 ZINC FINGER PROTEIN 268; ZNF268 HZF3 Asterisk 604754 ZINC FINGER PROTEIN 271; ZNF271 HZF7;; EPSTEIN-BARR VIRUS-INDUCED ZINC FINGER PROTEIN; ZNFEB Asterisk 604755 ZINC FINGER PROTEIN 272; ZNF272 HZF8;; ZNF460 Asterisk 604756 ZINC FINGER PROTEIN 273; ZNF273 HZF9 Number Sign 604757 CRANIOSYNOSTOSIS 2; CRS2 CRANIOSYNOSTOSIS, BOSTON-TYPE; CSB Asterisk 604758 V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOG B; RELB IREL Asterisk 604759 SYNAPTONEMAL COMPLEX PROTEIN 3; SYCP3 SCP3;; COR1 Asterisk 604760 ZINC FINGER PROTEIN 236; ZNF236 ZNF236A, INCLUDED;; ZNF236B, INCLUDED Asterisk 604761 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 5; ZFAND5 AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 5;; ZINC FINGER PROTEIN 216; ZNF216 Asterisk 604762 SWITCH-ASSOCIATED PROTEIN 70 SWAP70 Asterisk 604763 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 12; ARHGEF12 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR, LEUKEMIA-ASSOCIATED;; LEUKEMIA-ASSOCIATED RHO GEF; LARG;; KIAA0382 LARG/MLL FUSION GENE, INCLUDED Asterisk 604764 ZINC FINGER AND HOMEODOMAIN PROTEIN 1; ZHX1 Number Sign 604765 CARDIOMYOPATHY, DILATED, 1I; CMD1I Asterisk 604766 PODOCIN; NPHS2 PDCN Asterisk 604767 DELETED IN ESOPHAGEAL CANCER 1; DEC1 Asterisk 604768 ZINC FINGER PROTEIN 254; ZNF254 ZINC FINGER PROTEIN 91-LIKE; ZNF91L Asterisk 604769 PEROXIREDOXIN 3; PRDX3 PRX3;; ANTIOXIDANT PROTEIN 1; AOP1 Asterisk 604770 ACETYL-CoA ACYLTRANSFERASE 2; ACAA2 3-OXOACYL-CoA THIOLASE, MITOCHONDRIAL NULL 604771 POLYCYSTIC BONE DISEASE PCBD Number Sign 604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP Asterisk 604773 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8 Asterisk 604774 ANGIOPOIETIN-LIKE 3; ANGPTL3 ANGIOPOIETIN 5; ANGPT5 Asterisk 604775 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY A, MEMBER 1; TRPA1 ANKYRIN-LIKE PROTEIN WITH TRANSMEMBRANE DOMAINS 1; ANKTM1 Asterisk 604776 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-5; HLA-DRB5 Number Sign 604777 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE; NNCI;; ICHTHYOSIS CONGENITA III;; ICHTHYOSIS, LAMELLAR, 3, FORMERLY; LI3, FORMERLY Asterisk 604778 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 29; ADAM29 Asterisk 604779 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 30; ADAM30 Asterisk 604780 ABHYDROLASE DOMAIN-CONTAINING 5; ABHD5 COMPARATIVE GENE IDENTIFICATION 58; CGI58;; NCIE2 GENE; NCIE2 Caret 604781 MOVED TO 604777 Asterisk 604782 ASH2-LIKE; ASH2L ASH2;; DROSOPHILA ASH2-LIKE;; DROSOPHILA ABSENT, SMALL, OR HOMEOTIC DISCS 2-LIKE;; ASH2L1;; ASH2L2 Asterisk 604783 CLEFT LIP AND PALATE-ASSOCIATED TRANSMEMBRANE PROTEIN 1; CLPTM1 Asterisk 604784 TRANSCRIPTION ELONGATION FACTOR A, 2; TCEA2 Asterisk 604785 CATENIN, ALPHA-LIKE, 1; CTNNAL1 CATULIN, ALPHA Asterisk 604786 ADP-RIBOSYLATION FACTOR-LIKE 4A; ARL4A ADP-RIBOSYLATION FACTOR-LIKE 4; ARL4 Asterisk 604787 ADP-RIBOSYLATION FACTOR-LIKE 4C; ARL4C ADP-RIBOSYLATION FACTOR-LIKE 7; ARL7 Asterisk 604788 RUVB, E. COLI, HOMOLOG-LIKE 2; RUVBL2 TATA BOX-BINDING PROTEIN-INTERACTING PROTEIN, 48-KD; TIP48;; TBP-INTERACTING PROTEIN, 48-KD;; TIP49B;; REPTIN;; ERYTHROCYTE CYTOSOLIC PROTEIN, 51-KD; ECP51 Asterisk 604789 INTEGRIN, ALPHA-11; ITGA11 Asterisk 604790 TASTE RECEPTOR, TYPE 2, MEMBER 14; TAS2R14 T2R14;; TASTE RECEPTOR, FAMILY B, MEMBER 1; TRB1 Asterisk 604791 TASTE RECEPTOR, TYPE 2, MEMBER 10; TAS2R10 T2R10;; TASTE RECEPTOR, FAMILY B, MEMBER 2; TRB2 Asterisk 604792 TASTE RECEPTOR, TYPE 2, MEMBER 13; TAS2R13 T2R13;; TASTE RECEPTOR, FAMILY B, MEMBER 3; TRB3 Asterisk 604793 TASTE RECEPTOR, TYPE 2, MEMBER 7; TAS2R7 T2R7;; TASTE RECEPTOR, FAMILY B, MEMBER 4; TRB4 Asterisk 604794 TASTE RECEPTOR, TYPE 2, MEMBER 8; TAS2R8 T2R8;; TASTE RECEPTOR, FAMILY B, MEMBER 5; TRB5 Asterisk 604795 TASTE RECEPTOR, TYPE 2, MEMBER 9; TAS2R9 T2R9;; TASTE RECEPTOR, FAMILY B, MEMBER 6; TRB6 Asterisk 604796 TASTE RECEPTOR, TYPE 2, MEMBER 1; TAS2R1 T2R1;; TASTE RECEPTOR, FAMILY B, MEMBER 7; TRB7 Asterisk 604797 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 2; APOBEC2 APOBEC1-LIKE Asterisk 604798 HOMER, DROSOPHILA, HOMOLOG OF, 1; HOMER1 HOMER HOMER1A, INCLUDED;; HOMER1B, INCLUDED;; HOMER1C, INCLUDED Asterisk 604799 HOMER, DROSOPHILA, HOMOLOG OF, 2; HOMER2 HOMER2A, INCLUDED;; HOMER2B, INCLUDED Asterisk 604800 HOMER, DROSOPHILA, HOMOLOG OF, 3; HOMER3 Percent 604801 MUSCULAR DYSTROPHY, CONGENITAL, 1B; MDC1B Percent 604802 HUNTINGTON DISEASE-LIKE 3; HDL3 HUNTINGTON DISEASE-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL RECESSIVE Asterisk 604803 DOPEY FAMILY MEMBER 2; DOPEY2 PATTERNING DEFECTIVE 1, C. ELEGANS, HOMOLOG OF; PAD1;; CHROMOSOME 21 OPEN READING FRAME 5; C21ORF5 Number Sign 604804 MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3 Number Sign 604805 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 Asterisk 604806 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 1; FLRT1 Asterisk 604807 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 2; FLRT2 Asterisk 604808 FIBRONECTIN-LIKE DOMAIN-CONTAINING LEUCINE-RICH TRANSMEMBRANE PROTEIN 3; FLRT3 Percent 604809 PANBRONCHIOLITIS, DIFFUSE DPB;; PBLT Asterisk 604810 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; LILRA1 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 6; LIR6;; CD85I Asterisk 604811 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; LILRB1 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 1; LIR1;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 2; ILT2;; MONOCYTE/MACROPHAGE IMMUNOGLOBULIN-LIKE RECEPTOR 7; MIR7;; CD85;; CD85J Asterisk 604812 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 2; LILRA2 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 7; LIR7;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 1; ILT1;; CD85H Asterisk 604813 CYTOCHROME c OXIDASE COPPER CHAPERONE COX17; COX17 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX17;; COX17, S. CEREVISIAE, HOMOLOG OF Asterisk 604814 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 5; LILRB5 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 8; LIR8;; CD85C Asterisk 604815 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 2; LILRB2 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 2; LIR2;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 4; ILT4;; MONOCYTE/MACROPHAGE IMMUNOGLOBULIN-LIKE RECEPTOR 10; MIR10;; CD85D Caret 604816 MOVED TO 604213 Asterisk 604817 CARBOHYDRATE SULFOTRANSFERASE 5; CHST5 N-ACETYLGLUCOSAMINE-6-O-SULFOTRANSFERASE, INTESTINAL; IGlcNAc6ST;; GlcNAc-6-O-SULFOTRANSFERASE, INTESTINAL Asterisk 604818 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 3; LILRA3 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 4; LIR4;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 6; ILT6;; HM43;; CD85E Asterisk 604819 POLY-U-BINDING SPLICING FACTOR, 60-KD; PUF60 FUSE-BINDING PROTEIN-INTERACTING REPRESSOR; FIR;; FBP-INTERACTING REPRESSOR;; SIAH-BINDING PROTEIN 1; SIAHBP1 Asterisk 604820 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 3; LILRB3 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 3; LIR3;; IMMUNOGLOBULIN LEUKOCYTE TRANSCRIPT 5; ILT5;; HL9;; CD85A;; PAIRED IMMUNOGLOBULIN-LIKE RECEPTOR B; PIRB Asterisk 604821 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 4; LILRB4 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 5; LIR5;; IMMUNOGLOBULIN LEUKOCYTE TRANSCRIPT 3; ILT3;; HM18;; CD85K Asterisk 604822 CALPAIN 11; CAPN11 Asterisk 604823 BarH-LIKE HOMEOBOX GENE 2; BARX2 Asterisk 604824 KLOTHO; KL ALPHA-KLOTHO Asterisk 604825 FASCICULATION AND ELONGATION PROTEIN ZETA 1; FEZ1 FASCICULATION AND ELONGATION PROTEIN ZYGIN I Asterisk 604826 FASCICULATION AND ELONGATION PROTEIN ZETA 2; FEZ2 FASCICULATION AND ELONGATION PROTEIN ZYGIN II Percent 604827 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7; EIG7 MYOCLONIC EPILEPSY, JUVENILE, 2, INCLUDED; EJM2, INCLUDED Asterisk 604828 CHEMOKINE, C MOTIF, LIGAND 2; XCL2 SMALL INDUCIBLE CYTOKINE SUBFAMILY C, MEMBER 2; SCYC2;; SINGLE CYSTEINE MOTIF 1B; SCM1B Asterisk 604829 DOWN SYNDROME CRITICAL REGION GENE 4; DSCR4 DOWN SYNDROME CRITICAL REGION GENE B; DSCRB NULL 604830 MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE Asterisk 604831 EVC GENE; EVC EVC1 Asterisk 604832 CARBONIC ANHYDRASE XIV; CA14 CA XIV Asterisk 604833 CHEMOKINE, CC MOTIF, LIGAND 27; CCL27 SMALL INDUCIBLE CYTOKINE SUBFAMILY A, MEMBER 27; SCYA27;; IL11RA-LOCUS CHEMOKINE; ILC;; CUTANEOUS T CELL-ATTRACTING CHEMOKINE; CTACK;; ESKINE Asterisk 604834 TANK-BINDING KINASE 1; TBK1 NF-KAPPA-B-ACTIVATING KINASE; NAK Asterisk 604835 DUAL-SPECIFICITY PHOSPHATASE 12; DUSP12 YVH1, S. CEREVISIAE, HOMOLOG OF Asterisk 604836 CHEMOKINE, CC MOTIF, RECEPTOR 4; CCR4 CKR4;; CMKBR4 Asterisk 604837 PROSTAGLANDIN D2 RECEPTOR 2; PTGDR2 G PROTEIN-COUPLED RECEPTOR 44; GPR44;; CRTH2 Asterisk 604838 G PROTEIN-COUPLED RECEPTOR 45; GPR45 Asterisk 604839 FK506-BINDING PROTEIN 6; FKBP6 FK506-BINDING PROTEIN, 36-KD Asterisk 604840 FK506-BINDING PROTEIN 8; FKBP8 FK506-BINDING PROTEIN, 38-KD; FKBP38 Number Sign 604841 STICKLER SYNDROME, TYPE II; STL2 STICKLER SYNDROME, VITREOUS TYPE 2;; STICKLER SYNDROME, BEADED VITREOUS TYPE Asterisk 604842 SOLUTE CARRIER FAMILY 22 (EXTRANEURONAL MONOAMINE TRANSPORTER), MEMBER 3; SLC22A3 EXTRANEURONAL MONOAMINE TRANSPORTER; EMT;; ORGANIC CATION TRANSPORTER 3; OCT3 Asterisk 604843 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B1; SLCO1B1 LIVER-SPECIFIC TRANSPORTER 1; LST1;; ORGANIC ANION TRANSPORTER 2; OATP2;; ORGANIC ANION TRANSPORTER C; OATPC;; ORGANIC ANION TRANSPORTER 1B1; OATP1B1;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 6, FORMERLY; SLC21A6, FORMERLY Asterisk 604844 HEPARAN SULFATE 2-O-SULFOTRANSFERASE 1; HS2ST1 Asterisk 604845 PROSTATE CANCER ANTIGEN 3; PCA3 PROSTATE-SPECIFIC GENE DD3; DD3 Asterisk 604846 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1 HS6ST Asterisk 604847 G PROTEIN-COUPLED RECEPTOR 26; GPR26 Caret 604848 MOVED TO 604849 Asterisk 604849 TRACE AMINE-ASSOCIATED RECEPTOR 2; TAAR2 G PROTEIN-COUPLED RECEPTOR 58; GPR58 Asterisk 604850 COP9 SIGNALOSOME, SUBUNIT 5; COPS5 CSN5;; JUN ACTIVATION DOMAIN-BINDING PROTEIN; JAB1;; SGN5;; MOV34 FAMILY, 38-KD MEMBER Asterisk 604851 G-RICH RNA SEQUENCE-BINDING FACTOR 1; GRSF1 Asterisk 604852 CHEMOKINE, CXC MOTIF, LIGAND 11; CXCL11 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 11; SCYB11;; INTERFERON-GAMMA-INDUCIBLE PROTEIN 9; IP9;; INTERFERON-INDUCIBLE T-CELL ALPHA CHEMOATTRACTANT; ITAC;; SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 9B; SCYB9B Asterisk 604853 MITOCHONDRIAL RIBOSOMAL PROTEIN L28; MRPL28 MELANOMA-ASSOCIATED ANTIGEN RECOGNIZED BY T LYMPHOCYTES 1; MAAT1 Asterisk 604854 INDOLETHYLAMINE N-METHYLTRANSFERASE; INMT NULL 604855 HYALURONAN METABOLISM, DEFECT IN NULL 604856 LANGERHANS CELL HISTIOCYTOSIS LCH Asterisk 604857 SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54 Asterisk 604858 SIGNAL RECOGNITION PARTICLE, 68-KD; SRP68 Asterisk 604859 LIM AND CYSTEINE-RICH DOMAINS 1; LMCD1 Asterisk 604860 MUCOSA-ASSOCIATED LYMPHOID TISSUE LYMPHOMA TRANSLOCATION GENE 1; MALT1 MLT;; PARACASPASE MALT1/API2 FUSION GENE, INCLUDED Asterisk 604861 LARGE TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; LATS2 Asterisk 604862 CD207 ANTIGEN; CD207 LECTIN, C-TYPE, LANGERHANS CELL-SPECIFIC;; LANGERIN;; C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER K; CLEC4K Asterisk 604863 LECITHIN RETINOL ACYLTRANSFERASE; LRAT Number Sign 604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP NAMAQUALAND HIP DYSPLASIA; NHD Asterisk 604865 KRUPPEL-LIKE FACTOR 7; KLF7 UBIQUITOUS KRUPPEL-LIKE FACTOR; UKLF Asterisk 604866 PLEOMORPHIC ADENOMA GENE-LIKE 2; PLAGL2 Asterisk 604867 TASTE RECEPTOR, TYPE 2, MEMBER 16; TAS2R16 T2R16 Asterisk 604868 TASTE RECEPTOR, TYPE 2, MEMBER 3; TAS2R3 T2R3 Asterisk 604869 TASTE RECEPTOR, TYPE 2, MEMBER 4; TAS2R4 T2R4 Asterisk 604870 MACROPHAGE RECEPTOR WITH COLLAGENOUS STRUCTURE; MARCO SCAVENGER RECEPTOR CLASS A, MEMBER 2; SCARA2 Asterisk 604871 MATRIX METALLOPROTEINASE 24; MMP24 MEMBRANE-TYPE MATRIX METALLOPROTEINASE 5; MT5-MMP Asterisk 604872 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 7; PCSK7 PC8;; PC7;; LYMPHOMA PROPROTEIN CONVERTASE; LPC Asterisk 604873 MYELIN PROTEIN ZERO-LIKE 2; MPZL2 EPITHELIAL V-LIKE ANTIGEN 1; EVA1;; EVA Asterisk 604874 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY G, MEMBER 1; KLRG1 MAST CELL FUNCTION-ASSOCIATED ANTIGEN, RAT, HOMOLOG OF; MAFA;; MAFA-LIKE; MAFAL Asterisk 604875 MYOSIN IXA; MYO9A Asterisk 604876 REGULATOR OF CALCINEURIN 2; RCAN2 THYROID HORMONE-RESPONSIVE GENE ZAKI4; ZAKI4;; DOWN SYNDROME CANDIDATE REGION 1-LIKE 1; DSCR1L1;; MYOCYTE-ENRICHED CALCINEURIN-INTERACTING PROTEIN 2; MCIP2;; CALCIPRESSIN 2; CSP2 Asterisk 604877 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN F; MAFF Asterisk 604878 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 6; SLC12A6 POTASSIUM-CHLORIDE COTRANSPORTER 3; KCC3 POTASSIUM-CHLORIDE COTRANSPORTER 3, ISOFORM A, INCLUDED; KCC3A, INCLUDED;; POTASSIUM-CHLORIDE COTRANSPORTER 3, ISOFORM B, INCLUDED; KCC3B, INCLUDED Asterisk 604879 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 7; SLC12A7 POTASSIUM-CHLORIDE COTRANSPORTER 4; KCC4 Caret 604880 MOVED TO 300609 Asterisk 604881 RABPHILIN 3A-LIKE; RPH3AL NOC2 Asterisk 604882 NEUROGENIN 3; NEUROG3 NGN3;; ATOH5 Asterisk 604883 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 2; GTF3C2 TRANSCRIPTION FACTOR IIIC, BETA SUBUNIT;; TFIIIC-BETA;; TFIIIC, 110-KD SUBUNIT Asterisk 604884 NEVER IN MITOSIS GENE A-RELATED KINASE 6; NEK6 NIMA-RELATED KINASE 6 Asterisk 604885 MYB-BINDING PROTEIN 1A; MYBBP1A P160 Asterisk 604886 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 8; EMC8 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 8;; COX4, NEIGHBOR OF; NOC4 Asterisk 604887 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2; MTHFD2 METHYLENETETRAHYDROFOLATE DEHYDROGENASE/METHENYLTETRAHYDROFOLATE CYCLOHYDROLASE, NAD(+)-DEPENDENT Asterisk 604888 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 3; GTF3C3 TRANSCRIPTION FACTOR IIIC, 102-KD SUBUNIT; TFIIIC102 Asterisk 604889 NEUROBEACHIN; NBEA FRAGILE SITE FRA13A, INCLUDED Asterisk 604890 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 5; GTF3C5 TRANSCRIPTION FACTOR IIIC, 63-KD SUBUNIT; TFIIIC63 Asterisk 604891 NCK-ASSOCIATED PROTEIN 1; NCKAP1 NAP1;; NCK-ASSOCIATED PROTEIN, 125-KD; NAP125 Asterisk 604892 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 4; GTF3C4 TRANSCRIPTION FACTOR IIIC, 90-KD SUBUNIT; TFIIIC90 Asterisk 604893 ANTISENSE IGF2R RNA, NONCODING; AIRN ANTISENSE IGF2R RNA; AIR Asterisk 604894 ONE CUT HOMEOBOX 2; ONECUT2 ONE CUT DOMAIN, FAMILY MEMBER 2; OC2 Asterisk 604895 T-BOX 21; TBX21 T-BOX EXPRESSED IN T CELLS; TBET Asterisk 604896 MKKS GENE; MKKS MKS;; BBS6 GENE; BBS6 Asterisk 604897 PREFOLDIN 1; PFDN1 Asterisk 604898 PREFOLDIN 4; PFDN4 C1 Asterisk 604899 PREFOLDIN 5; PFDN5 MM1 Asterisk 604900 DIACYLGLYCEROL O-ACYLTRANSFERASE 1; DGAT1 DGAT;; ACYL-CoA:DIACYLGLYCEROL ACYLTRANSFERASE;; ARGP1 Percent 604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC Asterisk 604902 BRF1 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF1 BRF1, S. CEREVISIAE, HOMOLOG OF;; BRF;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, RNA POLYMERASE III, SUBUNIT 2; TAF3B2;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE III, 90-KD;; GENERAL TRANSCRIPTION FACTOR 3B, 90-KD SUBUNIT;; GTF3B, 90-KD SUBUNIT;; TRANSCRIPTION FACTOR IIIB, 90-KD SUBUNIT; TFIIIB90;; TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 3C, FORMERLY; TAF3C, FORMERLY Asterisk 604903 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1A; TAF1A TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 48-KD; TAFI48;; SL1, 48-KD SUBUNIT Asterisk 604904 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1B; TAF1B TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 63-KD; TAFI63;; SL1, 63-KD SUBUNIT Asterisk 604905 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1C; TAF1C TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 110-KD; TAFI110;; SL1, 110-KD SUBUNIT Number Sign 604906 SCHIZOPHRENIA 9; SCZD9 SCHIZOPHRENIA 9 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED Asterisk 604907 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B; TNFRSF13B TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR; TACI Asterisk 604908 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 1; PPP4R1 PP4R1 Asterisk 604909 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 2; CNOT2 NEGATIVE REGULATOR OF TRANSCRIPTION 2, S. CEREVISIAE, HOMOLOG OF; NOT2 Asterisk 604910 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 3; CNOT3 NEGATIVE REGULATOR OF TRANSCRIPTION 3, S. CEREVISIAE, HOMOLOG OF; NOT3 Asterisk 604911 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 4; CNOT4 NEGATIVE REGULATOR OF TRANSCRIPTION 4, S. CEREVISIAE, HOMOLOG OF; NOT4 Asterisk 604912 TAF2 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 150-KD; TAF2 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2B; TAF2B;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 150-KD; TAFII150;; COFACTOR OF INITIATOR FUNCTION, 150-KD SUBUNIT; CIF150 Asterisk 604913 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 7; CNOT7 CCR4-ASSOCIATED FACTOR 1; CAF1;; CARBON CATABOLITE REPRESSOR 4-ASSOCIATED FACTOR 1 Asterisk 604914 JUMONJI DOMAIN-CONTAINING PROTEIN 6; JMJD6 PHOSPHATIDYLSERINE RECEPTOR; PSR Asterisk 604915 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 13; MAP3K13 LEUCINE ZIPPER-BEARING KINASE; LZK NULL 604916 HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION OKAMOTO SYNDROME Asterisk 604917 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 1; CNOT1 NEGATIVE REGULATOR OF TRANSCRIPTION 1, S. CEREVISIAE, HOMOLOG OF; NOT1 Asterisk 604918 PICCOLO, MOUSE, HOMOLOG OF; PCLO NULL 604919 BECKER NEVUS SYNDROME Caret 604920 MOVED TO 603218 Asterisk 604921 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 3; MAP4K3 MAPKKKK3;; GERMINAL CENTER KINASE-LIKE KINASE; GLK;; RAB8-INTERACTING PROTEIN-LIKE 1, FORMERLY; RAB8IPL1, FORMERLY NULL 604922 CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA Asterisk 604923 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 5; MAP4K5 MAPKKKK5 Asterisk 604924 PHOSPHORYLATED ADAPTOR FOR RNA EXPORT; PHAX RNA, U SMALL NUCLEAR, EXPORT ADAPTOR; RNUXA Asterisk 604925 RAB ACCEPTOR 1; RABAC1 PRENYLATED RAB ACCEPTOR 1; PRA1;; PRA1 DOMAIN FAMILY, MEMBER 1; PRAF1;; YIP3, YEAST, HOMOLOG OF Caret 604926 MOVED TO 300948 Asterisk 604927 C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; CTDP1 CTD OF POLR2A, PHOSPHATASE OF, SUBUNIT 1;; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1;; TFIIF-ASSOCIATING CTD PHOSPHATASE 1 TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM A, INCLUDED; FCP1A, INCLUDED;; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1, ISOFORM B, INCLUDED; FCP1B, INCLUDED Number Sign 604928 WOLFRAM SYNDROME 2; WFS2 Caret 604929 MOVED TO 181350 Asterisk 604930 NCK ADAPTOR PROTEIN 2; NCK2 NONCATALYTIC REGION OF TYROSINE KINASE, BETA;; NCK-BETA;; GRB4 Number Sign 604931 CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1 Asterisk 604932 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR GAMMA; PKIG Asterisk 604933 MutY, E. COLI, HOMOLOG OF; MUTYH MYH Asterisk 604934 TUBULIN-SPECIFIC CHAPERONE E; TBCE COFACTOR E Asterisk 604935 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 2; DMRT2 Asterisk 604936 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 1; KIR2DL1 NK-ASSOCIATED TRANSCRIPT 1; NKAT1;; CD158A Asterisk 604937 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 2; KIR2DL2 NK-ASSOCIATED TRANSCRIPT 6; NKAT6;; CD158B1 Asterisk 604938 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 3; KIR2DL3 NK-ASSOCIATED TRANSCRIPT 2; NKAT2;; P58;; CD158B2 NK-ASSOCIATED TRANSCRIPT 2A, INCLUDED; NKAT2A, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 2B, INCLUDED; NKAT2B, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 2delIg2, INCLUDED; NKAT2delIg2, INCLUDED Asterisk 604939 PHOSPHOLIPASE A2 RECEPTOR 1; PLA2R1 PHOSPHOLIPASE A2 RECEPTOR, 180-KD;; PLA2R Caret 604940 MOVED TO 601228 Asterisk 604941 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, ALPHA; PPP2R2A PR55-ALPHA;; B55-ALPHA Asterisk 604942 SYNTAPHILIN; SNPH Asterisk 604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5 PRESTIN; PRES SLC26A5A, INCLUDED;; SLC26A5B, INCLUDED;; SLC26A5C, INCLUDED;; SLC26A5D, INCLUDED Asterisk 604944 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, ALPHA; PPP2R3A PR72, INCLUDED;; PR130, INCLUDED Asterisk 604945 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 4; KIR2DL4 KIR103AS;; CD158D Asterisk 604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 1; KIR3DL1 NK-ASSOCIATED TRANSCRIPT 3; NKAT3;; NKB1;; AMB11;; CD158E1 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, SHORT CYTOPLASMIC TAIL, 1, INCLUDED; KIR3DS1, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 10, INCLUDED; NKAT10, INCLUDED;; CD158E2, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 3delIg1, INCLUDED; NKAT3delIg1, INCLUDED Asterisk 604947 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 2; KIR3DL2 NK-ASSOCIATED TRANSCRIPT 4; NKAT4;; CD158K NK-ASSOCIATED TRANSCRIPT 4A, INCLUDED; NKAT4A, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 4B, INCLUDED; NKAT4B, INCLUDED Asterisk 604948 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, BETA; GADD45B MYD118, MOUSE, HOMOLOG OF; MYD118 Asterisk 604949 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GENE GADD45, GAMMA; GADD45G GADD-RELATED PROTEIN, 17-KD; GRP17;; OIG37, MOUSE, HOMOLOG OF Asterisk 604950 PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PHTF1 PHTF Asterisk 604951 6-PHOSPHOGLUCONOLACTONASE; PGLS 6PGL Asterisk 604952 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 1; KIR2DS1 CD158H Asterisk 604953 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 2; KIR2DS2 NK-ASSOCIATED TRANSCRIPT 5; NKAT5;; CD158J NK-ASSOCIATED TRANSCRIPT 5delIg1, INCLUDED; NKAT5delIg1, INCLUDED;; NK-ASSOCIATED TRANSCRIPT 5delIg1/Ig2, INCLUDED; NKAT5delIg1/Ig2, INCLUDED Asterisk 604954 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 3; KIR2DS3 NK-ASSOCIATED TRANSCRIPT; NKAT7 Asterisk 604955 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 4; KIR2DS4 NK-ASSOCIATED TRANSCRIPT 8; NKAT8;; KKA3;; CD158I Asterisk 604956 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, SHORT CYTOPLASMIC TAIL, 5; KIR2DS5 NK-ASSOCIATED TRANSCRIPT 9; NKAT9;; CD158G Caret 604957 MOVED TO 604946 Asterisk 604958 ACTIN-LIKE 6A; ACTL6A BRG1-ASSOCIATED FACTOR, 53-KD; BAF53;; BAF53A;; ACTIN-RELATED PROTEIN, BETA;; ARPN-BETA Asterisk 604959 PHORBOL-12-MYRISTATE-13-ACETATE-INDUCED PROTEIN 1; PMAIP1 PMA-INDUCED PROTEIN 1;; ATL-DERIVED PMA-RESPONSIVE GENE; APR;; NOXA Asterisk 604960 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 2; PACSIN2 Asterisk 604961 PHOSPHODIESTERASE 11A; PDE11A PDE11A1 PDE11A2, INCLUDED;; PDE11A3, INCLUDED Asterisk 604962 T-CELL RECEPTOR-ASSOCIATED TRANSMEMBRANE ADAPTOR 1; TRAT1 T-CELL ANTIGEN RECEPTOR-INTERACTING MOLECULE;; TCR-INTERACTING MOLECULE; TRIM Asterisk 604963 PEPTIDOGLYCAN RECOGNITION PROTEIN 1; PGLYRP1 PGLYRP; PGRP;; PGRP, SHORT; PGRPS Asterisk 604964 SHP2-INTERACTING TRANSMEMBRANE ADAPTOR PROTEIN 1; SIT1 Asterisk 604965 SERINE/THREONINE PROTEIN KINASE 4; STK4 MAMMALIAN STERILE 20-LIKE 1; MST1;; KINASE RESPONSIVE TO STRESS 2; KRS2 Number Sign 604966 PROTOCADHERIN-ALPHA GENE CLUSTER; PCDHA@ PCDH-ALPHA GENE CLUSTER; PCDHA Number Sign 604967 PROTOCADHERIN-BETA GENE CLUSTER; PCDHB@ PCDH-BETA GENE CLUSTER; PCDHB Number Sign 604968 PROTOCADHERIN-GAMMA GENE CLUSTER; PCDHG@ PCDH-GAMMA GENE CLUSTER; PCDHG Asterisk 604969 SRC KINASE-ASSOCIATED PHOSPHOPROTEIN 1; SKAP1 SRC FAMILY-ASSOCIATED PHOSPHOPROTEIN 1; SCAP1;; SRC KINASE-ASSOCIATED PHOSPHOPROTEIN, 55-KD; SKAP55 Asterisk 604970 AURORA KINASE B; AURKB SERINE/THREONINE PROTEIN KINASE 12; STK12;; AURORA-RELATED KINASE 2; ARK2;; AURORA/IPL1-LIKE KINASE 2; AIK2;; AIM1, RAT, HOMOLOG OF; AIM1 Asterisk 604971 MYOD FAMILY INHIBITOR; MDFI Asterisk 604972 ORIGIN RECOGNITION COMPLEX, SUBUNIT 3, S. CEREVISIAE, HOMOLOG OF; ORC3 ORC3-LIKE; ORC3L;; LATHEO, DROSOPHILA, HOMOLOG OF; LAT Asterisk 604973 FICOLIN 3; FCN3 HAKATA ANTIGEN; HAKA1;; COLLAGEN/FIBRINOGEN DOMAIN-CONTAINING LECTIN 3 P35 Asterisk 604974 SRY-BOX 21; SOX21 SRY-RELATED HMG-BOX GENE 21;; SOX25 Asterisk 604975 SRY-BOX 5; SOX5 SRY-RELATED HMG-BOX GENE 5 LONG SOX5, INCLUDED;; L-SOX5, INCLUDED Plus 604976 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-3; PRKAG3 GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED, INCLUDED Asterisk 604977 SERINE/THREONINE PROTEIN KINASE 19; STK19 HLA-RP1 Asterisk 604978 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 5; CPSF5 PRECURSOR mRNA CLEAVAGE FACTOR Im, 25-KD SUBUNIT; CFIM25 Asterisk 604979 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 6; CPSF6 PRECURSOR mRNA CLEAVAGE FACTOR Im, 68-KD SUBUNIT; CFIM68 Asterisk 604980 GTPase-ACTIVATING PROTEIN, RAC, 1; RACGAP1 RAC GTPase-ACTIVATING PROTEIN 1;; RAC GTPase-ACTIVATING PROTEIN, MALE GERM CELL; MGCRACGAP;; CYK4, C. ELEGANS, HOMOLOG OF Asterisk 604981 WW DOMAIN-CONTAINING BINDING PROTEIN 4; WBP4 FORMIN-BINDING PROTEIN 21; FBP21 Asterisk 604982 HPS1 GENE; HPS1 PALE EAR, MOUSE, HOMOLOG OF Asterisk 604983 POLYMERASE, DNA, GAMMA-2; POLG2 POLG, ACCESSORY SUBUNIT;; POLG-BETA; POLGB Asterisk 604984 SERINE/THREONINE PROTEIN KINASE 24; STK24 MAMMALIAN STERILE 20-LIKE 3; MST3 MAMMALIAN STERILE 20-LIKE 3, ISOFORM B, INCLUDED; MST3B, INCLUDED Asterisk 604985 SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2 SPECTRIN, BETA-III;; GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 41; GTRAP41 Asterisk 604986 BRCA1-ASSOCIATED PROTEIN; BRAP BRAP2;; IMPEDES MITOGENIC SIGNAL PROPAGATION; IMP Asterisk 604987 C-TYPE LECTIN DOMAIN FAMILY 5, MEMBER A; CLEC5A LECTIN, C-TYPE, SUPERFAMILY MEMBER 5; CLECSF5;; MYELOID DAP12-ASSOCIATING LECTIN 1; MDL1 Asterisk 604988 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2B1; SLCO2B1 ORGANIC ANION TRANSPORTER B; OATPB;; ORGANIC ANION TRANSPORTER 2B1; OATP2B1;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 9, FORMERLY; SLC21A9, FORMERLY Asterisk 604989 SPONDIN 1; SPON1 F-SPONDIN, RAT, HOMOLOG OF;; KIAA0762 Asterisk 604990 SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 1; SLC9A3R1 SODIUM/HYDROGEN EXCHANGER REGULATORY FACTOR 1; NHERF1;; ERM-BINDING PHOSPHOPROTEIN, 50-KD; EBP50 Asterisk 604991 PROSTATE ANDROGEN-REGULATED TRANSCRIPT 1; PART1 Asterisk 604992 SARCALUMENIN; SRL Asterisk 604993 PRECURSOR mRNA-PROCESSING FACTOR 18, S. CEREVISIAE, HOMOLOG OF; PRPF18 PRP18 Asterisk 604994 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2; SIX2 Asterisk 604995 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 7; SLC22A7 ORGANIC ANION TRANSPORTER 2; OAT2 Asterisk 604996 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 3; FXYD3 PHOSPHOLEMMAN-LIKE; PLML;; MAMMARY TUMOR, 8-KD; MAT8 Asterisk 604997 DOCKING PROTEIN 2; DOK2 DOCKING PROTEIN, 56-KD;; p56DOK Asterisk 604998 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I; CAMK1 CAMKI Asterisk 604999 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1; SHANK1 SOMATOSTATIN RECEPTOR-INTERACTING PROTEIN; SSTRIP Asterisk 605000 CORONIN 1A; CORO1A CORONIN 1;; CORONIN-LIKE PROTEIN A; CLIPINA;; TRYPTOPHANE ASPARTATE-CONTAINING COAT PROTEIN; TACO Asterisk 605001 ANGIOPOIETIN-LIKE 2; ANGPTL2 ANGIOPOIETIN-RELATED PROTEIN 2; ARP2 Asterisk 605002 CORONIN 2B; CORO2B CORONIN-LIKE PROTEIN C; CLIPINC Asterisk 605003 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6 SUMO1-SPECIFIC PROTEASE 1; SUSP1; SSP1 SUSP1/TCBA1 FUSION GENE, INCLUDED Asterisk 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B Asterisk 605005 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 7; GALNT7 GalNAc TRANSFERASE 7; GalNAcT7 Asterisk 605006 FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS 2; FRAT2 Asterisk 605007 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 5; ADAMTS5 AGGRECANASE 2;; ADAMTS11, FORMERLY Asterisk 605008 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 6; ADAMTS6 Asterisk 605009 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 7; ADAMTS7 Asterisk 605010 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 5; SPINK5 LYMPHOEPITHELIAL KAZAL-TYPE-RELATED INHIBITOR; LEKTI Asterisk 605011 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 3; ADAMTS3 Asterisk 605012 SUPPRESSOR OF TY 16, S. CEREVISIAE, HOMOLOG OF; SUPT16H CHROMATIN-SPECIFIC TRANSCRIPTION ELONGATION FACTOR, 140-KD SUBUNIT;; FACT, 140-KD SUBUNIT;; SPT16, S. CEREVISIAE, HOMOLOG OF Number Sign 605013 MICROHYDRANENCEPHALY; MHAC HYDRANENCEPHALY AND MICROCEPHALY Asterisk 605014 SYNTAXIN 11; STX11 Asterisk 605015 ZINC FINGER PROTEIN 214; ZNF214 Asterisk 605016 ZINC FINGER PROTEIN 215; ZNF215 Asterisk 605017 PRE-B-LYMPHOCYTE GENE 3; VPREB3 Asterisk 605018 CYLD GENE; CYLD CYLD1;; KIAA0849 Number Sign 605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 HYPOLIPIDEMIA, FAMILIAL, COMBINED Asterisk 605020 VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF; VSX1 RETINAL INNER NUCLEAR LAYER HOMEOBOX; RINX Number Sign 605021 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME EIM Asterisk 605022 p21 PROTEIN-ACTIVATED KINASE 2; PAK2 p21 CDC42/RAC1-ACTIVATED KINASE 1;; p21-ACTIVATED KINASE, 65-KD; PAK65 Asterisk 605023 HYDROXYACID OXIDASE 1; HAO1 HAOX1;; GLYCOLATE OXIDASE 1; GOX1;; GOX Asterisk 605024 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 8; SLC4A8 KIAA0739;; KNBC3 Asterisk 605025 INTEGRIN, ALPHA-3; ITGA3 CD49C;; VERY LATE ACTIVATION PROTEIN 3 RECEPTOR, ALPHA-3 SUBUNIT; VLA3;; GALACTOPROTEIN B3; GAPB3 NULL 605026 DIABETES MELLITUS, CONGENITAL AUTOIMMUNE Number Sign 605027 LYMPHOMA, NON-HODGKIN, FAMILIAL NON-HODGKIN LYMPHOMA; NHL NULL 605028 LOW DENSITY LIPOPROTEIN CHOLESTEROL, MILD ELEVATION OF LDLC, MILD ELEVATION OF Asterisk 605029 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY F, MEMBER 1; KLRF1 NKp80;; C-TYPE LECTIN DOMAIN FAMILY 5, MEMBER C; CLEC5C Asterisk 605030 SERINE/THREONINE PROTEIN KINASE 3; STK3 MAMMALIAN STERILE 20-LIKE 2; MST2;; KINASE RESPONSIVE TO STRESS 1; KRS1 Asterisk 605031 POLO-LIKE KINASE 4; PLK4 SERINE/THREONINE PROTEIN KINASE 18; STK18;; SAK, MOUSE, HOMOLOG OF; SAK Asterisk 605032 COMPLEXIN 1; CPLX1 CPX1;; SYNAPHIN 2 Asterisk 605033 COMPLEXIN 2; CPLX2 CPX2;; SYNAPHIN 1 Asterisk 605034 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23, YEAST, HOMOLOG OF; TIMM23 TIM23 Asterisk 605035 WAS PROTEIN FAMILY, MEMBER 1; WASF1 WASP FAMILY, MEMBER 1;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN; WAVE;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; WAVE1;; SCAR, DICTYOSTELIUM, HOMOLOG OF, 1; SCAR1 Asterisk 605036 ZINC FINGER PROTEIN 219; ZNF219 Asterisk 605037 KINESIN FAMILY MEMBER 17; KIF17 KIAA1405 Asterisk 605038 POSTMEIOTIC SEGREGATION INCREASED 2-LIKE 1; PMS2L1 PMS3 Number Sign 605039 BOHRING-OPITZ SYNDROME; BOPS C-LIKE SYNDROME;; OPITZ TRIGONOCEPHALY-LIKE SYNDROME;; BOHRING SYNDROME NULL 605040 CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA CHZAM Number Sign 605041 BROOKE-SPIEGLER SYNDROME; BRSS BSS;; SPIEGLER-BROOKE SYNDROME; SBS Asterisk 605042 MEDIATOR COMPLEX SUBUNIT 23; MED23 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 3; CRSP3;; CRSP, 130-KD SUBUNIT; CRSP130;; DRIP130;; SUR2 Asterisk 605043 MEDIATOR COMPLEX SUBUNIT 26; MED26 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 7; CRSP7;; CRSP, 70-KD SUBUNIT; CRSP70 Asterisk 605044 MEDIATOR COMPLEX SUBUNIT 27; MED27 TRAP/SMCC/PC2 SUBUNIT p37; TRAP37;; COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 8; CRSP8;; CRSP, 34-KD SUBUNIT; CRSP34 Asterisk 605045 MEDIATOR COMPLEX SUBUNIT 7; MED7 COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 9; CRSP9;; CRSP, 33-KD SUBUNIT; CRSP33 Asterisk 605046 UBIQUILIN 1; UBQLN1 DA41, RAT, HOMOLOG OF; DA41;; PLIC1, MOUSE, HOMOLOG OF; PLIC1;; UBQN, DROSOPHILA, HOMOLOG OF; UBQN Asterisk 605047 INTERFERON REGULATORY FACTOR 7; IRF7 IRF7A IRF7B, INCLUDED;; IRF7C, INCLUDED;; IRF7H, INCLUDED Asterisk 605048 INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE OF, EPSILON; IKBKE I-KAPPA-B KINASE-EPSILON; IKKE;; IKK-EPSILON;; INDUCIBLE I-KAPPA-B KINASE; IKKI;; KIAA0151 Asterisk 605049 TWISTED GASTRULATION HOMOLOG 1; TWSG1 TSG Caret 605050 MOVED TO 142750 Asterisk 605051 CANNABINOID RECEPTOR 2; CNR2 CB2 RECEPTOR; CB2;; CX5 Asterisk 605052 TAR RNA-BINDING PROTEIN 1; TARBP1 TRP185 Asterisk 605053 TAR RNA-BINDING PROTEIN 2; TARBP2 TRBP;; LOQUACIOUS, DROSOPHILA, HOMOLOG OF; LOQS Asterisk 605054 SMALL EDRK-RICH FACTOR 2; SERF2 H4F5REL Percent 605055 ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY Asterisk 605056 WAS GENE-LIKE; WASL N-WASP; NWASP Asterisk 605057 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF, A; TIMM17A TIM17A;; TIM17 Asterisk 605058 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 44, YEAST, HOMOLOG OF; TIMM44 TIM44 Caret 605059 MOVED TO 123930 Asterisk 605060 SEDOHEPTULOKINASE; SHPK SHK;; CARBOHYDRATE KINASE-LIKE; CARKL Asterisk 605061 TERF2-INTERACTING PROTEIN; TERF2IP TRF2-INTERACTING TELOMERIC PROTEIN;; RAP1, YEAST, HOMOLOG OF; RAP1 Asterisk 605062 TASTE RECEPTOR, TYPE 2, MEMBER 5; TAS2R5 T2R5 Asterisk 605063 STRESS-INDUCED PHOSPHOPROTEIN 1; STIP1 STI1, YEAST, HOMOLOG OF;; HSP70/HSP90-ORGANIZING PROTEIN; HOP Asterisk 605064 KINESIN FAMILY MEMBER 23; KIF23 KINESIN-LIKE 5; KNSL5;; MITOTIC KINESIN-LIKE 1; MKLP1;; ZEN4, C. ELEGANS, HOMOLOG OF Asterisk 605065 CELL DIVISION CYCLE 37, S. CEREVISIAE, HOMOLOG OF; CDC37 Asterisk 605066 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, EPSILON ISOFORM; YWHAE 14-3-3 PROTEIN, EPSILON ISOFORM;; 14-3-3-EPSILON NULL 605067 TRICUSPID ATRESIA Asterisk 605068 WAS PROTEIN FAMILY, MEMBER 3; WASF3 WASP FAMILY, MEMBER 3;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 3; WAVE3;; SCAR, DICTYOSTELIUM, HOMOLOG OF, 3; SCAR3 Asterisk 605069 MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE 2; MKNK2 MAPK-INTERACTING KINASE 2; MNK2;; G PROTEIN-COUPLED RECEPTOR KINASE 7, FORMERLY; GPRK7, FORMERLY MKNK2A, INCLUDED;; MKNK2B, INCLUDED Asterisk 605070 EARLY ENDOSOME ANTIGEN 1; EEA1 EARLY ENDOSOME ANTIGEN, 162-KD Asterisk 605071 REGULATOR OF G PROTEIN SIGNALING 19; RGS19 G PROTEIN, ALPHA-INTERACTING PROTEIN; GAIP Asterisk 605072 GIPC PDZ DOMAIN-CONTAINING FAMILY, MEMBER 1; GIPC1 GAIP C-TERMINUS-INTERACTING PROTEIN 1;; GIPC;; RGS19-INTERACTING PROTEIN 1; RGS19IP1;; CHROMOSOME 19 OPEN READING FRAME 3; C19ORF3;; GLUT1 C-TERMINUS-BINDING PROTEIN; GLUT1CBP;; SYNECTIN Asterisk 605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37 MULIBREY NANISM GENE; MUL;; KIAA0898 Number Sign 605074 RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1 Caret 605075 MOVED TO 605074 Asterisk 605076 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 2; SNAPC2 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 45-KD SUBUNIT; SNAP45;; PSE-BINDING TRANSCRIPTION FACTOR, DELTA;; PTF-DELTA Asterisk 605077 DNMT1-ASSOCIATED PROTEIN 1; DNMAP1 DNA METHYLTRANSFERASE 1-ASSOCIATED PROTEIN 1; DMAP1 Asterisk 605078 TAR DNA-BINDING PROTEIN; TARDBP TAR DNA-BINDING PROTEIN, 43-KD; TDP43 Asterisk 605079 SAL-LIKE 3; SALL3 Asterisk 605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3 Asterisk 605081 CYTOHESIN 3; CYTH3 PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 3; PSCD3;; ARF NUCLEOTIDE-BINDING SITE OPENER 3; ARNO3;; GRP1, MOUSE, HOMOLOG OF; GRP1 Asterisk 605082 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1; RASSF1 RASSF1A Asterisk 605083 FRIZZLED-RELATED PROTEIN; FRZB FRIZZLED-RELATED PROTEIN 1; FRZB1;; SECRETED FRIZZLED-RELATED PROTEIN 3; SFRP3 Asterisk 605084 MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 1; MICU1 CALCIUM-BINDING ATOPY-RELATED AUTOANTIGEN 1; CBARA1 Asterisk 605085 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1; TREM1 Asterisk 605086 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 2; TREM2 Asterisk 605087 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS K PROTEIN; PIGK GPI8, YEAST, HOMOLOG OF; GPI8 Asterisk 605088 MAJOR VAULT PROTEIN, RAT, HOMOLOG OF; MVP LUNG RESISTANCE-RELATED PROTEIN; LRP Asterisk 605089 MITOCHONDRIAL RIBOSOMAL PROTEIN L40; MRPL40 NUCLEAR LOCALIZATION SIGNAL DELETED IN VELOCARDIOFACIAL SYNDROME; NLVCF;; MRPL22 Asterisk 605090 RETINOIC ACID RECEPTOR RESPONDER 1; RARRES1 TAZAROTENE-INDUCED GENE 1; TIG1 Asterisk 605091 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 2; FGD2 FGD1 FAMILY, MEMBER 2 Asterisk 605092 RETINOIC ACID RECEPTOR RESPONDER 3; RARRES3 TAZAROTENE-INDUCED GENE 3; TIG3;; RETINOID-INDUCIBLE GENE 1; RIG1 Asterisk 605093 SH2B ADAPTOR PROTEIN 3; SH2B3 LYMPHOCYTE ADAPTOR PROTEIN; LNK Asterisk 605094 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 2; STEAP2 SIX-TRANSMEMBRANE PROTEIN OF PROSTATE 1; STAMP1;; PROSTATE CANCER-ASSOCIATED PROTEIN 1; PCANAP1;; IPCA1 Asterisk 605095 PROSTATE CANCER-ASSOCIATED PROTEIN 2; PCANAP2 IPCA2 Asterisk 605096 ANOCTAMIN 7; ANO7 TRANSMEMBRANE PROTEIN 16G; TMEM16G;; PROSTATE CANCER-ASSOCIATED PROTEIN 5; PCANAP5;; IPCA5;; DRESDEN TRANSMEMBRANE PROTEIN OF PROSTATE; DTMPP;; NOVEL GENE EXPRESSED IN PROSTATE; NGEP Asterisk 605097 SOLUTE CARRIER FAMILY 45, MEMBER 3; SLC45A3 PROSTATE CANCER-ASSOCIATED PROTEIN 6; PCANAP6;; PROSTEIN; PRST;; IPCA6 Caret 605098 MOVED TO 604146 Asterisk 605099 PROSTATE CANCER-ASSOCIATED PROTEIN 8; PCANAP8 IPCA8 Asterisk 605100 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1D; PPM1D PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1D;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, DELTA ISOFORM;; WILDTYPE p53-INDUCED PHOSPHATASE 1; WIP1 Asterisk 605101 TAK1-BINDING PROTEIN 2; TAB2 TGF-BETA-ACTIVATED KINASE 1/MAP3K7-BINDING PROTEIN 2;; TAK1/MAP3K7-BINDING PROTEIN 2;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 2; MAP3K7IP2;; KIAA0733 Asterisk 605102 MANNAN-BINDING LECTIN SERINE PROTEASE 2; MASP2 MAP19, INCLUDED Asterisk 605103 NEUROMEDIN U; NMU Asterisk 605104 RNA-BINDING PROTEIN FOX1, C. ELEGANS, HOMOLOG OF, 1; RBFOX1 ATAXIN 2-BINDING PROTEIN 1; A2BP1;; FOX1;; HRNBP1 NULL 605105 EARLY RESPONSE TO NEURAL INDUCTION GENE ERNI Asterisk 605106 LYSOPHOSPHATIDIC ACID RECEPTOR 3; LPAR3 ENDOTHELIAL DIFFERENTIATION GENE 7; EDG7;; LPA RECEPTOR EDG7;; LPA3 Asterisk 605107 ENDOTHELIAL DIFFERENTIATION-RELATED FACTOR 1; EDF1 Asterisk 605108 NEUROMEDIN U RECEPTOR 2; NMUR2 NMU2R;; GROWTH HORMONE SECRETAGOGUE RECEPTOR FAMILY, MEMBER 4; FM4 Asterisk 605109 HECT DOMAIN AND RCC1-LIKE DOMAIN 1; HERC1 P532 Asterisk 605110 LYSOPHOSPHATIDIC ACID RECEPTOR 2; LPAR2 LPA2;; ENDOTHELIAL DIFFERENTIATION GENE 4; EDG4;; LYSOPHOSPHATIDIC ACID RECEPTOR EDG4;; LPA RECEPTOR EDG4 Asterisk 605111 SPHINGOSINE-1-PHOSPHATE RECEPTOR 2; S1PR2 ENDOTHELIAL DIFFERENTIATION GENE 5; EDG5;; S1P RECEPTOR 2; S1P2 Asterisk 605112 TROPOMODULIN 3; TMOD3 TROPOMODULIN, UBIQUITOUS; UTMOD TMOD3/CYP19A1 FUSION GENE, INCLUDED Asterisk 605113 ALPHA-AMINOADIPIC SEMIALDEHYDE SYNTHASE; AASS Asterisk 605114 SPO11, S. CEREVISIAE, HOMOLOG OF; SPO11 TOPOISOMERASE VI-A; TOPOVIA Number Sign 605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY Asterisk 605116 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 9; CHRNA9 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-9 SUBUNIT Asterisk 605117 SUPPRESSOR OF CYTOKINE SIGNALING 2; SOCS2 STAT-INDUCED STAT INHIBITOR 2; SSI2; STATI2;; CYTOKINE-INDUCIBLE SH2 PROTEIN 2; CIS2 Asterisk 605118 SUPPRESSOR OF CYTOKINE SIGNALING 6; SOCS6 STAT-INDUCED STAT INHIBITOR 4; SSI4; STAI4;; CYTOKINE-INDUCIBLE SH2 PROTEIN 4; CIS4;; SUPPRESSOR OF CYTOKINE SIGNALING 4, FORMERLY; SOCS4, FORMERLY Asterisk 605119 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1G; PPM1G PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1G;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, GAMMA ISOFORM;; PROTEIN PHOSPHATASE 2C, GAMMA ISOFORM; PP2CG;; PP2C-GAMMA Asterisk 605120 GROWTH/DIFFERENTIATION FACTOR 2; GDF2 BONE MORPHOGENETIC PROTEIN 9; BMP9 Asterisk 605121 RRN3, S. CEREVISIAE, HOMOLOG OF; RRN3 RNA POLYMERASE I TRANSCRIPTION FACTOR RRN3;; TRANSCRIPTION INITIATION FACTOR IA; TIFIA Asterisk 605122 SUV3-LIKE 1; SUPV3L1 S. CEREVISIAE SUPPRESSOR OF VAR1 3-LIKE 1 Asterisk 605123 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 1; SPINT1 HEPATOCYTE GROWTH FACTOR ACTIVATOR INHIBITOR; HAI Asterisk 605124 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 2; SPINT2 HEPATOCYTE GROWTH FACTOR ACTIVATOR INHIBITOR 2; HAI2;; BIKUNIN, PLACENTAL Asterisk 605125 GABA-A RECEPTOR-ASSOCIATED PROTEIN; GABARAP Asterisk 605126 FOUR-AND-A-HALF LIM DOMAINS 5; FHL5 ACTIVATOR OF CREM IN TESTIS; ACT Asterisk 605127 OPTICIN; OPTC Asterisk 605128 GUANYLATE CYCLASE ACTIVATOR 1C; GUCA1C GUANYLATE CYCLASE-ACTIVATING PROTEIN, PHOTORECEPTOR 3; GCAP3 Asterisk 605129 PROTEASOME ACTIVATOR SUBUNIT 3; PSME3 PROTEASOME ACTIVATOR 28-GAMMA; PA28G;; PA28-GAMMA;; REG-GAMMA;; KI ANTIGEN Number Sign 605130 WIEDEMANN-STEINER SYNDROME; WDSTS HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY Asterisk 605131 WW DOMAIN-CONTAINING OXIDOREDUCTASE; WWOX FRAGILE SITE FRA16D OXIDOREDUCTASE; FOR;; WOX1 FRAGILE SITE 16q23.2, INCLUDED; FRA16D, INCLUDED Asterisk 605132 TRANSDUCIN-LIKE ENHANCER OF SPLIT 4; TLE4 ENHANCER OF SPLIT GROUCHO 4; ESG4;; GROUCHO-RELATED GENE 4; GRG4 Asterisk 605133 NUCLEAR CAP-BINDING PROTEIN 2; NCBP2 NUCLEAR CAP-BINDING PROTEIN, 20-KD;; CAP-BINDING PROTEIN, 20-KD; CBP20;; NUCLEAR CAP-BINDING PROTEIN-INTERACTING PROTEIN 1; NIP1 Asterisk 605134 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, CYTOPLASMIC, 1; PITPNC1 RETINAL DEGENERATION GENE B, DROSOPHILA, HOMOLOG OF, BETA; RDGBB Caret 605135 MOVED TO 172100 Caret 605136 MOVED TO 604974 Caret 605137 MOVED TO 601297 Asterisk 605138 ORNITHINE DECARBOXYLASE ANTIZYME 3; OAZ3 ANTIZYME 3; AZ3 Asterisk 605139 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 2; CCT2 CHAPERONIN CONTAINING TCP1, SUBUNIT 2;; CCT-BETA; CCTB Asterisk 605140 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 7; CCT7 CHAPERONIN CONTAINING TCP1, SUBUNIT 7;; CCT-ETA; CCTH Asterisk 605141 PRE-B-LYMPHOCYTE GENE 1; VPREB1 VPREB; IGVPB;; IMMUNOGLOBULIN IOTA POLYPEPTIDE CHAIN; IGI Asterisk 605142 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 4; CCT4 CHAPERONIN CONTAINING TCP1, SUBUNIT 4;; CCT-DELTA; CCTD;; STIMULATOR OF TAR RNA-BINDING PROTEINS; SRB Asterisk 605143 ACTIN-RELATED PROTEIN 1A; ACTR1A ARP1;; CENTRACTIN, ALPHA Asterisk 605144 ACTIN-RELATED PROTEIN 1B; ACTR1B ARP1B;; CENTRACTIN, BETA;; CTRN2 Asterisk 605145 ANK, MOUSE, HOMOLOG OF; ANKH HANK Asterisk 605146 SPHINGOSINE-1-PHOSPHATE RECEPTOR 5; S1PR5 ENDOTHELIAL DIFFERENTIATION GENE 8; EDG8;; S1P RECEPTOR 5; S1P5 Asterisk 605147 LEUKOCYTE CELL-DERIVED CHEMOTAXIN 1; LECT1 CHONDROMODULIN I; CHM1 CHONDROMODULIN I PRECURSOR, INCLUDED Asterisk 605148 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 6; GALNT6 GalNAc TRANSFERASE 6; GalNAcT6 Asterisk 605149 CHEMOKINE, CXC MOTIF, LIGAND 13; CXCL13 SMALL INDUCIBLE CYTOKINE SUBFAMILY B, MEMBER 13; SCYB13;; B CELL-ATTRACTING CHEMOKINE 1; BCA1;; B-LYMPHOCYTE CHEMOATTRACTANT; BLC Caret 605150 MOVED TO 601297 Caret 605151 MOVED TO 604747 Asterisk 605152 COILED-COIL DOMAIN-CONTAINING PROTEIN 19; CCDC19 NASOPHARYNGEAL EPITHELIUM-SPECIFIC PROTEIN 1; NESG1 Asterisk 605153 RECEPTOR ACTIVITY-MODIFYING PROTEIN 1; RAMP1 Asterisk 605154 RECEPTOR ACTIVITY-MODIFYING PROTEIN 2; RAMP2 Asterisk 605155 RECEPTOR ACTIVITY-MODIFYING PROTEIN 3; RAMP3 Caret 605156 MOVED TO 259600 Asterisk 605157 p53-RESPONSIVE GENE 1 PRG1 Asterisk 605158 PEROXIDASIN, DROSOPHILA, HOMOLOG OF; PXDN PXN;; p53-RESPONSIVE GENE 2; PRG2;; VASCULAR PEROXIDASE 1; VPO1;; MELANOMA-ASSOCIATED GENE 50; MG50;; D2S448 Asterisk 605159 APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 2; AIFM2 p53-RESPONSIVE GENE 3; PRG3 Asterisk 605160 p53-RESPONSIVE GENE 4 PRG4;; FLJ36000 Asterisk 605161 WAP 4-DISULFIDE CORE DOMAIN 5; WFDC5 p53-RESPONSIVE GENE 5; PRG5;; WHEY ACIDIC PROTEIN 1; WAP1 Asterisk 605162 GROWTH ARREST- AND DNA DAMAGE-INDUCIBLE GADD45G-INTERACTING PROTEIN; GADD45GIP1 p53-RESPONSIVE GENE 6; PRG6;; CR6-INTERACTING FACTOR 1; CRIF1 Asterisk 605163 CHEMOKINE, CXC MOTIF, RECEPTOR 6; CXCR6 G PROTEIN-COUPLED RECEPTOR STRL33; STRL33;; BONZO Asterisk 605164 HISTONE DEACETYLASE 2; HDAC2 YY1-ASSOCIATED FACTOR 1; YAF1 Asterisk 605165 ZINC FINGER PROTEIN 278; ZNF278 POZ-, AT HOOK-, AND ZINC FINGER-CONTAINING PROTEIN; PATZ;; MAZ-RELATED FACTOR; MAZR;; ZINC FINGER SARCOMA GENE; ZSG ZNF278/EWS FUSION GENE, INCLUDED;; ZNF278/UQCRH FUSION GENE, INCLUDED Asterisk 605166 HISTONE DEACETYLASE 3; HDAC3 Asterisk 605167 B MELANOMA ANTIGEN; BAGE BAGE FAMILY, MEMBER 1; BAGE1 Asterisk 605168 FATTY ACID-BINDING PROTEIN 5; FABP5 FATTY ACID-BINDING PROTEIN, PSORIASIS-ASSOCIATED; PAFABP;; FATTY ACID-BINDING PROTEIN, EPIDERMAL; EFABP Asterisk 605169 E74-LIKE FACTOR 5; ELF5 EPITHELIUM-SPECIFIC ETS FACTOR 2; ESE2 Asterisk 605170 ETOPOSIDE-INDUCED 1.4 mRNA; EI24 EI24, MOUSE, HOMOLOG OF;; p53-INDUCED GENE 8; PIG8 Asterisk 605171 TUMOR PROTEIN p53-INDUCIBLE PROTEIN 3; TP53I3 p53-INDUCED GENE 3; PIG3 Asterisk 605172 PROSTAGLANDIN E SYNTHASE; PTGES PGES;; PROSTAGLANDIN E SYNTHASE, MICROSOMAL; MPGES;; p53-INDUCED GENE 12; PIG12;; MGST1-LIKE 1; MGST1L1 Asterisk 605173 ECTODERMAL-NEURAL CORTEX 1; ENC1 p53-INDUCED GENE 10; PIG10;; NUCLEAR RESTRICTED PROTEIN/BRAIN; NRPB Asterisk 605174 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 1; ADAMTS1 METH1 Asterisk 605175 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 8; ADAMTS8 METH2 Asterisk 605176 HYDROXYACID OXIDASE 2; HAO2 HAOX2;; HYDROXYACID OXIDASE, LONG-CHAIN Caret 605177 REMOVED FROM DATABASE Asterisk 605178 GROWTH ARREST-SPECIFIC 8; GAS8 GROWTH ARREST-SPECIFIC 11, FORMERLY; GAS11, FORMERLY Asterisk 605179 GAS8 ANTISENSE RNA 1, NONCODING; GAS8AS1 CHROMOSOME 16 OPEN READING FRAME 3; C16ORF3 Asterisk 605180 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 2; SLC38A2 AMINO ACID TRANSPORTER A2; ATA2;; SODIUM-DEPENDENT NEUTRAL AMINO ACID TRANSPORTER 2; SNAT2 Asterisk 605181 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 3; TM7SF3 Asterisk 605182 RAS p21 PROTEIN ACTIVATOR 3; RASA3 GTPase-ACTIVATING PROTEIN 1 FAMILY, INOSITOL 1,3,4,5-TETRAKISPHOSPHATE-BINDING PROTEIN;; GAP1(IP4BP) Asterisk 605183 CALMODULIN-LIKE 5; CALML5 CALMODULIN-LIKE SKIN PROTEIN; CLSP Asterisk 605184 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1; PAIP1 POLY(A)-BINDING PROTEIN-INTERACTING PROTEIN 1;; PABP-INTERACTING PROTEIN 1 Asterisk 605185 DELTA-LIKE 4; DLL4 Asterisk 605186 WNT INHIBITORY FACTOR 1; WIF1 Asterisk 605187 G PROTEIN-COUPLED RECEPTOR 27; GPR27 SUPERCONSERVED RECEPTOR EXPRESSED IN BRAIN 1; SREB1 Asterisk 605188 G PROTEIN-COUPLED RECEPTOR 85; GPR85 SUPERCONSERVED RECEPTOR EXPRESSED IN BRAIN 2; SREB2 Asterisk 605189 DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1 Asterisk 605190 TRANSLOCATION-ASSOCIATING MEMBRANE PROTEIN 1; TRAM1 Asterisk 605191 BTAF1 RNA POLYMERASE II, B-TFIID TRANSCRIPTION FACTOR-ASSOCIATED, 170-KD; BTAF1 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, RNA POLYMERASE II, 170-KD;; TAFII170;; TAF172;; MOT1, YEAST, HOMOLOG OF Number Sign 605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 Asterisk 605193 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 3; DIRAS3 DISTINCT SUBGROUP OF THE RAS FAMILY, MEMBER 3;; RAS HOMOLOG GENE FAMILY, MEMBER I; ARHI Asterisk 605194 CRYPTIC PROTEIN; CFC1 CRYPTIC, MOUSE, HOMOLOG OF;; CRYPTIC Asterisk 605195 MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2 MESODERM POSTERIOR PROTEIN 2 Asterisk 605196 COQ3, S. CEREVISIAE, HOMOLOG OF; COQ3 METHYLTRANSFERASE COQ3 Asterisk 605197 KYNURENINASE; KYNU L-KYNURENINE HYDROLASE Asterisk 605198 TERMINAL NUCLEOTIDYLTRANSFERASE 4A; TENT4A POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 7; PAPD7;; PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 7;; POLYMERASE, DNA, SIGMA; POLS;; TOPOISOMERASE-RELATED FUNCTION PROTEIN 4-1;; TRF4, S. CEREVISIAE, HOMOLOG OF; TRF4 Asterisk 605199 SPLICING FACTOR, PROLINE- AND GLUTAMINE-RICH; SFPQ POLYPYRIMIDINE TRACT-BINDING PROTEIN-ASSOCIATED SPLICING FACTOR; PSF;; PTB-ASSOCIATED SPLICING FACTOR SFPQ/TFE3 FUSION GENE, INCLUDED Asterisk 605200 HECT DOMAIN AND RCC1-LIKE DOMAIN 3; HERC3 Percent 605201 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 14; HDLCQ14 Asterisk 605202 N-ACETYLNEURAMINIC ACID PHOSPHATE SYNTHASE; NANS SIALIC ACID SYNTHASE; SAS Caret 605203 MOVED TO 263650 Asterisk 605204 TORSIN 1A; TOR1A DYT1 GENE Asterisk 605205 ADENYLATE CYCLASE 10; ADCY10 SOLUBLE ADENYLYL CYCLASE; SAC;; ADENYLYL CYCLASE, SOLUBLE Asterisk 605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 4; HCN4 Asterisk 605207 CYTOCHROME P450, SUBFAMILY XXVIB, POLYPEPTIDE 1; CYP26B1 CYTOCHROME P450, SUBFAMILY XXVIA, POLYPEPTIDE 2; CYP26A2;; P450, RETINOIC ACID-INACTIVATING, 2; P450RAI2 Asterisk 605208 SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 7; SLC17A7 SOLUTE CARRIER FAMILY 17 (SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER), MEMBER 7;; SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER, BRAIN;; BRAIN SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER; BNPI;; VESICULAR GLUTAMATE TRANSPORTER 1; VGLUT1 Asterisk 605209 CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR Asterisk 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1 Asterisk 605211 BARH-LIKE 1; BARHL1 Asterisk 605212 BARH-LIKE 2; BARHL2 Asterisk 605213 3-PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1 PDK1 Asterisk 605214 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 2; KCNMB2 Asterisk 605215 SRC KINASE-ASSOCIATED PHOSPHOPROTEIN 2; SKAP2 SKAP55-RELATED PROTEIN; SKAP55R Asterisk 605216 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4 APC-STIMULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR; ASEF;; ASEF1 Asterisk 605217 SHC TRANSFORMING PROTEIN 2; SHC2 SHC PROTEIN B; SHCB;; SHC-LIKE PROTEIN SCK; SCK;; SHC ADAPTOR HOMOLOG, NEURONAL Number Sign 605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2 Asterisk 605219 DIRECT IAP-BINDING PROTEIN WITH LOW pI; DIABLO SECOND MITOCHONDRIA-DERIVED ACTIVATOR OF CASPASE; SMAC Asterisk 605220 APOLIPOPROTEIN B RECEPTOR; APOBR APOLIPOPROTEIN B48 RECEPTOR; APOB48R Asterisk 605221 SPLICING FACTOR, SERINE/ARGININE-RICH, 10; SRSF10 SERINE/ARGININE-RICH SPLICING FACTOR 10;; FUS-INTERACTING PROTEIN 1; FUSIP1;; TLS-ASSOCIATED PROTEIN WITH SERINE-ARGININE REPEATS; TASR;; SPLICING FACTOR, ARGININE/SERINE-RICH, 38-KD; SRp38;; SR REPRESSOR PROTEIN, 40-KD; SRRp40;; NEURAL-SALIENT SR-RICH PROTEIN; NSSR;; SPLICING FACTOR, ARGININE/SERINE-RICH, 13A; SFRS13A TLS-ASSOCIATED PROTEIN WITH SERINE-ARGININE REPEATS, ISOFORM 1, INCLUDED; TASR1, INCLUDED;; TLS-ASSOCIATED PROTEIN WITH SERINE-ARGININE REPEATS, ISOFORM 2, INCLUDED; TASR2, INCLUDED Asterisk 605222 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 3; KCNMB3 Asterisk 605223 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 4; KCNMB4 Asterisk 605224 RHODOPSIN HOMOLOG, RETINAL PIGMENT EPITHELIUM-DERIVED; RRH RHODOPSIN HOMOLOG, RPE-DERIVED;; PEROPSIN Percent 605225 INFLAMMATORY BOWEL DISEASE 7; IBD7 Asterisk 605226 RE REPEATS-ENCODING GENE; RERE ARGININE-GLUTAMIC ACID REPEATS-ENCODING GENE;; ATROPHIN 1-ASSOCIATED PROTEIN;; ATROPHIN-RELATED PROTEIN;; ATROPHIN 2 Asterisk 605227 REVERSION-INDUCING CYSTEINE-RICH PROTEIN WITH KAZAL MOTIFS; RECK SUPPRESSOR OF TUMORIGENICITY 15; ST15 Asterisk 605228 COREPRESSOR INTERACTING WITH RBPJ, 1; CIR1 CBF1-INTERACTING COREPRESSOR; CIR Percent 605229 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14 Asterisk 605230 TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1 53BP1 Number Sign 605231 BARDET-BIEDL SYNDROME 6; BBS6 Asterisk 605232 PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1 PROSTATE-DERIVED STERILE 20-LIKE KINASE; PSK;; PRKWNK1;; KDP;; KIAA0344 WNK1/HSN2 ISOFORM, INCLUDED Percent 605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE DALD Asterisk 605234 VOMERONASAL 1 RECEPTOR 1; VN1R1 V1R-LIKE 1; V1RL1;; VOMERONASAL RECEPTOR 1;; V3R-RELATED GENE;; VNR19I1;; ZVNH1;; ZVNR1 Asterisk 605235 NUCLEOLAR PROTEIN 3; NOL3 NOP APOPTOSIS REPRESSOR WITH CARD DOMAIN, INCLUDED; ARC, INCLUDED;; NUCLEOLAR PROTEIN, 30-KD, INCLUDED; NOP30, INCLUDED;; MUSCLE-ENRICHED CYTOSOLIC PROTEIN, INCLUDED; MYP, INCLUDED Asterisk 605236 CORIN, SERINE PEPTIDASE; CORIN CRN;; TRANSMEMBRANE PROTEASE, SERINE 10; TMPRSS10;; ATC2;; PRO-ANP-CONVERTING ENZYME Asterisk 605237 XENOTROPIC AND POLYTROPIC RETROVIRUS RECEPTOR; XPR1 X RECEPTOR;; SYG1, YEAST, HOMOLOG OF; SYG1 Asterisk 605238 HISTAMINE N-METHYLTRANSFERASE; HNMT Asterisk 605239 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4 ATPase, H+ TRANSPORTING, LYSOSOMAL, NONCATALYTIC ACCESSORY PROTEIN 1B; ATP6N1B;; ATP6N2;; VACUOLAR PROTEIN PUMP, SUBUNIT 2; VPP2 Asterisk 605240 CHEMOKINE, CC MOTIF, LIGAND 28; CCL28 Asterisk 605241 LYMPHOCYTE ANTIGEN 86; LY86 MD1 PROTEIN; MD1 Asterisk 605242 USH1C GENE; USH1C HARMONIN;; PDZ DOMAIN-CONTAINING PROTEIN, 73-KD; PDZ73 Asterisk 605243 LYMPHOCYTE ANTIGEN 96; LY96 MD2 PROTEIN; MD2 Percent 605244 CARNEY COMPLEX, TYPE 2; CNC2 CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2 Asterisk 605245 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 8; SLC2A8 GLUCOSE TRANSPORTER 8; GLUT8;; GLUCOSE TRANSPORTER X1 Asterisk 605246 COMPLEMENT COMPONENT 3a RECEPTOR 1; C3AR1 C3AR Asterisk 605247 LEUCINE-RICH REPEATS- AND DEATH DOMAIN-CONTAINING PROTEIN; LRDD p53-INDUCED PROTEIN WITH DEATH DOMAIN; PIDD Asterisk 605248 MUCOLIPIN 1; MCOLN1 ML4 GENE;; MUCOLIPIDIN;; TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 1; TRPML1 Caret 605249 MOVED TO 155100 Asterisk 605250 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 4; ABCC4 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 4; MRP4;; MULTISPECIFIC ORGANIC ANION TRANSPORTER B; MOATB Asterisk 605251 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 5; ABCC5 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 5; MRP5;; MOATC Asterisk 605252 POLYMERASE, DNA, IOTA; POLI RAD30, S. CEREVISIAE, HOMOLOG OF, B; RAD30B Number Sign 605253 NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1 NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE;; HYPOMYELINATION, SEVERE CONGENITAL;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4E; CMT4E;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4E NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT, INCLUDED Asterisk 605254 NICASTRIN; NCSTN ANTERIOR PHARYNX DEFECTIVE 2, C. ELEGANS, HOMOLOG OF; APH2 Asterisk 605255 ETS VARIANT GENE 7; ETV7 ETS TRANSCRIPTION FACTOR TEL2; TEL2;; TELB Asterisk 605256 RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18 Asterisk 605257 ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA AID Number Sign 605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2; HIGM2 HYPER-IgM SYNDROME 2 Number Sign 605259 SPINOCEREBELLAR ATAXIA 13; SCA13 Caret 605260 MOVED TO 145900 Asterisk 605261 NADPH OXIDASE 4; NOX4 RENAL NADPH OXIDASE; RENOX Asterisk 605262 NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1 PROTEIN REGULATED BY OXYGEN 1; PROXY1 Asterisk 605263 SHC TRANSFORMING PROTEIN 3; SHC3 SHC-LIKE PROTEIN, NEURONAL; NSHC;; SHC PROTEIN C; SHCC;; RAI Asterisk 605264 SORBIN AND SH3-DOMAINS CONTAINING PROTEIN 1; SORBS1 SH3 DOMAIN PROTEIN 5; SH3D5;; CBL-ASSOCIATED PROTEIN; CAP;; SH3 DOMAIN-CONTAINING PROTEIN 12; SH3P12;; PONSIN;; SORB1 Asterisk 605265 APOPTOSIS AND CASPASE ACTIVATION INHIBITOR; AVEN CELL DEATH REGULATOR AVEN Asterisk 605266 JUNCTOPHILIN 1; JPH1 JP1 Asterisk 605267 JUNCTOPHILIN 2; JPH2 JP2 Asterisk 605268 JUNCTOPHILIN 3; JPH3 JP3 Asterisk 605269 CORONIN 1C; CORO1C CORONIN 3, MOUSE, HOMOLOG OF Asterisk 605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH HEPARAN SULFATE SULFATASE; HSS;; SULFAMIDASE Asterisk 605271 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 10; SERPINA10 REGENERATION-ASSOCIATED SERPIN 1; RASP1;; PROTEIN Z-DEPENDENT PROTEASE INHIBITOR PRECURSOR; ZPI Asterisk 605272 NMYC DOWNSTREAM-REGULATED GENE 2; NDRG2 KIAA1248 Asterisk 605273 NMYC DOWNSTREAM-REGULATED GENE 3; NDRG3 NULL 605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE MESOMELIC DYSPLASIA WITH ABSENT FIBULAS AND TRIANGULAR TIBIAS Number Sign 605275 NOONAN SYNDROME 2; NS2 NOONAN SYNDROME, AUTOSOMAL RECESSIVE Asterisk 605276 APOPTOSIS-ASSOCIATED TYROSINE KINASE; AATK AATYK Asterisk 605277 GLUCOCORTICOID RECEPTOR DNA-BINDING FACTOR 1; GRLF1 p190A, RAT, HOMOLOG OF; p190A;; p190RHOGAP Asterisk 605278 CARBOXYLESTERASE 2; CES2 Asterisk 605279 CARBOXYLESTERASE 3; CES3 ES31, MOUSE, HOMOLOG OF;; CES1D, MOUSE, HOMOLOG OF Number Sign 605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 Asterisk 605281 DEAD/H BOX 4; DDX4 VASA, DROSOPHILA, HOMOLOG OF; VASA Number Sign 605282 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE Asterisk 605283 MAGE-LIKE 2; MAGEL2 NECDIN-LIKE 1; NDNL1 Asterisk 605284 TSC1 GENE; TSC1 HAMARTIN Number Sign 605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G; CMT4G;; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4G;; HEREDITARY MOTOR AND SENSORY NEUROPATHY, RUSSE TYPE;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G Asterisk 605286 CALPAIN 10; CAPN10 Asterisk 605287 ARGINYL AMINOPEPTIDASE-LIKE 1; RNPEPL1 AMINOPEPTIDASE B-LIKE Caret 605288 MOVED TO 273300 Number Sign 605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 Asterisk 605290 OPA1 GENE; OPA1 KIAA0567;; DYNAMIN-LIKE 120-KD PROTEIN, MITOCHONDRIAL Caret 605291 MOVED TO 191720 Asterisk 605292 5-PRIME-NUCLEOTIDASE, MITOCHONDRIAL; NT5M DEOXYRIBONUCLEOTIDASE, MITOCHONDRIAL; DNT2 Percent 605293 OPTIC ATROPHY 4; OPA4 Asterisk 605294 CARBOHYDRATE SULFOTRANSFERASE 6; CHST6 CORNEAL N-ACETYLGLUCOSAMINE-6-SULFOTRANSFERASE;; CORNEAL GlcNAc-6-SULFOTRANSFERASE Asterisk 605295 FIDGETIN; FIGN Asterisk 605296 PROTEASOME ASSEMBLY CHAPERONE 1; PSMG1 PAC1;; DOWN SYNDROME CRITICAL REGION GENE 2; DSCR2;; CHROMOSOME 21 LEUCINE-RICH PROTEIN; C21LRP Asterisk 605297 TH1-LIKE; TH1L TH1, DROSOPHILA, HOMOLOG OF; TH1 NEGATIVE ELONGATION FACTOR POLYPEPTIDE C, INCLUDED; NELFC, INCLUDED;; NEGATIVE ELONGATION FACTOR POLYPEPTIDE D, INCLUDED; NELFD, INCLUDED Asterisk 605298 DOWN SYNDROME CRITICAL REGION GENE 3; DSCR3 DOWN SYNDROME CRITICAL REGION GENE A; DSCRA Asterisk 605299 NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6 THYROID HORMONE RECEPTOR-BINDING PROTEIN; TRBP;; NUCLEAR RECEPTOR-ACTIVATING PROTEIN, 250-KB; RAP250;; NUCLEAR RECEPTOR COACTIVATOR RAP250; NRC;; PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-INTERACTING PROTEIN; PRIP;; ACTIVATING SIGNAL COINTEGRATOR 2; ASC2;; AMPLIFIED IN BREAST CANCER 3; AIB3;; KIAA0181 Asterisk 605300 SH2B ADAPTOR PROTEIN 2; SH2B2 ADAPTOR PROTEIN CONTAINING PH AND SH2 DOMAINS; APS Asterisk 605301 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 1; TACC1 TACC1/FGFR1 FUSION GENE, INCLUDED Asterisk 605302 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 2; TACC2 Asterisk 605303 TRANSFORMING, ACIDIC, COILED-COIL-CONTAINING PROTEIN 3; TACC3 TACC3/FGFR3 FUSION GENE, INCLUDED Asterisk 605304 NEUROGLOBIN; NGB Asterisk 605305 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 5A; KIR2DL5A CD158F;; KIR2DL5 Asterisk 605306 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER A; CLEC4A LECTIN, C-TYPE, SUPERFAMILY MEMBER 6; CLECSF6;; DENDRITIC CELL IMMUNORECEPTOR; DCIR;; LECTIN-LIKE IMMUNORECEPTOR; LLIR Asterisk 605307 ADRENOMEDULLIN RECEPTOR; ADMR AMR Asterisk 605308 ZINC FINGER PROTEIN 346; ZNF346 DOUBLE-STRANDED RNA-BINDING ZINC FINGER PROTEIN;; JUST ANOTHER ZINC FINGER PROTEIN; JAZ Number Sign 605309 MACROCEPHALY/AUTISM SYNDROME Asterisk 605310 COILED-COIL ALPHA-HELICAL ROD PROTEIN 1; CCHCR1 ALPHA-HELIX COILED-COIL ROD HOMOLOG; HCR;; C6ORF18 Caret 605311 MOVED TO 601776 Asterisk 605312 GROWTH/DIFFERENTIATION FACTOR 15; GDF15 BONE MORPHOGENETIC PROTEIN, PLACENTA; PLAB;; PROSTATE-DERIVED FACTOR; PDF;; MACROPHAGE-INHIBITING CYTOKINE 1; MIC1 Asterisk 605313 RNA-BINDING MOTIF PROTEIN 8A; RBM8A RNA-BINDING MOTIF PROTEIN 8; RBM8;; Y14 Asterisk 605314 HISTONE DEACETYLASE 4; HDAC4 HDACA Asterisk 605315 HISTONE DEACETYLASE 5; HDAC5 Caret 605316 MOVED TO 601072 Asterisk 605317 FORKHEAD BOX P2; FOXP2 TRINUCLEOTIDE REPEAT-CONTAINING GENE 10; TNRC10;; CAGH44 Caret 605318 MOVED TO 600833 Asterisk 605319 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 3; PFKFB3 PFKFB, PLACENTAL;; PFK2, INDUCIBLE; IPFK2 Asterisk 605320 6-PHOSPHOFRUCTO-2-KINASE/FRUCTOSE-2,6-BISPHOSPHATASE 4; PFKFB4 PFKFB, TESTIS NULL 605321 FRONTOOCULAR SYNDROME Asterisk 605322 WAP 4-DISULFIDE CORE DOMAIN 1; WFDC1 PROSTATE STROMAL PROTEIN, 20-KD, RAT, HOMOLOG OF; PS20 Asterisk 605323 C-TERMINAL DOMAIN OF RNA POLYMERASE II POLYPEPTIDE A, SMALL PHOSPHATASE OF, 1; CTDSP1 CTD SMALL PHOSPHATASE 1;; SMALL CTD PHOSPHATASE 1; SCP1;; NUCLEAR LIM INTERACTOR-INTERACTING FACTOR; NLIIF Asterisk 605324 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 2; APPBP2 PROTEIN INTERACTING WITH APP TAIL 1; PAT1 Asterisk 605325 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 5; CYP3A5 P450PCN3 Asterisk 605326 TAX1-BINDING PROTEIN 1; TAX1BP1 HUMAN T-CELL LEUKEMIA VIRUS TYPE 1-BINDING PROTEIN;; TXBP151;; TRAF6-INTERACTING PROTEIN; T6BP Asterisk 605327 NUCLEAR FACTOR, INTERLEUKIN 3-REGULATED; NFIL3 NFIL3A;; E4BP4 Asterisk 605328 KRUPPEL-LIKE FACTOR 13; KLF13 RANTES FACTOR OF LATE-ACTIVATED T LYMPHOCYTES 1; RFLAT1;; FKLF2 Caret 605329 MOVED TO 605205 Asterisk 605330 INTERLEUKIN 22; IL22 INTERLEUKIN 10-RELATED T CELL-DERIVED INDUCIBLE FACTOR; ILTIF Asterisk 605331 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 3; EPB41L3 DIFFERENTIALLY EXPRESSED IN ADENOCARCINOMA OF THE LUNG; DAL1;; NONERYTHROID PROTEIN 4.1, BRAIN TYPE; 4.1B Asterisk 605332 KELCH-LIKE 1; KLHL1 Asterisk 605333 PDS5, REGULATOR OF COHESION MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, B; PDS5B ANDROGEN-INDUCED PROSTATE PROLIFERATIVE SHUTOFF-ASSOCIATED PROTEIN;; APRIN;; AS3 Caret 605334 MOVED TO 300290 Asterisk 605335 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 1; PHLDA1 T CELL DEATH-ASSOCIATED GENE 51; TDAG51 Asterisk 605336 COMPLEMENT FACTOR H-RELATED 3; CFHR3 FACTOR H-RELATED GENE 3; FHR3;; H FACTOR-LIKE 4; HLF4;; CFHL3 Asterisk 605337 COMPLEMENT FACTOR H-RELATED 4; CFHR4 FACTOR H-RELATED GENE 4; FHR4;; CFHL4 FHR-4A, INCLUDED;; FHR-4B, INCLUDED Asterisk 605338 INTERNEXIN, ALPHA; INA NEUROFILAMENT, 66-KD; NF66;; NEUROFILAMENT PROTEIN 5; NEF5 Asterisk 605339 FMR1 AUTOSOMAL HOMOLOG 2; FXR2 FRAGILE X-RELATED PROTEIN 2; FXR2P;; FRAGILE X MENTAL RETARDATION, AUTOSOMAL HOMOLOG 2 Asterisk 605340 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 7; CYP3A7 Asterisk 605341 PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, ALPHA; PILRA Asterisk 605342 PAIRED IMMUNOGLOBULIN-LIKE TYPE 2 RECEPTOR, BETA; PILRB Asterisk 605343 FOLLISTATIN-LIKE 3; FSTL3 FOLLISTATIN-RELATED GENE; FLRG Asterisk 605344 NUCLEAR TRANSCRIPTION FACTOR Y, GAMMA; NFYC TRANSCRIPTION FACTOR NF-Y, C SUBUNIT;; CCAAT-BINDING FACTOR, C SUBUNIT; CBFC Asterisk 605345 AlkB, E. COLI, HOMOLOG OF, 1; ALKBH1 ABH1;; ABH Caret 605346 MOVED TO 176730 Asterisk 605347 PEPTIDYLARGININE DEIMINASE, TYPE IV; PADI4 PAD4;; PEPTIDYLARGININE DEIMINASE V; PADI5;; PROTEIN-ARGININE DEIMINASE; PAD Asterisk 605348 TRANSMEMBRANE PROTEIN 50A; TMEM50A SMALL MEMBRANE PROTEIN 1; SMP1 Asterisk 605349 NUCLEAR PRELAMIN A RECOGNITION FACTOR; NARF IOP2 Asterisk 605350 INTERLEUKIN 27 RECEPTOR, ALPHA; IL27RA INTERLEUKIN 27 RECEPTOR; IL27R;; T-CELL CYTOKINE RECEPTOR; TCCR;; WSX1 Asterisk 605351 FIBRINOGEN-LIKE 2; FGL2 FIBROLEUKIN Asterisk 605352 MALIGNANT FIBROUS HISTIOCYTOMA-AMPLIFIED SEQUENCE 1; MFHAS1 MALIGNANT FIBROUS HISTIOCYTOMA-AMPLIFIED SEQUENCES WITH LEUCINE-RICH TANDEM REPEATS 1; MASL1 Asterisk 605353 GHRELIN; GHRL GROWTH HORMONE SECRETAGOGUE RECEPTOR LIGAND;; MOTILIN-RELATED PEPTIDE OBESTATIN, INCLUDED Asterisk 605354 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 18; CARD18 CASPASE 1 INHIBITOR;; ICEBERG Number Sign 605355 NEMALINE MYOPATHY 5; NEM5 NEMALINE MYOPATHY, AMISH TYPE; ANM;; AMISH NEMALINE MYOPATHY Asterisk 605356 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, GAMMA ISOFORM; YWHAG 14-3-3-GAMMA Asterisk 605357 STONIN 1; STON1 STN1;; STONED B-LIKE FACTOR; SBLF STONED B/TFIIA-ALPHA/BETA-LIKE FACTOR, INCLUDED; SALF, INCLUDED;; STON1/ALF SPLICED READ-THROUGH TRANSCRIPT, INCLUDED Asterisk 605358 GENERAL TRANSCRIPTION FACTOR IIA, 1-LIKE; GTF2A1L TFIIA-ALPHA/BETA-LIKE FACTOR; ALF Asterisk 605359 PROLINE-RICH 4; PROL4 LACRIMAL PROLINE-RICH PROTEIN; LPRP Asterisk 605360 COILED-COIL DOMAIN-CONTAINING PROTEIN 85B; CCDC85B DELTA ANTIGEN-INTERACTING PROTEIN A; DIPA;; HEPATITIS DELTA ANTIGEN-INTERACTING PROTEIN A Number Sign 605361 SPINOCEREBELLAR ATAXIA 14; SCA14 Number Sign 605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT Asterisk 605363 GLUTAMATE DECARBOXYLASE 1; GAD1 GAD;; GLUTAMATE DECARBOXYLASE, BRAIN, 67-KD; GAD67 Percent 605364 PSORIASIS 6, SUSCEPTIBILITY TO; PSORS6 Caret 605365 MOVED TO 114480 Asterisk 605366 OLFACTOMEDIN 1; OLFM1 NOELIN 1;; NEUROBLASTOMA PROTEIN;; AMY Asterisk 605367 ELAC, E. COLI, HOMOLOG OF, 2; ELAC2 HPC2;; RIBONUCLEASE Z, LONG FORM;; RNase ZL Asterisk 605368 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 3-LIKE; BNIP3L NIX Asterisk 605369 TRANSMEMBRANE PROTEASE, SERINE 11D; TMPRSS11D AIRWAY TRYPSIN-LIKE PROTEASE;; HAT Asterisk 605370 RHO GTPase-ACTIVATING PROTEIN 26; ARHGAP26 GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE; GRAF;; KIAA0621 GRAF/MLL FUSION GENE, INCLUDED Asterisk 605371 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARFGEF2 BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 2; BIG2 Asterisk 605372 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A3; HNRNPA3 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN-LIKE;; HNRPA3;; FBRNP;; D10S102 Number Sign 605373 PARAGANGLIOMAS 3; PGL3 GLOMUS TUMORS, FAMILIAL, 3 Asterisk 605374 MYCN, OPPOSITE STRAND; MYCNOS DNA-BINDING TRANSCRIPTIONAL ACTIVATOR NCYM; NYCM Number Sign 605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3 Number Sign 605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2 HTX Asterisk 605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK DM KINASE; DMK;; DM PROTEIN KINASE;; MYOTONIN-PROTEIN KINASE Asterisk 605378 AAAS GENE; AAAS ALADIN;; ADRACALIN Asterisk 605379 GIGAXONIN; GAN GAN1 Asterisk 605380 FIBROBLAST GROWTH FACTOR 23; FGF23 Asterisk 605381 RHESUS BLOOD GROUP, C GLYCOPROTEIN; RHCG RHESUS BLOOD GROUP-ASSOCIATED KIDNEY HOMOLOG;; RH-RELATED GLYCOPROTEIN RhGK; RHGK Caret 605382 MOVED TO 167320 Asterisk 605383 INTERLEUKIN 21 RECEPTOR; IL21R IL21R/BCL6 FUSION GENE, INCLUDED Asterisk 605384 INTERLEUKIN 21; IL21 Asterisk 605385 PRENYL PROTEIN PROTEASE RCE1; RCE1 Asterisk 605386 MICRO RNA LET7A1; MIRLET7A1 MIRNLET7A1;; LET7, C. ELEGANS, HOMOLOG OF, A1;; miRNA LET7A1;; LET7A1;; LET7A1, SMALL TEMPORAL RNA;; LET7A1, stRNA Number Sign 605387 CATARACT 31, MULTIPLE TYPES; CTRCT31 CATARACT, POSTERIOR POLAR, 3; CTPP3; CPP3 Percent 605388 CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE ACP;; ATAXIC CEREBRAL PALSY Number Sign 605389 HYPOTRICHOSIS 1; HYPT1 HYPOTRICHOSIS SIMPLEX, GENERALIZED, HEREDITARY; HHS;; HTS Asterisk 605390 LEUPAXIN; LPXN Asterisk 605391 MULTIPLE INOSITOL POLYPHOSPHATE PHOSPHATASE 1; MINPP1 MIPP, RAT, HOMOLOG OF;; HIPER1, CHICKEN, HOMOLOG OF Asterisk 605392 FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER; FGFR1OP FGFR1 ONCOGENE PARTNER; FOP FOP/FGFR1 FUSION GENE, INCLUDED Asterisk 605393 LYSINE-SPECIFIC DEMETHYLASE 5B; KDM5B JUMONJI, AT-RICH INTERACTIVE DOMAIN 1B; JARID1B;; PUTATIVE DNA/CHROMATIN-BINDING MOTIF 1;; PUT1;; PLU1;; RETINOBLASTOMA-BINDING PROTEIN 2, HOMOLOG 1A; RBBP2H1A Asterisk 605394 BTB AND CNC HOMOLOGY 2; BACH2 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR 2 Asterisk 605395 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 1; TMED1 TRANSMEMBRANE EMP24 TRANSPORT DOMAIN-CONTAINING PROTEIN 1;; INTERLEUKIN 1 RECEPTOR-LIKE 1 LIGAND; IL1RL1LG;; IL1RL1-BINDING PROTEIN Caret 605396 MOVED TO 604686 Asterisk 605397 CD226 ANTIGEN; CD226 DNAX ACCESSORY MOLECULE 1; DNAM1 Asterisk 605398 CHEMOKINE, CXC MOTIF, LIGAND 16; CXCL16 SRPSOX Asterisk 605399 NIDOGEN 2; NID2 OSTEONIDOGEN NULL 605400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS AND MENTAL RETARDATION Asterisk 605401 IQ MOTIF-CONTAINING GTPase-ACTIVATING PROTEIN 2; IQGAP2 Asterisk 605402 CD274 MOLECULE; CD274 PROGRAMMED CELL DEATH 1 LIGAND 1; PDCD1LG1;; PDCD1 LIGAND 1; PDCD1L1;; PROGRAMMED DEATH LIGAND 1; PDL1;; B7 HOMOLOG 1; B7H1 Asterisk 605403 TOLL-LIKE RECEPTOR 6; TLR6 Asterisk 605404 BCL2-RELATED OVARIAN KILLER; BOK BCL2-LIKE 9; BCL2L9 Asterisk 605405 USP6 N-TERMINAL-LIKE; USP6NL RELATED TO THE N TERMINUS OF TRE; RNTRE Asterisk 605406 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 10; TMED10 TRANSMEMBRANE EMP24 TRANSPORT DOMAIN-CONTAINING PROTEIN 10;; TRANSMEMBRANE TRAFFICKING PROTEIN, 21-KD; TMP21 Number Sign 605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE PARKINSONISM, INFANTILE, AUTOSOMAL RECESSIVE;; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL RECESSIVE;; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL RECESSIVE;; TYROSINE HYDROXYLASE DEFICIENCY Caret 605408 MOVED TO 159900 Asterisk 605409 TRANSCRIPTION ELONGATION REGULATOR 1; TCERG1 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2S; TAF2S;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 150-KD;; TRANSCRIPTION FACTOR CA150; CA150 Asterisk 605410 POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 2; KCND2 Kv4.2;; KIAA1044 Asterisk 605411 POTASSIUM VOLTAGE-GATED CHANNEL, SHAL-RELATED SUBFAMILY, MEMBER 3; KCND3 Kv4.3;; KCND3S KCND3L, INCLUDED Asterisk 605412 RAB-LIKE 2A; RABL2A Asterisk 605413 RAB-LIKE 2B; RABL2B Asterisk 605414 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 7; ABCA7 ABCX;; SJOGREN SYNDROME ANTIGEN SS-N Asterisk 605415 DICKKOPF, XENOPUS, HOMOLOG OF, 2; DKK2 Asterisk 605416 DICKKOPF, XENOPUS, HOMOLOG OF, 3; DKK3 REGULATED IN GLIOMA; RIG Asterisk 605417 DICKKOPF, XENOPUS, HOMOLOG OF, 4; DKK4 Asterisk 605418 DICKKOPF-LIKE 1; DKKL1 SOGGY 1; SGY1;; SGY Percent 605419 SCHIZOPHRENIA 10; SCZD10 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED;; CATATONIA, PERIODIC Asterisk 605420 ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF; ALX4 Asterisk 605421 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 9; ADAMTS9 Asterisk 605422 ZINC FINGER PROTEIN 350; ZNF350 ZINC FINGER AND BRCA1-INTERACTING PROTEIN WITH A KRAB DOMAIN 1; ZBRK1 Asterisk 605423 DESERT HEDGEHOG; DHH Asterisk 605424 MASTERMIND-LIKE 1; MAML1 MASTERMIND, DROSOPHILA, HOMOLOG OF, 1; MAM1 Asterisk 605425 GAP JUNCTION PROTEIN, BETA-4; GJB4 CONNEXIN 30.3; CX30.3 Asterisk 605426 TUMOR PROTEIN p53-REGULATED APOPTOSIS-INDUCING PROTEIN 1; TP53AIP1 p53-REGULATED APOPTOSIS-INDUCING PROTEIN 1; P53AIP1 Asterisk 605427 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4 VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; VROAC;; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; OTRPC4;; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12; TRP12;; TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 12 Number Sign 605428 DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26 Number Sign 605429 DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF; DFNB26M DFNB26, MODIFIER OF;; DFNB26, SUPPRESSOR OF;; DEAFNESS, NONSYNDROMIC, MODIFIER OF, 1; DFNM1 Asterisk 605430 SPERM-ASSOCIATED ANTIGEN 9; SPAG9 SUNDAY DRIVER, DROSOPHILA, HOMOLOG OF, 1; SYD1;; PROTEIN HIGHLY EXPRESSED IN TESTIS; PHET;; KIAA0516 Asterisk 605431 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 3; MAPK8IP3 SUNDAY DRIVER, DROSOPHILA, HOMOLOG OF, 2; SYD2;; JNK/STRESS-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; JSAP1;; JNK-INTERACTING PROTEIN 3; JIP3 Number Sign 605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1; RUSAT1 RUSAT;; THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS; CTRUS Asterisk 605433 KINESIN FAMILY MEMBER 13A; KIF13A Asterisk 605434 CLASPIN, XENOPUS, HOMOLOG OF; CLSPN Asterisk 605435 PROTEIN KINASE D1; PRKD1 PROTEIN KINASE C, MU; PRKCM;; PKC-MU;; PROTEIN KINASE D; PKD Asterisk 605436 SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1 PRADER-WILLI CRITICAL REGION GENE 1; PWCR1;; RNA, HBII-85 SMALL NUCLEOLAR snoRNA, HBII-85 Asterisk 605437 PROTEIN KINASE C, ETA; PRKCH PKCL; PRKCL Asterisk 605438 DISCS LARGE-ASSOCIATED PROTEIN 2; DLGAP2 DAP2;; SAP90/PSD95-ASSOCIATED PROTEIN 2; SAPAP2 Asterisk 605439 ETS HOMOLOGOUS FACTOR; EHF EPITHELIUM-SPECIFIC ETS FACTOR 3; ESE3 Asterisk 605440 UBIQUILIN 4; UBQLN4 ATAXIN-1 UBIQUITIN-LIKE INTERACTING PROTEIN; A1U;; CHROMOSOME 1 OPEN READING FRAME 6; C1ORF6;; CONNEXIN 43-INTERACTING PROTEIN, 75-KD; CIP75 Asterisk 605441 ADIPOCYTE-, C1q-, AND COLLAGEN DOMAIN-CONTAINING; ADIPOQ ADIPOSE MOST ABUNDANT GENE TRANSCRIPT 1; APM1;; GELATIN-BINDING PROTEIN, 28-KD; GBP28;; ADIPONECTIN; ADPN;; ACRP30;; ADIPOCYTE-SPECIFIC SECRETORY PROTEIN;; ACDC Asterisk 605442 WT1-ASSOCIATED PROTEIN; WTAP KIAA0105 Asterisk 605443 PROSTATE-SPECIFIC GENE PCGEM1; PCGEM1 Asterisk 605444 RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, LIKE 2; RBMXL2 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN G-T;; HNRNPGT;; HNRPGT Asterisk 605445 DISCS LARGE-ASSOCIATED PROTEIN 1; DLGAP1 DAP1;; GUANYLATE KINASE-ASSOCIATED PROTEIN; GKAP;; SAP90/PSD95-ASSOCIATED PROTEIN 1; SAPAP1 DISCS LARGE-ASSOCIATED PROTEIN 1, ALPHA ISOFORM, INCLUDED; DLGAP1A, INCLUDED; DAP1A, INCLUDED;; DISCS LARGE-ASSOCIATED PROTEIN 1, BETA ISOFORM, INCLUDED; DLGAP1B, INCLUDED; DAP1B, INCLUDED Asterisk 605446 RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN; RPGRIP1 RPGR-INTERACTING PROTEIN Asterisk 605447 CHROMOSOME 6 OPEN READING FRAME 48; C6ORF48 G8 PROTEIN; G8 Asterisk 605448 RUN DOMAIN-CONTAINING PROTEIN 3A; RUNDC3A RAP2-INTERACTING PROTEIN 8; RPIP8 Asterisk 605449 GLUTATHIONE S-TRANSFERASE, ALPHA-3; GSTA3 GLUTATHIONE S-TRANSFERASE A3 Asterisk 605450 GLUTATHIONE S-TRANSFERASE, ALPHA-4; GSTA4 GLUTATHIONE S-TRANSFERASE A4 Asterisk 605451 p21 PROTEIN-ACTIVATED KINASE 4; PAK4 p21 CDC42/RAC1-ACTIVATED KINASE 4;; KIAA1142 Asterisk 605452 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 6; ABCB6 MITOCHONDRIAL ABC PROTEIN 3; MTABC3 Asterisk 605453 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 9; ABCB9 Asterisk 605454 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 10; ABCB10 MITOCHONDRIAL ABC PROTEIN 2; MABC2; MTABC2 Asterisk 605455 RAS-ASSOCIATED PROTEIN RAB26; RAB26 Asterisk 605456 BET1 GOLGI VESICULAR MEMBRANE-TRAFFICKING PROTEIN; BET1 BET1, S. CEREVISIAE, HOMOLOG OF;; GOLGI VESICULAR MEMBRANE-TRAFFICKING PROTEIN p18 Asterisk 605457 INTERLEUKIN 22 RECEPTOR, ALPHA-1; IL22RA1 IL22R1 Asterisk 605458 INTERLEUKIN 17 RECEPTOR B; IL17RB INTERLEUKIN 17B RECEPTOR; IL17BR;; INTERLEUKIN 17 RECEPTOR HOMOLOG 1; IL17RH1 Asterisk 605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5 STEROLIN 1 Asterisk 605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8 STEROLIN 2 Asterisk 605461 INTERLEUKIN 17 RECEPTOR A; IL17RA IL17R Percent 605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1 BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED;; BASAL CELL CARCINOMA, MULTIPLE, INCLUDED NULL 605463 RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT Asterisk 605464 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 8; ABCB8 MITOCHONDRIAL ATP-BINDING CASSETTE 1; MABC1 Asterisk 605465 ZINC FINGER PROTEIN 277; ZNF277 Asterisk 605466 SIGNAL REGULATORY PROTEIN, GAMMA; SIRPG SIRP-GAMMA;; SIGNAL REGULATORY PROTEIN, BETA-2; SIRPB2 Asterisk 605467 ZINC FINGER PROTEIN 274; ZNF274 ZINC FINGER PROTEIN 274, ISOFORM A, INCLUDED; ZNF274A, INCLUDED;; ZINC FINGER PROTEIN 274, ISOFORM B, INCLUDED; ZNF274B, INCLUDED Asterisk 605468 CDC42 EFFECTOR PROTEIN 4; CDC42EP4 CEP4;; BINDER OF RHO GTPases 4; BORG4 Asterisk 605469 LYSINE-SPECIFIC DEMETHYLASE 4C; KDM4C JUMONJI DOMAIN-CONTAINING PROTEIN 2C; JMJD2C;; GENE AMPLIFIED IN SQUAMOUS CELL CARCINOMA 1; GASC1;; KIAA0780 Asterisk 605470 MATRIX METALLOPROTEINASE 26; MMP26 MATRILYSIN 2 Asterisk 605471 ZINC FINGER FYVE TYPE-CONTAINING PROTEIN 1; ZFYVE1 ZINC FINGER PROTEIN, SUBFAMILY 2A, MEMBER 1; ZNFN2A1;; DOUBLE FYVE-CONTAINING PROTEIN 1; DFCP1;; TANDEM FYVE FINGERS 1; TAFF1 Number Sign 605472 USHER SYNDROME, TYPE IIC; USH2C USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC, INCLUDED;; USHER SYNDROME, TYPE IIB, FORMERLY, INCLUDED; USH2B, FORMERLY, INCLUDED Asterisk 605473 UBIQUILIN 3; UBQLN3 Asterisk 605474 TOLL-LIKE RECEPTOR 9; TLR9 Asterisk 605475 BAI1-ASSOCIATED PROTEIN 2; BAIAP2 INSULIN RECEPTOR SUBSTRATE p53; IRSP53 Asterisk 605476 ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 2; AGAP2 CENTAURIN, GAMMA-1; CENTG1;; PHOSPHOINOSITIDE 3-KINASE ENHANCER;; PI3K ENHANCER; PIKE;; KIAA0167 Asterisk 605477 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 7; ARHGEF7 PAK-INTERACTING EXCHANGE FACTOR, BETA; PIXB;; BETA-PIX;; COOL1;; KIAA0142 Asterisk 605478 SINGLE IMMUNOGLOBULIN DOMAIN-CONTAINING IL1R-RELATED PROTEIN; SIGIRR TOLL/IL1R 8; TIR8 Number Sign 605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2 Percent 605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3 Asterisk 605481 ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; ASPM ASP, DROSOPHILA, HOMOLOG OF;; MCPH5 GENE Asterisk 605482 GLUTATHIONE S-TRANSFERASE, OMEGA-1; GSTO1 Asterisk 605483 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 2; DNAI2 Asterisk 605484 Fc FRAGMENT OF IgA AND IgM, RECEPTOR FOR; FCAMR Asterisk 605485 VACUOLAR PROTEIN SORTING 41, YEAST, HOMOLOG OF; VPS41 Caret 605486 MOVED TO 605313 Asterisk 605487 CYCLIC AMP-REGULATED PHOSPHOPROTEIN, 19-KD; ARPP19 cAMP-REGULATED PHOSPHOPROTEIN, 19-KD cAMP-REGULATED PHOSPHOPROTEIN, 16-KD, INCLUDED; ARPP16, INCLUDED Asterisk 605488 CYCLIC AMP-REGULATED PHOSPHOPROTEIN, 21-KD; ARPP21 cAMP-REGULATED PHOSPHOPROTEIN, 21-KD;; REGULATOR OF CALMODULIN SIGNALING; RCS Asterisk 605489 INTRAFLAGELLAR TRANSPORT 81, CHLAMYDOMONAS, HOMOLOG OF; IFT81 CARNITINE DEFICIENCY-ASSOCIATED GENE EXPRESSED IN VENTRICLE 1; CDV1 CDV1-RELATED, INCLUDED; CDV1R, INCLUDED Asterisk 605490 LON PEPTIDASE 1, MITOCHONDRIAL; LONP1 LON, E. COLI, HOMOLOG OF; LON;; PROTEASE, SERINE, 15; PRSS15 Asterisk 605491 NEBULETTE; NEBL LIM-NEBULETTE, INCLUDED Asterisk 605492 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 2; LRRN2 GLIOMA AMPLIFICATION ON CHROMOSOME 1; GAC1;; LEUCINE-RICH AND ANKYRIN REPEATS 1; LRANK1;; LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 5; LRRN5 Asterisk 605493 TRIPARTITE MOTIF-CONTAINING PROTEIN 3; TRIM3 RING FINGER PROTEIN 22; RNF22;; BRAIN-EXPRESSED RING FINGER; BERP Asterisk 605494 INTEGRIN, BETA-3, BINDING PROTEIN OF; ITGB3BP ENDONEXIN, BETA-3 ENDONEXIN, BETA-3, LONG FORM, INCLUDED;; NUCLEAR RECEPTOR-INTERACTING FACTOR 3, INCLUDED; NRIF3, INCLUDED;; CENTROMERIC PROTEIN R, INCLUDED; CENPR, INCLUDED Asterisk 605495 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3 ORGANIC ANION TRANSPORTER 8; OATP8;; ORGANIC ANION TRANSPORTER 1B3; OATP1B3;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 8, FORMERLY; SLC21A8, FORMERLY Asterisk 605496 CENTROSOMAL PROTEIN 1; CEP1 CEP110;; FAN CEP1/FGFR1 FUSION GENE, INCLUDED Asterisk 605497 CARTILAGE-ASSOCIATED PROTEIN; CRTAP CASP;; LEPRECAN-LIKE 3; LEPREL3 Asterisk 605498 M-PHASE PHOSPHOPROTEIN 1; MPHOSPH1 MPP1;; KINESIN-RELATED MOTOR INTERACTING WITH PIN1; KRMP1 Asterisk 605499 ZW10 INTERACTOR, ANTISENSE; ZWINTAS M-PHASE PHOSPHOPROTEIN 5; MPHOSPH5; MPP5 Asterisk 605500 M-PHASE PHOSPHOPROTEIN 6; MPHOSPH6 MPP6 Asterisk 605501 M-PHASE PHOSPHOPROTEIN 9; MPHOSPH9 MPP9 Asterisk 605502 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 2; DNAJC2 ZUOTIN-RELATED FACTOR 1; ZRF1;; M-PHASE PHOSPHOPROTEIN 11; MPHOSPH11; MPP11 Asterisk 605503 M-PHASE PHOSPHOPROTEIN 10; MPHOSPH10 MPP10 Asterisk 605504 KALLIKREIN-RELATED PEPTIDASE 9; KLK9 KALLIKREIN 9;; KALLIKREIN-LIKE 3; KLKL3 Asterisk 605505 KALLIKREIN-RELATED PEPTIDASE 13; KLK13 KALLIKREIN 13;; KALLIKREIN-LIKE 4; KLKL4 Asterisk 605506 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF, A; VPS26A VPS26;; HB58, MOUSE, HOMOLOG OF Asterisk 605507 INTERLEUKIN 36 RECEPTOR ANTAGONIST; IL36RN INTERLEUKIN 1 FAMILY, MEMBER 5; IL1F5;; INTERLEUKIN 1 RECEPTOR ANTAGONIST HOMOLOG 1; IL1HY1;; FAMILY OF INTERLEUKIN 1-DELTA;; FIL1-DELTA;; IL1RP3 Asterisk 605508 INTERLEUKIN 36, BETA; IL36B INTERLEUKIN 1 FAMILY, MEMBER 8; IL1F8;; FAMILY OF INTERLEUKIN 1-ETA;; FIL1-ETA;; INTERLEUKIN 1 SUPERFAMILY E;; IL1H2 Asterisk 605509 INTERLEUKIN 36, ALPHA; IL36A INTERLEUKIN 1 FAMILY, MEMBER 6; IL1F6;; FAMILY OF INTERLEUKIN 1-EPSILON;; FIL1-EPSILON Asterisk 605510 INTERLEUKIN 37; IL37 INTERLEUKIN 1 FAMILY, MEMBER 7; IL1F7;; FAMILY OF INTERLEUKIN 1-ZETA;; FIL1-ZETA;; IL1H4;; IL1RP1 Asterisk 605511 TRANSMEMBRANE PROTEASE, SERINE 3; TMPRSS3 Asterisk 605512 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4; ELOVL4 Asterisk 605513 MELAN A; MLANA MELANOMA ANTIGEN RECOGNIZED BY T CELLS 1; MART1 Asterisk 605514 PROTOCADHERIN 15; PCDH15 Asterisk 605515 FORKHEAD BOX P1; FOXP1 GLUTAMINE-RICH FACTOR 1; QRF1 Asterisk 605516 CADHERIN 23; CDH23 OTOCADHERIN;; CADHERIN-RELATED FAMILY, MEMBER 23; CDHR23 Asterisk 605517 BETA-1,4-GLUCURONYLTRANSFERASE 1; B4GAT1 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 1;B3GNT1;; i-BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE; iGNT Asterisk 605518 LIPIN 1; LPIN1 KIAA0188;; PHOSPHATIDIC ACID PHOSPHOHYDROLASE 1; PAP1;; PAH1, S. CEREVISIAE, HOMOLOG OF Asterisk 605519 LIPIN 2; LPIN2 Asterisk 605520 LIPIN 3; LPIN3 Asterisk 605521 TATA BOX-BINDING PROTEIN-LIKE PROTEIN 1; TBPL1 TBP-LIKE PROTEIN 1;; TLP;; TBP-RELATED FACTOR 2; TRF2;; TBP-LIKE FACTOR; TLF Asterisk 605522 LIMB REGION 1, MOUSE, HOMOLOG OF; LMBR1 CHROMOSOME 7 OPEN READING FRAME 2; C7ORF2 ZPA REGULATORY SEQUENCE, INCLUDED; ZRS, INCLUDED Asterisk 605523 TRANSDUCER OF ERBB2, 1; TOB1 TOB Caret 605524 MOVED TO 164874 Asterisk 605525 CHROMATIN LICENSING AND DNA REPLICATION FACTOR 1; CDT1 DOUBLE PARKED, DROSOPHILA, HOMOLOG OF; DUP Percent 605526 ALZHEIMER DISEASE 6 AD6;; ALZHEIMER DISEASE 6, LATE-ONSET PLASMA BETA-AMYLOID-42 LEVEL QUANTITATIVE TRAIT LOCUS, INCLUDED Asterisk 605527 METHIONINE ADENOSYLTRANSFERASE II, BETA; MAT2B Asterisk 605528 NEURAMINIDASE 2; NEU2 SIALIDASE 2; SIAL2;; SIALIDASE, CYTOSOLIC Asterisk 605529 UPF2, YEAST, HOMOLOG OF; UPF2 REGULATOR OF NONSENSE TRANSCRIPTS 2; RENT2 Asterisk 605530 UPF3, YEAST, HOMOLOG OF, A; UPF3A REGULATOR OF NONSENSE TRANSCRIPTS 3A; RENT3A;; UPF3 Caret 605531 MOVED TO 300298 Asterisk 605532 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 2; SMURF2 SMAD UBIQUITINATION REGULATORY FACTOR 2 Asterisk 605533 NEUREGULIN 3; NRG3 Asterisk 605534 HIGH MOBILITY GROUP PROTEIN 20A; HMG20A Asterisk 605535 HIGH MOBILITY GROUP PROTEIN 20B; HMG20B BRCA2-ASSOCIATED FACTOR, 35-KD; BRAF35 Asterisk 605536 RAB11 FAMILY-INTERACTING PROTEIN 5; RAB11FIP5 RAB11-INTERACTING PROTEIN; RIP11;; KIAA0857 Asterisk 605537 ACTIVATING TRANSCRIPTION FACTOR 6; ATF6 ACTIVATING TRANSCRIPTION FACTOR 6, ALPHA; ATF6A Asterisk 605538 NEUROTENSIN RECEPTOR 2; NTSR2 Asterisk 605539 KALLIKREIN-RELATED PEPTIDASE 12; KLK12 KALLIKREIN 12;; KALLIKREIN-LIKE 5; KLKL5 Asterisk 605540 TERMINAL NUCLEOTIDYLTRANSFERASE 4B; TENT4B POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 5; PAPD5;; PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 5;; TOPOISOMERASE-RELATED FUNCTION PROTEIN 4-2; TRF4-2;; TUTase 3; TUT3;; GLD4 Asterisk 605541 VAV3 ONCOGENE; VAV3 ONCOGENE VAV3 Asterisk 605542 INTERLEUKIN 36, GAMMA; IL36G INTERLEUKIN 1 FAMILY, MEMBER 9; IL1F9;; INTERLEUKIN 1 HOMOLOG 1; IL1H1;; INTERLEUKIN 1-RELATED PROTEIN 2; IL1RP2 Number Sign 605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY Percent 605544 FIBROMATOSIS, GINGIVAL, 2; GINGF2 GGF2;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 2; HGF2 Asterisk 605545 CD163 ANTIGEN; CD163 HEMOGLOBIN SCAVENGER RECEPTOR Asterisk 605546 GLYCOPROTEIN VI, PLATELET; GP6 PLATELET GLYCOPROTEIN VI;; GP VI Asterisk 605547 FOLLISTATIN-LIKE 1; FSTL1 FOLLISTATIN-RELATED PROTEIN; FRP MICRO RNA 198, INCLUDED; MIR198, INCLUDED;; miRNA198, INCLUDED Asterisk 605548 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 15; ADAM15 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 15; MDC15;; METARGIDIN Percent 605549 CONE-ROD DYSTROPHY 8; CORD8 Asterisk 605550 RAS PROTEIN, DEXAMETHASONE-INDUCED, 1; RASD1 DEXAMETHASONE-INDUCED RAS PROTEIN 1; DEXRAS1 Asterisk 605551 NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN; NOS1AP C-TERMINAL PDZ DOMAIN LIGAND OF NEURONAL NITRIC OXIDE SYNTHASE; CAPON Percent 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME 1; AOMS1 METABOLIC SYNDROME X ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1, INCLUDED;; METABOLIC SYNDROME, PROTECTION AGAINST, INCLUDED Asterisk 605553 POLY(A) POLYMERASE, ALPHA; PAPOLA PAP Asterisk 605554 CD244 ANTIGEN; CD244 NATURAL KILLER CELL RECEPTOR 2B4; 2B4;; NATURAL KILLER CELL ACTIVATION-INDUCING LIGAND; NAIL;; SLAM FAMILY, MEMBER 4; SLAMF4 Asterisk 605555 ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN; AIP HEPATITIS B VIRUS X-ASSOCIATED PROTEIN 2; XAP2;; ARA9 Asterisk 605556 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE TRANSPORTER-LIKE), MEMBER 10; SLC4A10 Asterisk 605557 PR DOMAIN-CONTAINING PROTEIN 16; PRDM16 MDS1/EVI1-LIKE GENE 1; MEL1 Asterisk 605558 FIBROBLAST GROWTH FACTOR 20; FGF20 Asterisk 605559 HOMEOBOX C11; HOXC11 Asterisk 605560 HOMEOBOX C10; HOXC10 Asterisk 605561 PLAKOPHILIN 3; PKP3 Asterisk 605562 SECRETOGLOBIN, FAMILY 2A, MEMBER 2; SCGB2A2 MAMMAGLOBIN 1; MGB1 Asterisk 605563 CALCIUM-BINDING PROTEIN 1; CABP1 CALBRAIN Asterisk 605564 CALCIUM- AND INTEGRIN-BINDING PROTEIN 2; CIB2 DNA-DEPENDENT PROTEIN KINASE-INTERACTING PROTEIN 2;; KINASE-INTERACTING PROTEIN 2; KIP2 Asterisk 605565 RESISTIN; RETN RSTN;; FOUND IN INFLAMMATORY ZONE 3; FIZZ3 Asterisk 605566 RETICULON 4 RECEPTOR; RTN4R NOGO RECEPTOR; NGR Asterisk 605567 SIVA APOPTOSIS-INDUCING FACTOR 1; SIVA1 CD27-BINDING PROTEIN; CD27BP Asterisk 605568 SMAD-SPECIFIC E3 UBIQUITIN PROTEIN LIGASE 1; SMURF1 SMAD UBIQUITINATION REGULATORY FACTOR 1 Asterisk 605569 G PROTEIN-COUPLED RECEPTOR 83; GPR83 GIR, MOUSE, HOMOLOG OF; GIR;; G PROTEIN-COUPLED RECEPTOR 72; GPR72 Asterisk 605570 RAS-ASSOCIATED PROTEIN RAB11A; RAB11A Asterisk 605571 PIWI-LIKE 1; PIWIL1 HIWI;; MIWI, MOUSE, HOMOLOG OF; MIWI Percent 605572 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2 AOMS2 Asterisk 605573 17-BETA HYDROXYSTEROID DEHYDROGENASE III; HSD17B3 17-BETA-HSD III;; ESTRADIOL 17-BETA-DEHYDROGENASE; EDH17B3;; TESTICULAR 17-BETA-HYDROXYSTEROID DEHYDROGENASE III Asterisk 605574 UBIQUITIN-CONJUGATING ENZYME E2C; UBE2C UBIQUITIN-CONJUGATING ENZYME UBCH10; UBCH10 Asterisk 605575 STRUCTURAL MAINTENANCE OF CHROMOSOMES 4; SMC4 CHROMOSOME-ASSOCIATED PROTEIN C; CAPC Asterisk 605576 STRUCTURAL MAINTENANCE OF CHROMOSOMES 2; SMC2 CHROMOSOME-ASSOCIATED PROTEIN E; CAPE Asterisk 605577 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 2; RASGRP2 CALCIUM AND DIACYLGLYCEROL-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR I;; CALDAG-GEFI;; CDC25-LIKE GENE; CDC25L Asterisk 605578 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 2; IFITM2 Asterisk 605579 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 3; IFITM3 Asterisk 605580 INTERLEUKIN 23-ALPHA; IL23A INTERLEUKIN 23, p19 SUBUNIT;; p19;; SGRF Asterisk 605581 BETA-1,3-N-ACETYLGLUCOSYAMINYLTRANSFERASE 2; B3GNT2 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 1, FORMERLY; B3GNT1, FORMERLY;; B3GNT Percent 605582 CARDIOMYOPATHY, DILATED, 1K; CMD1K Number Sign 605583 DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25 Asterisk 605584 DEAH BOX POLYPEPTIDE 38; DHX38 PRP16, S. CEREVISIAE, HOMOLOG OF; PRP16;; DDX38 Asterisk 605585 CELL DIVISION CYCLE 40, S. CEREVISIAE, HOMOLOG OF; CDC40 PRP17, S. CEREVISIAE, HOMOLOG OF; PRP17 Asterisk 605586 IMPORTIN 7; IPO7 RAN-BINDING PROTEIN 7; RANBP7 Asterisk 605587 PROTEASE INHIBITOR 14; PI14 SERINE PROTEASE INHIBITOR, CLADE I, MEMBER 2; SERPINI2;; MYOEPITHELIUM-DERIVED SERINE PROTEASE INHIBITOR; MEPI;; PANCPIN Number Sign 605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1; CMT2B1 CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B1 Number Sign 605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2;; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B2;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B2;; ARCMT2B Asterisk 605590 SPLICING FACTOR 3B, SUBUNIT 1; SF3B1 SF3B, 155-KD SUBUNIT; SF3B155;; SPLICEOSOME-ASSOCIATED PROTEIN, 155-KD; SAP155 Asterisk 605591 SPLICING FACTOR 3B, SUBUNIT 2; SF3B2 SF3B, 145-KD SUBUNIT; SF3B145;; SPLICEOSOME-ASSOCIATED PROTEIN, 145-KD; SAP145 Asterisk 605592 SPLICING FACTOR 3B, SUBUNIT 3; SF3B3 SF3B, 130-KD SUBUNIT; SF3B130;; SPLICEOSOME-ASSOCIATED PROTEIN, 130-KD; SAP130 Asterisk 605593 SPLICING FACTOR 3B, SUBUNIT 4; SF3B4 SF3B, 49-KD SUBUNIT; SF3B49;; SPLICEOSOME-ASSOCIATED PROTEIN, 49-KD; SAP49 Number Sign 605594 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 DFNA39/DENTINOGENESIS IMPERFECTA 1 SYNDROME;; DFNA39/DGI1 SYNDROME;; DGI1/DFNA39 SYNDROME Asterisk 605595 SPLICING FACTOR 3A, SUBUNIT 1; SF3A1 SF3A, 120-KD SUBUNIT; SF3A120;; SPLICEOSOME-ASSOCIATED PROTEIN, 114-KD; SAP114;; PRP21, S. CEREVISIAE, HOMOLOG OF; PRP21 Asterisk 605596 SPLICING FACTOR 3A, SUBUNIT 3; SF3A3 SF3A, 60-KD SUBUNIT; SF3A60;; SPLICEOSOME-ASSOCIATED PROTEIN, 61-KD; SAP61;; PRP9, S. CEREVISIAE, HOMOLOG OF; PRP9 Asterisk 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2 PITUITARY FORKHEAD FACTOR, MOUSE, HOMOLOG OF; PFRK Percent 605598 DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18 INSULIN-DEPENDENT DIABETES MELLITUS 18 Asterisk 605599 LYSOPHOSPHOLIPASE I; LYPLA1 ACYL PROTEIN THIOESTERASE 1; APT1 Asterisk 605600 IMPORTIN 8; IPO8 IMP8;; RAN-BINDING PROTEIN 8; RANBP8 Asterisk 605601 PROTEOGLYCAN 2; PRG2 EOSINOPHIL GRANULE MAJOR BASIC PROTEIN; MBP Asterisk 605602 MYOZENIN 2; MYOZ2 CALSARCIN 1 Asterisk 605603 MYOZENIN 1; MYOZ1 CALSARCIN 2 Asterisk 605604 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2; PAIP2 POLY(A)-BINDING PROTEIN-INTERACTING PROTEIN 2;; PABP-INTERACTING PROTEIN 2;; PAIP2A Caret 605605 MOVED TO 605535 Percent 605606 PSORIASIS 7, SUSCEPTIBILITY TO; PSORS7 Asterisk 605607 CENTROMERIC PROTEIN H; CENPH Asterisk 605608 CLAUDIN 14; CLDN14 Asterisk 605609 OXIDATION RESISTANCE 1; OXR1 Asterisk 605610 POLYNUCLEOTIDE KINASE 3-PRIME PHOSPHATASE; PNKP POLYNUCLEOTIDE KINASE; PNK;; DNA KINASE Asterisk 605611 SH3 DOMAIN-BINDING PROTEIN 4; SH3BP4 BOG25 Asterisk 605612 SH3 DOMAIN-BINDING PROTEIN 5; SH3BP5 SAB Asterisk 605613 HUNTINGTIN-INTERACTING PROTEIN 1-RELATED PROTEIN; HIP1R HUNTINGTIN-INTERACTING PROTEIN 12; HIP12;; HIP1-RELATED PROTEIN Asterisk 605614 GENERAL CONTROL OF AMINO ACID SYNTHESIS 1, YEAST, HOMOLOG-LIKE 1; GCN1L1 Asterisk 605615 ARIADNE, DROSOPHILA, HOMOLOG OF, 2; ARIH2 ARI2;; TRIAD DOMAIN-CONTAINING PROTEIN 1; TRIAD1 Asterisk 605616 SOLUTE CARRIER FAMILY 6 (PROLINE IMINO TRANSPORTER), MEMBER 20; SLC6A20 X TRANSPORTER PROTEIN 3; XT3 Caret 605617 MOVED TO 220600 NULL 605618 TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE Asterisk 605619 INTERLEUKIN 20; IL20 Asterisk 605620 INTERLEUKIN 20 RECEPTOR, ALPHA; IL20RA IL20R1 Asterisk 605621 INTERLEUKIN 20 RECEPTOR, BETA; IL20RB IL20R2;; DIRS1 Asterisk 605622 PROTOCADHERIN 12; PCDH12 CADHERIN, VASCULAR ENDOTHELIAL, 2; VECAD2;; VE-CADHERIN 2 Asterisk 605623 MUSKELIN 1; MKLN1 TWO-HYBRID-ASSOCIATED PROTEIN WITH RANBPM 2; TWA2 Asterisk 605624 ARIADNE, DROSOPHILA, HOMOLOG OF, 1; ARIH1 HHARI;; UBCH7-BINDING PROTEIN; UBCH7BP Asterisk 605625 MYELOMA OVEREXPRESSED GENE; MYEOV Asterisk 605626 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 6; ERVK-6 Percent 605627 CEREBROOCULONASAL SYNDROME Asterisk 605628 HIV-1 TAT-INTERACTING PROTEIN 2, 30-KD; HTATIP2 TIP30;; CC3 Asterisk 605629 CITRON RHO-INTERACTING SERINE/THREONINE KINASE; CIT SERINE/THREONINE PROTEIN KINASE 21; STK21;; CITRON RHO-INTERACTING KINASE; CRIK;; RHO-INTERACTING SERINE/THREONINE KINASE Asterisk 605630 PHOSPHOLIPASE A2, GROUP IID; PLA2G2D SECRETORY-TYPE PLA, STROMA-ASSOCIATED HOMOLOG; SPLASH Asterisk 605631 NAPSIN A; NAPSA PRONAPSIN A;; NAPA;; NAP1 Asterisk 605632 SOLUTE CARRIER FAMILY 35 (UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER 3; SLC35A3 UDP-N-ACETYLGLUCOSAMINE TRANSPORTER;; UDP-GlcNAc TRANSPORTER Asterisk 605633 MUCIN 3B, INTESTINAL; MUC3B Asterisk 605634 SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1; SLC35A1 CYTIDINE MONOPHOSPHATE-SIALIC ACID TRANSPORTER; CST;; CMP-SIA TRANSPORTER Number Sign 605635 HYPERALDOSTERONISM, FAMILIAL, TYPE II; HALD2 FH II Asterisk 605636 MATERNALLY EXPRESSED GENE 3; MEG3 GENE TRAP LOCUS 2; GTL2 Number Sign 605637 MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA MYPOP;; MYOPATHY WITH CONGENITAL JOINT CONTRACTURES, OPHTHALMOPLEGIA, AND RIMMED VACUOLES;; INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT, FORMERLY; IBM3, FORMERLY Asterisk 605638 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6; BIRC6 APOLLON;; BRUCE, MOUSE, HOMOLOG OF; BRUCE;; KIAA1289 Asterisk 605639 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 8; SIGLEC8 SIALOADHESIN FAMILY MEMBER 2; SAF2 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 8, LONG ISOFORM, INCLUDED; SIGLEC8L, INCLUDED Asterisk 605640 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 9; SIGLEC9 Asterisk 605641 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 6; SLC7A6 y(+)L-TYPE AMINO ACID TRANSPORTER 2;; y(+)LAT2 Percent 605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA PTCPRN;; PRN1 Asterisk 605643 KALLIKREIN-RELATED PEPTIDASE 5; KLK5 KALLIKREIN 5;; STRATUM CORNEUM TRYPTIC ENZYME; SCTE;; KALLIKREIN-LIKE 2; KLKL2 Asterisk 605644 KALLIKREIN-RELATED PEPTIDASE 8; KLK8 KALLIKREIN 8;; NEUROPSIN, MOUSE, HOMOLOG OF;; TUMOR-ASSOCIATED DIFFERENTIALLY EXPRESSED GENE 14; TADG14;; PROTEASE, SERINE, 19; PRSS19 NEUROPSIN, TYPE 1, INCLUDED;; NEUROPSIN, TYPE 2, INCLUDED Asterisk 605645 RESISTIN-LIKE PROTEIN, BETA; RETNLB RESISTIN-LIKE MOLECULE-BETA; RELMB;; FOUND IN INFLAMMATORY ZONE 2; FIZZ2 Asterisk 605646 SOLUTE CARRIER FAMILY 26, MEMBER 4; SLC26A4 PENDRIN;; PDS GENE Asterisk 605647 F-BOX ONLY PROTEIN 6; FBXO6 FBX6;; F-BOX/G-DOMAIN PROTEIN 2; FBG2 Asterisk 605648 F-BOX ONLY PROTEIN 7; FBXO7 FBX7;; FBX Asterisk 605649 F-BOX ONLY PROTEIN 8; FBXO8 FBX8;; F-BOX/SEC7 PROTEIN; FBS Asterisk 605650 POLYMERASE, DNA, KAPPA; POLK DINB1;; POLQ Asterisk 605651 F-BOX AND WD40 DOMAIN PROTEIN 11; FBXW11 FBW11;; F-BOX AND WD40 DOMAIN PROTEIN 1B, FORMERLY; FBXW1B, FORMERLY;; FBW1B;; BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2; BTRC2; BTRCP2 BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2, ISOFORM A, INCLUDED; BTRCP2A, INCLUDED;; BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2, ISOFORM B, INCLUDED; BTRCP2B, INCLUDED;; BETA-TRANSDUCIN REPEAT-CONTAINING PROTEIN 2, ISOFORM C, INCLUDED; BTRCP2C, INCLUDED Asterisk 605652 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 2; FBXL2 FBL2 Asterisk 605653 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3; FBXL3 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 3A, FORMERLY; FBXL3A, FORMERLY;; FBL3A;; FBL3 Asterisk 605654 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 4; FBXL4 FBL4 Asterisk 605655 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 5; FBXL5 FBL5 Asterisk 605656 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 7; FBXL7 FBL7;; KIAA0840 Asterisk 605657 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 11; FBXL11 FBL11;; CXXC FINGER PROTEIN 8; CXXC8;; KIAA1004;; JMJC DOMAIN-CONTAINING HISTONE DEMETHYLASE 1; JHDM1A Asterisk 605658 INTERLEUKIN 25; IL25 INTERLEUKIN 17E; IL17E Asterisk 605659 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER D; CLEC2D NATURAL KILLER CELL LECTIN-LIKE RECEPTOR;; LECTIN-LIKE TRANSCRIPT 1; LLT1 Asterisk 605660 PREFOLDIN 6; PFDN6 KE2, MOUSE, HOMOLOG OF; HKE2 Asterisk 605661 TRIPARTITE MOTIF-CONTAINING PROTEIN 13; TRIM13 RET FINGER PROTEIN 2; RFP2;; LEU5 Asterisk 605662 RAS-ASSOCIATED PROTEIN RAB36; RAB36 Asterisk 605663 RADIAL SPOKE HEAD 14, CHLAMYDOMONAS, HOMOLOG OF; RSPH14 RHABDOID TUMOR DELETION REGION GENE 1; RTDR1 Asterisk 605664 KINESIN FAMILY MEMBER 20A; KIF20A RAB6-INTERACTING PROTEIN, KINESIN-LIKE; RAB6KIFL;; RABKINESIN 6 Caret 605665 MOVED TO 600582 Asterisk 605666 CYSTEINYL LEUKOTRIENE RECEPTOR 2; CYSLTR2 CYSLT2 Asterisk 605667 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 1; RGL1 RALGDS-LIKE GENE; RGL Asterisk 605668 BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 2; BACE2 BETA-SITE APP-CLEAVING ENZYME 2;; ASPARTIC-LIKE PROTEASE, 56-KD; ALP56;; DOWN SYNDROME REGION ASPARTIC PROTEASE; DRAP Asterisk 605669 PROSTATE AND BREAST CANCER OVEREXPRESSED 1; PBOV1 UROC28;; UC28 Number Sign 605670 LATE-ONSET RETINAL DEGENERATION; LORD RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT Asterisk 605671 DMX-LIKE 1; DMXL1 NULL 605672 CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM Asterisk 605673 B-CELL TRANSLOCATION GENE 4; BTG4 PC3B Asterisk 605674 B-CELL TRANSLOCATION GENE 3; BTG3 ABUNDANT IN NEUROEPITHELIUM AREA; ANA;; TOB5 Asterisk 605675 RING FINGER PROTEIN 14; RNF14 ANDROGEN RECEPTOR-ASSOCIATED PROTEIN 54; ARA54 Number Sign 605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA; DCWHK CARVAJAL SYNDROME;; PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR Asterisk 605677 ACYL-CoA SYNTHETASE LONG CHAIN FAMILY, MEMBER 5; ACSL5 FATTY ACID CoA LIGASE, LONG CHAIN 5; FACL5;; ACYL-CoA SYNTHETASE 5; ACS5 Asterisk 605678 MLX-INTERACTING PROTEIN-LIKE; MLXIPL WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 14; WBSCR14;; MONDO FAMILY, MEMBER B; MONDOB;; CARBOHYDRATE RESPONSE ELEMENT-BINDING PROTEIN, RAT, HOMOLOG OF; CHREBP Asterisk 605679 INTERLEUKIN 26; IL26 AK155 Asterisk 605680 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1A; BAZ1A WCRF180;; ACF1, DROSOPHILA, HOMOLOG OF; ACF1 Asterisk 605681 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 1B; BAZ1B WILLIAMS SYNDROME TRANSCRIPTION FACTOR; WSTF;; WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 9; WBSCR9 Asterisk 605682 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 2A; BAZ2A Asterisk 605683 BROMODOMAIN ADJACENT TO ZINC FINGER DOMAIN, 2B; BAZ2B Asterisk 605684 TRIPARTITE MOTIF-CONTAINING PROTEIN 34; TRIM34 RING FINGER PROTEIN 21; RNF21;; INTERFERON-RESPONSIVE FINGER PROTEIN 1; IFP1 Caret 605685 MOVED TO 216550 Asterisk 605686 CELL ADHESION MOLECULE 1; CADM1 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4; IGSF4;; IGSF4A;; TUMOR SUPPRESSOR IN LUNG CANCER 1; TSLC1;; BL2;; ST17;; SYNAPTIC CELL ADHESION MOLECULE; SYNCAM;; SYNCAM1;; NECTIN-LIKE PROTEIN 2; NECL2 Asterisk 605687 INTERLEUKIN 19; IL19 Asterisk 605688 COPINE VI; CPNE6 N-COPINE Asterisk 605689 COPINE VII; CPNE7 Asterisk 605690 BRD4-INTERACTING CHROMATIN REMODELING COMPLEX-ASSOCIATED PROTEIN; BICRA GLIOMA TUMOR SUPPRESSOR CANDIDATE REGION GENE 1; GLTSCR1 Asterisk 605691 RIBOSOME BIOGENESIS FACTOR NOP53; NOP53 GLIOMA TUMOR SUPPRESSOR CANDIDATE REGION GENE 2; GLTSCR2;; PROTEIN INTERACTING WITH PTEN C TERMINUS 1; PICT1 Asterisk 605692 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7; TRPM7 LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; LTRPC7;; TRANSIENT RECEPTOR POTENTIAL-PHOSPHOLIPASE C-INTERACTING KINASE; TRP-PLIK;; CHAK TRPM7/CYP19A1 FUSION GENE, INCLUDED Asterisk 605693 RAS-ASSOCIATED PROTEIN RAB30; RAB30 Asterisk 605694 RAS-ASSOCIATED PROTEIN RAB31; RAB31 Asterisk 605695 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 4; BLOC1S4 BLOC1, SUBUNIT 4; BLOS4;; CAPPUCCINO, MOUSE, HOMOLOG OF; CNO Asterisk 605696 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 2; KCNG2 Kv6.2 Asterisk 605697 UL16-BINDING PROTEIN 1; ULBP1 RETINOIC ACID EARLY TRANSCRIPT 1I; RAET1I;; MULT1 Asterisk 605698 UL16-BINDING PROTEIN 2; ULBP2 RETINOIC ACID EARLY TRANSCRIPT 1H; RAET1H Asterisk 605699 UL16-BINDING PROTEIN 3; ULBP3 RETINOIC ACID EARLY TRANSCRIPT 1N; RAET1N Asterisk 605700 TRIPARTITE MOTIF-CONTAINING PROTEIN 39; TRIM39 TESTIS-ABUNDANT FINGER PROTEIN; TFP;; TRIM39, B30.2 DOMAIN-CONTAINING; TRIM39B;; RING FINGER PROTEIN 23, FORMERLY; RNF23, FORMERLY TRIM39/RPP21 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED;; TRIM39, RPP21 DOMAIN-CONTAINING, INCLUDED; TRIM39R, INCLUDED Asterisk 605701 TRIPARTITE MOTIF-CONTAINING PROTEIN 10; TRIM10 RFB30;; HEMATOPOIETIC RING FINGER 1; HERF1;; RING FINGER PROTEIN 9, FORMERLY; RNF9, FORMERLY Asterisk 605702 LYMPHATIC VESSEL ENDOTHELIAL HYALURONAN RECEPTOR 1 LYVE1 Asterisk 605703 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN A; VAPA VAMP-ASSOCIATED PROTEIN A;; VAMP-ASSOCIATED PROTEIN, 33-KD; VAP33 Asterisk 605704 VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAPB VAMP-ASSOCIATED PROTEIN B;; DVAP33A, DROSOPHILA, HOMOLOG OF VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN C, INCLUDED; VAPC, INCLUDED;; VAMP-ASSOCIATED PROTEIN C, INCLUDED Asterisk 605705 SALT-INDUCIBLE KINASE 1; SIK1 SNF1-LIKE KINASE; SNF1LK;; MSK, MOUSE, HOMOLOG OF Asterisk 605706 RECEPTOR-INTERACTING SERINE-THREONINE KINASE 4; RIPK4 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 3; ANKRD3;; PKC-DELTA-INTERACTING PROTEIN KINASE; DIK;; RIP4 Caret 605707 MOVED TO 604985 Asterisk 605708 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 11; ARHGEF11 PDZ-RHOGEF;; GLUTAMATE TRANSPORTER EAAT4-ASSOCIATED PROTEIN 48; GTRAP48;; KIAA0380 Asterisk 605709 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 5; ARL6IP5 PRA1 DOMAIN FAMILY, MEMBER 3; PRAF3;; GLUTAMATE TRANSPORTER EAAC1-ASSOCIATED PROTEIN;; GTRAP3-18;; JWA Asterisk 605710 GDNF FAMILY RECEPTOR ALPHA-3; GFRA3 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR RECEPTOR ALPHA-3 Number Sign 605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 MMDS Asterisk 605712 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1; SPTLC1 SPT1;; LCB1 Asterisk 605713 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 2; SPTLC2 SPT2;; LCB2A;; KIAA0526 Number Sign 605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED;; AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT; HCHWAD;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT;; CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT Asterisk 605715 CD276 ANTIGEN; CD276 B7 HOMOLOG 3; B7H3 Asterisk 605716 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 5; KCNH5 Asterisk 605717 INDUCIBLE T-CELL COSTIMULATOR LIGAND; ICOSLG ICOS LIGAND; ICOSL; LICOS;; B7 HOMOLOG 2; B7H2;; GL50;; B7-RELATED PROTEIN 1; B7RP1 Asterisk 605718 MEDIATOR COMPLEX SUBUNIT 4; MED4 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 4, S. CEREVISIAE, HOMOLOG OF;; VITAMIN D RECEPTOR-INTERACTING PROTEIN, 36-KD; DRIP36;; MEDIATOR, 34-KD SUBUNIT, MOUSE, HOMOLOG OF;; HSPC126 Asterisk 605719 LINKER FOR ACTIVATION OF T CELLS FAMILY, MEMBER 2; LAT2 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 5; WBSCR5;; LINKER FOR ACTIVATION OF B CELLS; LAB;; NON-T-CELL ACTIVATION LINKER; NTAL Asterisk 605720 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 4; KCNK4 TRAAK Asterisk 605721 JUNCTION ADHESION MOLECULE 1; JAM1 JUNCTION ADHESION MOLECULE, MOUSE, HOMOLOG OF; JAM;; JAM-A Asterisk 605722 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 16; KCNJ16 KIR5.1 Asterisk 605723 PROGRAMMED CELL DEATH 1 LIGAND 2; PDCD1LG2 PDCD1 LIGAND 2; PDCD1L2;; PROGRAMMED DEATH LIGAND 2; PDL2;; B7DC Number Sign 605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 FAD1 Asterisk 605725 PERIAXIN; PRX Number Sign 605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2 NEURONOPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE;; NEUROPATHY, DISTAL HEREDITARY MOTOR, JERASH TYPE; HMNJ;; SPINAL MUSCULAR ATROPHY, JERASH TYPE Percent 605727 OTOSCLEROSIS 2; OTSC2 Percent 605728 CATARACT 25; CTRCT25 CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES; CCSSO;; CATARACT, CENTRAL POUCH-LIKE, WITH SUTURAL OPACITIES Asterisk 605729 AT-HOOK TRANSCRIPTION FACTOR AKNA; AKNA Asterisk 605730 SPERM-ASSOCIATED ANTIGEN 6; SPAG6 Asterisk 605731 SPERM-ASSOCIATED ANTIGEN 8; SPAG8 SPERM MEMBRANE PROTEIN 1; SMP1 Asterisk 605732 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 21; TNFRSF21 DEATH RECEPTOR 6; DR6 Asterisk 605733 PRELI DOMAIN-CONTAINING PROTEIN 1; PRELID1 PRELI;; PX19, CHICKEN, HOMOLOG OF; PX19 Asterisk 605734 TRANSMEMBRANE PROTEIN WITH EGF-LIKE AND 2 FOLLISTATIN-LIKE DOMAINS 2; TMEFF2 TOMOREGULIN; TR;; HYPERPLASTIC POLYPOSIS GENE 1; HPP1 Percent 605735 BLEEDING DISORDER, PLATELET-TYPE, 12; BDPLT12 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET;; PGHS1 DEFICIENCY;; PLATELET CYCLOOXYGENASE 1 DEFICIENCY;; PLATELET COX1 DEFICIENCY Asterisk 605736 UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN A; UBASH3A SUPPRESSOR OF T-CELL RECEPTOR SIGNALING 2; STS2;; CBL-INTERACTING PROTEIN 4; CLIP4;; TULA Asterisk 605737 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 7; BIRC7 INHIBITOR OF APOPTOSIS PROTEIN, MELANOMA; MLIAP;; INHIBITOR OF APOPTOSIS PROTEIN, KIDNEY; KIAP;; LIVIN Percent 605738 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 2; MCOPCB2 MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 2; MCOPCB2 Asterisk 605739 KYPHOSCOLIOSIS PEPTIDASE; KY KYPHOSCOLIOSIS, MOUSE, HOMOLOG OF Asterisk 605740 SCLEROSTIN; SOST Asterisk 605741 G PROTEIN-COUPLED RECEPTOR 183; GPR183 EPSTEIN-BARR VIRUS-INDUCED GENE 2; EBI2 Asterisk 605742 TUBULIN, ALPHA-8; TUBA8 TUBULIN, ALPHA-LIKE 2; TUBAL2 Asterisk 605743 HEDGEHOG ACYLTRANSFERASE; HHAT MELANOMA ANTIGEN RECOGNIZED BY T CELLS 2; MART2;; SKINNY HEDGEHOG, DROSOPHILA, HOMOLOG OF; SKI1 Asterisk 605744 EXOSTOSIN-LIKE GLYCOSYLTRANSFERASE 3; EXTL3 EXOSTOSIN-LIKE 3;; MULTIPLE EXOSTOSES-LIKE 3;; EXT-RELATED GENE 1; EXTR1;; REG PROTEIN RECEPTOR, RAT, HOMOLOG OF Asterisk 605745 CYTOCHROME b REDUCTASE 1; CYBRD1 DUODENAL CYTOCHROME b; DCYTB Percent 605746 ANISOMASTIA Asterisk 605747 LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1 LDLR ADAPTOR PROTEIN 1;; ARH GENE; ARH Asterisk 605748 BETA-CAROTENE OXYGENASE 1; BCO1 BETA-CAROTENE 15,15-PRIME-MONOOXYGENASE 1; BCMO1;; BETA-CAROTENE 15,15-PRIME-DIOXYGENASE; BCDO;; BETA-CAROTENE 15,15-PRIME OXYGENASE 1 Percent 605749 CATARACT 26, MULTIPLE TYPES; CTRCT26 CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT; CAAR Percent 605750 EXUDATIVE VITREORETINOPATHY 3; EVR3 Number Sign 605751 SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; BFIC2 Asterisk 605752 HID1 DOMAIN-CONTAINING PROTEIN 1; HID1 DOWNREGULATED IN MULTIPLE CANCERS 1; DMC1;; CHROMOSOME 17 OPEN READING FRAME 28; C17ORF28 Asterisk 605753 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 2; SPINK2 ACROSIN-TRYPSIN INHIBITOR HUSI-II Asterisk 605754 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Q PROTEIN; PIGQ Asterisk 605755 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 2; DCDC2 RU2;; RU2S NULL 605756 OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH SHORT STATURE AND RECURRENT METABOLIC ACIDOSIS GONADAL DYSGENESIS, HYPERGONADOTROPIC, XX TYPE, WITH SHORT STATURE AND RECURRENT METABOLIC ACIDOSIS Asterisk 605757 PELOTA, DROSOPHILA, HOMOLOG OF; PELO Asterisk 605758 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; ASB1 Asterisk 605759 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 2; ASB2 Asterisk 605760 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 3; ASB3 Asterisk 605761 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 4; ASB4 Asterisk 605762 RENAL TUMOR ANTIGEN; RAGE MOK Asterisk 605763 SOLUTE CARRIER FAMILY 45, MEMBER 1; SLC45A1 DELETED IN NEUROBLASTOMA 5; DNB5 Asterisk 605764 TYROSYL-DNA PHOSPHODIESTERASE 2; TDP2 TRAF- AND TNF RECEPTOR-ASSOCIATED PROTEIN; TTRAP Asterisk 605765 DELETED IN LYMPHOCYTIC LEUKEMIA, 1; DLEU1 LEU1;; B-CELL NEOPLASIA-ASSOCIATED GENE WITH MULTIPLE SPLICING; BCMS Asterisk 605766 DELETED IN LYMPHOCYTIC LEUKEMIA, 2; DLEU2 LEU2;; BCMSUN Asterisk 605767 PHOSPHOPROTEIN ASSOCIATED WITH GLYCOSPHINGOLIPID-ENRICHED MICRODOMAINS 1; PAG1 CSK-BINDING PROTEIN; CBP Asterisk 605768 DUAL ADAPTOR OF PHOSPHOTYROSINE AND 3-PHOSPHOINOSITIDES 1 DAPP1;; B-CELL ADAPTOR MOLECULE, 32-KD; BAM32 Asterisk 605769 TRIPARTITE MOTIF-CONTAINING PROTEIN 33; TRIM33 TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-GAMMA; TIF1G;; TIF1-GAMMA;; RET-FUSED GENE 7; RFG7;; ECTODERMIN, XENOPUS, HOMOLOG OF; ECTO PTC7 CHIMERIC ONCOGENE, INCLUDED Asterisk 605770 ILVB-LIKE; ILVBL ACETOLACTATE SYNTHASE, BACTERIAL, HOMOLOG OF; AHAS Asterisk 605771 COX7A2-LIKE PROTEIN; COX7A2L CYTOCHROME C OXIDASE SUBUNIT 7A2-LIKE;; CYTOCHROME C OXIDASE SUBUNIT VIIA POLYPEPTIDE 2-LIKE;; COX7RP;; COX7AR;; EB1;; SUPERCOMPLEX ASSEMBLY FACTOR 1; SCAF1;; SILICA-INDUCED GENE 81; SIG81 Asterisk 605772 ESTROGEN RECEPTOR-BINDING SITE-ASSOCIATED ANTIGEN, 9; EBAG9 RCAS1;; EB9 Asterisk 605773 LEUKOTRIENE B4 RECEPTOR 2; LTB4R2 LEUKOTRIENE B4 G PROTEIN-COUPLED RECEPTOR 2; BLT2; BLTR2 Asterisk 605774 KELCH-LIKE 2; KLHL2 MAYVEN Asterisk 605775 KELCH-LIKE 3; KLHL3 Asterisk 605776 FIBRINOGEN-LIKE 1; FGL1 HEPATOCYTE-DERIVED FIBRINOGEN-RELATED PROTEIN 1; HFREP1;; HEPASSOCIN Asterisk 605777 SPHINGOMYELIN PHOSPHODIESTERASE 3, NEUTRAL MEMBRANE; SMPD3 SPHINGOMYELINASE, NEUTRAL, 2; NSMASE2 Asterisk 605778 NIF3-LIKE 1; NIF3L1 ALS2 CHROMOSOME REGION GENE 1; ALS2CR1 Percent 605779 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7; NDNC7 ONYCHODYSPLASIA, ISOLATED CONGENITAL Asterisk 605780 PR DOMAIN-CONTAINING PROTEIN 4; PRDM4 PFM1 Asterisk 605781 RAS HOMOLOG GENE FAMILY, MEMBER D; RHOD ARHD;; RHO-RELATED PROTEIN HP1; RHOHP1 Asterisk 605782 EUKARYOTIC TRANSLATION INITIATION FACTOR 5A2; EIF5A2 Asterisk 605783 BREAST CARCINOMA AMPLIFIED SEQUENCE 2; BCAS2 DAM1 Asterisk 605784 TWEETY, DROSOPHILA, HOMOLOG OF, 1; TTYH1 Asterisk 605785 TUBULIN, GAMMA-2; TUBG2 Asterisk 605786 RNA-BINDING MOTIF PROTEIN, SINGLE STRAND-INTERACTING, 3; RBMS3 Asterisk 605787 ANKYRIN REPEAT-CONTAINING PROTEIN, FAMILY A, MEMBER 2; ANKRA2 ANKRA;; RFXANK-LIKE PROTEIN Asterisk 605788 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 3; MAPRE3 ADENOMATOUS POLYPOSIS COLI-BINDING PROTEIN EB3; EB3;; APC-BINDING PROTEIN RP3; RP3;; EB1 FAMILY, MEMBER 3; EBF3 Asterisk 605789 MICROTUBULE-ASSOCIATED PROTEIN, RP/EB FAMILY, MEMBER 2; MAPRE2 ADENOMATOUS POLYPOSIS COLI-BINDING PROTEIN EB2; EB2;; APC-BINDING PROTEIN RP1; RP1 Asterisk 605790 SERINE/THREONINE KINASE 31; STK31 Asterisk 605791 TESTIS-EXPRESSED GENE 12; TEX12 Asterisk 605792 TESTIS-EXPRESSED GENE 14; TEX14 Asterisk 605793 RING FINGER PROTEIN 17; RNF17 Asterisk 605794 MOV10-LIKE 1; MOV10L1 CARDIAC HELICASE ACTIVATED BY MEF2C PROTEIN; CHAMP Asterisk 605795 TESTIS-EXPRESSED GENE 15; TEX15 Asterisk 605796 TUDOR DOMAIN-CONTAINING PROTEIN 1; TDRD1 Asterisk 605797 ANKYRIN REPEAT, SAM, AND BASIC LEUCINE ZIPPER DOMAIN-CONTAINING 1; ASZ1 ANKYRIN-LIKE PROTEIN 1; ALP1;; ANKL1;; GERM CELL-SPECIFIC PROTEIN CONTAINING ANK, SAM, AND BASIC LEUCINE ZIPPER DOMAINS; GASZ;; C7ORF7 Asterisk 605798 NEURAL PROLIFERATION, DIFFERENTIATION, AND CONTROL PROTEIN 1; NPDC1 CAB1, YEAST, HOMOLOG OF; CAB1 Asterisk 605799 AMNIONLESS, MOUSE, HOMOLOG OF; AMN Asterisk 605800 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U-LIKE 1; HNRNPUL1 HNRPUL1;; ADENOVIRUS E1B 55-KD PROTEIN-ASSOCIATED PROTEIN 5;; E1B55-ASSOCIATED PROTEIN 5; E1BAP5 Asterisk 605801 RALA-BINDING PROTEIN 1; RALBP1 RAL-INTERACTING PROTEIN, 76-KD; RLIP76;; RAL-INTERACTING PROTEIN 1; RIP1;; DINITROPHENYL S-GLUTATHIONE ATPase;; DNP-SG ATPase Asterisk 605802 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2 ZINC FINGER HOMEOBOX 1B; ZFHX1B;; SMAD-INTERACTING PROTEIN 1; SMADIP1;; SIP1;; KIAA0569 Number Sign 605803 DERMATITIS, ATOPIC, 2; ATOD2 Percent 605804 DERMATITIS, ATOPIC, 3; ATOD3 DERMATITIS, ATOPIC, WITH ASTHMA Percent 605805 DERMATITIS, ATOPIC, 4; ATOD4 Asterisk 605806 CADHERIN 7; CDH7 Asterisk 605807 CADHERIN 20; CDH20 NULL 605808 BIRDSHOT CHORIORETINOPATHY BSCR Number Sign 605809 MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL; CMS4A CONGENITAL MYASTHENIC SYNDROME TYPE Ia1, FORMERLY; CMS1A1, FORMERLY;; CMS Ia1, FORMERLY Asterisk 605810 MITOCHONDRIAL RIBOSOMAL PROTEIN S22; MRPS22 CHROMOSOME 3 OPEN READING FRAME 5; C3ORF5 Asterisk 605811 NTF2-LIKE EXPORT FACTOR 1; NXT1 MTR2, YEAST, HOMOLOG OF; MTR2 Asterisk 605812 DEAD/H BOX 19; DDX19 DBP5, YEAST, HOMOLOG OF; DBP5 Asterisk 605813 NUCLEAR TRANSPORT FACTOR 2 NTF2;; PLACENTAL PROTEIN 15; PP15 Number Sign 605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET CITRULLINEMIA, TYPE II, NEONATAL-ONSET, WITH OR WITHOUT FAILURE TO THRIVE AND DYSLIPIDEMIA;; CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY; NICCD Asterisk 605815 NUCLEOPORIN, 62-KD; NUP62 Asterisk 605816 EPSTEIN-BARR VIRUS-INDUCED GENE 3; EBI3 INTERLEUKIN 27, EBI3 SUBUNIT;; IL27, EBI3 SUBUNIT;; INTERLEUKIN 35, EBI3 SUBUNIT;; IL35, EBI3 SUBUNIT Asterisk 605817 RECEPTOR-INTERACTING SERINE/THREONINE KINASE 3; RIPK3 RECEPTOR-INTERACTING PROTEIN 3; RIP3 Percent 605818 DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27 Asterisk 605819 PESCADILLO, ZEBRAFISH, HOMOLOG OF, 1; PES1 PES Number Sign 605820 NONAKA MYOPATHY; NM NONAKA DISTAL MYOPATHY;; MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES;; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; HIBM;; INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING; QSM;; GNE MYOPATHY;; INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY; IBM2, FORMERLY Asterisk 605821 ERYTHROID-ASSOCIATED FACTOR; ERAF ERYTHROID DIFFERENTIATION-RELATED FACTOR; EDRF;; ALPHA-HEMOGLOBIN STABILIZING PROTEIN; AHSP Number Sign 605822 SPONDYLOOCULAR SYNDROME; SOS Asterisk 605823 POPEYE DOMAIN-CONTAINING PROTEIN 2; POPDC2 POPEYE PROTEIN 2; POP2 Asterisk 605824 POPEYE DOMAIN-CONTAINING PROTEIN 3; POPDC3 POPEYE PROTEIN 3; POP3 Asterisk 605825 HEME-BINDING PROTEIN 2; HEBP2 CHROMOSOME 6 OPEN READING FRAME 34; C6ORF34;; SOUL, CHICKEN, HOMOLOG OF; SOUL Asterisk 605826 HEME-BINDING PROTEIN 1; HEBP1 HBP; HEBP FPRL2 LIGAND, INCLUDED; F2L, INCLUDED Percent 605827 BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT; GBFHS Asterisk 605828 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 6; TMC6 EV1 GENE; EV1;; EVER1 Asterisk 605829 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 8; TMC8 EV GENE 2; EV2;; EVER2 Asterisk 605830 FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1; FGFRL1 Asterisk 605831 FIBROBLAST GROWTH FACTOR 22; FGF22 Asterisk 605832 ACETYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 2; ACSS2 ACS;; ACETATE-CoA LIGASE;; ACYL-CoA SYNTHETASE 1; ACECS1 Percent 605833 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2 Asterisk 605834 TROPOMODULIN 4; TMOD4 Asterisk 605835 TRANSMEMBRANE PROTEIN 2; TMEM2 Asterisk 605836 UNC13, C. ELEGANS, HOMOLOG OF, B; UNC13B UNC13;; MUNC13 Asterisk 605837 HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2 NULL 605838 BABY RATTLE PELVIS DYSPLASIA Caret 605839 MOVED TO 150800 Asterisk 605840 RING FINGER PROTEIN 111; RNF111 ARKADIA, MOUSE, HOMOLOG OF Percent 605841 NARCOLEPSY 2, SUSCEPTIBILITY TO; NRCLP2 Asterisk 605842 TRANSDUCIN-BETA-LIKE 2; TBL2 WBSCR13 Asterisk 605843 PEROXISOMAL TRANS-2-ENOYL-CoA REDUCTASE; PECR TRANS-2-ENOYL-CoA REDUCTASE, PEROXISOMAL; TERP Percent 605844 DERMATITIS, ATOPIC, 5; ATOD5 Percent 605845 DERMATITIS, ATOPIC, 6; ATOD6 Asterisk 605846 B-CELL CLL/LYMPHOMA 7B; BCL7B Asterisk 605847 B-CELL CLL/LYMPHOMA 7C; BCL7C Asterisk 605848 CASPASE 14, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP14 Asterisk 605849 DIMETHYLGLYCINE DEHYDROGENASE; DMGDH Number Sign 605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD DMGDH DEFICIENCY Asterisk 605851 ISOPRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE; ICMT PRENYLCYSTEINE CARBOXYLMETHYLTRANSFERASE; PCCMT; PCMT Asterisk 605852 CYTOPLASMIC LINKER-ASSOCIATED PROTEIN 1; CLASP1 CLIP-ASSOCIATED PROTEIN 1 Asterisk 605853 CYTOPLASMIC LINKER-ASSOCIATED PROTEIN 2; CLASP2 CLIP-ASSOCIATED PROTEIN 2 Asterisk 605854 BCL2-BINDING COMPONENT 3; BBC3 p53-UPREGULATED MODULATOR OF APOPTOSIS; PUMA Asterisk 605855 ATPase, CLASS V, TYPE 10A; ATP10A ATPase, CLASS V, TYPE 10C; ATP10C;; ATPVC Percent 605856 SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA, MICROPHTHALMIA, AND ATYPICAL CLEFTING Asterisk 605857 RAS HOMOLOG GENE FAMILY, MEMBER Q; RHOQ RAS-LIKE PROTEIN TC10; TC10;; TC10-ALPHA;; ARHQ Asterisk 605858 SCRATCH, MOUSE, HOMOLOG OF; SCRT1 SCRT Asterisk 605859 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 32; ZBTB32 FANCONI ANEMIA ZINC FINGER PROTEIN; FAZF;; TESTIS ZINC FINGER PROTEIN; TZFP;; REPRESSOR OF GATA; ROG Asterisk 605860 RCAN FAMILY MEMBER 3; RCAN3 DOWN SYNDROME CRITICAL REGION GENE 1-LIKE 2; DSCR1L2;; MYOCYTE-ENRICHED CALCINEURIN-INTERACTING PROTEIN 3; MCIP3 Asterisk 605861 CANOPY FGF SIGNALING REGULATOR 2; CNPY2 CANOPY 2, ZEBRAFISH, HOMOLOG OF;; TRANSMEMBRANE PROTEIN 4; TMEM4;; MIR-INTERACTING SAPOSIN-LIKE PROTEIN; MSAP Asterisk 605862 RIBITOL XYLOSYLTRANSFERASE 1; RXYLT1 TRANSMEMBRANE PROTEIN 5; TMEM5 Asterisk 605863 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 3; B3GNT3 TRANSMEMBRANE PROTEIN 3; TMEM3 Asterisk 605864 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 4; B3GNT4 Asterisk 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3 T1R3 Asterisk 605866 ATPase, CLASS I, TYPE 8B, MEMBER 3; ATP8B3 ATPIK Asterisk 605867 ATPase, CLASS I, TYPE 8B, MEMBER 2; ATP8B2 ATPID Asterisk 605868 ATPase, CLASS VI, TYPE 11A; ATP11A ATPIS;; ATPIH, MOUSE, HOMOLOG OF; ATPIH Asterisk 605869 ATPase, CLASS VI, TYPE 11B; ATP11B ATPIR Asterisk 605870 ATPase, CLASS I, TYPE 8A, MEMBER 2; ATP8A2 ATPIB Caret 605871 MOVED TO 193090 Asterisk 605872 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER M; CLEC4M LIVER/LYMPH NODE-SPECIFIC ICAM3-GRABBING NONINTEGRIN; LSIGN;; CD209 ANTIGEN-LIKE; CD209L;; DCSIGN-RELATED PROTEIN; DCSIGNR Asterisk 605873 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 10; KCNK10 TWIK-RELATED K+ CHANNEL 2; TREK2 Asterisk 605874 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 9; KCNK9 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 3; TASK3 Asterisk 605875 WASP PROTEIN FAMILY, MEMBER 2; WASF2 WASP FAMILY, MEMBER 2;; WASP FAMILY, VERPROLIN HOMOLOGY DOMAIN-CONTAINING PROTEIN 2; WAVE2;; SCAR, DICTYOSTELIUM, HOMOLOG OF, 2; SCAR2 Asterisk 605876 Fc RECEPTOR-LIKE PROTEIN 4; FCRL4 IMMUNOGLOBULIN SUPERFAMILY RECEPTOR TRANSLOCATION-ASSOCIATED GENE 1; IRTA1 Asterisk 605877 Fc RECEPTOR-LIKE PROTEIN 5; FCRL5 IMMUNOGLOBULIN SUPERFAMILY RECEPTOR TRANSLOCATION-ASSOCIATED GENE 2; IRTA2;; BXMAS1 Asterisk 605878 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7A; ZBTB7A ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7; ZBTB7;; HIV-1 INDUCER OF SHORT TRANSCRIPTS-BINDING FACTOR 1;; HIV-1 IST-BINDING FACTOR 1; FBI1;; LEUKEMIA/LYMPHOMA-RELATED FACTOR; LRF;; POKEMON Asterisk 605879 POTASSIUM CHANNEL, CALCIUM-ACTIVATED, INTERMEDIATE/SMALL CONDUCTANCE, SUBFAMILY N, MEMBER 2; KCNN2 SK2 Asterisk 605880 LYSINE ACETYLTRANSFERASE 6B; KAT6B HISTONE ACETYLTRANSFERASE MYST4; MYST4;; MONOCYTIC LEUKEMIA ZINC FINGER PROTEIN-RELATED FACTOR; MORF MORF/CBF FUSION GENE, INCLUDED Asterisk 605881 SOLUTE CARRIER FAMILY 35, MEMBER C1; SLC35C1 GDP-FUCOSE TRANSPORTER 1 Asterisk 605882 BRCA1-INTERACTING PROTEIN 1; BRIP1 BRCA1-ASSOCIATED C-TERMINAL HELICASE 1; BACH1;; DELETIONS OF GUANINE-RICH DNA, C. ELEGANS, HOMOLOG OF;; DOG1, HOMOLOG OF;; FANCJ GENE; FANCJ Asterisk 605883 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 3; LAMP3 LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEIN, DENDRITIC CELL-SPECIFIC; DCLAMP Asterisk 605884 DYNEIN, AXONEMAL, HEAVY CHAIN 10; DNAH10 Asterisk 605885 SEMAPHORIN 6A; SEMA6A Asterisk 605886 COMPLEMENT COMPONENT RECEPTOR 1-LIKE; CR1L COMPLEMENT COMPONENT 3b/4b RECEPTOR-LIKE Caret 605887 MOVED TO 300357 Asterisk 605888 EH DOMAIN-CONTAINING 1; EHD1 Asterisk 605889 PDZ AND LIM DOMAIN PROTEIN 3; PDLIM3 ACTININ-ASSOCIATED LIM PROTEIN; ALP Asterisk 605890 EH DOMAIN-CONTAINING 2; EHD2 Asterisk 605891 EH DOMAIN-CONTAINING 3; EHD3 Asterisk 605892 EH DOMAIN-CONTAINING 4; EHD4 Asterisk 605893 CDP-DIACYLGLYCEROL-INOSITOL 3-PHOSPHATIDYLTRANSFERASE; CDIPT PHOSPHATIDYLINOSITOL SYNTHASE 1; PIS1 Asterisk 605894 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 1; EID1 E1A-LIKE INHIBITOR OF DIFFERENTIATION 1;; CREBBP/EP300 INHIBITORY PROTEIN 1; CRI1;; CHROMOSOME 15 OPEN READING FRAME 3; C15ORF3 Asterisk 605895 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 2; EIF4E2 EIF4E FAMILY, MEMBER 2;; EIF4E-LIKE 3; EIF4EL3;; EIF4E HOMOLOGOUS PROTEIN; 4EHP Asterisk 605896 ENDOTHELIN-CONVERTING ENZYME-LIKE 1; ECEL1 XCE Asterisk 605897 UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 1; UGGT1 HUGT1 Asterisk 605898 UDP-GLUCOSE:GLYCOPROTEIN GLUCOSYLTRANSFERASE 2; UGGT2 HUGT2 Number Sign 605899 GLYCINE ENCEPHALOPATHY; GCE HYPERGLYCINEMIA, NONKETOTIC; NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED Asterisk 605900 PDZ AND LIM DOMAIN PROTEIN 1; PDLIM1 ELFIN;; CLP36, RAT, HOMOLOG OF; CLP36;; C-TERMINAL LIM DOMAIN PROTEIN 1; CLIM1 Asterisk 605901 UROCORTIN III; UCN3 STRESSCOPIN; SCP Asterisk 605902 UROCORTIN II; UCN2 STRESSCOPIN-RELATED PEPTIDE;; SRP;; UROCORTIN-RELATED PEPTIDE; URP Asterisk 605903 PDZ AND LIM DOMAIN PROTEIN 7; PDLIM7 LIM DOMAIN PROTEIN ENIGMA; ENIGMA;; LIM MINERALIZATION PROTEIN 1; LMP1 Asterisk 605904 PDZ AND LIM DOMAIN PROTEIN 5; PDLIM5 ENIGMA-LIKE LIM DOMAIN PROTEIN;; ENIGMA HOMOLOG; ENH Asterisk 605905 DCN1 DOMAIN-CONTAINING PROTEIN 1; DCUN1D1 RP42 HOMOLOG; RP42;; SQUAMOUS CELL CARCINOMA-RELATED ONCOGENE 1; SCCRO1 Asterisk 605906 LIM DOMAIN-BINDING 3; LDB3 Z-BAND ALTERNATIVELY SPLICED PDZ MOTIF-CONTAINING PROTEIN; ZASP;; CYPHER, MOUSE, HOMOLOG OF; CYPHER;; KIAA0613 Asterisk 605907 ALG1, YEAST, HOMOLOG OF; ALG1 ASPARAGINE-LINKED GLYCOSYLATION 1 HOMOLOG;; BETA-1,4 MANNOSYLTRANSFERASE;; HMAT1;; HMT1 Asterisk 605908 MLC1 GENE; MLC1 KIAA0027 Number Sign 605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 PARKINSON DISEASE 6, EARLY-ONSET; PARK6 PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED;; PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1, INCLUDED Asterisk 605910 ANGIOPOIETIN-LIKE 4; ANGPTL4 PPARG ANGIOPOIETIN-RELATED PROTEIN; PGAR;; FASTING-INDUCED ADIPOSE FACTOR; FIAF;; HEPATIC FIBRINOGEN/ANGIOPOIETIN-RELATED PROTEIN; HFARP Number Sign 605911 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY; HMGCS2D MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY;; HMGCS2 DEFICIENCY Asterisk 605912 MATRIX, EXTRACELLULAR, PHOSPHOGLYCOPROTEIN; MEPE EXTRACELLULAR MATRIX PHOSPHOGLYCOPROTEIN, ASARM MOTIF-CONTAINING;; OSTEOBLAST/OSTEOCYTE FACTOR 45; OF45 Percent 605913 BLEEDING DISORDER, EAST TEXAS TYPE BDET Asterisk 605914 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 12A; TNFRSF12A TYPE I TRANSMEMBRANE PROTEIN FN14; FN14;; TWEAK RECEPTOR; TWEAKR Asterisk 605915 TRANSDUCIN-BETA-LIKE 3; TBL3 Asterisk 605916 SPECTRIN, BETA, NONERYTHROCYTIC, 5; SPTBN5 SPECTRIN, BETA-V; BSPECV Asterisk 605917 TPX2, XENOPUS, HOMOLOG OF; TPX2 CHROMOSOME 20 OPEN READING FRAME 1; C20ORF1;; p100 Asterisk 605918 SPONDIN 2; SPON2 MINDIN;; M-SPONDIN Caret 605919 MOVED TO 300361 Asterisk 605920 STAUFEN, DROSOPHILA, HOMOLOG OF, 2; STAU2 Asterisk 605921 STROMAL INTERACTION MOLECULE 1; STIM1 Asterisk 605922 MYOINOSITOL MONOPHOSPHATASE 2; IMPA2 Asterisk 605923 SRY-BOX 8; SOX8 Asterisk 605924 WD REPEAT-CONTAINING PROTEIN 4; WDR4 tRNA (GUANINE-N(7)-)-METHYLTRANSFERASE NONCATALYTIC SUBUNIT WDR4;; tRNA METHYLTRANSFERASE 82 HOMOLOG; TRMT82;; TRM82 Asterisk 605925 PERICENTRIN; PCNT KENDRIN; KEN;; PERICENTRIN B;; PERICENTRIN 2, FORMERLY; PCNT2, FORMERLY Asterisk 605926 PROTEIN INTERACTING WITH C KINASE 1; PICK1 PICK;; PRKCA-BINDING PROTEIN; PRKCABP;; PROTEIN KINASE C-ALPHA-BINDING PROTEIN Asterisk 605927 MOUSE DOUBLE MINUTE 2 HOMOLOG, BINDING PROTEIN OF; MTBP MDM2-BINDING PROTEIN Asterisk 605928 ADP-RIBOSYLATION FACTOR-INTERACTING PROTEIN 1; ARFIP1 ARFAPTIN 1 Asterisk 605929 SORTING NEXIN 2; SNX2 Asterisk 605930 SORTING NEXIN 3; SNX3 Asterisk 605931 SORTING NEXIN 4; SNX4 Asterisk 605932 BETAINE-HOMOCYSTEINE METHYLTRANSFERASE 2; BHMT2 Asterisk 605933 TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 4; TM7SF4 DENDRITIC CELL-SPECIFIC TRANSMEMBRANE PROTEIN; DCSTAMP;; INTERLEUKIN 4-INDUCED GENE; FIND;; IL4-INDUCED GENE Percent 605934 HOLOPROSENCEPHALY 6; HPE6 NULL 605935 ARTHROPATHY, EROSIVE Asterisk 605936 BRIDGING INTEGRATOR 2; BIN2 Asterisk 605937 SORTING NEXIN 5; SNX5 Asterisk 605938 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS P PROTEIN; PIGP DOWN SYNDROME CRITICAL REGION GENE 5; DSCR5 Asterisk 605939 PHOSPHOLIPASE C, DELTA-4; PLCD4 Asterisk 605940 BRAIN-ABUNDANT SIGNAL PROTEIN, MEMBRANE-ATTACHED, 1; BASP1 BRAIN ACID-SOLUBLE PROTEIN 1;; NAP22, RAT, HOMOLOG OF; NAP22;; CAP23, CHICKEN, HOMOLOG OF; CAP23 Asterisk 605941 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 1; SART1 HOMS1 Asterisk 605942 DERMATAN SULFATE EPIMERASE; DSE SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 2; SART2 Asterisk 605943 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 1; GDE1 MEMBRANE INTERACTING PROTEIN OF RGS16; MIR16;; RGS16-INTERACTING MEMBRANE PROTEIN NULL 605944 LIVER FIBROCYSTIC DISEASE AND POLYDACTYLY NULL 605945 CRUMPLED HELICES AND SMALL MOUTH Percent 605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE Asterisk 605947 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS L PROTEIN; PIGL Asterisk 605948 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER B; GPRC5B RETINOIC ACID-INDUCIBLE GENE 2; RAIG2 Asterisk 605949 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER C; GPRC5C RETINOIC ACID-INDUCIBLE GENE 3; RAIG3 Asterisk 605950 RAS-ASSOCIATED PROTEIN RAB33B; RAB33B Asterisk 605951 DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 3; DPM3 DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE 3;; DOLICHOL-PHOSPHATE-MANNOSE SYNTHASE 3 Asterisk 605952 SORTING NEXIN 9; SNX9 SH3 DOMAIN- AND PX DOMAIN-CONTAINING PROTEIN; SH3PX1 Asterisk 605953 ARF GTPase-ACTIVATING PROTEIN WITH SH3 DOMAIN, ANKYRIN REPEAT, AND PH DOMAIN 1; ASAP1 ADP-RIBOSYLATION FACTOR-DIRECTED GTPase-ACTIVATING PROTEIN;; ARF GTPase-ACTIVATING PROTEIN 1;; DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR 1; DDEF1 Asterisk 605954 FETUIN B; FETUB Asterisk 605955 NK6, DROSOPHILA, HOMOLOG OF, 2; NKX6-2 HOMEOBOX 6B, NK;; NKX6B;; NK HOMEOBOX, FAMILY 6, MEMBER B;; NKX6.2, MOUSE, HOMOLOG OF Asterisk 605956 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 15; CARD15 Caret 605957 MOVED TO 600965 Asterisk 605958 TRAF-INTERACTING PROTEIN; TRAIP TRIP;; RING FINGER PROTEIN 206; RNF206 Asterisk 605959 HR44 ANTIGEN HR44 Asterisk 605960 EXOSOME COMPONENT 10; EXOSC10 POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 2; PMSCL2;; POLYMYOSITIS/SCLERODERMA AUTOANTIGEN, 100-KD;; PMSCL AUTOANTIGEN, 100-KD Asterisk 605961 PLEIOTROPIC REGULATOR 1; PLRG1 PRL1, ARABIDOPSIS, HOMOLOG OF; PRL1 Asterisk 605962 RAB9 EFFECTOR PROTEIN WITH KELCH MOTIFS; RABEPK RAB9 EFFECTOR, 40-KD; p40 Asterisk 605963 SORTING NEXIN 17; SNX17 Asterisk 605964 SORTING NEXIN 15; SNX15 Asterisk 605965 RAS AND RAB INTERACTOR 1; RIN1 RAS INHIBITOR 1 Asterisk 605966 HEPATOCYTE NUCLEAR FACTOR 4-GAMMA; HNF4G HNF4-GAMMA Percent 605967 ACROPECTORAL SYNDROME; ACRPS ACRP SYNDROME;; DUNDAR ACROPECTORAL SYNDROME;; SYNDACTYLY, PREAXIAL POLYDACTYLY, AND STERNAL DEFORMITY Asterisk 605968 RET FINGER PROTEIN-LIKE 1; RFPL1 RFP-LIKE 1 Asterisk 605969 RET FINGER PROTEIN-LIKE 2; RFPL2 RFP-LIKE 2 Asterisk 605970 RET FINGER PROTEIN-LIKE 3; RFPL3 RFP-LIKE 3 Asterisk 605971 RET FINGER PROTEIN-LIKE 3, ANTISENSE; RFPL3S RFP-LIKE 3, ANTISENSE Asterisk 605972 RET FINGER PROTEIN-LIKE 1, ANTISENSE; RFPL1S RFP-LIKE 1, ANTISENSE Asterisk 605973 DDB1- AND CUL4-ASSOCIATED FACTOR 7; DCAF7 AN11, PETUNIA, HOMOLOG OF; AN11 Asterisk 605974 SLU7 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; SLU7 Asterisk 605975 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 1; SRRM1 SERINE/ARGININE-RICH SPLICING FACTOR-RELATED NUCLEAR MATRIX PROTEIN, 160-KD;; SR-RELATED NUCLEAR MATRIX PROTEIN, 160-KD; SRM160 Asterisk 605976 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 6; ZBTB6 ZINC FINGER PROTEIN WITH INTERACTION DOMAIN; ZID Asterisk 605977 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 2, S. CEREVISIAE, HOMOLOG OF; IMMP2L IMP2, S. CEREVISIAE, HOMOLOG OF; IMP2;; IMP2-LIKE Asterisk 605978 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A; VPS13A CHAC GENE; CHAC;; CHOREIN;; KIAA0986 Asterisk 605979 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, POLYPEPTIDE 5; SNAPC5 SMALL NUCLEAR RNA-ACTIVATING PROTEIN COMPLEX, 19-KD SUBUNIT; SNAP19 Asterisk 605980 NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 1; NOD1 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 4; CARD4 Asterisk 605981 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1; UBR1 Caret 605982 MOVED TO 194070 Asterisk 605983 PROTEIN PHOSPHATASE 2, STRUCTURAL/REGULATORY SUBUNIT A, ALPHA; PPP2R1A PROTEIN PHOSPHATASE 2, 65-KD REGULATORY SUBUNIT A, ALPHA;; PR65-ALPHA Asterisk 605984 EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF; EED EED, MOUSE, HOMOLOG OF;; WD PROTEIN ASSOCIATING WITH INTEGRIN CYTOPLASMIC TAILS 1; WAIT1 Caret 605985 MOVED TO 300408 Asterisk 605986 SERINE/THREONINE KINASE RECEPTOR-ASSOCIATED PROTEIN; STRAP UNR-INTERACTING PROTEIN; UNRIP;; MITOGEN-ACTIVATED PROTEIN KINASE ACTIVATOR WITH WD REPEATS; MAWD;; MAPK ACTIVATOR WITH WD REPEATS Asterisk 605987 PROTEIN INHIBITOR OF ACTIVATED STAT3; PIAS3 Asterisk 605988 DNA CROSS-LINK REPAIR PROTEIN 1C; DCLRE1C ARTEMIS Asterisk 605989 PROTEIN INHIBITOR OF ACTIVATED STAT4; PIAS4 PROTEIN INHIBITOR OF ACTIVATED STAT Y; PIASY Number Sign 605990 NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO UAN;; UROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO Asterisk 605991 NEURONAL GUANINE NUCLEOTIDE EXCHANGE FACTOR; NGEF GUANINE NUCLEOTIDE EXCHANGE FACTOR, NEURONAL;; EPH RECEPTOR-INTERACTING EXCHANGE PROTEIN;; EPHEXIN;; EPHEXIN 1 Asterisk 605992 LIM HOMEOBOX PROTEIN 5; LHX5 Asterisk 605993 PYRUVATE DEHYDROGENASE PHOSPHATASE CATALYTIC SUBUNIT 1; PDP1 PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 2C; PPM2C;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 2, CATALYTIC SUBUNIT;; PYRUVATE DEHYDROGENASE PHOSPHATASE; PDP1;; PYRUVATE DEHYDROGENASE PHOSPHATASE, CATALYTIC SUBUNIT; PDPC Asterisk 605994 CYTOCHROME P450, FAMILY 39, SUBFAMILY A, POLYPEPTIDE 1; CYP39A1 OXYSTEROL 7-ALPHA-HYDROXYLASE 2 Asterisk 605995 KINESIN FAMILY MEMBER 1B; KIF1B KIAA0591 Asterisk 605996 DOM3, C. ELEGANS, HOMOLOG OF, Z; DOM3Z RAT1-INTERACTING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; RAI1 Asterisk 605997 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, GAMMA ISOFORM; PPP2R2C PROTEIN PHOSPHATASE 2A, REGULATORY SUBUNIT B, GAMMA ISOFORM;; PR52;; B55-GAMMA Asterisk 605998 HCLS1-ASSOCIATED PROTEIN X1; HAX1 Asterisk 605999 C-TYPE LECTIN DOMAIN FAMILY 10, MEMBER A; CLEC10A LECTIN, C-TYPE, SUPERFAMILY MEMBER 14; CLECSF14;; MACROPHAGE GALACTOSE-TYPE C-TYPE LECTIN; MGL;; HML;; CD301 Asterisk 606000 BUTYROPHILIN-LIKE PROTEIN 2; BTNL2 BUTYROPHILIN-LIKE PROTEIN, MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II-ASSOCIATED;; BTL II Asterisk 606001 INTERLEUKIN 32; IL32 NATURAL KILLER CELL TRANSCRIPT 4; NK4 Number Sign 606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2; SCAN2 ATAXIA-OCULOMOTOR APRAXIA 2; AOA2;; ATAXIA-OCULAR APRAXIA 2;; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, FORMERLY; SCAR1, FORMERLY Number Sign 606003 TRANSALDOLASE DEFICIENCY EYAID SYNDROME;; TALDO DEFICIENCY Asterisk 606004 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 1; GGA1 ADP-RIBOSYLATION FACTOR-BINDING PROTEIN 1;; ARF-BINDING PROTEIN 1 Asterisk 606005 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 2; GGA2 VHS DOMAIN- AND EAR DOMAIN-CONTAINING PROTEIN; VEAR;; ADP-RIBOSYLATION FACTOR-BINDING PROTEIN 2;; ARF-BINDING PROTEIN 2 Asterisk 606006 GOLGI-ASSOCIATED, GAMMA-ADAPTIN EAR-CONTAINING, ARF-BINDING PROTEIN 3; GGA3 ADP-RIBOSYLATION FACTOR-BINDING PROTEIN 3;; ARF-BINDING PROTEIN 3;; KIAA0154 Asterisk 606007 POLYMERASE III, RNA, SUBUNIT K; POLR3K RNA POLYMERASE III, 12.3-KD SUBUNIT;; RPC11, S. CEREVISIAE, HOMOLOG OF; RPC11; C11 Asterisk 606008 NATURAL KILLER CELL GROUP 7 SEQUENCE; NKG7 GCSF-INDUCED GENE 1; GIG1 Asterisk 606009 DOUBLE HOMEOBOX PROTEIN 4; DUX4 D4Z4 MACROSATELLITE REPEAT, INCLUDED Asterisk 606010 NUCLEAR RECEPTOR-BINDING PROTEIN 1; NRBP1 Asterisk 606011 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 2; VSIG2 CTX, XENOPUS, HOMOLOG-LIKE; CTXL;; CTH Percent 606012 DEAFNESS, AUTOSOMAL DOMINANT 18; DFNA18 Asterisk 606013 F-BOX ONLY PROTEIN 5; FBXO5 FBX5;; EMI1, XENOPUS, HOMOLOG OF; EMI1 Asterisk 606014 ARISTALESS-LIKE HOMEOBOX 3; ALX3 Asterisk 606015 FAS APOPTOTIC INHIBITORY MOLECULE 3; FAIM3 TOSO;; Fc FRAGMENT OF IgM, RECEPTOR FOR; FCMR Asterisk 606016 KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; KEAP1 Asterisk 606017 POLYMERASE II, RNA, SUBUNIT D; POLR2D RPB4, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 16.3-KD SUBUNIT Asterisk 606018 EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN 3; EDIL3 DEVELOPMENTALLY REGULATED ENDOTHELIAL CELL LOCUS 1; DEL1 Asterisk 606019 EXOSOME COMPONENT 8; EXOSC8 OPA-INTERACTING PROTEIN 2; OIP2;; RIBOSOMAL RNA-PROCESSING PROTEIN 43, S. CEREVISIAE, HOMOLOG OF; RRP43 Asterisk 606020 OPA-INTERACTING PROTEIN 5; OIP5 MIS18 KINETOCHORE PROTEIN B: MIS18B;; MIS18, S. POMBE, HOMOLOG OF, B;; MIS18-BETA Asterisk 606021 PREFERENTIALLY EXPRESSED ANTIGEN IN MELANOMA; PRAME MAPE;; OPA-INTERACTING PROTEIN 4; OIP4 Asterisk 606022 NUDIX HYDROLASE 9; NUDT9 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 9;; NUDIX MOTIF 9 Asterisk 606023 POLYMERASE II, RNA, SUBUNIT H; POLR2H RPB8, S. CEREVISIAE, HOMOLOG OF;; RNA POLYMERASE II, 17-KD SUBUNIT Caret 606024 MOVED TO 604753 Asterisk 606025 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 20; ZBTB20 ZINC FINGER PROTEIN 288; ZNF288;; DENDRITIC-DERIVED BTB/POZ ZINC FINGER; DPZF;; HOF Asterisk 606026 WHS CANDIDATE 2 GENE; WHSC2 WOLF-HIRSCHHORN SYNDROME CANDIDATE 2;; NEGATIVE ELONGATION FACTOR POLYPEPTIDE A; NELFA Asterisk 606027 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 1; CPSF1 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 160-KD SUBUNIT; CPSF160 Asterisk 606028 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 2; CPSF2 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 100-KD SUBUNIT; CPSF100 Asterisk 606029 CLEAVAGE AND POLYADENYLATION SPECIFICITY FACTOR 3; CPSF3 CLEAVAGE-POLYADENYLATION SPECIFICITY FACTOR, 73-KD SUBUNIT; CPSF73 Asterisk 606030 ENHANCER OF mRNA DECAPPING 4; EDC4 AUTOANTIGEN RCD8; RCD8;; GE1;; HUMAN ENHANCER OF DECAPPING, LARGE SUBUNIT; HEDLS Asterisk 606031 WD REPEAT-CONTAINING PROTEIN 6; WDR6 Asterisk 606032 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 2; SRRM2 SERINE/ARGININE-RICH SPLICING FACTOR-RELATED NUCLEAR MATRIX PROTEIN, 300-KD;; SR-RELATED NUCLEAR MATRIX PROTEIN, 300-KD; SRM300;; SRL300 Asterisk 606033 POLYMERASE II, RNA, SUBUNIT K; POLR2K RPB10-ALPHA, S. CEREVISIAE, HOMOLOG OF; RPB12;; RNA POLYMERASE II, 7-KD SUBUNIT Asterisk 606034 RIBONUCLEASE H2, SUBUNIT A; RNASEH2A RIBONUCLEASE H2, LARGE SUBUNIT;; RIBONUCLEASE HI, LARGE SUBUNIT;; RNase HI, LARGE SUBUNIT Percent 606035 FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1; FIQTL1 Asterisk 606036 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR 2; ARNT2 Asterisk 606037 CD96 ANTIGEN; CD96 T-CELL ACTIVATION ANTIGEN, INCREASED LATE EXPRESSION; TACTILE Asterisk 606038 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6D; LY6G6D G6D;; MEGAKARYOCYTE-ENHANCED GENE TRANSCRIPT 1; MEGT1 Asterisk 606039 HYDROXYCARBOXYLIC ACID RECEPTOR 3; HCAR3 HCA3;; G PROTEIN-COUPLED RECEPTOR 109B; GPR109B;; CHEMOKINE RECEPTOR HM74; HM74 Asterisk 606040 WD REPEAT-CONTAINING PROTEIN 8; WDR8 Asterisk 606041 SPARC-LIKE PROTEIN 1; SPARCL1 HIGH ENDOTHELIAL VENULE PROTEIN; HEVIN Asterisk 606042 MYONEURIN; MYNN Asterisk 606043 ZINC FINGER PROTEIN 331; ZNF331 ZINC FINGER PROTEIN 463; ZNF463;; REARRANGED IN THYROID ADENOMAS; RITA Asterisk 606044 SJOGREN SYNDROME/SCLERODERMA AUTOANTIGEN 1; SSSCA1 CENTROMERIC AUTOANTIGEN, 27-KD Asterisk 606045 INTRAFLAGELLAR TRANSPORT 122, CHLAMYDOMONAS, HOMOLOG OF; IFT122 WD REPEAT-CONTAINING PROTEIN 10; WDR10 Asterisk 606046 SYNTAXIN 18; STX18 Asterisk 606047 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 5; LILRA5 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR 9; LIR9;; IMMUNOGLOBULIN-LIKE TRANSCRIPT 11; ILT11;; CD85F Asterisk 606048 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 7; MBOAT7 LYSOPHOSPHATIDYLINOSITOL ACYLTRANSFERASE; LPIAT;; MEMBRANE-BOUND O-ACETYLTRANSFERASE 7;; LEUKOCYTE RECEPTOR CLUSTER GENE 4; LENG4;; BREAST AND BLADDER CANCER OVEREXPRESSED GENE 1; BB1 Percent 606049 ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA AOCH Asterisk 606050 UBIQUITIN D; UBD DIUBIQUITIN;; FAT10 Asterisk 606051 SECRETION-REGULATING GUANINE NUCLEOTIDE EXCHANGE FACTOR; SERGEF DEAFNESS LOCUS-ASSOCIATED PUTATIVE GUANINE NUCLEOTIDE EXCHANGE FACTOR; DELGEF Caret 606052 MOVED TO 607745 Number Sign 606053 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY; IDDAS PHRASE SPEECH DELAY, AUTISM-RELATED;; AUTISM-RELATED SPEECH DELAY;; AUTISM, SUSCEPTIBILITY TO, 5, FORMERLY; AUTS5, FORMERLY Number Sign 606054 PROPIONIC ACIDEMIA PROPIONYL-CoA CARBOXYLASE DEFICIENCY;; PCC DEFICIENCY;; GLYCINEMIA, KETOTIC;; HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA;; KETOTIC HYPERGLYCINEMIA Asterisk 606055 PHOSPHATIDYLCHOLINE TRANSFER PROTEIN; PCTP START DOMAIN-CONTAINING PROTEIN 2; STARD2 Number Sign 606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B CDG IIb; CDGIIb;; GLUCOSIDASE I DEFICIENCY Asterisk 606057 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; RAPGEF3 cAMP-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR I;; cAMP-GEFI;; EXCHANGE PROTEIN ACTIVATED BY cAMP; EPAC;; EPAC1 Asterisk 606058 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAPGEF4 cAMP-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR II;; cAMP-GEFII;; EPAC2 Asterisk 606059 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR ALPHA; PKIA Asterisk 606060 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 12; DNAJC12 J DOMAIN-CONTAINING PROTEIN 1; JDP1 Asterisk 606061 T-BOX 20; TBX20 Asterisk 606062 STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; SMC3 CHONDROITIN SULFATE PROTEOGLYCAN 6; CSPG6;; BAMACAN; BAM;; HUMAN CHROMOSOME-ASSOCIATED POLYPEPTIDE; HCAP Asterisk 606063 EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; EXO1 HEX1 Asterisk 606064 CD248 ANTIGEN; CD248 TUMOR ENDOTHELIAL MARKER 1; TEM1;; ENDOSIALIN Asterisk 606065 ATYPICAL CHEMOKINE RECEPTOR 4; ACKR4 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 1; CCRL1;; PPR1, BOVINE, HOMOLOG OF; PPR1 Asterisk 606066 LIM HOMEOBOX GENE 9; LHX9 Asterisk 606067 OTORAPLIN; OTOR Number Sign 606068 RETINITIS PIGMENTOSA 28; RP28 Number Sign 606069 HEMOCHROMATOSIS, TYPE 4; HFE4 HEMOCHROMATOSIS, AUTOSOMAL DOMINANT;; HEMOCHROMATOSIS DUE TO DEFECT IN FERROPORTIN Number Sign 606070 AMYOTROPHIC LATERAL SCLEROSIS 21; ALS21 MYOPATHY, DISTAL, 2, FORMERLY; MPD2, FORMERLY;; VOCAL CORD AND PHARYNGEAL DYSFUNCTION WITH DISTAL MYOPATHY, FORMERLY; VCPDM, FORMERLY Number Sign 606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C HMSN IIC;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; CMT2C;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2C Number Sign 606072 RIPPLING MUSCLE DISEASE 2; RMD2 RIPPLING MUSCLE DISEASE; RMD;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, FORMERLY; LGMD1C, FORMERLY Asterisk 606073 NADPH-DEPENDENT DIFLAVIN OXIDOREDUCTASE 1; NDOR1 NADPH-DEPENDENT FMN- AND FAD-CONTAINING OXIDOREDUCTASE;; NR1 Asterisk 606074 GLOBOSIDE ALPHA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE; GBGT1 FORSSMAN SYNTHETASE; FS Asterisk 606075 TWINKLE mtDNA HELICASE; TWNK CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2;; T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION; TWINKLE;; p72 TWINKY, INCLUDED Asterisk 606076 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 3; PIK3R3 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT, 55-KD, GAMMA;; p55-GAMMA Asterisk 606077 RNA-BINDING MOTIF PROTEIN 15; RBM15 OTT;; ONE-TWENTY TWO PROTEIN 1; OTT1 RBM15/MKL1 FUSION GENE, INCLUDED Asterisk 606078 MEGAKARYOBLASTIC LEUKEMIA 1 GENE; MKL1 MAL;; MYOCARDIN-RELATED PROTEIN;; MRTFA MKL1/RBM15 FUSION GENE, INCLUDED Asterisk 606079 CD163 ANTIGEN-LIKE 1; CD163L1 CD163 ANTIGEN B; CD163B;; SCAVENGER RECEPTOR M160; M160 Asterisk 606080 CHITINASE, ACIDIC; CHIA ACIDIC MAMMALIAN CHITINASE; AMCase Asterisk 606081 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 70, YEAST, HOMOLOG OF, A; TOMM70A Percent 606082 GOITER, MULTINODULAR 3; MNG3 Asterisk 606083 POLYBROMO 1, CHICKEN, HOMOLOG OF; PBRM1 PB1;; BRG1-ASSOCIATED FACTOR, 180-KD; BAF180 Asterisk 606084 CDC42 EFFECTOR PROTEIN 1; CDC42EP1 CEP1;; BONE MARROW STROMAL/ENDOTHELIAL CELL PROTEIN, 55-KD; MSE55 Asterisk 606085 TESTIS-DERIVED TRANSCRIPT; TES TESTIN Asterisk 606086 EUKARYOTIC TRANSLATION INITIATION FACTOR 5B; EIF5B TRANSLATION INITIATION FACTOR IF2; IF2 Asterisk 606087 SYNEMIN; SYNM DESMUSLIN; DMN Asterisk 606088 PHOSPHOLIPASE A2, GROUP IVB; PLA2G4B PHOSPHOLIPASE A2, CYTOSOLIC, CALCIUM-DEPENDENT, BETA;; CPLA2-BETA Asterisk 606089 BRAIN CYTOPLASMIC RNA 1; BCYRN1 BC200 RNA; BC200;; BC200-ALPHA Asterisk 606090 CARNITINE OCTANOYLTRANSFERASE; CROT COT Asterisk 606091 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 10; SIGLEC10 Asterisk 606092 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 14; DNAJC14 DOPAMINE RECEPTOR-INTERACTING PROTEIN, 78-KD; DRIP78;; HEAT-SHOCK PROTEIN, DNAJ-LIKE 3; HDJ3 Asterisk 606093 PEPTIDYL-PROLYL ISOMERASE G; PPIG CYCLOPHILIN G Asterisk 606094 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 12; SIGLEC12 SIGLEC-LIKE PROTEIN 1; SIGLECL1;; SIGLEC-LIKE GENE; SLG;; S2V Asterisk 606095 PEPTIDYL-PROLYL ISOMERASE H; PPIH CYCLOPHILIN H Asterisk 606096 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 12 LGALS12;; GALECTIN 12 Asterisk 606097 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS N PROTEIN; PIGN Asterisk 606098 SORTING NEXIN 6; SNX6 Asterisk 606099 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 8; LGALS8 GALECTIN 8;; PROSTATE CARCINOMA TUMOR ANTIGEN 1; PCTA1 Asterisk 606100 ADHESION G PROTEIN-COUPLED RECEPTOR E2; ADGRE2 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 2; EMR2 Asterisk 606101 ADHESION G PROTEIN-COUPLED RECEPTOR E3; ADGRE3 EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 3; EMR3 Asterisk 606102 PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE I, GAMMA; PIP5K1C PIP5K1-GAMMA Asterisk 606103 SESTRIN 1; SESN1 SEST1;; p53-ACTIVATED GENE 26;; PA26 Caret 606104 MOVED TO 124000 Asterisk 606105 SOLUTE CARRIER FAMILY 44, MEMBER 1; SLC44A1 CHOLINE TRANSPORTER-LIKE PROTEIN 1; CTL1;; CDW92 Asterisk 606106 SOLUTE CARRIER FAMILY 44, MEMBER 2; SLC44A2 CHOLINE TRANSPORTER-LIKE PROTEIN 2; CTL2 Asterisk 606107 SOLUTE CARRIER FAMILY 44, MEMBER 4; SLC44A4 CHOLINE TRANSPORTER-LIKE PROTEIN 4; CTL4;; THIAMINE PYROPHOSPHATE TRANSPORTER; TPPT;; TPP TRANSPORTER;; CHROMOSOME 6 OPEN READING FRAME 29; C6ORF29 Asterisk 606108 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1A; PPM1A PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1A;; PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1, ALPHA ISOFORM;; PROTEIN PHOSPHATASE 2C, ALPHA ISOFORM; PP2CA;; PP2C-ALPHA Asterisk 606109 NUDC DOMAIN-CONTAINING PROTEIN 1; NUDCD1 IMMUNOGENIC TUMOR ANTIGEN CML66; CML66 Asterisk 606110 LY6/NEUROTOXIN 1; LYNX1 SECRETED LY6/PLAUR DOMAIN-CONTAINING PROTEIN 2; SLURP2;; SECRETED LY6/UPAR-RELATED PROTEIN 2 Asterisk 606111 MELANIN-CONCENTRATING HORMONE RECEPTOR 2; MCHR2 MCH2R;; MCH2;; SLT Asterisk 606112 RIBONUCLEASE P, 14-KD SUBUNIT; RPP14 Asterisk 606113 PROCESSING OF PRECURSOR 7, S. CEREVISIAE, HOMOLOG OF; POP7 RIBONUCLEASE P, 20-KD SUBUNIT; RPP20 Asterisk 606114 PROCESSING OF PRECURSOR 4, S. CEREVISIAE, HOMOLOG OF; POP4 RIBONUCLEASE P/MRP SUBUNIT, 29-KD SUBUNIT; RPP29;; RIBONUCLEASE P, 29-KD SUBUNIT Asterisk 606115 RIBONUCLEASE P/MRP, 30-KD SUBUNIT; RPP30 RIBONUCLEASE P, 30-KD SUBUNIT Asterisk 606116 RIBONUCLEASE P/MRP, 38-KD SUBUNIT; RPP38 RIBONUCLEASE P, 38-KD SUBUNIT Asterisk 606117 RIBONUCLEASE P, 40-KD SUBUNIT; RPP40 Asterisk 606118 HPS3 GENE; HPS3 COCOA, MOUSE, HOMOLOG OF Asterisk 606119 SECRETED LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; SLURP1 SECRETED LY6/UPAR-RELATED PROTEIN 1;; ARS COMPONENT B;; ARS COMPONENT B-81/S PRECURSOR Caret 606120 MOVED TO 561010 Asterisk 606121 CALCITONIN GENE-RELATED PEPTIDE RECEPTOR COMPONENT PROTEIN CGRP RECEPTOR COMPONENT PROTEIN; CGRPRCP; RCP;; CGRPR COMPONENT PROTEIN Asterisk 606122 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 19; TNFRSF19 TOXICITY AND JNK INDUCER; TAJ;; TROY Asterisk 606123 RING FINGER PROTEIN 16; RNF16 TESTIS RING FINGER PROTEIN; TERF Asterisk 606124 RING FINGER PROTEIN 18; RNF18 Asterisk 606125 TRIPARTITE MOTIF-CONTAINING PROTEIN 8; TRIM8 RING FINGER PROTEIN 27; RNF27;; GLIOBLASTOMA-EXPRESSED RING FINGER PROTEIN; GERP Asterisk 606126 APOPTOSIS REGULATOR BCLG BCLG Asterisk 606127 MYOCARDIN; MYOCD MYCD Caret 606128 MOVED TO 606078 Percent 606129 DIAMOND-BLACKFAN ANEMIA 2; DBA2 Asterisk 606130 RING FINGER PROTEIN 26; RNF26 Asterisk 606131 TRIPARTITE MOTIF-CONTAINING PROTEIN 63; TRIM63 E3 UBIQUITIN PROTEIN LIGASE TRIM63;; RING FINGER PROTEIN 28; RNF28;; STRIATED MUSCLE RING ZINC FINGER PROTEIN; SMRZ;; MUSCLE-SPECIFIC RING FINGER PROTEIN 1; MURF1 Asterisk 606132 CDC42 EFFECTOR PROTEIN 2; CDC42EP2 CEP2;; BINDER OF RHO GTPases 1; BORG1 Asterisk 606133 CDC42 EFFECTOR PROTEIN 3; CDC42EP3 CEP3;; BINDER OF RHO GTPases 2; BORG2 Asterisk 606134 REV1, S. CEREVISIAE, HOMOLOG OF; REV1L REV1;; ALPHA-INTEGRIN-BINDING PROTEIN 80 Asterisk 606135 KALLIKREIN-RELATED PEPTIDASE 14; KLK14 KALLIKREIN 14 Asterisk 606136 RAS PROTEIN ACTIVATOR-LIKE 2; RASAL2 NGAP Asterisk 606137 CELL GROWTH REGULATOR WITH EF-HAND DOMAIN 1; CGREF1 CELL GROWTH REGULATORY GENE 11; CGR11 Asterisk 606138 CELL GROWTH REGULATOR WITH RING FINGER DOMAIN 1; CGRRF1 CELL GROWTH REGULATORY GENE 19; CGR19 Asterisk 606139 KRUPPEL-LIKE FACTOR 16; KLF16 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 4; BTEB4;; DOPAMINE RECEPTOR-REGULATING FACTOR; DRRF Asterisk 606140 EXPORTIN 7; XPO7 RAN-BINDING PROTEIN 16; RANBP16 Asterisk 606141 RAN-BINDING PROTEIN 17; RANBP17 Asterisk 606142 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 9; SLC2A9 GLUCOSE TRANSPORTER 9; GLUT9 Asterisk 606143 FRIZZLED, DROSOPHILA, HOMOLOG OF, 3; FZD3 Asterisk 606144 RAS-ASSOCIATED PROTEIN RAB23; RAB23 Asterisk 606145 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 10; SLC2A10 GLUCOSE TRANSPORTER 10; GLUT10 Asterisk 606146 FRIZZLED, DROSOPHILA, HOMOLOG OF, 8; FZD8 Asterisk 606147 FRIZZLED, DROSOPHILA, HOMOLOG OF, 10; FZD10 Asterisk 606148 FATTY ACID DESATURASE 1; FADS1 Asterisk 606149 FATTY ACID DESATURASE 2; FADS2 Asterisk 606150 FATTY ACID DESATURASE 3; FADS3 Asterisk 606151 BBS2 GENE; BBS2 Asterisk 606152 SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 3; SLC19A3 THIAMINE TRANSPORTER 2; THTR2 Asterisk 606153 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F1 COMPLEX, EPSILON SUBUNIT; ATP5F1E ATP5E Asterisk 606154 MUCIN 16; MUC16 OVARIAN CARCINOMA ANTIGEN CA125 Caret 606155 MOVED TO 243310 NULL 606156 SENER SYNDROME FRONTONASAL DYSPLASIA AND DILATED VIRCHOW-ROBIN SPACES Asterisk 606157 PANTOTHENATE KINASE 2; PANK2 Asterisk 606158 BSCL2 GENE; BSCL2 SEIPIN;; GNG3LG, MOUSE, HOMOLOG OF Number Sign 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; NBIA3 NEUROFERRITINOPATHY;; BASAL GANGLIA DISEASE, ADULT-ONSET Asterisk 606160 PANTOTHENATE KINASE 1; PANK1 Asterisk 606161 PANTOTHENATE KINASE 3; PANK3 Asterisk 606162 PANTOTHENATE KINASE 4; PANK4 Caret 606163 MOVED TO 300829 Number Sign 606164 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15 Asterisk 606165 BOL-LIKE; BOLL BOULE, DROSOPHILA, HOMOLOG OF; BOULE Caret 606166 MOVED TO 603100 Asterisk 606167 G PROTEIN-COUPLED RECEPTOR 132; GPR132 G2 ACCUMULATION PROTEIN; G2A Asterisk 606168 DEAD/H BOX 20; DDX20 DP103;; GEMIN3 Caret 606169 MOVED TO 277410 Number Sign 606170 GENITOPATELLAR SYNDROME; GTPTS ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION Asterisk 606171 TRANSFER RNA SERINE 1; TRNAS1 tRNA SERINE 1; TRS1 Asterisk 606172 TRANSFER RNA SERINE (TGA) 4-1; TRS-TGA4-1 TRANSFER RNA SERINE 3; TRNAS3;; tRNA SERINE 3; TRS3 Asterisk 606173 GrpE, E. COLI, HOMOLOG OF, 1; GRPEL1 GrpE-LIKE 1;; HUMAN MITOCHONDRIAL GrpE PROTEIN; HMGE NULL 606174 BACULUM, CONGENITAL ABSENCE OF OS PENIS, CONGENITAL ABSENCE OF NULL 606175 CARNITINE ACETYLTRANSFERASE DEFICIENCY Number Sign 606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM DIABETES MELLITUS, PERMANENT, OF INFANCY; PDMI DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;; DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES, INCLUDED; DEND, INCLUDED NULL 606177 PARS PLANITIS Asterisk 606178 HEDGEHOG-INTERACTING PROTEIN; HHIP HIP NULL 606179 ANEURYSMAL BONE CYSTS Asterisk 606180 EXOSOME COMPONENT 9; EXOSC9 POLYMYOSITIS/SCLERODERMA AUTOANTIGEN 1; PMSCL1;; POLYMYOSITIS/SCLERODERMA AUTOANTIGEN, 75-KD;; PMSCL AUTOANTIGEN, 75-KD Asterisk 606181 DEAD/H BOX 24; DDX24 Asterisk 606182 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 9; TNFSF9 4-1BB-L, MOUSE, HOMOLOG OF;; CD137 LIGAND; CD137L NULL 606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY Asterisk 606184 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 12; ADAMTS12 Asterisk 606185 TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 1; TP53INP1 p53-DEPENDENT DAMAGE-INDUCIBLE NUCLEAR PROTEIN 1; P53DINP1 Asterisk 606186 CALCYCLIN-BINDING PROTEIN; CACYBP SIAH1-INTERACTING PROTEIN; SIP Percent 606187 ALZHEIMER DISEASE 7 ALZHEIMER DISEASE, FAMILIAL, 7;; AD7 Asterisk 606188 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 28; ADAM28 METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN, LYMPHOCYTE-EXPRESSED; MDCL Asterisk 606189 CYSTEINE-RICH MOTOR NEURON PROTEIN 1; CRIM1 NULL 606190 MENINGIOMA, RADIATION-INDUCED MNRI Asterisk 606191 FORMIN-BINDING PROTEIN 1; FNBP1 FORMIN-BINDING PROTEIN 17; FBP17 FBP17/MLL FUSION GENE, INCLUDED Asterisk 606192 BUTYROPHILIN-LIKE PROTEIN 3; BTNL3 Asterisk 606193 SOLUTE CARRIER FAMILY 13 (SODIUM/SULFATE SYMPORTER), MEMBER 1; SLC13A1 SODIUM-INORGANIC SULFATE COTRANSPORTER 1; NASI1; NAS1 Asterisk 606194 KERATIN 23, TYPE I; KRT23 K23;; KA23 Asterisk 606195 IROQUOIS HOMEOBOX PROTEIN 5; IRX5 IRXB2 Asterisk 606196 IROQUOIS HOMEOBOX PROTEIN 6; IRX6 IRXB3;; IROQUOIS HOMEOBOX PROTEIN 7, FORMERLY; IRX7, FORMERLY Asterisk 606197 IROQUOIS HOMEOBOX PROTEIN 1; IRX1 IRXA1 Asterisk 606198 IROQUOIS HOMEOBOX PROTEIN 2; IRX2 IRXA2 Asterisk 606199 IROQUOIS HOMEOBOX PROTEIN 4; IRX4 IRXA3 Asterisk 606200 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E41; BHLHE41 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 3; BHLHB3 DIFFERENTIALLY EXPRESSED IN CHONDROCYTES 2; DEC2;; ENHANCER OF SPLIT- AND HAIRY-RELATED PROTEIN 1, RAT, HOMOLOG OF; SHARP1 Asterisk 606201 WOLFRAMIN ER TRANSMEMBRANE GLYCOPROTEIN; WFS1 WOLFRAMIN Asterisk 606202 SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2 MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN; MATP;; MELANOMA ANTIGEN AIM1; AIM1 Asterisk 606203 GRB2-ASSOCIATED BINDING PROTEIN 2; GAB2 KIAA0571 Asterisk 606204 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS D; LY6D E48 ANTIGEN; E48 Asterisk 606205 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, L-PROLINE), MEMBER 7; SLC6A7 L-PROLINE TRANSPORTER, BRAIN-SPECIFIC; PROT Asterisk 606206 METALLOTHIONEIN 4; MT4 METALLOTHIONEIN IV; MTIV Asterisk 606207 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC28A1 CONCENTRATIVE NUCLEOSIDE TRANSPORTER 1; CNT1 Asterisk 606208 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC28A2 CONCENTRATIVE NUCLEOSIDE TRANSPORTER 2; CNT2;; SODIUM-DEPENDENT PURINE NUCLEOSIDE TRANSPORTER 1; SPNT1 Asterisk 606209 YKT6, S. CEREVISIAE, HOMOLOG OF; YKT6 Asterisk 606210 SELENOPROTEIN N; SELENON SELN;; SEPN1 Asterisk 606211 SIRTUIN 6; SIRT6 SIR2-LIKE 6; SIR2L6 Asterisk 606212 SIRTUIN 7; SIRT7 SIR2, S.CEREVISIAE, HOMOLOG-LIKE 7; SIR2L7 Asterisk 606213 SIGNAL SEQUENCE RECEPTOR, GAMMA; SSR3 TRANSLOCON-ASSOCIATED PROTEIN, GAMMA SUBUNIT; TRAPG Asterisk 606214 SPECTRIN, BETA, NONERYTHROCYTIC, 4; SPTBN4 SPECTRIN, BETA-IV; SPNB4;; QUIVERING, MOUSE, HOMOLOG OF; QV Percent 606215 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD ATRIOVENTRICULAR CANAL DEFECT; AVCD;; AVC DEFECT;; ENDOCARDIAL CUSHION DEFECT; ECD ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1, INCLUDED; AVSD1, INCLUDED Asterisk 606216 METHIONINE SULFOXIDE REDUCTASE B1; MSRB1 SELENOPROTEIN X, 1; SEPX1;; SELX;; SELENOPROTEIN R; SELR Number Sign 606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, INCLUDED Asterisk 606218 SELENOPHOSPHATE SYNTHETASE 2; SEPHS2 SPS2 Asterisk 606219 TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; TRAP1 TNFR-ASSOCIATED PROTEIN 1 HEAT-SHOCK PROTEIN, 75-KD; HSP75;; HSP90-LIKE PROTEIN; HSP90L Number Sign 606220 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS; IDDSFAS MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS Asterisk 606221 IKAROS FAMILY ZINC FINGER 3; IKZF3 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 3; ZNFN1A3;; AIOLOS; AIO Asterisk 606222 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 6; IGSF6 DOWNREGULATED BY ACTIVATION GENE; DORA Asterisk 606223 PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2 PROTEASOME 26S, SUBUNIT 2; S2;; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 2; TRAP2;; TNFR-ASSOCIATED PROTEIN 2 Asterisk 606224 5-PRIME-NUCLEOTIDASE, CYTOSOLIC IIIA; NT5C3A NUCLEOTIDASE, 5-PRIME, CYTOSOLIC III; NT5C3;; URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE 1; UMPH1;; PYRIMIDINE 5-PRIME-NUCLEOTIDASE 1; P5N1 Asterisk 606225 TASTE RECEPTOR TYPE 1, MEMBER 1; TAS1R1 T1R1 Asterisk 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2 T1R2 Asterisk 606227 MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN; MFRP Asterisk 606228 ARGONAUTE 1, RISC CATALYTIC COMPONENT; AGO1 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 1; EIF2C1;; EIF2C;; GERP95 Asterisk 606229 ARGONAUTE 2, RISC CATALYTIC COMPONENT; AGO2 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 2; EIF2C2 Asterisk 606230 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3 PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN 2; PSAP2;; PROSAP2;; KIAA1650 Asterisk 606231 ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN, AND LEUCINE ZIPPER-CONTAINING PROTEIN 2; APPL2 ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER MOTIF 2;; DIP13-BETA;; FLJ10659 Number Sign 606232 PHELAN-MCDERMID SYNDROME; PHMDS CHROMOSOME 22q13.3 DELETION SYNDROME;; TELOMERIC 22q13 MONOSOMY SYNDROME Asterisk 606233 PROKINETICIN 1; PROK1 PK1; PRK1;; ENDOCRINE GLAND-DERIVED VASCULAR ENDOTHELIAL GROWTH FACTOR; EG-VEGF Asterisk 606234 IKAROS FAMILY ZINC FINGER 2; IKZF2 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 2; ZNF1A2;; HELIOS Asterisk 606235 THIOREDOXIN REDUCTASE 3; TXNRD3 TRXR3;; TR2 Asterisk 606236 ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1; ASPSCR1 ASPL;; TETHER, CONTAINING UBX DOMAIN FOR GLUT4; TUG ASPSCR1/TFE3 FUSION GENE, INCLUDED Asterisk 606237 TRANSFORMING GROWTH FACTOR-BETA RECEPTOR-ASSOCIATED PROTEIN 1; TGFBRAP1 TGFBR-ASSOCIATED PROTEIN 1; TRAP1 Asterisk 606238 IKAROS FAMILY ZINC FINGER 5; IKZF5 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 5; ZNFN1A5;; PEGASUS Asterisk 606239 IKAROS FAMILY ZINC FINGER 4; IKZF4 ZINC FINGER PROTEIN, SUBFAMILY 1A, MEMBER 4; ZNFN1A4;; EOS;; KIAA1782 Percent 606240 THYROID CANCER, NONMEDULLARY, 3; NMTC3 THYROID CANCER, NONMEDULLARY, 1, FORMERLY; NMTC1, FORMERLY Asterisk 606241 DICER, DROSOPHILA, HOMOLOG OF, 1; DICER1 DCR1;; HELICASE WITH RNASE MOTIF; HERNA;; HELICASE-MOI;; K12H4.8-LIKE;; KIAA0928 Percent 606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM KONDOH SYNDROME Number Sign 606243 ALVEOLAR SOFT PART SARCOMA; ASPS Asterisk 606244 SIGNAL-TRANSDUCING ADAPTOR MOLECULE 2; STAM2 Asterisk 606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12 JOINED TO JAZF1; JJAZ1;; KIAA0160 JJAZ1/JAZF1 FUSION GENE, INCLUDED Asterisk 606246 JUXTAPOSED WITH ANOTHER ZINC FINGER GENE 1; JAZF1 TAK1-INTERACTING PROTEIN 27; TIP27 JAZF1/JJAZ1 FUSION GENE, INCLUDED Asterisk 606247 STAM-BINDING PROTEIN; STAMBP ASSOCIATED MOLECULE WITH THE SH3 DOMAIN OF STAM; AMSH Asterisk 606248 QUINOLINATE PHOSPHORIBOSYLTRANSFERASE; QPRT QPRTase Asterisk 606249 PROTEIN KINASE, LYSINE-DEFICIENT 2; WNK2 PRKWNK2;; KIAA1760 Asterisk 606250 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 8; GALNT8 GalNAc TRANSFERASE 8; GalNAcT8 Asterisk 606251 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 9; GALNT9 GalNAc TRANSFERASE 9; GalNAcT9 Asterisk 606252 TIR DOMAIN-CONTAINING ADAPTOR PROTEIN; TIRAP MYD88 ADAPTOR-LIKE; MAL Caret 606253 MOVED TO 191343 Asterisk 606254 SELENOPROTEIN F; SELENOF SELENOPROTEIN, 15-KD; SEP15 Percent 606255 STATURE AS A QUANTITATIVE TRAIT STATURE QUANTITATIVE TRAIT LOCUS 1, INCLUDED; STQTL1, INCLUDED Percent 606256 STATURE QUANTITATIVE TRAIT LOCUS 2; STQTL2 Percent 606257 STATURE QUANTITATIVE TRAIT LOCUS 3; STQTL3 Percent 606258 STATURE QUANTITATIVE TRAIT LOCUS 4; STQTL4 Asterisk 606259 BRMS1 TRANSCRIPTIONAL REPRESSOR AND ANOIKIS REGULATOR; BRMS1 BREAST CANCER METASTASIS SUPPRESSOR 1 Asterisk 606260 MYOTUBULARIN-RELATED PROTEIN 9; MTMR9 MYOTUBULARIN-RELATED PROTEIN 8, FORMERLY; MTMR8, FORMERLY Asterisk 606261 NUDIX HYDROLASE 6; NUDT6 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 6;; NUDIX MOTIF 6;; FIBROBLAST GROWTH FACTOR 2, ANTISENSE; FGF2AS;; ASFGF2;; FIBROBLAST GROWTH FACTOR, BASIC, ANTISENSE;; GFG1;; GFG Caret 606262 MOVED TO 602080 Percent 606263 PAGET DISEASE OF BONE 4; PDB4 Asterisk 606264 C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A LECTIN, C-TYPE, SUPERFAMILY MEMBER 12; CLECSF12;; DECTIN 1;; DECTIN1;; BETA-GLUCAN RECEPTOR; BGR Asterisk 606265 E1A-BINDING PROTEIN, 400-KD; EP400 p400;; CAGH32;; KIAA1498;; KIAA1818;; DOMINO, DROSOPHILA, HOMOLOG OF;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 12, FORMERLY; TNRC12, FORMERLY Asterisk 606266 BCL2-MODIFYING FACTOR; BMF Asterisk 606267 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 16; WNT16 Asterisk 606268 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A; WNT10A Asterisk 606269 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13C; TNFRSF13C B CELL-ACTIVATING FACTOR RECEPTOR;; BAFF RECEPTOR; BAFFR Asterisk 606270 TOLL-LIKE RECEPTOR 10; TLR10 TLR11, INCLUDED Asterisk 606271 DISRUPTED IN SCHIZOPHRENIA 2; DISC2 Asterisk 606272 CYSTINOSIN; CTNS Asterisk 606273 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, GAMMA;; EIF2B-GAMMA Asterisk 606274 CASEIN KINASE I, GAMMA-1; CSNK1G1 Caret 606275 MOVED TO 601172 Asterisk 606276 CARTILAGE ACIDIC PROTEIN 1; CRTAC1 CHONDROCYTE-EXPRESSED PROTEIN, 68-KD; CEP68;; LATERAL OLFACTORY TRACT USHER SUBSTANCE; LOTUS Asterisk 606277 TOLL-INTERACTING PROTEIN; TOLLIP Asterisk 606278 F-BOX AND WD40 DOMAIN PROTEIN 7; FBXW7 FBW7;; FBXW6; FBW6;; FBXO30; FBX30;; ARCHIPELAGO, DROSOPHILA, HOMOLOG OF; AGO;; CDC4, S. CEREVISIAE, HOMOLOG OF;; SEL10, C. ELEGANS, HOMOLOG OF; SEL10 Asterisk 606279 ABI FAMILY MEMBER 3 BINDING PROTEIN; ABI3BP TARGET OF NESH-SH3; TARSH Asterisk 606280 NON-SMC CONDENSIN I COMPLEX SUBUNIT G; NCAPG CONDENSIN I COMPLEX, NON-SMC SUBUNIT G;; CHROMOSOME-ASSOCIATED PROTEIN G; CAPG Asterisk 606281 RAS-ASSOCIATED PROTEIN RAB38; RAB38 Percent 606282 DEAFNESS, AUTOSOMAL DOMINANT 24; DFNA24 Asterisk 606283 SORCS RECEPTOR 1; SORCS1 Asterisk 606284 SORCS RECEPTOR 2; SORCS2 KIAA1329 Asterisk 606285 SORCS RECEPTOR 3; SORCS3 KIAA1059 Asterisk 606286 DEAD/H BOX 43; DDX43 HELICASE ANTIGEN; HAGE Caret 606287 MOVED TO 605743 Asterisk 606288 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 1; PCDHGA1 PCDH-GAMMA-A1 Asterisk 606289 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 2; PCDHGA2 PCDH-GAMMA-A2 Asterisk 606290 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 3; PCDHGA3 PCDH-GAMMA-A3 Asterisk 606291 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 4; PCDHGA4 PCDH-GAMMA-A4 Asterisk 606292 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 5; PCDHGA5 PCDH-GAMMA-A5 Asterisk 606293 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 6; PCDHGA6 PCDH-GAMMA-A6 Asterisk 606294 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 7; PCDHGA7 PCDH-GAMMA-A7 Asterisk 606295 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 8; PCDHGA8 PCDH-GAMMA-A8;; KIAA0327 Asterisk 606296 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 9; PCDHGA9 PCDH-GAMMA-A9 Asterisk 606297 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 10; PCDHGA10 PCDH-GAMMA-A10 Asterisk 606298 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 11; PCDHGA11 PCDH-GAMMA-A11 Asterisk 606299 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 1; PCDHGB1 PCDH-GAMMA-B1 Asterisk 606300 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 2; PCDHGB2 PCDH-GAMMA-B2 Asterisk 606301 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 3; PCDHGB3 PCDH-GAMMA-B3 Asterisk 606302 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 5; PCDHGB5 PCDH-GAMMA-B5 Asterisk 606303 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 6; PCDHGB6 PCDH-GAMMA-B6 Asterisk 606304 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 7; PCDHGB7 PCDH-GAMMA-B7 Asterisk 606305 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 4; PCDHGC4 PCDH-GAMMA-C4 Asterisk 606306 PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 5; PCDHGC5 PCDH-GAMMA-C5 Asterisk 606307 PROTOCADHERIN-ALPHA 1; PCDHA1 PCDH-ALPHA-1 Asterisk 606308 PROTOCADHERIN-ALPHA 2; PCDHA2 PCDH-ALPHA-2 Asterisk 606309 PROTOCADHERIN-ALPHA 3; PCDHA3 PCDH-ALPHA-3 Asterisk 606310 PROTOCADHERIN-ALPHA 4; PCDHA4 PCDH-ALPHA-4;; CADHERIN-RELATED NEURONAL RECEPTOR 1, MOUSE, HOMOLOG OF; CNR1 Asterisk 606311 PROTOCADHERIN-ALPHA 5; PCDHA5 PCDH-ALPHA-5;; CADHERIN-RELATED NEURONAL RECEPTOR 6, MOUSE, HOMOLOG OF; CNR6 Asterisk 606312 PROTOCADHERIN-ALPHA 6; PCDHA6 PCDH-ALPHA-6;; CADHERIN-RELATED NEURONAL RECEPTOR 2, MOUSE, HOMOLOG OF; CNR2 Asterisk 606313 PROTOCADHERIN-ALPHA 7; PCDHA7 PCDH-ALPHA-7;; CADHERIN-RELATED NEURONAL RECEPTOR 4, MOUSE, HOMOLOG OF; CNR4 Asterisk 606314 PROTOCADHERIN-ALPHA 8; PCDHA8 PCDH-ALPHA-8 Asterisk 606315 PROTOCADHERIN-ALPHA 9; PCDHA9 PCDH-ALPHA-9;; KIAA0345 Asterisk 606316 PROTOCADHERIN-ALPHA 10; PCDHA10 PCDH-ALPHA-10;; CADHERIN-RELATED NEURONAL RECEPTOR 8, MOUSE, HOMOLOG OF; CNR8 Asterisk 606317 PROTOCADHERIN-ALPHA 11; PCDHA11 PCDH-ALPHA-11;; CADHERIN-RELATED NEURONAL RECEPTOR 7, MOUSE, HOMOLOG OF; CNR7 Asterisk 606318 PROTOCADHERIN-ALPHA 12; PCDHA12 PCDH-ALPHA-12 Asterisk 606319 PROTOCADHERIN-ALPHA 13; PCDHA13 PCDH-ALPHA-13;; CADHERIN-RELATED NEURONAL RECEPTOR 5, MOUSE, HOMOLOG OF; CNR5 Asterisk 606320 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 1; PCDHAC1 PCDH-ALPHA-C1 Asterisk 606321 PROTOCADHERIN-ALPHA, SUBFAMILY C, MEMBER 2; PCDHAC2 PCDH-ALPHA-C2 Asterisk 606322 CYTOPLASMIC FMRP-INTERACTING PROTEIN 1; CYFIP1 SPECIFICALLY RAC1-ASSOCIATED PROTEIN 1; SRA1;; KIAA0068 Asterisk 606323 CYTOPLASMIC FMRP-INTERACTING PROTEIN 2; CYFIP2 p53-INDUCIBLE PROTEIN; PIR121 Number Sign 606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 Percent 606325 HETEROTAXY, VISCERAL, 3, AUTOSOMAL; HTX3 Asterisk 606326 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 6; SIX6 Asterisk 606327 PROTOCADHERIN-BETA 1; PCDHB1 PCDH-BETA-1 Asterisk 606328 PROTOCADHERIN-BETA 2; PCDHB2 PCDH-BETA-2 Asterisk 606329 PROTOCADHERIN-BETA 3; PCDHB3 PCDH-BETA-3 Asterisk 606330 PROTOCADHERIN-BETA 4; PCDHB4 PCDH-BETA-4 Asterisk 606331 PROTOCADHERIN-BETA 5; PCDHB5 PCDH-BETA-5 Asterisk 606332 PROTOCADHERIN-BETA 6; PCDHB6 PCDH-BETA-6 Asterisk 606333 PROTOCADHERIN-BETA 7; PCDHB7 PCDH-BETA-7 Asterisk 606334 PROTOCADHERIN-BETA 8; PCDHB8 PCDH-BETA-8 Asterisk 606335 PROTOCADHERIN-BETA 9; PCDHB9 PCDH-BETA-9 Asterisk 606336 PROTOCADHERIN-BETA 10; PCDHB10 PCDH-BETA-10 Asterisk 606337 PROTOCADHERIN-BETA 11; PCDHB11 PCDH-BETA-11 Asterisk 606338 PROTOCADHERIN-BETA 12; PCDHB12 PCDH-BETA-12 Asterisk 606339 PROTOCADHERIN-BETA 13; PCDHB13 PCDH-BETA-13 Asterisk 606340 PROTOCADHERIN-BETA 14; PCDHB14 PCDH-BETA-14 Asterisk 606341 PROTOCADHERIN-BETA 15; PCDHB15 PCDH-BETA-15 Asterisk 606342 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 4; SIX4 Asterisk 606343 POLYMERASE, DNA, LAMBDA; POLL Asterisk 606344 POLYMERASE, DNA, MU; POLM Asterisk 606345 PROTOCADHERIN-BETA 16; PCDHB16 PCDH-BETA-16;; PCDHB8A;; KIAA1621 Number Sign 606346 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, INCLUDED Asterisk 606347 PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 1; PSTPIP1 PSTPIP;; CD2 ANTIGEN-BINDING PROTEIN 1; CD2BP1 Percent 606348 INFLAMMATORY BOWEL DISEASE 5; IBD5 NULL 606349 GAMBLING, PATHOLOGIC Asterisk 606350 APRATAXIN; APTX FLJ20157 Asterisk 606351 ESPIN, MOUSE, HOMOLOG OF; ESPN Asterisk 606352 ALSIN ALS2 GENE;; KIAA1563 Number Sign 606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ PLS, JUVENILE Caret 606354 MOVED TO 605317 Asterisk 606355 DEAD BOX POLYPEPTIDE 18; DDX18 Asterisk 606356 TRANSMEMBRANE PROTEIN 123; TMEM123 PRO-ONCOSIS RECEPTOR INDUCING MEMBRANE INJURY; PORIMIN;; KERATINOCYTE-ASSOCIATED TRANSMEMBRANE PROTEIN 3; KCT3 Asterisk 606357 DEAD/H BOX 21; DDX21 Asterisk 606358 ANTERIOR GRADIENT 2, XENOPUS, HOMOLOG OF; AGR2 AG2 Asterisk 606359 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3A; WNT3A Asterisk 606360 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 8A; WNT8A Asterisk 606361 WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 5B; WNT5B Asterisk 606362 ACID PHOSPHATASE, TESTICULAR; ACPT TESTICULAR ACID PHOSPHATASE Asterisk 606363 ABI FAMILY MEMBER 3; ABI3 NESH PROTEIN; NESH Caret 606364 MOVED TO 606658 Asterisk 606365 GLUTAMINASE 2; GLS2 GLUTAMINASE, LIVER;; GA Asterisk 606366 RAS HOMOLOG GENE FAMILY, MEMBER U; RHOU WNT1-RESPONSIVE CDC42 HOMOLOG; WRCH1 Number Sign 606367 IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF;; IL2RA DEFICIENCY;; CD25 DEFICIENCY Asterisk 606368 APOLIPOPROTEIN A-V; APOA5 APOAV NULL 606369 MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY Asterisk 606370 THIAMINE PYROPHOSPHOKINASE; TPK1 THIAMINE KINASE Asterisk 606371 ACTIVATING TRANSCRIPTION FACTOR 7; ATF7 ATFA Asterisk 606372 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 10; CHRNA10 ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-10 SUBUNIT Asterisk 606373 FORMIN 2; FMN2 Asterisk 606374 BETA-1,3-GLUCURONYLTRANSFERASE 3; B3GAT3 GLUCURONOSYLTRANSFERASE I; GLCATI Caret 606375 MOVED TO 151290 Asterisk 606376 CARBOHYDRATE SULFOTRANSFERASE 10; CHST10 HNK1 SULFOTRANSFERASE; HNK1ST Asterisk 606377 DIMERIC DIHYDRODIOL DEHYDROGENASE; DHDH HUM2DD Asterisk 606378 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 4; ST6GALNAC4 SIALYLTRANSFERASE 3C; SIAT3C;; NeuAc-ALPHA-2,3-Gal-BETA-1,3-GalNAc-ALPHA-2,6-SIALYLTRANSFERASE IV;; ST6GalNAc IV Asterisk 606379 G PROTEIN-COUPLED RECEPTOR 87; GPR87 GPR95 Asterisk 606380 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 13; P2RY13 G PROTEIN-COUPLED RECEPTOR 86; GPR86;; GPR94 Asterisk 606381 SUCCINATE RECEPTOR 1; SUCNR1 G PROTEIN-COUPLED RECEPTOR 91; GPR91 Asterisk 606382 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 2; MAGI2 ATROPHIN 1-INTERACTING PROTEIN 1; AIP1;; SYNAPTIC SCAFFOLDING MOLECULE; SSCAM;; KIAA0705 Asterisk 606383 G PROTEIN-COUPLED RECEPTOR 84; GPR84 Asterisk 606384 UBIQUITIN PROTEIN LIGASE NEDD4-LIKE; NEDD4L NEDD4-2;; KIAA0439;; RSP5, S. CEREVISIAE, HOMOLOG OF Asterisk 606385 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 1; OLIG1 Asterisk 606386 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 2; OLIG2 PROTEIN KINASE C BINDING PROTEIN 2; PRKCBP2;; BASIC HELIX-LOOP-HELIX PROTEIN, CLASS B, 1; BHLHB1 Asterisk 606387 TOPOISOMERASE I, MITOCHONDRIAL; TOP1MT Asterisk 606388 THIOESTERASE SUPERFAMILY MEMBER 4; THEM4 C-TERMINAL MODULATOR PROTEIN; CTMP Asterisk 606389 CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1 CATSPER Caret 606390 MOVED TO 142560 Number Sign 606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY MASON-TYPE DIABETES Number Sign 606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4; MODY4 MODY, TYPE 4 Asterisk 606393 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN-LIKE PROTEIN DECYSIN 1; ADAMDEC1 ADAM-LIKE PROTEIN DECYSIN 1;; DECYSIN Number Sign 606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY6 MODY, TYPE 6 Asterisk 606395 PROLACTIN REGULATORY ELEMENT-BINDING PROTEIN; PREB Asterisk 606396 BRIDGING INTEGRATOR 3; BIN3 Asterisk 606397 CLARIN 1; CLRN1 USH3A GENE; USH3A;; USH3 Asterisk 606398 ACTIVATING TRANSCRIPTION FACTOR 5; ATF5 ATFX Asterisk 606399 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 3; CACNA2D3 Asterisk 606400 CALPAIN 7; CAPN7 PALB, ASPERGILLUS NIDULANS, HOMOLOG OF; PALBH Asterisk 606401 CALPAIN 9; CAPN9 NCL4 Asterisk 606402 GASTROKINE 1; GKN1 CA11 GENE;; BRICHOS DOMAIN-CONTAINING 1; BRICD1;; ANTRUM MUCOSA PROTEIN, 18-KD; AMP18;; FOVEOLIN; FOV Asterisk 606403 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-3 SUBUNIT; CACNG3 Asterisk 606404 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-4 SUBUNIT; CACNG4 Asterisk 606405 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-5 SUBUNIT; CACNG5 Asterisk 606406 NUCLEAR PORE COMPLEX-INTERACTING PROTEIN; NPIP Number Sign 606407 HYPOTONIA-CYSTINURIA SYNDROME CYSTINURIA WITH MITOCHONDRIAL DISEASE;; HOMOZYGOUS 2p16 DELETION SYNDROME, FORMERLY HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED Number Sign 606408 EHLERS-DANLOS SYNDROME, CLASSIC-LIKE; EDSCLL EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY;; EDS DUE TO TNX DEFICIENCY;; TNX DEFICIENCY Asterisk 606409 ITCHY E3 UBIQUITIN PROTEIN LIGASE, MOUSE, HOMOLOG OF; ITCH ATROPHIN 1-INTERACTING PROTEIN 4; AIP4;; NFE2-ASSOCIATED POLYPEPTIDE 1; NAPP1 Asterisk 606410 ANTHRAX TOXIN RECEPTOR 1; ANTXR1 TUMOR ENDOTHELIAL MARKER 8; TEM8;; ANTHRAX TOXIN RECEPTOR; ATR Asterisk 606411 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 3; SLC13A3 SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER 3; NADC3 Asterisk 606412 BSND GENE; BSND BARTTIN Asterisk 606413 INSULIN-LIKE 5; INSL5 Asterisk 606414 INSULIN-LIKE 6; INSL6 RELAXIN/INSULIN-LIKE FACTOR 1; RIF1 Caret 606415 MOVED TO 114580 Asterisk 606416 NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3 CIAS1 GENE; CIAS1;; CRYOPYRIN;; NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 3; NALP3;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 1; PYPAF1;; AII/AVP RECEPTOR-LIKE Asterisk 606417 WD REPEAT-CONTAINING PROTEIN 11; WDR11 WDR15;; KIAA1351;; BROMODOMAIN- AND WD REPEAT-CONTAINING PROTEIN 2, FORMERLY; BRWD2, FORMERLY Asterisk 606418 24-DEHYDROCHOLESTEROL REDUCTASE; DHCR24 KIAA0018;; SELECTIVE AD INDICATOR 1; SELADIN1;; DESMOSTEROL DELTA-24-REDUCTASE Asterisk 606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31 PRP31 Asterisk 606420 ENGULFMENT AND CELL MOTILITY GENE 1; ELMO1 CED12, C. ELEGANS, HOMOLOG OF, 1 Asterisk 606421 ENGULFMENT AND CELL MOTILITY GENE 2; ELMO2 CED12, C. ELEGANS, HOMOLOG OF, 2 Asterisk 606422 ENGULFMENT AND CELL MOTILITY GENE 3; ELMO3 CED12, C. ELEGANS, HOMOLOG OF, 3 Asterisk 606423 DISRUPTED IN RENAL CARCINOMA 1; DIRC1 Asterisk 606424 EGL9, C. ELEGANS, HOMOLOG OF, 2; EGLN2 PROLYL HYDROXYLASE DOMAIN-CONTAINING PROTEIN 1; PHD1;; HYPOXIA-INDUCIBLE FACTOR PROLYL 4-HYDROXYLASE 1; HIFPH1; HIFP4H1;; HIF PROLYL 4-HYDROXYLASE 1 Asterisk 606425 EGL9, C. ELEGANS, HOMOLOG OF, 1; EGLN1 PROLYL HYDROXYLASE DOMAIN-CONTAINING PROTEIN 2; PHD2;; HYPOXIA-INDUCIBLE FACTOR PROLYL 4-HYDROXYLASE 2; HPH2; HIFPH2; HIFP4H2;; HIF PROLYL 4-HYDROXYLASE 2;; CHROMOSOME 1 OPEN READING FRAME 12; C1ORF12;; SM20, RAT, HOMOLOG OF; SM20;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 6; ZMYND6 Asterisk 606426 EGL9, C. ELEGANS, HOMOLOG OF, 3; EGLN3 PROLYL HYDROXYLASE DOMAIN-CONTAINING PROTEIN 3; PHD3;; HYPOXIA-INDUCIBLE FACTOR PROLYL 4-HYDROXYLASE 3; HIFPH3; HIFP4H3;; HIF PROLYL 4-HYDROXYLASE 3 Asterisk 606427 ZINC FINGER PROTEIN 320; ZNF320 Asterisk 606428 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A3; UGT1A3 UGT1C Asterisk 606429 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A4; UGT1A4 UGT1D Asterisk 606430 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A5; UGT1A5 UGT1E Asterisk 606431 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A6; UGT1A6 UGT1F;; GNT1 Asterisk 606432 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A7; UGT1A7 UGT1G Asterisk 606433 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A8; UGT1A8 UGT1H Asterisk 606434 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A9; UGT1A9 Asterisk 606435 UDP-GLYCOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A10; UGT1A10 UGT1J Asterisk 606436 SYNAPTOTAGMIN 12; SYT12 SYNAPTOTAGMIN-RELATED GENE 1, RAT, HOMOLOG OF; SRG1 Caret 606437 MOVED TO 121200 Number Sign 606438 HUNTINGTON DISEASE-LIKE 2; HDL2 Asterisk 606439 ATLASTIN GTPase 1; ATL1 ATLASTIN;; SPG3A GENE; SPG3A Asterisk 606440 STEREOCILIN; STRC Asterisk 606441 HTRA SERINE PEPTIDASE 2; HTRA2 HTRA, E. COLI, HOMOLOG OF, 2;; PROTEASE, SERINE, 25; PRSS25;; OMI Asterisk 606442 ABL INTERACTOR 2; ABI2 ABL-INTERACTING PROTEIN 1; AIP1 Asterisk 606443 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3; CREB3 LUMAN;; BASIC LEUCINE ZIPPER PROTEIN; LZIP Asterisk 606444 CREB/ATF BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR; CREBZF CREB/ATF bZIP TRANSCRIPTION FACTOR;; ZHANGFEI; ZF NULL 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS; PPBL Asterisk 606446 SLAM FAMILY, MEMBER 6; SLAMF6 NATURAL KILLER-, T-, AND B-CELL ANTIGEN;; NK-, T-, AND B-CELL ANTIGEN; NTBA;; LY108 Asterisk 606447 RNA-BINDING PROTEIN S1; RNPS1 Asterisk 606448 THIOREDOXIN REDUCTASE 2; TXNRD2 TRXR2;; THIOREDOXIN REDUCTASE, MITOCHONDRIAL;; TR-BETA;; TR3;; SELENOPROTEIN Z; SELZ Asterisk 606449 PROTEIN-TYROSINE PHOSPHATASE, TYPE 4A, 3; PTP4A3 PRL3 Asterisk 606450 NEUROEPITHELIAL CELL TRANSFORMING GENE 1; NET1 Percent 606451 DEAFNESS, AUTOSOMAL DOMINANT 30; DFNA30 Asterisk 606452 WILDTYPE p53-INDUCED GENE WIG1 Asterisk 606453 LIPOPOLYSACCHARIDE-RESPONSIVE, BEIGE-LIKE ANCHOR PROTEIN; LRBA LBA;; CELL DIVISION CYCLE 4-LIKE PROTEIN; CDC4L;; CDC4-LIKE PROTEIN Asterisk 606454 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, BETA;; EIF2B-BETA Asterisk 606455 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13B; PPP1R13B APOPTOSIS-STIMULATING PROTEIN OF p53, 1; ASPP1;; KIAA0771 Asterisk 606456 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 3; NPM3 Asterisk 606457 INHIBITOR OF BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; IBTK Asterisk 606458 AXIN1 UPREGULATED; AXUD1 Asterisk 606459 OPIOID GROWTH FACTOR RECEPTOR; OGFR Percent 606460 LONGEVITY 2 LGV2 Asterisk 606461 TRIMETHYLGUANOSINE SYNTHASE, S. CEREVISIAE, HOMOLOG OF; TGS1 PRIP-INTERACTING PROTEIN WITH METHYLTRANSFERASE DOMAIN; PIMT;; NUCLEAR RECEPTOR COACTIVATOR 6; NCOA6IP Asterisk 606462 RAD21, S. POMBE, HOMOLOG OF; RAD21 NUCLEAR MATRIX PROTEIN 1; NXP1;; SISTER CHROMATID COHESION 1; SCC1;; HR21;; KIAA0078 Asterisk 606463 GLUCOSIDASE, BETA, ACID; GBA GBA1;; ACID BETA-GLUCOSIDASE;; BETA-GLUCOSIDASE, ACID;; BETA-GC;; GLUCOCEREBROSIDASE;; GLUCOSYLCERAMIDASE GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED Asterisk 606464 HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP LIVER-EXPRESSED ANTIMICROBIAL PEPTIDE; LEAP1;; HEPCIDIN; HEPC Asterisk 606465 KRUPPEL-LIKE FACTOR 15; KLF15 KIDNEY-ENRICHED KRUPPEL-LIKE FACTOR; KKLF Asterisk 606466 PML-RARA TARGET GENE ENCODING AN ADAPTOR MOLECULE 1; PRAM1 Asterisk 606467 ALDEHYDE DEHYDROGENASE 8 FAMILY, MEMBER A1; ALDH8A1 ALDH12 Asterisk 606468 NUCLEOLAR PROTEIN FAMILY A, MEMBER 1; NOLA1 GAR1, S. CEREVISIAE, HOMOLOG OF; GAR1 Asterisk 606469 RING FINGER PROTEIN 29; RNF29 MUSCLE-SPECIFIC RING FINGER PROTEIN 2; MURF2 Asterisk 606470 NUCLEOLAR PROTEIN FAMILY A, MEMBER 2; NOLA2 NHP2, S. CEREVISIAE, HOMOLOG OF; NHP2 Asterisk 606471 NUCLEOLAR PROTEIN FAMILY A, MEMBER 3; NOLA3 NOP10, S. CEREVISIAE, HOMOLOG OF; NOP10 Asterisk 606472 SS18-LIKE GENE 1; SS18L1 KIAA0693;; CALCIUM-RESPONSIVE TRANSACTIVATOR; CREST Asterisk 606473 SS18-LIKE GENE 2; SS18L2 Asterisk 606474 RING FINGER PROTEIN 30; RNF30 MUSCLE-SPECIFIC RING FINGER PROTEIN 3; MURF3 Asterisk 606475 CD320 ANTIGEN; CD320 8D6 ANTIGEN; 8D6; 8D6A;; TRANSCOBALAMIN RECEPTOR; TCBLR Asterisk 606476 INOSITOL 1,4,5-TRISPHOSPHATE 3-KINASE C; ITPKC Asterisk 606477 SERINE RACEMASE; SRR Asterisk 606478 PROTECTION OF TELOMERES 1; POT1 Asterisk 606479 NEUROLIGIN 2; NLGN2 NL2;; KIAA1366 Asterisk 606480 ZINC METALLOPROTEINASE STE24; ZMPSTE24 STE24, S. CEREVISIAE, HOMOLOG OF;; FACE1 Asterisk 606481 PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE, A; PIB5PA PROLINE-RICH INOSITOL POLYPHOSPHATE 5-PHOSPHATASE; PIPP;; INOSITOL POLYPHOSPHATE 5-PHOSPHATASE Number Sign 606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B; CMTDIB CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B;; DI-CMTB;; CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, INCLUDED; CMT2M, INCLUDED;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M, INCLUDED;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M, INCLUDED;; CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED;; CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED Percent 606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A; CMTDIA CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE A;; DI-CMTA Asterisk 606484 MYOTROPHIN; MTPN V-1 Asterisk 606485 POLYMERASE II, RNA, SUBUNIT M; POLR2M GRINL1A COMPLEX LOCUS DOWNSTREAM GENE; GDOWN;; GCOM1 DOWNSTREAM GENE;; GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE-LIKE 1A; GRINL1A GRINL1A COMPLEX LOCUS DOWNSTREAM TRANSCRIPT 1, INCLUDED; GDOWN1, INCLUDED Asterisk 606486 CHMP FAMILY, MEMBER 1B; CHMP1B CHROMATIN-MODIFYING PROTEIN 1B;; CHARGED MULTIVESICULAR BODY PROTEIN 1B;; CHROMOSOME 18 OPEN READING FRAME 2; C18ORF2 Asterisk 606487 HRAS-LIKE SUPPRESSOR; HRASLS Asterisk 606488 EXOSOME COMPONENT 7; EXOSC7 RIBOSOMAL RNA-PROCESSING PROTEIN 42, S. CEREVISIAE, HOMOLOG OF; RRP42;; KIAA0116 Asterisk 606489 EXOSOME COMPONENT 3; EXOSC3 RIBOSOMAL RNA-PROCESSING PROTEIN 40, S. CEREVISIAE, HOMOLOG OF; RRP40 Asterisk 606490 EXOSOME COMPONENT 6; EXOSC6 mRNA TRANSPORT REGULATOR 3, S. CEREVISIAE, HOMOLOG OF; MTR3 Asterisk 606491 EXOSOME COMPONENT 4; EXOSC4 RIBOSOMAL RNA-PROCESSING PROTEIN 41, S. CEREVISIAE, HOMOLOG OF; RRP41 Asterisk 606492 EXOSOME COMPONENT 5; EXOSC5 RIBOSOMAL RNA-PROCESSING PROTEIN 46, S. CEREVISIAE, HOMOLOG OF; RRP46 Asterisk 606493 EXOSOME COMPONENT 1; EXOSC1 CSL4, S. CEREVISIAE, HOMOLOG OF; CSL4 Asterisk 606494 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 3; ST3GAL3 SIALYLTRANSFERASE 6; SIAT6;; N-ACETYLLACTOSAMINIDE ALPHA-2,3-SIALYLTRANSFERASE;; ALPHA-2,3-SIALYLTRANSFERASE II; ST3GALII;; ST3N Asterisk 606495 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 4; MARK4 MAP/MICROTUBULE AFFINITY-REGULATING KINASE-LIKE 1; MARKL1;; KIAA1860 Asterisk 606496 INTERLEUKIN 17F; IL17F ML1 Asterisk 606497 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B28; UGT2B28 Asterisk 606498 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 3; MS4A3 HEMATOPOIETIC CELL 4-TRANSMEMBRANE PROTEIN; HTM4;; CD20 ANTIGEN-LIKE; CD20L Asterisk 606499 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 5; MS4A5 TESTIS-EXPRESSED TRANSMEMBRANE 4; TETM4;; CD20 ANTIGEN-LIKE 2; CD20L2 Asterisk 606500 SECRETOGLOBIN, FAMILY 3A, MEMBER 1; SCGB3A1 UTEROGLOBIN-RELATED PROTEIN 2; UGRP2;; HIN1 Asterisk 606501 MYOTUBULARIN-RELATED PROTEIN 12; MTMR12 PHOSPHATIDYLINOSITOL 3-PHOSPHATE 3-PHOSPHATASE ADAPTOR SUBUNIT; 3PAP;; KIAA1682 Asterisk 606502 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 7; MS4A7 CD20/FCER1B FAMILY MEMBER 4; CFFM4 Asterisk 606503 SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 2; SUV39H2 SU(VAR)3-9, DROSOPHILA, HOMOLOG OF, 2 Asterisk 606504 CANCER SUSCEPTIBILITY CANDIDATE 3; CASC3 MLN51 GENE; MLN51;; BARENTSZ, DROSOPHILA, HOMOLOG OF Asterisk 606505 PIN2-INTERACTING PROTEIN 1; PINX1 TRF1-INTERACTING PROTEIN 1;; LPTS Caret 606506 MOVED TO 300927 Caret 606507 MOVED TO 602488 Asterisk 606508 Fc RECEPTOR-LIKE PROTEIN 1; FCRL1 FCRH1 Asterisk 606509 Fc RECEPTOR-LIKE PROTEIN 2; FCRL2 FCRH2;; SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1; SPAP1 SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1A, INCLUDED; SPAP1A, INCLUDED;; SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1B, INCLUDED; SPAP1B, INCLUDED;; SH2 DOMAIN-CONTAINING PHOSPHATASE ANCHOR PROTEIN 1C, INCLUDED; SPAP1C, INCLUDED Asterisk 606510 Fc RECEPTOR-LIKE PROTEIN 3; FCRL3 FCRH3 Asterisk 606511 MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1; MARK1 MARK;; KIAA1477 Asterisk 606512 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 1; PACSIN1 KIAA1379 Asterisk 606513 PROTEIN KINASE C AND CASEIN KINASE SUBSTRATE IN NEURONS 3; PACSIN3 Asterisk 606514 CYTOHESIN 4; CYTH4 CYT4;; PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN 4; PSCD4;; DJ63G5.1 Asterisk 606515 RNA, 7SK, SMALL NUCLEAR; RN7SK snRNA, 7SK; 7SK Asterisk 606516 MUSCLEBLIND-LIKE SPLICING REGULATOR 1; MBNL1 MUSCLEBLIND-LIKE PROTEIN 1;; MUSCLEBLIND-LIKE PROTEIN; MBNL;; MUSCLEBLIND, DROSOPHILA, HOMOLOG OF;; KIAA0428;; CUG TRIPLET REPEAT EXPANSION DOUBLE-STRANDED RNA-BINDING PROTEIN; EXP Asterisk 606517 ARYLHYDROCARBON RECEPTOR REPRESSOR; AHRR KIAA1234 Asterisk 606518 HEPATITIS A VIRUS CELLULAR RECEPTOR 1; HAVCR1 HAVCR;; T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 1; TIM1;; KIDNEY INJURY MOLECULE 1; KIM1 NULL 606519 PHACE ASSOCIATION PHACES ASSOCIATION;; AORTIC ANEURYSM, GIANT CONGENITAL Asterisk 606520 MEGAKARYOCYTE AND PLATELET INHIBITORY RECEPTOR G6B; MPIG6B G6B PROTEIN; G6B;; CHROMOSOME 6 OPEN READING FRAME 25; C6ORF25 Asterisk 606521 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL THIAMINE PYROPHOSPHATE CARRIER), MEMBER 19; SLC25A19 MITOCHONDRIAL UNCOUPLING PROTEIN 1; MUP1;; MITOCHONDRIAL THIAMINE PYROPHOSPHATE CARRIER; TPC;; MITOCHONDRIAL DEOXYNUCLEOTIDE CARRIER, FORMERLY; DNC, FORMERLY Asterisk 606522 GROWTH/DIFFERENTIATION FACTOR 3; GDF3 Asterisk 606523 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 1; SRGAP1 SLIT-ROBO GTPase-ACTIVATING PROTEIN, RHO, 1;; SLIT-ROBO GAP1;; KIAA1304;; ARHGAP13 Asterisk 606524 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2; SRGAP2 SRGAP2A;; SLIT-ROBO GTPase-ACTIVATING PROTEIN, RHO, 2;; SLIT-ROBO GAP 2;; KIAA0456;; FORMIN-BINDING PROTEIN 2; FNBP2 Asterisk 606525 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 3; SRGAP3 SLIT-ROBO GAP 3;; MENTAL DISORDER-ASSOCIATED GAP PROTEIN; MEGAP;; WAVE-ASSOCIATED RAC GTPase-ACTIVATING PROTEIN; WRP;; KIAA0411;; ARHGAP14 SRGAP3/RAF1 FUSION GENE, INCLUDED Asterisk 606526 MELANOPHILIN; MLPH SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS A; SLAC2A NULL 606527 MEGARBANE SYNDROME Number Sign 606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME HYPERINSULINISM, INFANTILE, WITH ENTEROPATHY AND DEAFNESS NULL 606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE Asterisk 606530 CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1 CYP27;; STEROL 27-HYDROXYLASE Asterisk 606531 SECRETOGLOBIN, FAMILY 3A, MEMBER 2; SCGB3A2 UTEROGLOBIN-RELATED PROTEIN 1; UGRP1 Asterisk 606532 HORMONALLY UPREGULATED NEU-ASSOCIATED KINASE; HUNK Asterisk 606533 CHLORIDE INTRACELLULAR CHANNEL 3; CLIC3 Asterisk 606534 CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 43; CYP3A43 Asterisk 606535 MYC-BINDING PROTEIN; MYCBP ASSOCIATE OF MYC; AMY1 Asterisk 606536 CHLORIDE INTRACELLULAR CHANNEL 4; CLIC4 CHLORIDE INTRACELLULAR CHANNEL, MITOCHONDRIAL; MTCLIC Asterisk 606537 MYOSIN IB; MYO1B Asterisk 606538 MYOSIN IC; MYO1C MYOSIN 2, RAT, HOMOLOG OF; MYR2;; NUCLEAR MYOSIN I; NMI Asterisk 606539 MYOSIN ID; MYO1D KIAA0727 Asterisk 606540 MYOSIN VB; MYO5B KIAA1119 Asterisk 606541 MYOSIN VIIB; MYO7B Asterisk 606542 HISTONE DEACETYLASE 7A; HDAC7A HDAC7;; DKFZP586J0917 Asterisk 606543 HISTONE DEACETYLASE 9; HDAC9 HISTONE DEACETYLASE 7B; HDAC7B;; MEF2-INTERACTING TRANSCRIPTION REPRESSOR PROTEIN; MITR;; KIAA0744 HISTONE DEACETYLASE 9A, INCLUDED; HDAC9A, INCLUDED Asterisk 606544 MITOCHONDRIAL ELONGATION FACTOR G2; GFM2 ELONGATION FACTOR G2; EFG2;; RIBOSOME-RECYCLING FACTOR 2, MITOCHONDRIAL; MRRF2; RRF2 Number Sign 606545 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3; ARCI3 COLLODION BABY, SELF-HEALING;; ICHTHYOSIS, LAMELLAR, 5, FORMERLY; LI5, FORMERLY Asterisk 606546 HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI Asterisk 606547 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 4A; MS4A4A MS4A4 Asterisk 606548 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 6A; MS4A6A MS4A6 Asterisk 606549 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 8B; MS4A8B Asterisk 606550 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 12 MS4A12 Asterisk 606551 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 1; LZTS1 F37;; FEZ1, FORMERLY Percent 606552 EPISODIC ATAXIA, TYPE 4; EA4 PERIODIC VESTIBULOCEREBELLAR ATAXIA; PATX;; ATAXIA, PERIODIC VESTIBULOCEREBELLAR Asterisk 606553 SOLUTE CARRIER FAMILY 9, MEMBER 3, REGULATOR 2; SLC9A3R2 SRY-INTERACTING PROTEIN 1; SIP1;; SODIUM/HYDROGEN EXCHANGER 3 KINASE A REGULATORY PROTEIN; E3KARP;; NHE3 KINASE A REGULATORY PROTEIN;; SODIUM/HYDROGEN EXCHANGER REGULATORY FACTOR 2; NHERF2;; NHE3 REGULATORY FACTOR 2; NHE3RF2 Percent 606554 EPISODIC ATAXIA, TYPE 3; EA3 ATAXIA, EPISODIC, WITH VERTIGO AND TINNITUS Asterisk 606555 TRIPARTITE MOTIF-CONTAINING PROTEIN 9; TRIM9 SNAP25-INTERACTING RING FINGER, RAT, HOMOLOG OF; SPRING;; KIAA0282 Asterisk 606556 TRIPARTITE MOTIF-CONTAINING PROTEIN 14; TRIM14 KIAA0129 Asterisk 606557 B-CELL CLL/LYMPHOMA 11A; BCL11A CTIP1, MOUSE, HOMOLOG OF; CTIP1;; EVI9, MOUSE, HOMOLOG OF; EVI9;; KIAA1809;; FLJ10173 Asterisk 606558 B-CELL CLL/LYMPHOMA 11B; BCL11B CTIP2, MOUSE, HOMOLOG OF; CTIP2;; RADIATION-INDUCED TUMOR SUPPRESSOR GENE 1; RIT1 Asterisk 606559 TRIPARTITE MOTIF-CONTAINING PROTEIN 22; TRIM22 STIMULATED TRANS-ACTING FACTOR, 50-KD; STAF50 Asterisk 606560 SPERM-ASSOCIATED ANTIGEN 11; SPAG11 BIN1B, RAT, HOMOLOG OF;; HE2;; EP2 Asterisk 606561 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 1; SLC36A1 LYSOSOMAL AMINO ACID TRANSPORTER 1; LYAAT1;; PROTON/AMINO ACID TRANSPORTER 1; PAT1 Asterisk 606562 TRANSMEMBRANE 6 SUPERFAMILY, MEMBER 1; TM6SF1 Asterisk 606563 TRANSMEMBRANE 6 SUPERFAMILY, MEMBER 2; TM6SF2 KIAA1926 Asterisk 606564 PROSTATE TRANSMEMBRANE PROTEIN, ANDROGEN-INDUCED; PMEPA1 TRANSMEMBRANE PROSTATE ANDROGEN-INDUCED RNA; TMEPAI Asterisk 606565 TRANSMEMBRANE PROTEASE, SERINE 4; TMPRSS4 Asterisk 606566 MYOSIN LIGHT CHAIN KINASE 2; MYLK2 MYOSIN LIGHT POLYPEPTIDE KINASE, SKELETAL/CARDIAC;; MLCK, SKELETAL/CARDIAC Asterisk 606567 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 4; TM4SF4 INTESTINE AND LIVER TETRASPAN MEMBRANE PROTEIN; ILTMP Asterisk 606568 LEUCINE ZIPPER TRANSCRIPTION FACTOR-LIKE 1; LZTFL1 BBS17 GENE Asterisk 606569 SUPPRESSOR OF ACTIN MUTATIONS 1-LIKE; SACM1L SUPPRESSOR OF ACTIN 1; SAC1;; KIAA0851 Asterisk 606570 SECRETED FRIZZLED-RELATED PROTEIN 4; SFRP4 FRIZZLED-RELATED PROTEIN, HUMAN ENDOMETRIUM; FRPHE Asterisk 606571 LOW DENSITY LIPOPROTEIN RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 4; LDLRAD4 LDLR CLASS A DOMAIN-CONTAINING PROTEIN 4;; CHROMOSOME 18 OPEN READING FRAME 1; C18ORF1 Asterisk 606572 NADPH OXIDASE 5; NOX5 Asterisk 606573 FYN-RELATED KINASE; FRK RAK;; GTK, MOUSE, HOMOLOG OF; GTK Number Sign 606574 ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4 OCULOCUTANEOUS ALBINISM, TYPE IV Asterisk 606575 MEMBRANE PROTEIN, PALMITOYLATED 4; MPP4 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 6; DLG6 Asterisk 606576 TAF3 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 140-KD; TAF3 TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 140-KD; TAFII140 Asterisk 606577 SRC-LIKE ADAPTOR 2; SLA2 SLAP2 Asterisk 606578 AQUAPORIN 10; AQP10 Number Sign 606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 VITILIGO; VTLG;; SYSTEMIC LUPUS ERYTHEMATOSUS, VITILIGO-RELATED; SLEV1 Asterisk 606580 OPA3 GENE; OPA3 Number Sign 606581 POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO; PSAB DRUG ADDICTION, SUSCEPTIBILITY TO Asterisk 606582 DELTA-LIKE 1; DLL1 DL1;; DELTA, DROSOPHILA, HOMOLOG OF, 1; DELTA1 Asterisk 606583 PEROXIREDOXIN 5; PRDX5 ANTIOXIDANT ENZYME B166; AOEB166 Asterisk 606584 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 23; PTPN23 HIS-DOMAIN PROTEIN-TYROSINE PHOSPHATASE; HDPTP;; KIAA1471 Asterisk 606585 ENAMELIN; ENAM Asterisk 606586 RETINOIC ACID-INDUCED 14; RAI14 NOVEL RETINAL PIGMENT EPITHELIAL CELL GENE; NORPEG;; KIAA1334 Asterisk 606587 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 18; PTPN18 BRAIN-DERIVED PHOSPHATASE; BDP1 Asterisk 606588 DNA METHYLTRANSFERASE 3-LIKE PROTEIN; DNMT3L DNA CYTOSINE-5-METHYLTRANSFERASE 3-LIKE PROTEIN Asterisk 606589 SORTING NEXIN 13; SNX13 RGS DOMAIN- AND PHOX DOMAIN-CONTAINING PROTEIN; RGS-PX1;; KIAA0713 Asterisk 606590 NUCLEAR PROTEIN LOCALIZATION 4, S. CEREVISIAE, HOMOLOG OF; NPLOC4 NPL4, S. CEREVISIAE, HOMOLOG OF;; KIAA1499 Asterisk 606591 MUS81, S. CEREVISIAE, HOMOLOG OF; MUS81 SLX3, YEAST, HOMOLOG OF; SLX3 Asterisk 606592 VANIN 3; VNN3 Number Sign 606593 LIG4 SYNDROME Asterisk 606594 SET DOMAIN-CONTAINING PROTEIN 7; SETD7 SET7;; SET9;; HISTONE H3-LYSINE 4-SPECIFIC METHYLTRANSFERASE;; H3-K4-HMTase;; KIAA1717 Number Sign 606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F; CMT2F CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2F;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2F Asterisk 606596 FUKUTIN-RELATED PROTEIN; FKRP Asterisk 606597 PAIRED BOX GENE 3; PAX3 PAIRED DOMAIN GENE HuP2; HUP2 PAX3/FKHR FUSION GENE, INCLUDED Asterisk 606598 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1 Asterisk 606599 THIOREDOXIN-INTERACTING PROTEIN; TXNIP VITAMIN D3-UPREGULATED PROTEIN 1; VDUP1;; THIOREDOXIN-BINDING PROTEIN 2 Asterisk 606600 RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 1; RASGRF1 GUANINE NUCLEOTIDE-RELEASING FACTOR, 55-KD; GRF55 Asterisk 606601 ENDOGENOUS RETROVIRAL SEQUENCE E, 1; ERVE1 HERVE1 Asterisk 606602 BRAIN AND ACUTE LEUKEMIA GENE, CYTOPLASMIC; BAALC Asterisk 606603 EDAR-ASSOCIATED DEATH DOMAIN; EDARADD Asterisk 606604 F-BOX ONLY PROTEIN 32; FBXO32 MUSCLE ATROPHY F-BOX; MAFBX;; ATROPHY GENE 1; ATROGIN1;; FLJ32424 Asterisk 606605 ATR-INTERACTING PROTEIN; ATRIP Caret 606606 MOVED TO 262700 Asterisk 606607 PROTEASOME SUBUNIT, ALPHA-TYPE, 7; PSMA7 XAPC7;; PROTEASOME SUBUNIT ALPHA-4 Asterisk 606608 YES-ASSOCIATED PROTEIN 1, 65-KD; YAP1 YAP;; YAP65;; YORKIE, DROSOPHILA, HOMOLOG OF; YKI YAP2, INCLUDED Asterisk 606609 3-PRIME REPAIR EXONUCLEASE 1; TREX1 DNase III Asterisk 606610 NSFL1 COFACTOR; NSFL1C p47 Asterisk 606611 DEFENSIN, BETA, 103A; DEFB103A DEFB103;; HBD3;; HBP3;; DEFENSIN, BETA, 3, FORMERLY; DEFB3, FORMERLY Number Sign 606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C;; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED Percent 606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; HDLCQ1 HDLC1 Asterisk 606614 RAS PROTEIN-SPECIFIC GUANINE NUCLEOTIDE-RELEASING FACTOR 2; RASGRF2 Asterisk 606615 HYPOXIA-INDUCIBLE FACTOR 1-ALPHA INHIBITOR; HIF1AN HIF1A INHIBITOR;; FACTOR-INHIBITING HIF1A; FIH1 Percent 606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6 Caret 606617 MOVED TO 604169 Asterisk 606618 DUAL-SPECIFICITY PHOSPHATASE 14; DUSP14 MAP KINASE PHOSPHATASE 6; MKP6 Asterisk 606619 GLUCOSIDASE, BETA, ACID 3; GBA3 BETA-GLUCOSIDASE, CYTOSOLIC; CBGL1;; BETA-GLYCOSIDASE, CYTOSOLIC;; KLOTHO-RELATED PROTEIN; KLRP Asterisk 606620 SLAM FAMILY, MEMBER 8; SLAMF8 B-LYMPHOCYTE ACTIVATOR, MACROPHAGE-EXPRESSED; BLAME Asterisk 606621 INTRAFLAGELLAR TRANSPORT 57, CHLAMYDOMONAS, HOMOLOG OF; IFT57 ESTROGEN-RELATED RECEPTOR-BETA-LIKE 1; ESRRBL1;; HIP1 PROTEIN INTERACTOR; HIPPI Asterisk 606622 SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1; SMARCAL1 SMARCA-LIKE PROTEIN 1;; HepA-RELATED PROTEIN; HARP Asterisk 606623 17-BETA-HYDROXYSTEROID DEHYDROGENASE VI; HSD17B6 3-ALPHA-HYDROXYSTEROID EPIMERASE; HSE;; RETINOL DEHYDROGENASE; RODH;; OXIDATIVE 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE Asterisk 606624 NEUROGENIN 2; NEUROG2 NGN2;; ATOH4 Asterisk 606625 SLAM FAMILY, MEMBER 7; SLAMF7 CD2-LIKE RECEPTOR ACTIVATING CYTOTOXIC CELLS; CRACC;; CS1;; CD319 Asterisk 606626 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1; DAAM1 KIAA0666 Asterisk 606627 DISHEVELLED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 2; DAAM2 KIAA0381 Asterisk 606628 GLYCINE N-METHYLTRANSFERASE; GNMT Asterisk 606629 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIMS1 RAB3A-INTERACTING MOLECULE 1; RIM1;; RIM;; KIAA0340 Asterisk 606630 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 2; RIMS2 RAB3A-INTERACTING MOLECULE 2; RIM2;; KIAA0751;; OBOE Percent 606631 CAMURATI-ENGELMANN DISEASE, TYPE 2 CAEND2 NULL 606632 ODOR, MALE, WOMEN'S CHOICE OF Asterisk 606633 TRANSCRIPTION FACTOR Sp7; SP7 SPECIFICITY PROTEIN 7;; OSTERIX; OSX Asterisk 606634 DERMCIDIN; DCD PROTEOLYSIS-INDUCING FACTOR; PIF;; DIFFUSIBLE SURVIVAL/EVASION PEPTIDE; DSEP;; SURVIVAL-PROMOTING PEPTIDE;; CANCER CACHECTIC FACTOR 1; CCF1 Asterisk 606635 TRANSMEMBRANE PROTEASE, SERINE 15; TMPRSS15 PROTEASE, SERINE, 7; PRSS7;; ENTEROKINASE; ENTK;; PROENTEROKINASE Asterisk 606636 NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 1; NALP1;; DEATH EFFECTOR FILAMENT-FORMING CED4-LIKE APOPTOSIS PROTEIN; DEFCAP;; KIAA0926;; CARD7;; NLRP1A, MOUSE, HOMOLOG OF; NLRP1A DEFCAP-L, INCLUDED;; DEFCAP-S, INCLUDED Asterisk 606637 PEPTIDE YY, 2; PYY2 SEMINALPLASMIN Asterisk 606638 PANCREATIC POLYPEPTIDE 2; PPY2 Asterisk 606639 MITOCHONDRIAL ELONGATION FACTOR G1; GFM1 ELONGATION FACTOR G1; EFG; EFG1;; GFM Percent 606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 Percent 606641 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 1; BMIQ1 BODY MASS INDEX; BMI Caret 606642 MOVED TO 606641 Percent 606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 2; BMIQ2 Asterisk 606644 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 8; IGSF8 PROSTAGLANDIN REGULATORY-LIKE; PGRL;; CD81 PARTNER 3; CD81P3 Asterisk 606645 CENTAURIN, DELTA-1; CENTD1 ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 2; ARAP2;; KIAA0580 Asterisk 606646 CENTAURIN, DELTA-2; CENTD2 ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; ARAP1;; KIAA0782 Asterisk 606647 CENTAURIN, DELTA-3; CENTD3 ARF-GAP, RHO-GAP, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 3; ARAP3 Asterisk 606648 INTERLEUKIN 22 RECEPTOR, ALPHA-2; IL22RA2 INTERLEUKIN 22-BINDING PROTEIN; IL22BP Asterisk 606649 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 ENHANCER-BINDING PROTEIN 3; HIVEP3 ZAS FAMILY, MEMBER 3; ZAS3;; KRC, MOUSE, HOMOLOG OF; KRC;; SCHNURRI, DROSOPHILA, HOMOLOG OF, 3; SHN3 Asterisk 606650 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3A; GRIN3A NR3A Asterisk 606651 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE 3B; GRIN3B NR3B Asterisk 606652 HEPATITIS A VIRUS CELLULAR RECEPTOR 2; HAVCR2 T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 3; TIM3 Asterisk 606653 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 6; LGR6 Asterisk 606654 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 1; RXFP1 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 7; LGR7 Asterisk 606655 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 2; RXFP2 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 8; LGR8;; GREAT;; GPR106 Percent 606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2; IBGC2 Number Sign 606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO NTG;; GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO; NPG Number Sign 606658 SPINOCEREBELLAR ATAXIA 15; SCA15 SPINOCEREBELLAR ATAXIA 16, FORMERLY; SCA16, FORMERLY Asterisk 606659 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, B; TIMM8B TIM8B;; DEAFNESS/DYSTONIA PEPTIDE 2; DDP2 Percent 606660 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 UVM1 Percent 606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 UVM2 Percent 606662 WAARDENBURG SYNDROME, TYPE 2C; WS2C WAARDENBURG SYNDROME, TYPE IIC Asterisk 606663 LYSYL OXIDASE-LIKE 2; LOXL2 Number Sign 606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY GNMT DEFICIENCY Asterisk 606665 OPSIN 4; OPN4 MELANOPSIN Asterisk 606666 G PROTEIN-COUPLED RECEPTOR 48; GPR48 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 4; LGR4 Asterisk 606667 LEUCINE-RICH REPEAT-CONTAINING G PROTEIN-COUPLED RECEPTOR 5; LGR5 G PROTEIN-COUPLED RECEPTOR 49; GPR49 Percent 606668 INFLAMMATORY BOWEL DISEASE 8; IBD8 Asterisk 606669 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 5; FXYD5 DYSADHERIN Asterisk 606670 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 11; PPP1R11 PROTEIN PHOSPHATASE 1 INHIBITOR 3; IPP3;; TCTEX5, MOUSE, HOMOLOG OF; TCTEX5 Asterisk 606671 NCK-INTERACTING PROTEIN WITH SH3 DOMAIN; NCKIPSD ALL1-FUSED GENE FROM CHROMOSOME 3p21; AF3P21;; SH3 PROTEIN INTERACTING WITH NCK, 90-KD; SPIN90;; WASP-INTERACTING SH3 PROTEIN; WISH Asterisk 606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA GP Ib, ALPHA SUBUNIT;; PLATELET GLYCOPROTEIN Ib, ALPHA POLYPEPTIDE;; CD42B GLYCOCALICIN, INCLUDED Asterisk 606673 BETA-UREIDOPROPIONASE; UPB1 BUP1;; BETA-ALANINE SYNTHASE Percent 606674 INFLAMMATORY BOWEL DISEASE 6; IBD6 Percent 606675 INFLAMMATORY BOWEL DISEASE 4; IBD4 Asterisk 606676 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 2; TRPV2 VANILLOID RECEPTOR-LIKE PROTEIN 1; VRL1 Asterisk 606677 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER C; CLEC4C LECTIN, C-TYPE, SUPERFAMILY MEMBER 11; CLECSF11;; DENDRITIC CELL LECTIN; DLEC;; BLOOD DENDRITIC CELL ANTIGEN 2; BDCA2;; CLECSF7;; HECL;; CD303 ANTIGEN; CD303 Asterisk 606678 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8; TRPM8 TRPP8;; COLD-MENTHOL RECEPTOR 1; CMR1 Asterisk 606679 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 5; TRPV5 EPITHELIAL CALCIUM CHANNEL 1; ECAC1;; CALCIUM TRANSPORTER 2; CAT2 Asterisk 606680 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 6; TRPV6 EPITHELIAL CALCIUM CHANNEL 2; ECAC2;; CALCIUM TRANSPORTER 1; CAT1;; CALCIUM TRANSPORTER-LIKE PROTEIN; CATL Asterisk 606681 NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1; NSD1 NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1;; SET DOMAIN PROTEIN 1;; ANDROGEN RECEPTOR-ASSOCIATED COREGULATOR 267; ARA267 NSD1/NUP98 FUSION GENE, INCLUDED Asterisk 606682 HPS4 GENE; HPS4 LIGHT EAR, MOUSE, HOMOLOG OF; LE Asterisk 606683 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 6; FXYD6 Asterisk 606684 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 7; FXYD7 Number Sign 606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L Asterisk 606686 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, ALPHA;; EIF2B-ALPHA Asterisk 606687 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4 EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, DELTA;; EIF2B-DELTA Number Sign 606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES Percent 606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B Number Sign 606690 LYMPHANGIOLEIOMYOMATOSIS; LAM LYMPHANGIOMYOMATOSIS Asterisk 606691 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 19; CEACAM19 CARCINOEMBRYONIC ANTIGEN-LIKE 1; CEAL1 Asterisk 606692 TNF RECEPTOR-ASSOCIATED FACTOR 7; TRAF7 RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 1; RFWD1 Number Sign 606693 KUFOR-RAKEB SYNDROME; KRS PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET; PARK9;; PALLIDOPYRAMIDAL DEGENERATION WITH SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA; KRPPD Asterisk 606694 NUCLEOPORIN, 155-KD; NUP155 KIAA0791 Asterisk 606695 OPSIN 3; OPN3 PANOPSIN;; ENCEPHALOPSIN; ECPN Asterisk 606696 KATANIN, p60 SUBUNIT, A1; KATNA1 Asterisk 606697 ZINC FINGER PROTEIN ZK1 ZK1 Asterisk 606698 SRY-BOX 30 SOX30 Asterisk 606699 HELICASE WITH ZINC FINGER DOMAIN; HELZ KIAA0054;; HUMORF5 Asterisk 606700 MIDNOLIN, MOUSE, HOMOLOG OF; MIDN Asterisk 606701 DORSAL ROOT GANGLIA HOMEOBOX; DRGX DRG11, RAT, HOMOLOG OF; DRG11;; PRRXL1, MOUSE, HOMOLOG OF; PRRXL1 Asterisk 606702 PKHD1 GENE; PKHD1 FIBROCYSTIN; FCYT;; POLYDUCTIN;; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 GENE Number Sign 606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM Asterisk 606704 G PROTEIN-COUPLED RECEPTOR 75; GPR75 Number Sign 606705 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36 Asterisk 606706 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 1; TMC1 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1 Asterisk 606707 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 2; TMC2 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 2 Percent 606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5 Asterisk 606709 PROTEASE, SERINE, 12; PRSS12 NEUROTRYPSIN;; MOTOPSIN;; BRAIN-SPECIFIC SERINE PROTEASE 3; BSSP3 Asterisk 606710 LIPOMA HMGIC FUSION PARTNER; LHFP LHFP/HMGIC FUSION GENE, INCLUDED Percent 606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16 Percent 606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19 Number Sign 606713 VAN DER WOUDE SYNDROME 2; VWS2 Asterisk 606714 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 1; PNRC1 PROLINE-RICH PROTEIN 2; PROL2 Asterisk 606715 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 4; ACCN4 ACID-SENSING ION CHANNEL 4; ASIC4;; BRAIN SODIUM CHANNEL 4; BNAC4 Asterisk 606716 N-ACETYLTRANSFERASE 8; NAT8 TSC510;; CAMELLO, XENOPUS, HOMOLOG OF, 1; CML1 Asterisk 606717 XIAP-ASSOCIATED FACTOR 1; XAF1 Asterisk 606718 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 2; SLC26A2 DTD SULFATE TRANSPORTER; DTDST Number Sign 606719 MELANOMA-PANCREATIC CANCER SYNDROME FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA-PANCREATIC CARCINOMA SYNDROME; FAMMMPC Asterisk 606720 ENDONUCLEASE, POLY(U)-SPECIFIC; ENDOU PLACENTAL PROTEIN 11; PP11 Number Sign 606721 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7; FPLD7 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, WITH OR WITHOUT NEURODEGENERATION SYNDROME; LCCNS Asterisk 606722 NEUROCALCIN, DELTA; NCALD Asterisk 606723 MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 5; MAPKAPK5 MAPKAP KINASE 5; MK5;; p38-REGULATED/ACTIVATED KINASE; PRAK Asterisk 606724 MITOGEN-ACTIVATED PROTEIN KINASE-INTERACTING SERINE/THREONINE KINASE 1; MKNK1 MAPK-INTERACTING KINASE 1; MNK1 Asterisk 606725 CLN6 GENE; CLN6 Asterisk 606726 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 5; SLC12A5 POTASSIUM-CHLORIDE COTRANSPORTER 2; KCC2;; KIAA1176 Asterisk 606727 NK2 HOMEOBOX 3; NKX2-3 NK2, DROSOPHILA, HOMOLOG OF, C; NKX2C;; NK2.3, MOUSE, HOMOLOG OF;; CARDIAC-SPECIFIC HOMEOBOX 3; CSX3 Asterisk 606728 CAVEOLAE-ASSOCIATED PROTEIN 2; CAVIN2 SERUM DEPRIVATION RESPONSE PHOSPHATIDYLSERINE-BINDING PROTEIN; SDPR;; SDR Asterisk 606729 OXYSTEROL-BINDING PROTEIN 2; OSBP2 OSBP-RELATED PROTEIN 4; ORP4;; KIAA1664 Asterisk 606730 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 1A; OSBPL1A OSBP-RELATED PROTEIN 1; ORP1;; OSBPL1B Asterisk 606731 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 2; OSBPL2 OSBP-RELATED PROTEIN 2; ORP2;; KIAA0772 Asterisk 606732 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 3; OSBPL3 OSBP-RELATED PROTEIN 3; ORP3;; KIAA0704 Asterisk 606733 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 5; OSBPL5 OSBP-RELATED PROTEIN 5; ORP5;; KIAA1534;; OBPH1 Asterisk 606734 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 6; OSBPL6 OSBP-RELATED PROTEIN 6; ORP6 Asterisk 606735 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 7; OSBPL7 OSBP-RELATED PROTEIN 7; ORP7 Asterisk 606736 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 8; OSBPL8 OSBP-RELATED PROTEIN 8; ORP8;; KIAA1451 Asterisk 606737 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 9; OSBPL9 OSBP-RELATED PROTEIN 9; ORP9 Asterisk 606738 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 10; OSBPL10 OSBP-RELATED PROTEIN 10; ORP10 Asterisk 606739 OXYSTEROL-BINDING PROTEIN-LIKE PROTEIN 11; OSBPL11 OSBP-RELATED PROTEIN 11; ORP11 Asterisk 606740 ZINC FINGER PROTEIN 180; ZNF180 Asterisk 606741 ZINC FINGER PROTEIN 181; ZNF181 Asterisk 606742 TOLLOID-LIKE 1; TLL1 TLL Asterisk 606743 TOLLOID-LIKE 2; TLL2 KIAA0932 Number Sign 606744 SECKEL SYNDROME 2; SCKL2 SECKEL-TYPE DWARFISM 2;; MICROCEPHALIC PRIMORDIAL DWARFISM 2 Asterisk 606745 PARTITIONING-DEFECTIVE PROTEIN 3, C. ELEGANS, HOMOLOG OF; PARD3 PAR3 Asterisk 606746 CHROMOSOME 19 OPEN READING FRAME 10; C19ORF10 INTERLEUKIN 25; IL25;; STROMA-DERIVED GROWTH FACTOR 20; SF20 Asterisk 606747 VASCULAR ENDOTHELIAL ZINC FINGER 1; VEZF1 ZINC FINGER PROTEIN 161; ZNF161 Asterisk 606748 COACTOSIN-LIKE PROTEIN 1; COTL1 CLP Asterisk 606749 TUBULOINTERSTITIAL NEPHRITIS ANTIGEN; TINAG TIN1, INCLUDED;; TIN2, INCLUDED Asterisk 606750 Z-DNA BINDING PROTEIN 1; ZBP1 CHROMOSOME 20 OPEN READING FRAME 183; C20ORF183;; TUMOR STROMA AND ACTIVATED MACROPHAGE PROTEIN DLM1; DLM1;; DNA-DEPENDENT ACTIVATOR OF INTERFERON REGULATORY FACTORS; DAI Asterisk 606751 TRANSMEMBRANE PROTEASE, SERINE 5; TMPRSS5 SPINAL CORD-ENRICHED TRYPSIN-LIKE PROTEASE; SPINESIN NULL 606752 ACUTE HEMORRHAGIC LEUKOENCEPHALITIS AHL Asterisk 606753 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 4; TTC4 Asterisk 606754 SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; SAMHD1 DENDRITIC CELL-DERIVED IFNG-INDUCED PROTEIN; DCIP Asterisk 606755 PEPTIDYLARGININE DEIMINASE, TYPE III; PADI3 PDI3 Asterisk 606756 17-BETA-HYDROXYSTEROID DEHYDROGENASE VII; HSD17B7 Asterisk 606757 SOLUTE CARRIER FAMILY 4 (SODIUM BICARBONATE COTRANSPORTER), MEMBER 5; SLC4A5 SODIUM BICARBONATE COTRANSPORTER 4; NBC4 Asterisk 606758 DUAL OXIDASE 1; DUOX1 THYROID OXIDASE 1; THOX1 Asterisk 606759 DUAL OXIDASE 2; DUOX2 THYROID OXIDASE 2; THOX2 Caret 606760 MOVED TO 603977 Asterisk 606761 MALONYL-CoA DECARBOXYLASE; MLYCD MCD Number Sign 606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 HYPERINSULINISM-HYPERAMMONEMIA SYNDROME Number Sign 606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2 CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS Number Sign 606764 GASTROINTESTINAL STROMAL TUMOR; GIST Asterisk 606765 THYROID PEROXIDASE; TPO THYROPEROXIDASE Number Sign 606766 SPERMATOGENIC FAILURE 3; SPGF3 Asterisk 606767 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 3; KCNG3 KV6.3;; KV10.1 Number Sign 606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT Asterisk 606769 HELICASE, POLQ-LIKE; HELQ POLQ-LIKE HELICASE;; HEL308 Percent 606770 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2; ADIPQTL2 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5; CAQ5 Percent 606771 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3; ADIPQTL3 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14; CAQ14 Percent 606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES MOMES SYNDROME NULL 606773 HEMIFACIAL MYOHYPERPLASIA; HMH Asterisk 606774 MYOINOSITOL OXYGENASE; MIOX ALDEHYDE REDUCTASE-LIKE 6; ALDRL6;; ALDOSE REDUCTASE-LIKE 6;; ALDR6R Asterisk 606775 CHONDROITIN SULFATE PROTEOGLYCAN 5; CSPG5 NEUROGLYCAN C; NGC Asterisk 606776 TRANSGLUTAMINASE 7; TGM7 TRANSGLUTAMINASE Z Number Sign 606777 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED Asterisk 606778 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 1; SSH1 KIAA1298 Asterisk 606779 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 2; SSH2 KIAA1725 Asterisk 606780 SLINGSHOT, DROSOPHILA, HOMOLOG OF, 3; SSH3 Asterisk 606781 TRANSKETOLASE; TKT TKT1 Asterisk 606782 C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER A; CLEC1A C-TYPE LECTIN-LIKE RECEPTOR 1; CLEC1;; MELANIN-SENSING C-TYPE LECTIN RECEPTOR; MELLEC Asterisk 606783 C-TYPE LECTIN DOMAIN FAMILY 1, MEMBER B; CLEC1B C-TYPE LECTIN-LIKE RECEPTOR 2; CLEC2 Asterisk 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A Number Sign 606785 CRIGLER-NAJJAR SYNDROME, TYPE II HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II; HBLRCN2 Asterisk 606786 CD300C ANTIGEN; CD300C CMRF35 ANTIGEN; CMRF35;; CMRF35A;; CMRF35A1 Percent 606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1 PAOD1 Percent 606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO; ANON AN ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1, INCLUDED; ANON1, INCLUDED Percent 606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4 Asterisk 606790 CD300A ANTIGEN; CD300A CMRF35H ANTIGEN; CMRF35H;; CMRF35H9;; IRP60 Asterisk 606791 TRANSMEMBRANE PHOSPHOINOSITIDE 3-PHOSPHATASE AND TENSIN HOMOLOG 2; TPTE2 TPTE AND PTEN HOMOLOGOUS INOSITOL LIPID PHOSPHATASE; TPIP;; VOLTAGE-SENSITIVE PHOSPHATASE 1; VSP1 TPIP-ALPHA, INCLUDED;; TPIP-BETA, INCLUDED Asterisk 606792 HISTAMINE RECEPTOR H4; HRH4 HH4R Asterisk 606793 AMINOPEPTIDASE, PUROMYCIN-SENSITIVE; NPEPPS PSA;; METALLOPROTEASE MP100; MP100 Asterisk 606794 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 10; SLC25A10 DICARBOXYLATE ION CARRIER; DIC Asterisk 606795 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 17; SLC25A17 PEROXISOMAL MEMBRANE PROTEIN, 34-KD; PMP34 Asterisk 606796 SUPPRESSION OF TUMORIGENICITY 13; ST13 P48;; HSC70-INTERACTING PROTEIN; HIP Asterisk 606797 SUPPRESSION OF TUMORIGENICITY 14; ST14 MATRIPTASE;; EPITHIN;; MEMBRANE-TYPE SERINE PROTEASE 1; MTSP1 Number Sign 606798 BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO Percent 606799 STROKE, SUSCEPTIBILITY TO, 1 STRK1 Asterisk 606800 GLUCOSIDASE, ALPHA, ACID; GAA ACID ALPHA-GLUCOSIDASE;; ALPHA-GLUCOSIDASE, ACID;; ALPHA-1,4-GLUCOSIDASE;; ACID MALTASE Asterisk 606801 MACROPHAGE ERYTHROBLAST ATTACHER; MAEA ERYTHROBLAST MACROPHAGE PROTEIN; EMP;; GID COMPLEX, SUBUNIT 9; GID9;; GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 9, S. CEREVISIAE, HOMOLOG OF Asterisk 606802 SPIB TRANSCRIPTION FACTOR; SPIB Asterisk 606803 ACYL-CoA THIOESTERASE 11; ACOT11 THIOESTERASE, ADIPOSE-ASSOCIATED; THEA;; BROWN FAT-INDUCIBLE THIOESTERASE; BFIT;; KIAA0707 BFIT1, INCLUDED;; BFIT2, INCLUDED Asterisk 606804 GOLGI MEMBRANE PROTEIN 1; GOLM1 GOLGI PHOSPHOPROTEIN 2; GOLPH2;; GOLGI PROTEIN, 73-KD; GP73 Asterisk 606805 GOLGI INTEGRAL MEMBRANE PROTEIN 4; GOLIM4 GOLGI PHOSPHOPROTEIN 4; GOLPH4;; GOLGI PHOSPHOPROTEIN, 130-KD; GPP130 Asterisk 606806 FORMIMINOTRANSFERASE CYCLODEAMINASE; FTCD Asterisk 606807 INTERLEUKIN 17 RECEPTOR D; IL17RD SEF, ZEBRAFISH, HOMOLOG OF; SEF Asterisk 606808 MYOSIN IIIA; MYO3A Asterisk 606809 ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 3; ACBD3 GOLGI COMPLEX-ASSOCIATED PROTEIN 1; GOCAP1;; GOLGI PHOSPHOPROTEIN 1; GOLPH1;; GOLGI COMPLEX-ASSOCIATED PROTEIN, 60-KD; GCP60 Asterisk 606810 PROLINE DEHYDROGENASE 1; PRODH PRODH1;; PROLINE OXIDASE 1; POX Asterisk 606811 ALDEHYDE DEHYDROGENASE, FAMILY 4, SUBFAMILY A, MEMBER 1; ALDH4A1 ALDEHYDE DEHYDROGENASE 4; ALDH4;; PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; P5CDH; P5CD Number Sign 606812 FUMARASE DEFICIENCY; FMRD FUMARIC ACIDURIA Asterisk 606813 SOLUTE CARRIER FAMILY 2i (FACILITATED GLUCOSE TRANSPORTER), MEMBER 6; SLC2A6 Asterisk 606814 PROTEOGLYCAN 3; PRG3 PREPRO-MAJOR BASIC PROTEIN HOMOLOG; MBPH Asterisk 606815 CBP/P300-INTERACTING TRANSACTIVATOR, WITH GLU/ASP-RICH CARBOXY TERMINAL DOMAIN, 4; CITED4 TRANSCRIPTIONAL COACTIVATOR 4 Asterisk 606816 SID1 TRANSMEMBRANE FAMILY, MEMBER 1; SIDT1 SID1, C. ELEGANS, HOMOLOG OF Asterisk 606817 PRE-T-CELL RECEPTOR, ALPHA-CHAIN PRECURSOR; PTCRA PT-ALPHA Asterisk 606818 DIPEPTIDYL PEPTIDASE III; DPP3 Asterisk 606819 DIPEPTIDYL PEPTIDASE VIII; DPP8 Asterisk 606820 GLUTAREDOXIN 2; GLRX2 GRX2 Asterisk 606821 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 5; COG5 GOLGI TRANSPORT COMPLEX 1; GOLTC1;; GOLGI TRANSPORT COMPLEX, 90-KD SUBUNIT; GTC90 Asterisk 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1 Asterisk 606823 ADHESION G PROTEIN-COUPLED RECEPTOR A2; ADGRA2 G PROTEIN-COUPLED RECEPTOR 124; GPR124;; TUMOR ENDOTHELIAL MARKER 5; TEM5;; KIAA1531 Number Sign 606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM MONOSACCHARIDE MALABSORPTION; GM Asterisk 606825 TENSIN 3; TNS3 TUMOR ENDOTHELIAL MARKER 6; TEM6 Asterisk 606826 PLEXIN DOMAIN-CONTAINING PROTEIN 1; PLXDC1 TUMOR ENDOTHELIAL MARKER 7; TEM7 Asterisk 606827 PLEXIN DOMAIN-CONTAINING PROTEIN 2; PLXDC2 TUMOR ENDOTHELIAL MARKER 7-RELATED PROTEIN; TEM7R Asterisk 606828 N-ACETYLGLUCOSAMINE KINASE; NAGK GlcNAc KINASE; GNK Asterisk 606829 FRATAXIN; FXN FRDA GENE;; X25 Asterisk 606830 ATP/GTP-BINDING PROTEIN 1; AGTPBP1 NERVOUS SYSTEM NUCLEAR PROTEIN INDUCED BY AXOTOMY; NNA1;; KIAA1035;; CYTOSOLIC CARBOXYPEPTIDASE 1; CCP1 Asterisk 606831 NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 4; NLRC4 NLR FAMILY, CARD-CONTAINING 4;; CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; CARD12;; CARD, LRR, AND NACHT DOMAIN-CONTAINING PROTEIN; CLAN;; ICE PROTEASE-ACTIVATING FACTOR; IPAF Asterisk 606832 ENDOPLASMIC RETICULUM AMINOPEPTIDASE 1; ERAP1 ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE; ALAP;; AMINOPEPTIDASE REGULATOR OF TNFR1 SHEDDING 1; ARTS1;; PUROMYCIN-INSENSITIVE LEUCYL-SPECIFIC AMINOPEPTIDASE; PILSAP;; ENDOPLASMIC RETICULUM AMINOPEPTIDASE ASSOCIATED WITH ANTIGEN PROCESSING; ERAAP;; KIAA0525 Asterisk 606833 LYSINE-SPECIFIC METHYLTRANSFERASE 2C; KMT2C MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 3; MLL3;; KIAA1506 Asterisk 606834 LYSINE-SPECIFIC METHYLTRANSFERASE 2B; KMT2B MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 4; MLL4;; MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 2; MLL2;; TRITHORAX, DROSOPHILA, HOMOLOG OF, 2; TRX2;; KIAA0304 Number Sign 606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB Asterisk 606836 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 3, MUCIN-TYPE; GCNT3 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 3 Asterisk 606837 RB1-INDUCIBLE COILED-COIL 1; RB1CC1 CC1;; FAK FAMILY KINASE-INTERACTING PROTEIN, 200-KD; FIP200;; KIAA0203 Asterisk 606838 PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD APOPTOSIS-ASSOCIATED SPECK-LIKE PROTEIN CONTAINING A CARD; ASC;; TARGET OF METHYLATION-INDUCED SILENCING 1; TMS Asterisk 606839 CADHERIN-RELATED FAMILY, MEMBER 5; CDHR5 MUCIN AND CADHERIN-LIKE; MUCDHL Percent 606840 PARASOMNIA, SLEEP BRUXISM TYPE; PSMNSB FACIOMANDIBULAR MYOCLONUS, NOCTURNAL PARASOMNIA, SLEEPTALKING TYPE, INCLUDED; PSMNST, INCLUDED Asterisk 606841 DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN; DEDD DEATH EFFECTOR DOMAIN-CONTAINING DNA-BINDING PROTEIN;; DEATH EFFECTOR DOMAIN-CONTAINING TESTICULAR PROTEIN; DEFT Percent 606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS Number Sign 606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3 HYPER-IgM SYNDROME 3 Asterisk 606844 ALMS1 GENE; ALMS1 KIAA0328 Asterisk 606845 GOLGI-ASSOCIATED PDZ AND COILED-COIL DOMAINS-CONTAINING PROTEIN; GOPC PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10; PIST;; FUSED IN GLIOBLASTOMA; FIG;; CFTR-ASSOCIATED LIGAND; CAL FIG/ROS1 FUSION GENE, INCLUDED Asterisk 606846 SET AND MYND DOMAIN-CONTAINING PROTEIN 1; SMYD1 CD8B-OPPOSITE; BOP;; ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 18; ZMYND18 Asterisk 606847 TCOF1 GENE; TCOF1 TREACLE Asterisk 606848 NEVER IN MITOSIS GENE A-RELATED KINASE 7; NEK7 NIMA-RELATED KINASE 7 Asterisk 606849 UBIQUITIN-LIKE 5; UBL5 HUB1, S. CEREVISIAE, HOMOLOG OF; HUB1 Asterisk 606850 MIPOL1 GENE; MIPOL1 NULL 606851 CREE MENTAL RETARDATION SYNDROME Percent 606852 PARKINSON DISEASE 10; PARK10 PARKINSON DISEASE, AGE AT ONSET OF; AAOPD Asterisk 606853 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 2; ATP6V1G2 ATP6G2 Number Sign 606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT Asterisk 606855 RELAXIN 3; RLN3 H3;; RXN3 Number Sign 606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 PNCA1 Asterisk 606857 GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC GLCLC;; GAMMA-GLUTAMYLCYSTEINE SYNTHETASE, CATALYTIC SUBUNIT Caret 606858 MOVED TO 251200 Caret 606859 MOVED TO 270700 Asterisk 606860 COMPLEMENT COMPONENT 1 INHIBITOR; C1NH C1I; C1INH;; SERPIN PEPTIDASE INHIBITOR, CLADE G, MEMBER 1; SERPING1 Asterisk 606861 PROSTATE- AND TESTIS-EXPRESSED GENE; PATE Asterisk 606862 OSTEOCLAST-ASSOCIATED RECEPTOR; OSCAR Asterisk 606863 THYMOCYTE SELECTION-ASSOCIATED HIGH MOBILITY GROUP BOX; TOX THYMUS HIGH MOBILITY GROUP BOX PROTEIN, MOUSE, HOMOLOG OF;; TOX1;; KIAA0808 Number Sign 606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA CARNEY-STRATAKIS SYNDROME;; PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR Asterisk 606865 FUCOSYLTRANSFERASE 9; FUT9 Asterisk 606866 MITOCHONDRIAL RIBOSOMAL PROTEIN L49; MRPL49 NEXT TO FAU; NOF; NOF1 Asterisk 606867 GOLGI REASSEMBLY STACKING PROTEIN 1; GORASP1 GOLGI PHOSPHOPROTEIN 5; GOLPH5;; GOLGI REASSEMBLY AND STACKING PROTEIN, 65-KD; GRASP65;; GOLGI PERIPHERAL MEMBRANE PROTEIN P65; P65 Asterisk 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2 Asterisk 606869 HEXOSAMINIDASE A; HEXA BETA-HEXOSAMINIDASE A Asterisk 606870 JUNCTIONAL ADHESION MOLECULE 2; JAM2 JAM, VASCULAR ENDOTHELIAL; VEJAM;; JAM-B Asterisk 606871 JUNCTIONAL ADHESION MOLECULE 3; JAM3 JAM-C Asterisk 606872 CAS-BR-M MURINE ECTOPIC RETROVIRAL TRANSFORMING SEQUENCE LIKE-1; CBLL1 HAKAI, MOUSE, HOMOLOG OF; HAKAI Asterisk 606873 HEXOSAMINIDASE B; HEXB ENC1, ANTISENSE, INCLUDED; ENC1AS, INCLUDED Percent 606874 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6 Percent 606875 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7 Asterisk 606876 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, BETA; PITPNB Asterisk 606877 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C PP32R1 Asterisk 606878 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER D; ANP32D PP32R2 Asterisk 606879 PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH 3-PHOSPHOGLYCERATE DEHYDROGENASE; 3PGDH Asterisk 606880 CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2 FLICE-ASSOCIATED HUGE PROTEIN; FLASH;; KIAA1315 Asterisk 606881 FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 1; FHOD1 FH1/FH2 DOMAIN-CONTAINING PROTEIN; FHOS Asterisk 606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B Asterisk 606883 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4 REN64 Asterisk 606884 RNA-BINDING MOTIF PROTEIN 5; RBM5 LUCA15;; G15 Asterisk 606885 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS SHORT-CHAIN ACYL-CoA DEHYDROGENASE; SCAD;; ACYL-CoA DEHYDROGENASE, C-2 TO C-3 SHORT CHAIN Asterisk 606886 RNA-BINDING MOTIF PROTEIN 6; RBM6 DEF3 Asterisk 606887 SULFITE OXIDASE; SUOX Asterisk 606888 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 6; CHRNA6 Number Sign 606889 ALZHEIMER DISEASE 4 AD4;; ALZHEIMER DISEASE, FAMILIAL, 4 Asterisk 606890 GALACTOSYLCERAMIDASE; GALC GALACTOCEREBROSIDASE Asterisk 606891 Fc RECEPTOR-LIKE PROTEIN A; FCRLA Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS; FREB;; FCRX;; Fc RECEPTOR-LIKE PROTEIN; FCRL;; FCRL1 Asterisk 606892 SYNTAXIN 12; STX12 STX13 Number Sign 606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS VASCULAR MALFORMATION OSSEOUS; VMOS;; HEMANGIOMA, INTRAOSSEOUS NULL 606894 DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND ABSENT SUPERIOR MESENTERIC ARTERY NULL 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH Percent 606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5 Asterisk 606897 LYSOSOMAL TRAFFICKING REGULATOR; LYST CHS1 GENE; CHS1 Asterisk 606898 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-6 SUBUNIT; CACNG6 Asterisk 606899 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-7 SUBUNIT; CACNG7 Asterisk 606900 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-8 SUBUNIT; CACNG8 Caret 606901 MOVED TO 604754 Asterisk 606902 PYGOPUS, DROSOPHILA, HOMOLOG OF, 1 PYGO1 Asterisk 606903 PYGOPUS, DROSOPHILA, HOMOLOG OF, 2 PYGO2 Caret 606904 MOVED TO 254770 Asterisk 606905 PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1; PREX1 KIAA1415 Asterisk 606906 MITOCHONDRIAL RIBOSOMAL RNA METHYLTRANSFERASE 2; MRM2 MITOCHONDRIAL rRNA METHYLTRANSFERASE 2;; FtsJ, E. COLI, HOMOLOG OF, 2; FTSJ2;; FJH1 Asterisk 606907 APOLIPOPROTEIN M; APOM NG20, MOUSE, HOMOLOG OF Asterisk 606908 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; ARFGAP2 ZINC FINGER PROTEIN 289, ID1-REGULATED, FORMERLY; ZNF289, FORMERLY Asterisk 606909 VESICLE-ASSOCIATED MEMBRANE PROTEIN 4; VAMP4 Asterisk 606910 BCL2-LIKE 10; BCL2L10 Asterisk 606911 SECRETORY CARRIER MEMBRANE PROTEIN 1; SCAMP1 SCAMP37, RAT, HOMOLOG OF Asterisk 606912 SECRETORY CARRIER MEMBRANE PROTEIN 2; SCAMP2 Asterisk 606913 SECRETORY CARRIER MEMBRANE PROTEIN 3; SCAMP3 PROPIN1 Asterisk 606914 PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR BETA; PKIB Asterisk 606915 G PROTEIN-COUPLED RECEPTOR 63; GPR63 PSP24B Asterisk 606916 G PROTEIN-COUPLED RECEPTOR 61; GPR61 BIOGENIC AMINE RECEPTOR-LIKE GPCR; BALGR Asterisk 606917 G PROTEIN-COUPLED RECEPTOR 62; GPR62 Asterisk 606918 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5; GOLGA5 GOLGIN 84;; RET-FUSED GENE 5; RFG5 PTC5 CHIMERIC ONCOGENE, INCLUDED Asterisk 606919 CERAMIDE SYNTHASE 1; CERS1 LAG1, S. CEREVISIAE, HOMOLOG OF, 1; LASS1;; UPSTREAM OF GDF1; UOG1 Asterisk 606920 CERAMIDE SYNTHASE 2; CERS2 LAG1, S. CEREVISIAE, HOMOLOG OF, 2; LASS2 Asterisk 606921 G PROTEIN-COUPLED RECEPTOR 78; GPR78 Asterisk 606922 G PROTEIN-COUPLED RECEPTOR 80; GPR80 GPR99 Asterisk 606923 HYDROXYCARBOXYLIC ACID RECEPTOR 1; HCAR1 HCA1;; G PROTEIN-COUPLED RECEPTOR 81; GPR81;; T-CELL ACTIVATION G PROTEIN-COUPLED RECEPTOR; TAGPCR Caret 606924 MOVED TO 300748 Asterisk 606925 PYROGLUTAMYLATED RF-AMIDE PEPTIDE RECEPTOR; QRFPR G PROTEIN-COUPLED RECEPTOR 103; GPR103;; SP9155;; AQ27 Asterisk 606926 LYSOPHOSPHATIDIC ACID RECEPTOR 5; LPAR5 LPA5;; G PROTEIN-COUPLED RECEPTOR 92; GPR92;; GPR93 Asterisk 606927 TRACE AMINE-ASSOCIATED RECEPTOR 8; TAAR8 TRACE AMINE RECEPTOR 5; TRAR5;; TA5;; G PROTEIN-COUPLED RECEPTOR 102; GPR102 Percent 606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3 BONE MINERAL DENSITY, LOW, SUSCEPTIBILITY TO Asterisk 606929 THO COMPLEX, SUBUNIT 3; THOC3 TEX1, YEAST, HOMOLOG OF; TEX1 Asterisk 606930 THO COMPLEX, SUBUNIT 1; THOC1 NUCLEAR MATRIX PROTEIN p84;; p84N5;; HPR1, YEAST, HOMOLOG OF; HPR1 Caret 606931 MOVED TO 601501 Asterisk 606932 VACUOLAR PROTEIN SORTING 29, YEAST, HOMOLOG OF; VPS29 RETROMER PROTEIN;; PEP11;; DC7;; DC15 Asterisk 606933 TYROSINASE; TYR Asterisk 606934 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 1; NDUFAF1 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 1;; NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 1;; COMPLEX I INTERMEDIATE-ASSOCIATED PROTEIN 30; CIA30;; CGI65 Asterisk 606935 RNA-BINDING MOTIF PROTEIN 17; RBM17 SPLICING FACTOR, 45-KD; SPF45 Asterisk 606936 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 4; TRPM4 Caret 606937 MOVED TO 251300 Asterisk 606938 UROPORPHYRINOGEN III SYNTHASE; UROS UROIIIS Asterisk 606939 ATPase, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 2; ATP6V1B2 ATP6B2;; VACUOLAR PROTON PUMP B ISOFORM 2 Asterisk 606940 ZINC FINGER HOMEOBOX 4; ZFHX4 ZFH4 Asterisk 606941 ALG9, S. CEREVISIAE, HOMOLOG OF; ALG9 DISRUPTED IN BIPOLAR DISORDER 1; DIBD1 Asterisk 606942 COATOMER PROTEIN COMPLEX, SUBUNIT EPSILON; COPE EPSILON COAT PROTEIN Number Sign 606943 USHER SYNDROME, TYPE IG; USH1G Asterisk 606944 ERBB2 INTERACTING PROTEIN; ERBB2IP DENSIN-180-LIKE PROTEIN; ERBIN Asterisk 606945 LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR Asterisk 606946 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 2; ANAPC2 APC2;; KIAA1406 Asterisk 606947 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 4; ANAPC4 APC4 Asterisk 606948 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 5; ANAPC5 APC5 Asterisk 606949 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7 APC7 Asterisk 606950 THYROTROPIN-RELEASING HORMONE-DEGRADING ECTOENZYME; TRHDE TRH-DEGRADING ECTOENZYME Asterisk 606951 INTERFERON-INDUCED HELICASE C DOMAIN-CONTAINING PROTEIN 1; IFIH1 MELANOMA DIFFERENTIATION-ASSOCIATED GENE 5; MDA5 Number Sign 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B OCULOCUTANEOUS ALBINISM, TYPE IB;; ALBINISM, YELLOW MUTANT TYPE;; YELLOW ALBINISM ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED;; OCA1-TS, INCLUDED Asterisk 606953 UDP-GALACTOSE-4-EPIMERASE; GALE GALACTOSE EPIMERASE Asterisk 606954 ZINC FINGER PROTEIN 253; ZNF253 Caret 606955 MOVED TO 194555 Asterisk 606956 ZINC FINGER PROTEIN 256; ZNF256 Asterisk 606957 ZINC FINGER PROTEIN 257; ZNF257 Asterisk 606958 MEMBRANE PROTEIN, PALMITOYLATED 5; MPP5 PROTEIN ASSOCIATED WITH LIN7 1, MOUSE, HOMOLOG OF; PALS1 Asterisk 606959 MEMBRANE PROTEIN, PALMITOYLATED 6; MPP6 VELI-ASSOCIATED MAGUK 1; VAM1;; PROTEIN ASSOCIATED WITH LIN7 2, MOUSE, HOMOLOG OF; PALS2 Percent 606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS Asterisk 606961 WW DOMAIN-BINDING PROTEIN 1; WBP1 Asterisk 606962 WW DOMAIN-BINDING PROTEIN 2; WBP2 Percent 606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET, INCLUDED;; COPD, SEVERE EARLY-ONSET, INCLUDED;; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN, INCLUDED Asterisk 606964 SERINE/THREONINE PROTEIN KINASE 38; STK38 NUCLEAR DBF2-RELATED PROTEIN; NDR;; NDR1 Asterisk 606965 FAS-ACTIVATED SERINE/THREONINE KINASE; FASTK FAST Number Sign 606966 NEPHRONOPHTHISIS 4; NPHP4 NEPHRONOPHTHISIS 4, JUVENILE Asterisk 606967 LECITHIN:CHOLESTEROL ACYLTRANSFERASE; LCAT Asterisk 606968 EUKARYOTIC ELONGATION FACTOR 2 KINASE; EEF2K CALMODULIN-DEPENDENT PROTEIN KINASE III Asterisk 606969 GEM-ASSOCIATED PROTEIN 4; GEMIN4 Caret 606970 MOVED TO 600669 Caret 606971 MOVED TO 607631 Percent 606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2; EIG2 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 14 Asterisk 606973 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 1; COG1 LOW DENSITY LIPOPROTEIN RECEPTOR DEFECT B-COMPLEMENTING PROTEIN; LDLB;; KIAA1381 Asterisk 606974 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 2; COG2 LOW DENSITY LIPOPROTEIN RECEPTOR DEFECT C-COMPLEMENTING PROTEIN; LDLC Asterisk 606975 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 3; COG3 SEC34, S. CEREVISIAE, HOMOLOG OF; SEC34 Asterisk 606976 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 4; COG4 COD1, S. CEREVISIAE, HOMOLOG OF; COD1 Asterisk 606977 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 6; COG6 KIAA1134;; COD2, S. CEREVISIAE, HOMOLOG OF; COD2 Asterisk 606978 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7; COG7 Asterisk 606979 COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8; COG8 DOR1, S. CEREVISIAE, HOMOLOG OF; DOR1 Asterisk 606980 COENZYME Q8A; COQ8A COQ8, S. CEREVISIAE, HOMOLOG OF; COQ8;; AARF DOMAIN-CONTAINING KINASE 3; ADCK3;; CHAPERONE-ACTIVITY OF BC1 COMPLEX-LIKE; CABC1 Asterisk 606981 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-2; GNG2 G PROTEIN GAMMA-2 SUBUNIT;; GUANINE NUCLEOTIDE-BINDING PROTEIN G(I)/G(O) Asterisk 606982 GERANYLGERANYL DIPHOSPHATE SYNTHASE 1; GGPS1 GGPPS; GGPPS1 Asterisk 606983 DIACYLGLYCEROL O-ACYLTRANSFERASE 2; DGAT2 ACYL-CoA:DIACYLGLYCEROL ACYLTRANSFERASE 2 Percent 606984 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2 FHHA2 Asterisk 606985 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 4; ELP4 ELONGATION PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;; PAX6 NEIGHBOR GENE; PAX6NEB CIS-REGULATORY ELEMENT SIMO, INCLUDED; SIMO, INCLUDED Caret 606986 MOVED TO 600716 Asterisk 606987 G PROTEIN-COUPLED RECEPTOR KINASE 7; GRK7 GPRK7 Asterisk 606988 CALCINEURIN-LIKE EF-HAND PROTEIN 1; CHP1 CALCINEURIN B HOMOLOGOUS PROTEIN;; CHP;; CALCIUM-BINDING PROTEIN P22;; SLC9A1 BINDING PROTEIN; SLC9A1BP Asterisk 606989 MYELOPEROXIDASE; MPO Asterisk 606990 COATOMER PROTEIN COMPLEX, SUBUNIT BETA-2; COPB2 BETA-2 COAT PROTEIN;; BETA-PRIME COP Asterisk 606991 INOSITOL HEXAPHOSPHATE KINASE 1; IHPK1 IP6K1;; KIAA0263 Asterisk 606992 INOSITOL HEXAPHOSPHATE KINASE 2; IHPK2 IP6K2 Asterisk 606993 INOSITOL HEXAPHOSPHATE KINASE 3; IHPK3 INSP6K3; IP6K3 Asterisk 606994 TYROSINE KINASE, NONRECEPTOR, 2; TNK2 ACTIVATED p21CDC42 KINASE; ACK; ACK1 Percent 606995 SENIOR-LOKEN SYNDROME 3; SLSN3 Number Sign 606996 SENIOR-LOKEN SYNDROME 4; SLSN4 Asterisk 606997 C1D NUCLEAR RECEPTOR COREPRESSOR; C1D NUCLEAR DNA-BINDING PROTEIN C1D;; SMALL UNIQUE NUCLEAR RECEPTOR COREPRESSOR; SUNCOR Asterisk 606998 FLOTILLIN 1; FLOT1 Asterisk 606999 GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT GALT/IL11RA SPLICED READ-THROUGH TRANSCRIPT, INCLUDED Asterisk 607000 MEDIATOR COMPLEX SUBUNIT 24; MED24 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 4; THRAP4;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 100-KD; TRAP100;; KIAA0130 Asterisk 607001 EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1 EUHMTASE1;; G9A-LIKE PROTEIN; GLP Asterisk 607002 PROKINETICIN 2; PROK2 PK2;; BV8 Asterisk 607003 THYMIC STROMAL LYMPHOPOIETIN; TSLP Percent 607004 BRACHYDACTYLY, TYPE A1, B; BDA1B Asterisk 607005 GEM-ASSOCIATED PROTEIN 5 GEMIN5 Asterisk 607006 GEM-ASSOCIATED PROTEIN 6; GEMIN6 Asterisk 607007 SNAP-ASSOCIATED PROTEIN; SNAPIN SNARE-ASSOCIATED PROTEIN SNAPIN; SNAPAP;; BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 7; BLOC1S7;; BLOC1, SUBUNIT 7; BLOS7 Asterisk 607008 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE; MCAD; MCADH Asterisk 607009 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6; TRPM6 CHANNEL KINASE 2; CHAK2;; MELASTATIN-RELATED TRP CATION CHANNEL 6 Asterisk 607010 DECAPPING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, A; DCP1A DCP1, S. CEREVISIAE, HOMOLOG OF, A;; SMAD4-INTERACTING TRANSCRIPTION FACTOR; SMIF Asterisk 607011 UBIQUITIN-SPECIFIC PROTEASE 17; USP17 Asterisk 607012 B-DOUBLE PRIME 1, SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR IIIB; BDP1 TRANSCRIPTION FACTOR-LIKE NUCLEAR REGULATOR; TFNR;; KIAA1689 Asterisk 607013 BRF2 SUBUNIT OF RNA POLYMERASE III TRANSCRIPTION INITIATION FACTOR; BRF2 BRFU;; TRANSCRIPTION FACTOR IIB-RELATED FACTOR; TFIIIB50 Number Sign 607014 HURLER SYNDROME MUCOPOLYSACCHARIDOSIS TYPE IH; MPS1-H Number Sign 607015 HURLER-SCHEIE SYNDROME MUCOPOLYSACCHARIDOSIS TYPE IH/S; MPS1-HS Number Sign 607016 SCHEIE SYNDROME MUCOPOLYSACCHARIDOSIS TYPE IS; MPS1-S;; MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY;; MPS V, FORMERLY; MPS5, FORMERLY Percent 607017 DEAFNESS, AUTOSOMAL DOMINANT 21; DFNA21 Asterisk 607018 ADHESION G PROTEIN-COUPLED RECEPTOR L2; ADGRL2 LATROPHILIN 2; LPHN2;; LATROPHILIN HOMOLOG 1; LPHH1;; CALCIUM-INDEPENDENT ALPHA-LATROTOXIN RECEPTOR 2; CIRL2; CL2;; LECTOMEDIN 1;; KIAA0786 Asterisk 607019 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 3; RASSF3 Asterisk 607020 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 5; RASSF5 NORE1, MOUSE, HOMOLOG OF; NORE1 REGULATOR FOR CELL ADHESION AND POLARIZATION ENRICHED IN LYMPHOID TISSUE, INCLUDED; RAPL, INCLUDED Asterisk 607021 SEZ6-LIKE PROTEIN; SEZ6L SEZ6L1;; BRAIN-SPECIFIC RECEPTOR-LIKE PROTEIN B; BSRPB Asterisk 607022 CCCTC-BINDING FACTOR-LIKE PROTEIN; CTCFL BROTHER OF THE REGULATOR OF IMPRINTED SITES; BORIS Asterisk 607023 POLO-LIKE KINASE 2; PLK2 SERUM-INDUCIBLE KINASE; SNK Asterisk 607024 DEBRANCHING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; DBR1 Asterisk 607025 MATERNAL EMBRYONIC LEUCINE ZIPPER KINASE; MELK KIAA0175;; HPK38 Asterisk 607026 NEURON NAVIGATOR 2; NAV2 RETINOIC ACID-INDUCIBLE GENE IN NEUROBLASTOMA 1; RAINB1;; PORE MEMBRANE- AND/OR FILAMENT-INTERACTING-LIKE PROTEIN 2; POMFIL2;; UNC53, C. ELEGANS, HOMOLOG OF, 2; UNC53H2;; KIAA1419 Asterisk 607027 ATPase, H+ TRANSPORTING, LYSOSOMAL, 70-KD, VI SUBUNIT A; ATP6V1A ATP6V1A1;; V-ATPase A SUBUNIT 1;; VACUOLAR PROTON PUMP, ALPHA SUBUNIT 1;; VA68 HO68, INCLUDED Asterisk 607028 ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 1; ATP6V0D1 VACUOLAR PROTON PUMP, V0 SUBUNIT D, ISOFORM 1;; V-ATPase, SUBUNIT D Asterisk 607029 VESICLE-ASSOCIATED MEMBRANE PROTEIN 5; VAMP5 MYOBREVIN Asterisk 607030 GRANCALCIN; GCA Asterisk 607031 LIPOIC ACID SYNTHASE; LIAS Asterisk 607032 SMG1, C. ELEGANS, HOMOLOG OF; SMG1 PI3-KINASE-RELATED KINASE SMG1;; LAMBDA/IOTA PROTEIN KINASE C-INTERACTING PROTEIN; LIP;; KIAA0421 Asterisk 607033 TRANSCRIPTION FACTOR B1, MITOCHONDRIAL; TFB1M MITOCHONDRIAL 12S rRNA DIMETHYLASE 1;; DIMETHYLADENOSINE TRANSFERASE 1, MITOCHONDRIAL;; CGI75;; mtTFB1 Caret 607034 MOVED TO 135700 Asterisk 607035 SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF; SUFU SUFUH SUFUXL, INCLUDED Asterisk 607036 ISOVALERYL-CoA DEHYDROGENASE; IVD Asterisk 607037 ENOYL-CoA HYDRATASE/3-HYDROXYACYL CoA DEHYDROGENASE; EHHADH L-BIFUNCTIONAL PROTEIN, PEROXISOMAL; LBFP; LBP Asterisk 607038 OTOANCORIN; OTOA Number Sign 607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 Asterisk 607040 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 8; MRP8 Asterisk 607041 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 12; ABCC12 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 9; MRP9 Asterisk 607042 CLN3 GENE; CLN3 BATTENIN Asterisk 607043 TRAF3-INTERACTING PROTEIN 2; TRAF3IP2 CHROMOSOME 6 OPEN READING FRAME 5; C6ORF5;; NUCLEAR FACTOR KAPPA-B ACTIVATOR 1; ACT1;; CONNECTION TO I-KAPPA-B KINASE AND STRESS-ACTIVATED PROTEIN KINASE; CIKS;; CHROMOSOME 6 OPEN READING FRAME 4; C6ORF4;; CHROMOSOME 6 OPEN READING FRAME 6; C6ORF6 NULL 607044 T-BOX 24 TBX24 Asterisk 607045 RHABDOMYOSARCOMA 2-ASSOCIATED TRANSCRIPT; RMST NONCODING RNA IN RHABDOMYOSARCOMA; NCRMS;; NONCODING RNA 54; NCRNA00054 Asterisk 607046 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF; TOMM22 TOM22 Asterisk 607047 ATAXIN 3; ATXN3 AT3;; MJD GENE; MJD1;; SCA3 GENE Asterisk 607048 START DOMAIN-CONTAINING PROTEIN 3; STARD3 METASTATIC LYMPH NODE 64; MLN64 Asterisk 607049 START DOMAIN-CONTAINING PROTEIN 4; STARD4 Asterisk 607050 START DOMAIN-CONTAINING PROTEIN 5; STARD5 Asterisk 607051 START DOMAIN-CONTAINING PROTEIN 6; STARD6 Asterisk 607052 TUMOR SUPPRESSOR CANDIDATE 2; TUSC2 FUS1 Percent 607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2; HDLCQ2 Asterisk 607054 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 3; PHLDA3 TDAG51/IPL HOMOLOG 1; TIH1 Asterisk 607055 TRANSCRIPTION FACTOR B2, MITOCHONDRIAL; TFB2M MITOCHONDRIAL 12S rRNA DIMETHYLASE 2;; DIMETHYLADENOSINE TRANSFERASE 2, MITOCHONDRIAL;; mtTFB2 Asterisk 607056 INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN 2; IMPG2 SPACRCAN;; IPM200 Asterisk 607057 UBIQUITIN-SPECIFIC PROTEASE 18; USP18 UBIQUITIN-SPECIFIC PROTEASE, 43-KD; UBP43;; INTERFERON-STIMULATED GENE, 43-KD; ISG43 Asterisk 607058 GAP JUNCTION PROTEIN, DELTA-2; GJD2 GAP JUNCTION PROTEIN, 36-KD;; CONNEXIN 36; CX36;; GAP JUNCTION PROTEIN, ALPHA-9, FORMERLY; GJA9, FORMERLY Asterisk 607059 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 4; SLC39A4 ZIP4 Number Sign 607060 PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8 Asterisk 607061 PROSTAGLANDIN E SYNTHASE 3; PTGES3 UNACTIVE PROGESTERONE RECEPTOR, 23-KD; P23;; PROSTAGLANDIN E SYNTHASE, CYTOSOLIC; CPGES Asterisk 607062 FK506-BINDING PROTEIN 7; FKBP7 FKBP23 Asterisk 607063 FK506-BINDING PROTEIN 10; FKBP10 FKBP65 Asterisk 607064 PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER 2; PCOLCE2 Asterisk 607065 GLUTAMINYL-PEPTIDE CYCLOTRANSFERASE; QPCT GLUTAMINYL CYCLASE; QC Asterisk 607066 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 3; TRPV3 VANILLOID RECEPTOR-LIKE PROTEIN 3; VRL3 Asterisk 607067 SAITOHIN STH Asterisk 607068 CYTOCHROME b561 DOMAIN-CONTAINING PROTEIN 2; CYB561D2 101F6 Asterisk 607069 PL6 GENE PL6 Asterisk 607070 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 10; ZMYND10 BLU Asterisk 607071 HYALURONOGLUCOSAMINIDASE 1; HYAL1 HYALURONIDASE 1 Asterisk 607072 NPR2-LIKE PROTEIN, GATOR1 COMPLEX SUBUNIT; NPRL2 NPR2, S. CEREVISIAE, HOMOLOG OF; NPR2;; NPR2L;; TUMOR SUPPRESSOR CANDIDATE 4; TUSC4 Asterisk 607073 FUS2 GENE FUS2 Asterisk 607074 PROTEIN KINASE D2; PRKD2 PKD2 Asterisk 607075 PDGFA-ASSOCIATED PROTEIN 1; PDAP1 PAP1; PAP Asterisk 607076 PROTEASE INHIBITOR 15; PI15 P25TI Asterisk 607077 PROTEIN KINASE C, NU; PRKCN PKC-NU Number Sign 607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5 MULTIPLE EPIPHYSEAL DYSPLASIA, MATN3-RELATED;; MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY; BHMED Asterisk 607079 RHESUS BLOOD GROUP, B GLYCOPROTEIN; RHBG Number Sign 607080 46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY Asterisk 607081 TAP-BINDING PROTEIN-LIKE; TAPBPL TAP-BINDING PROTEIN-RELATED PROTEIN; TAPBPR;; TAPBP-RELATED PROTEIN;; TAPASIN-RELATED PROTEIN Asterisk 607082 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 2; CACNA2D2 KIAA0558 Asterisk 607083 NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 3; NSD3 WHSC1L1 GENE; WHSC1L1 NSD3/NUP98 FUSION GENE, INCLUDED Number Sign 607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31 WHIRLER, MOUSE, HOMOLOG OF Percent 607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA MYAS1 Percent 607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1 FAA1;; ANNULOAORTIC ECTASIA;; AORTIC DISSECTION, FAMILIAL;; AORTIC ANEURYSM, FAMILIAL THORACIC;; ANEURYSM, THORACIC AORTIC ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED Percent 607087 AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2 FAA2 Percent 607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IV; HMN4;; DHMN4;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IV;; HMN IV;; NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE III; HMN3;; DHMN3;; HMN III Asterisk 607089 CYCLIN D-TYPE-BINDING PROTEIN 1; CCNDBP1 GRAP2 CYCLIN-D-INTERACTING PROTEIN; GCIP Asterisk 607090 SYF2, S. CEREVISIAE, HOMOLOG OF; SYF2 GCIP-INTERACTING PROTEIN P29; P29 Number Sign 607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D CDG IId; CDGIId Asterisk 607092 SPHINGOSINE KINASE 2; SPHK2 Asterisk 607093 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR Asterisk 607094 SUPPRESSOR OF CYTOKINE SIGNALING 5; SOCS5 CYTOKINE-INDUCIBLE SH2 PROTEIN 6; CIS6;; KIAA0671 Number Sign 607095 ANAUXETIC DYSPLASIA 1; ANXD1 ANAUXETIC DYSPLASIA; ANXD;; SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE;; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE;; SPONDYLOMETAEPIPHYSEAL DYSPLASIA, MENGER TYPE Asterisk 607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12 ORGANIC ANION TRANSPORTER 4-LIKE; OAT4L;; URATE TRANSPORTER 1; URAT1 Asterisk 607097 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 11 SLC22A11;; ORGANIC ANION TRANSPORTER 4; OAT4 Asterisk 607098 ENOLASE ALPHA, LUNG-SPECIFIC; ENO1B HUMAN LUNG ENOLASE; HLE1 Asterisk 607099 MBD2-INTERACTING ZINC FINGER PROTEIN; MIZF Asterisk 607100 NEPHROCYSTIN 1; NPHP1 NPH1 Number Sign 607101 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30 Asterisk 607102 WT1 GENE; WT1 WT1/EWS FUSION GENE, INCLUDED Asterisk 607103 ARGINYLTRANSFERASE 1; ATE1 Asterisk 607104 TANKYRASE 1-BINDING PROTEIN 1; TNKS1BP1 TANKYRASE 1-BINDING PROTEIN, 182-KD;; TAB182;; KIAA1741 Asterisk 607105 NADPH OXIDASE 3; NOX3 GP91-3 Asterisk 607106 MINOR HISTOCOMPATIBILITY 13; HM13 HISTOCOMPATIBILITY 13;; SIGNAL PEPTIDE PEPTIDASE; SPP;; INTRAMEMBRANE PROTEASE 1; IMP1 Percent 607107 NASOPHARYNGEAL CARCINOMA NPCA;; NPC;; NASOPHARYNGEAL CANCER NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 1, INCLUDED; NPCA1, INCLUDED Asterisk 607108 PAIRED BOX GENE 6; PAX6 Asterisk 607109 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3A; APOBEC3A PHORBOLIN 1 Asterisk 607110 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B; APOBEC3B PHORBOLIN 1-RELATED PROTEIN Asterisk 607111 SPARTIN; SPART SPG20;; KIAA0610 Asterisk 607112 F-BOX ONLY PROTEIN 2; FBXO2 FBX2;; FBG1;; NEURAL F-BOX PROTEIN, 42-KD, RAT, HOMOLOG OF; NFB42 Asterisk 607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G; APOBEC3G PHORBOLIN-LIKE PROTEIN MDS019; MDS019;; CEM15;; dJ494G10.1;; FLJ12740;; bK150C2.7 Asterisk 607114 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 33; ADAM33 Number Sign 607115 CINCA SYNDROME; CINCA CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME;; MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL-ONSET; NOMID;; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3; CAPS3 Percent 607116 ALZHEIMER DISEASE 8 ALZHEIMER DISEASE, FAMILIAL, 8;; AD8 Asterisk 607117 MCPH1 GENE; MCPH1 MICROCEPHALIN;; BRCT-REPEAT INHIBITOR OF TERT EXPRESSION 1; BRIT1 Asterisk 607118 MITOCHONDRIAL RIBOSOMAL PROTEIN L3; MRPL3 MRL3 Asterisk 607119 DOUBLE RING FINGER PROTEIN DORFIN Asterisk 607120 PHOSPHOLIPASE C, BETA-1; PLCB1 KIAA0581 PLCB1A, INCLUDED;; PLCB1B, INCLUDED Caret 607121 MOVED TO 605569 Asterisk 607122 PROKINETICIN RECEPTOR 1; PROKR1 PKR1;; G PROTEIN-COUPLED RECEPTOR 73; GPR73 Asterisk 607123 PROKINETICIN RECEPTOR 2; PROKR2 PKR2;; G PROTEIN-COUPLED RECEPTOR 73-LIKE 1; GPR73L1 Asterisk 607124 PHOSPHOLIPID PHOSPHATASE 1; PLPP1 PHOSPHATIDIC ACID PHOSPHATASE TYPE 2A; PPAP2A; PAP2A Asterisk 607125 PHOSPHOLIPID PHOSPHATASE 3; PLPP3 PHOSPHATIDIC ACID PHOSPHATASE TYPE 2B; PPAP2B; PAP2B Asterisk 607126 PHOSPHOLIPID PHOSPHATASE 2; PLPP2 PHOSPHATIDIC ACID PHOSPHATASE TYPE 2C; PPAP2C; PAP2C Asterisk 607127 ELKS/RAB6-INTERACTING/CAST FAMILY, MEMBER 1; ERC1 RAB6-INTERACTING PROTEIN 2; RAB6IP2;; ELKS GENE; ELKS;; KIAA1081 ELKS/RET FUSION GENE, INCLUDED Asterisk 607128 TRF1-INTERACTING ANKYRIN-RELATED ADP-RIBOSE POLYMERASE 2; TNKS2 TANKYRASE 2; TANK2;; TNKL Asterisk 607129 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 1; MICAL1 MOLECULE INTERACTING WITH CASL; MICAL;; NEDD9-INTERACTING PROTEIN WITH CALPONIN HOMOLOGY AND LIM DOMAINS; NICAL Asterisk 607130 REGULATORY ASSOCIATED PROTEIN OF MTOR; RPTOR RAPTOR;; KIAA1303 Number Sign 607131 AL-GAZALI-BAKALINOVA SYNDROME; AGBK MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES; MMEDF NULL 607132 LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES LEL Caret 607133 MOVED TO 601547 Percent 607134 SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3 SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13 Percent 607135 CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS CRCL Number Sign 607136 SPINOCEREBELLAR ATAXIA 17; SCA17 HUNTINGTON DISEASE-LIKE 4; HDL4 Asterisk 607137 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN D-LIKE PROTEIN; HNRNPDL HNRPDL;; HNRPD-LIKE PROTEIN;; AU-RICH ELEMENT RNA-BINDING FACTOR;; JKTBP Asterisk 607138 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 4; CREB3L4 cAMP RESPONSE ELEMENT-BINDING PROTEIN 4; CREB4;; ANDROGEN-INDUCED BASIC LEUCINE ZIPPER PROTEIN; AIBZIP Asterisk 607139 FANCA GENE; FANCA FACA; FAA Number Sign 607140 ANGIOID STREAKS Asterisk 607141 GLIOMA PATHOGENESIS-RELATED PROTEIN 2; GLIPR2 GOLGI-ASSOCIATED PR1 PROTEIN; GAPR1;; CHROMOSOME 9 OPEN READING FRAME 19; C9ORF19 Caret 607142 MOVED TO 602617 Number Sign 607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G CDG Ig; CDGIg Asterisk 607144 ALG12, S. CEREVISIAE, HOMOLOG OF; ALG12 ASPARAGINE-LINKED GLYCOSYLATION 12, HOMOLOG OF;; DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE Asterisk 607145 DYSTROBREVIN-BINDING PROTEIN 1; DTNBP1 DYSBINDIN;; SANDY, MOUSE, HOMOLOG OF; SDY;; HPS7 GENE; HPS7;; BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 8; BLOC1S8;; BLOC1, SUBUNIT 8; BLOS8 Asterisk 607146 PDZ DOMAIN-CONTAINING 3; PDZD3 INTESTINE- AND KIDNEY-ENRICHED PDZ PROTEIN; IKEPP Asterisk 607147 NECTIN 3; NECTIN3 POLIOVIRUS RECEPTOR-LIKE 3; PVRL3;; POLIOVIRUS RECEPTOR-RELATED 3; PVRR3; PRR3 Caret 607148 MOVED TO 300417 Asterisk 607149 RNA EXONUCLEASE 2, S. CEREVISIAE, HOMOLOG OF; REXO2 REX2, S. CEREVISIAE, HOMOLOG OF; REX2;; SMALL FRAGMENT NUCLEASE; SFN Asterisk 607150 FIFTH EWING SARCOMA VARIANT; FEV PET1 FEV/EWS FUSION GENE, INCLUDED Number Sign 607151 MOYAMOYA DISEASE 2; MYMY2 Percent 607152 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19 Asterisk 607153 INTEGRIN, BETA-1, BINDING PROTEIN OF, 1; ITGB1BP1 INTEGRIN CYTOPLASMIC DOMAIN-ASSOCIATED PROTEIN 1; ICAP1 ICAP1A, INCLUDED;; ICAP1B, INCLUDED Number Sign 607154 ALLERGIC RHINITIS ALRH Number Sign 607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 9; LGMDR9;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED Asterisk 607156 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 6; ST3GAL6 ALPHA-2,3-SIALYLTRANSFERASE VI; ST3GALVI Asterisk 607157 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 11; SIGLEC11 Asterisk 607158 VENT HOMEOBOX; VENTX VENT-LIKE HOMEOBOX 2; VENTX2;; HPX42B Asterisk 607159 ZINC FINGER MIZ-DOMAIN CONTAINING 1; ZMIZ1 RETINOIC ACID-INDUCED GENE 17; RAI17;; KIAA1224;; ZIMP10 Asterisk 607160 ATPase, H+ TRANSPORTING, LYSOSOMAL, 14-KD, V1 SUBUNIT F; ATP6V1F VACUOLAR ATPase, 14-KD SUBUNIT NULL 607161 MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL Asterisk 607162 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 5; ST8SIA5 ALPHA-2,8-SIALYLTRANSFERASE V;; ST8SIA V;; SIALYLTRANSFERASE 8E; SIAT8E Asterisk 607163 LYSYL OXIDASE-LIKE 3; LOXL3 Asterisk 607164 LADY BIRD-LIKE HOMEOBOX 2; LBX2 LADY BIRD LATE, DROSOPHILA, HOMOLOG OF, 2 Asterisk 607165 SERINE INCORPORATOR 3; SERINC3 TUMOR DIFFERENTIALLY EXPRESSED 1; TDE1;; TMS1 Asterisk 607166 TESTIS-SPECIFIC PROTEIN 10; TSGA10 Asterisk 607167 DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 1; DYNLRB1 DYNEIN, CYTOPLASMIC, LIGHT CHAIN 2A; DNCL2A; DNLC2A Asterisk 607168 DYNEIN, LIGHT CHAIN, ROADBLOCK TYPE, 2; DYNLRB2 DYNEIN, LIGHT CHAIN 2B; DNLC2B Asterisk 607169 PROTEASE, SERINE, 16; PRSS16 THYMUS-SPECIFIC SERINE PROTEASE; TSSP Asterisk 607170 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 1; CRELD1 CIRRIN Asterisk 607171 CYSTEINE-RICH PROTEIN WITH EGF-LIKE DOMAINS 2 CRELD2 Asterisk 607172 SERINE/THREONINE KINASE 11-INTERACTING PROTEIN; STK11IP LKB1-INTERACTING PROTEIN 1; LIP1;; KIAA1898 Asterisk 607173 PROTEASOME 26S SUBUNIT, NON-ATPase, 14; PSMD14 PAD1, YEAST, HOMOLOG OF;; 26S PROTEASOME-ASSOCIATED PAD1 HOMOLOG; POH1 Number Sign 607174 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO Asterisk 607175 DUAL-SPECIFICITY PHOSPHATASE 16; DUSP16 MAP KINASE PHOSPHATASE 7; MKP7;; KIAA1700 Asterisk 607176 CALNEURON 1; CALN1 Asterisk 607177 IMMEDIATE-EARLY RESPONSE GENE 5; IER5 Asterisk 607178 PDZK1-INTERACTING PROTEIN 1; PDZK1IP1 MEMBRANE-ASSOCIATED PROTEIN 17; MAP17;; DD96 Asterisk 607179 RNA-BINDING MOTIF PROTEIN 12; RBM12 KIAA0765 Asterisk 607180 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 2; LRRC2 Asterisk 607181 RECEPTOR-TRANSPORTING PROTEIN 3; RTP3 TRANSMEMBRANE PROTEIN 7; TMEM7 Asterisk 607182 FYVE AND COILED-COIL DOMAIN CONTAINING 1; FYCO1 Asterisk 607183 SEC24-RELATED GENE FAMILY, MEMBER A; SEC24A Asterisk 607184 SEC24-RELATED GENE FAMILY, MEMBER B; SEC24B Asterisk 607185 SEC24-RELATED GENE FAMILY, MEMBER C; SEC24C KIAA0079 Asterisk 607186 SEC24-RELATED GENE FAMILY, MEMBER D; SEC24D KIAA0755 Asterisk 607187 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 1; ST3GAL1 SIALYLTRANSFERASE 4A; SIAT4A;; ST3O Asterisk 607188 ST3 BETA-GALACTOSIDE ALPHA-2,3-SIALYLTRANSFERASE 2; ST3GAL2 SIALYLTRANSFERASE 4B; SIAT4B Asterisk 607189 REGULATOR OF G PROTEIN SIGNALING 8; RGS8 Asterisk 607190 REGULATOR OF G PROTEIN SIGNALING 13; RGS13 Asterisk 607191 REGULATOR OF G PROTEIN SIGNALING 17; RGS17 RGSZ2 Asterisk 607192 REGULATOR OF G PROTEIN SIGNALING 18; RGS18 Asterisk 607193 REGULATOR OF G PROTEIN SIGNALING 20; RGS20 RGSZ1 ISOFORM, INCLUDED;; RET-RGS ISOFORM, INCLUDED Asterisk 607194 PANCREAS TRANSCRIPTION FACTOR 1, ALPHA SUBUNIT; PTF1A PTF1-p48 Caret 607195 MOVED TO 128230 Number Sign 607196 MICROCEPHALY, AMISH TYPE; MCPHA AMISH LETHAL MICROCEPHALY;; THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE); THMD3 NULL 607197 DEAFNESS, AUTOSOMAL RECESSIVE Asterisk 607198 TYROSYL-DNA PHOSPHODIESTERASE 1; TDP1 Asterisk 607199 INTERFERON REGULATORY FACTOR 6; IRF6 Number Sign 607200 THYROID DYSHORMONOGENESIS 6; TDH6 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6;; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6 Asterisk 607201 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN R; HNRNPR HNRPR Percent 607202 CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 5;; GSES Asterisk 607203 SALVADOR, DROSOPHILA, HOMOLOG OF; SAV1 SAV;; WW DOMAIN-CONTAINING PROTEIN, 45-KD; WW45 Asterisk 607204 PUMILIO, DROSOPHILA, HOMOLOG OF, 1; PUM1 KIAA0099 Asterisk 607205 PUMILIO, DROSOPHILA, HOMOLOG OF, 2; PUM2 KIAA0235 Asterisk 607206 ARACHIDONATE LIPOXYGENASE 3; ALOXE3 LOX TYPE 3;; LIPOXYGENASE TYPE 3, EPIDERMAL Asterisk 607207 STIP1 HOMOLOGOUS AND U BOX-CONTAINING PROTEIN 1; STUB1 C TERMINUS OF HSC70-INTERACTING PROTEIN; CHIP Number Sign 607208 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6 DRAVET SYNDROME;; SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI Asterisk 607209 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 10; CARD10 CARD-MAGUK PROTEIN 3; CARMA3;; BCL10-INTERACTING MAGUK PROTEIN 1; BIMP1 Asterisk 607210 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 11; CARD11 CARD-MAGUK PROTEIN 1; CARMA1;; BCL10-INTERACTING MAGUK PROTEIN 3; BIMP3 Asterisk 607211 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 14; CARD14 CARD-MAGUK PROTEIN 2; CARMA2;; BCL10-INTERACTING MAGUK PROTEIN 2; BIMP2 Asterisk 607212 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9 Asterisk 607213 ORIGIN RECOGNITION COMPLEX, SUBUNIT 6, S. CEREVISIAE, HOMOLOG OF; ORC6 ORC6-LIKE; ORC6L NULL 607214 ANONYCHIA, TOTAL, WITH MICROCEPHALY Asterisk 607215 NEPHROCYSTIN 4; NPHP4 KIAA0673;; NEPHRORETININ Asterisk 607216 SIDEKICK, DROSOPHILA, HOMOLOG OF, 1; SDK1 Asterisk 607217 SIDEKICK, DROSOPHILA, HOMOLOG OF, 2; SDK2 KIAA1514 Asterisk 607218 INTERFERON REGULATORY FACTOR 5; IRF5 Asterisk 607219 CONTACTIN 5; CNTN5 NB2 Asterisk 607220 CONTACTIN 6; CNTN6 NB3 Percent 607221 EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES; PEPS EPPS Asterisk 607222 F-BOX ONLY PROTEIN 18; FBXO18 F-BOX DNA HELICASE 1; FBH1 Asterisk 607223 SPARC-RELATED MODULAR CALCIUM-BINDING PROTEIN 2; SMOC2 SECRETED MODULAR CALCIUM-BINDING PROTEIN 2;; SMOOTH MUSCLE-ASSOCIATED PROTEIN 2; SMAP2 Asterisk 607224 ORAL CANCER OVEREXPRESSED GENE 1; ORAOV1 TUMOR AMPLIFIED AND OVEREXPRESSED SEQUENCE 1; TAOS1 Number Sign 607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP Asterisk 607226 HISTONE DEACETYLASE 11; HDAC11 Asterisk 607227 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X1; MRGPRX1 MRGX1 Asterisk 607228 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X2; MRGPRX2 MRGX2 Asterisk 607229 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X3; MRGPRX3 MRGX3 Asterisk 607230 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER X4; MRGPRX4 MRGX4 Asterisk 607231 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER D; MRGPRD MRGD Asterisk 607232 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER E; MRGPRE MRGE Asterisk 607233 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER F; MRGPRF MRGF;; RAT THORACIC ARTERY PROTEIN, HOMOLOG OF; RTA Asterisk 607234 MAS-RELATED G PROTEIN-COUPLED RECEPTOR FAMILY, MEMBER G; MRGPRG MRGG Asterisk 607235 MAS1 ONCOGENE-LIKE; MAS1L MRG Number Sign 607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION HARP SYNDROME Asterisk 607237 TRANSMEMBRANE INNER EAR-EXPRESSED GENE; TMIE Asterisk 607238 COMM DOMAIN-CONTAINING PROTEIN 1; COMMD1 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 1;; COPPER METABOLISM GENE MURR1; MURR1 Percent 607239 DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33 Asterisk 607240 SET DOMAIN-CONTAINING PROTEIN 8; SETD8 SET8;; PR/SET DOMAIN-CONTAINING PROTEIN 7; PR/SET7;; PR/SET07;; HISTONE H4-LYSINE 20-SPECIFIC METHYLTRANSFERASE Asterisk 607241 CHROMOSOME 4 OPEN READING FRAME 7; C4ORF7 FOLLICULAR DENDRITIC CELL SECRETED PEPTIDE; FDCSP Asterisk 607242 ADAPTOR-RELATED PROTEIN COMPLEX 2, ALPHA-2 SUBUNIT; AP2A2 KIAA0899 Asterisk 607243 ADAPTOR-RELATED PROTEIN COMPLEX 4, SIGMA-1 SUBUNIT; AP4S1 Asterisk 607244 ADAPTOR-RELATED PROTEIN COMPLEX 4, EPSILON-1 SUBUNIT; AP4E1 Asterisk 607245 ADAPTOR-RELATED PROTEIN COMPLEX 4, BETA-1 SUBUNIT; AP4B1 Asterisk 607246 ADAPTOR-RELATED PROTEIN COMPLEX 3, DELTA-1 SUBUNIT; AP3D1 ADAPTIN, DELTA;; GARNET, DROSOPHILA, HOMOLOG OF;; MOCHA, MOUSE, HOMOLOG OF Asterisk 607247 CHONDROLECTIN; CHODL Percent 607248 GLIOMA SUSCEPTIBILITY 4; GLM4 Asterisk 607249 CATION CHANNEL, SPERM-ASSOCIATED, 2; CATSPER2 Number Sign 607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1; SCAN1 Asterisk 607251 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 22, YEAST, HOMOLOG OF; TIMM22 TIM22 Asterisk 607252 APOLIPOPROTEIN L-II; APOL2 APOL-II Asterisk 607253 APOLIPOPROTEIN L-III; APOL3 APOL-III Asterisk 607254 APOLIPOPROTEIN L-IV; APOL4 APOL-IV Asterisk 607255 APOLIPOPROTEIN L-V; APOL5 APOL-V Asterisk 607256 APOLIPOPROTEIN L-VI; APOL6 APOL-VI Asterisk 607257 SRY-BOX 6; SOX6 Percent 607258 HYPERCALCIURIA, ABSORPTIVE, 1 HCA1 Number Sign 607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 Asterisk 607260 PLACENTAL PROTEIN 13-LIKE PROTEIN PPL13 Asterisk 607261 EVC2 GENE; EVC2 LIMBIN; LBN Asterisk 607262 EPSIN 1; EPN1 EPSIN Asterisk 607263 EPSIN 2; EPN2 KIAA1065 Asterisk 607264 EPSIN 3; EPN3 Asterisk 607265 CLATHRIN INTERACTOR 1; CLINT1 EPSIN 4; EPN4;; EPSIN-RELATED PROTEIN; EPNR;; ENTHOPROTIN;; KIAA0171 Caret 607266 MOVED TO 608048 Asterisk 607267 POLYMERASE, DNA, EPSILON-3; POLE3 POLYMERASE, DNA, EPSILON, 17-KD SUBUNIT;; CHROMATIN ACCESSIBILITY COMPLEX, 17-KD SUBUNIT; CHRAC17;; NFYB-LIKE PROTEIN 1; YBL1 Asterisk 607268 CHROMATIN ACCESSIBILITY COMPLEX, SUBUNIT 1; CHRAC1 CHROMATIN ACCESSIBILITY COMPLEX, 15-KD SUBUNIT; CHRAC15;; NFYC-LIKE PROTEIN 1; YCL1 Asterisk 607269 POLYMERASE, DNA, EPSILON-4; POLE4 POLYMERASE, DNA, EPSILON, 12-KD SUBUNIT Asterisk 607270 KIAA0442 GENE; KIAA0442 AUTISM SUSCEPTIBILITY CANDIDATE 2; AUTS2 Number Sign 607271 CASPASE 8 DEFICIENCY CEDS;; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB; ALPS2B Asterisk 607272 NDC80, S. CEREVISIAE, HOMOLOG OF; NDC80 KINETOCHORE-ASSOCIATED PROTEIN 2; KNTC2;; HIGHLY EXPRESSED IN CANCER; HEC;; HEC1 Asterisk 607273 FOLLICULIN; FLCN FLCL;; BHD GENE; BHD Asterisk 607274 UBIQUITIN-SPECIFIC PROTEASE 14; USP14 tRNA-GUANINE TRANSGLYCOSYLASE, 60-KD SUBUNIT;; TGT, 60-KD SUBUNIT Asterisk 607275 HOP HOMEOBOX; HOPX HOMEODOMAIN-ONLY PROTEIN; HOP Number Sign 607276 RESTING HEART RATE, VARIATION IN RHR Number Sign 607277 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 ASRT1;; AS1 Number Sign 607278 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO; OSFD OFD;; TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM Percent 607279 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1; SLEH1 SYSTEMIC LUPUS ERYTHEMATOSUS, HEMOLYTIC ANEMIA-RELATED Asterisk 607280 CONTACTIN 4; CNTN4 BIG2, RAT, HOMOLOG OF; BIG2 Asterisk 607281 LSM1 PROTEIN; LSM1 CANCER-ASSOCIATED SM-LIKE PROTEIN; CASM Asterisk 607282 LSM2 PROTEIN; LSM2 CHROMOSOME 6 OPEN READING FRAME 28; C6ORF28 Asterisk 607283 LSM3 PROTEIN; LSM3 Asterisk 607284 LSM4 PROTEIN; LSM4 Asterisk 607285 LSM5 PROTEIN; LSM5 Asterisk 607286 LSM6 PROTEIN; LSM6 Asterisk 607287 LSM7 PROTEIN; LSM7 Asterisk 607288 LSM8 PROTEIN; LSM8 Asterisk 607289 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 5; BLOC1S5 BLOC1, SUBUNIT 5; BLOS5;; MUTED, MOUSE, HOMOLOG OF; MUTED Asterisk 607290 SHISA FAMILY, MEMBER 5; SHISA5 SCOTIN Asterisk 607291 ADAPTOR-RELATED PROTEIN COMPLEX 1 GAMMA SUBUNIT-BINDING PROTEIN 1; AP1GBP1 AP1 GAMMA SUBUNIT-BINDING PROTEIN 1;; SYNERGIN, GAMMA; SYNG Asterisk 607292 SEMAPHORIN 4A; SEMA4A SEMAPHORIN B; SEMAB; SEMB Asterisk 607293 CHLORIDE INTRACELLULAR CHANNEL 5; CLIC5 Asterisk 607294 TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2; TGIF2 TGFB-INDUCED FACTOR 2 Asterisk 607295 MYOSIN XVIIIB; MYO18B Asterisk 607296 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 1; ATP6V1G1 ATP6G1 Asterisk 607297 NERVE INJURY-INDUCED PROTEIN 2; NINJ2 NINJURIN 2 Asterisk 607298 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-13; GNG13 Asterisk 607299 DELTA- AND NOTCH-LIKE EPIDERMAL GROWTH FACTOR-RELATED RECEPTOR; DNER DELTA- AND NOTCH-LIKE EGF-RELATED RECEPTOR Asterisk 607300 PRECURSOR mRNA-PROCESSING FACTOR 8, S. CEREVISIAE, HOMOLOG OF; PRPF8 PRP8;; PRPC8;; U5 snRNP-SPECIFIC PROTEIN, 220-KD Asterisk 607301 PRECURSOR mRNA-PROCESSING FACTOR 3, S. CEREVISIAE, HOMOLOG OF; PRPF3 PRP3;; HPRP3 Caret 607302 MOVED TO 116960 Asterisk 607303 MORTALITY FACTOR 4-LIKE PROTEIN 1; MORF4L1 MORF4-LIKE PROTEIN 1;; MORF-RELATED GENE 15; MRG15 Percent 607304 CATARACT 27; CTRCT27 CATARACT 27, NUCLEAR PROGRESSIVE;; CCNP Asterisk 607305 MDS2 GENE MDS2 MDS2/ETV6 FUSION GENE, INCLUDED Asterisk 607306 STEROID 5-ALPHA-REDUCTASE 2; SRD5A2 Asterisk 607307 FILAMIN A-INTERACTING PROTEIN 1; FILIP1 FILIP;; KIAA1275 Percent 607308 MAMMOGRAPHIC DENSITY Asterisk 607309 ADAPTOR-RELATED PROTEIN COMPLEX 1, MU-2 SUBUNIT; AP1M2 MU-1B Asterisk 607310 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 7; ADAM7 Asterisk 607311 PROGESTERONE RECEPTOR; PGR PR;; NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 3; NR3C3 Asterisk 607312 ZINC FINGER CCCH DOMAIN-CONTAINING ANTIVIRAL PROTEIN 1; ZC3HAV1 ZINC FINGER ANTIVIRAL PROTEIN; ZAP Number Sign 607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1; HGPPS1 HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED Asterisk 607314 CALCIUM-BINDING PROTEIN 2; CABP2 Asterisk 607315 CALCIUM-BINDING PROTEIN 5; CABP5 CALCIUM-BINDING PROTEIN 3; CABP3 Caret 607316 MOVED TO 607315 Number Sign 607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4 SPINOCEREBELLAR ATAXIA WITH SACCADIC INTRUSIONS; SCASI;; SPINOCEREBELLAR ATAXIA 24, FORMERLY; SCA24, FORMERLY Asterisk 607318 LYSYL OXIDASE-LIKE 4; LOXL4 LOXC Asterisk 607319 SCM-LIKE PROTEIN WITH 4 MBT DOMAINS 1; SFMBT1 SFMBT;; RENAL UBIQUITOUS PROTEIN 1; RU1 Asterisk 607320 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 4; RASGRP4 Asterisk 607321 ATPase, Na+/K+ TRANSPORTING, ALPHA-4 POLYPEPTIDE; ATP1A4 SODIUM-POTASSIUM-ATPase, ALPHA-4 POLYPEPTIDE;; Na,K-ATPase, ALPHA-D POLYPEPTIDE;; ATPase, Na+/K+ TRANSPORTING, ALPHA POLYPEPTIDE-LIKE 2; ATP1AL2 Caret 607322 MOVED TO 143470 Number Sign 607323 DUANE-RADIAL RAY SYNDROME; DRRS OKIHIRO SYNDROME;; DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS;; DR SYNDROME;; ACRORENOOCULAR SYNDROME Percent 607324 POLYDACTYLY, POSTAXIAL, TYPE A3; PAPA3 POSTAXIAL POLYDACTYLY, TYPE A3 Asterisk 607325 DEDICATOR OF CYTOKINESIS 9; DOCK9 ZIZIMIN 1; ZIZ1;; KIAA1058 Number Sign 607326 SMITH-MCCORT DYSPLASIA 1; SMC1 SMC Asterisk 607327 MUSCLEBLIND-LIKE SPLICING REGULATOR 2; MBNL2 MUSCLEBLIND-LIKE PROTEIN 2;; MUSCLEBLIND-LIKE PROTEIN-LIKE; MBLL Asterisk 607328 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 1; HEXIM1 CARDIAC LINEAGE PROTEIN 1; CLP1;; HIS1;; MENAGE A QUATRE 1; MAQ1 Percent 607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3 HYT3 Number Sign 607330 LATHOSTEROLOSIS STEROL C5-DESATURASE DEFICIENCY;; SC5D DEFICIENCY Asterisk 607331 RP9 GENE; RP9 PIM1-ASSOCIATED PROTEIN, MOUSE, HOMOLOG OF; PAP1 Asterisk 607332 CHROMOSOME 5 OPEN READING FRAME 13; C5ORF13 3.1 GENE;; P311;; PTZ17;; D4S114 Asterisk 607333 STE20-RELATED KINASE ADAPTOR BETA; STRADB ILP-INTERACTING PROTEIN; ILPIP;; ALS2 CHROMOSOME REGION GENE 2; ALS2CR2 Asterisk 607334 TRAFFICKING PROTEIN, KINESIN-BINDING 2; TRAK2 GAMMA-AMINOBUTYRIC ACID RECEPTOR-INTERACTING FACTOR 1; GRIF1;; GABA-A RECEPTOR-INTERACTING FACTOR 1;; ALS2 CHROMOSOME REGION GENE 3; ALS2CR3;; OGT-INTERACTING PROTEIN, 98-KD; OIP98;; KIAA0549 Asterisk 607335 BESTROPHIN 2; BEST2 VMD2-LIKE GENE 1; VMD2L1 Asterisk 607336 BESTROPHIN 4; BEST4 VMD2-LIKE GENE 2; VMD2L2 Asterisk 607337 BESTROPHIN 3; BEST3 VMD2-LIKE GENE 3; VMD2L3 Asterisk 607338 LEPTIN RECEPTOR OVERLAPPING TRANSCRIPT-LIKE 1; LEPROTL1 Percent 607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 CHDS1 Asterisk 607340 GAMMA-AMINOBUTYRIC ACID B RECEPTOR 2; GABBR2 G PROTEIN-COUPLED RECEPTOR 51; GPR51;; GABA-B RECEPTOR, R2 SUBUNIT; GABABR2 Number Sign 607341 FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2 CORTICAL DYSPLASIA OF TAYLOR; CDT;; FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT;; FCD2 FOCAL CORTICAL DYSPLASIA, TYPE IIA, INCLUDED; FCORD2A, INCLUDED;; FCD IIA, INCLUDED;; CORTICAL DYSPLASIA OF TAYLOR WITHOUT BALLOON CELLS, INCLUDED;; CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY, INCLUDED; CDTD, INCLUDED;; FOCAL CORTICAL DYSPLASIA, TYPE IIB, INCLUDED; FCORD2B, INCLUDED;; FCD IIB, INCLUDED;; CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS, INCLUDED; CDTBC, INCLUDED Asterisk 607342 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 1; CPEB1 CPEB Asterisk 607343 SAL-LIKE 4; SALL4 HSAL4 Asterisk 607344 TUBULIN, DELTA-1; TUBD1 TUBD Asterisk 607345 TUBULIN, EPSILON-1; TUBE1 TUBULIN, EPSILON; TUBE Number Sign 607346 SPINOCEREBELLAR ATAXIA 19; SCA19 SPINOCEREBELLAR ATAXIA 22; SCA22 Asterisk 607347 ALPHA KINASE 1; ALPK1 LYMPHOCYTE ALPHA KINASE; LAK;; KIAA1527 Asterisk 607348 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 5; HES5 Asterisk 607349 TALIN 2; TLN2 KIAA0320 Asterisk 607350 KINESIN FAMILY MEMBER 13B; KIF13B GUANYLATE KINASE-ASSOCIATED KINESIN; GAKIN;; KIAA0639 Asterisk 607351 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 1; RHOBTB1 KIAA0740 Asterisk 607352 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 2; RHOBTB2 DELETED IN BREAST CANCER 2; DBC2;; KIAA0717 Asterisk 607353 RHO-RELATED BTB DOMAIN-CONTAINING PROTEIN 3; RHOBTB3 KIAA0878 Percent 607354 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2; IS2 Asterisk 607355 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 3; EIF2C3 ARGONAUTE 3; AGO3 Asterisk 607356 EUKARYOTIC TRANSLATION INITIATION FACTOR 2C, SUBUNIT 4; EIF2C4 ARGONAUTE 4; AGO4;; KIAA1567 Asterisk 607357 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 5; KCNQ5 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY Q, MEMBER 5 Asterisk 607358 AUTOIMMUNE REGULATOR; AIRE Asterisk 607359 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 2; CCAR2 DELETED IN BREAST CANCER 1; DBC1;; KIAA1967 GENE; KIAA1967 Asterisk 607360 LACRITIN; LACRT Number Sign 607361 MECKEL SYNDROME, TYPE 3; MKS3 MECKEL-GRUBER SYNDROME, TYPE 3 Asterisk 607362 RGM DOMAIN FAMILY, MEMBER A; RGMA REPULSIVE GUIDANCE MOLECULE; RGM Asterisk 607363 KINETOCHORE-ASSOCIATED PROTEIN 1; KNTC1 ROUGH DEAL, DROSOPHILA, HOMOLOG OF; ROD;; KIAA0166 Number Sign 607364 BARTTER SYNDROME, TYPE 3; BARTS3 BARTTER SYNDROME, CLASSIC BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED Asterisk 607365 LIPASE H; LIPH MEMBRANE-ASSOCIATED PHOSPHATIDIC ACID-SELECTIVE PHOSPHOLIPASE A1; MPAPLA1;; PHOSPHOLIPASE A1, PHOSPHATIDIC ACID-SELECTIVE, MEMBRANE-ASSOCIATED;; LPD LIPASE-RELATED PROTEIN; LPDLR Asterisk 607366 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 12; KCNK12 TANDEM PORE DOMAIN HALOTHANE-INHIBITED POTASSIUM CHANNEL 2; THIK2 Asterisk 607367 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 13; KCNK13 TANDEM PORE DOMAIN HALOTHANE-INHIBITED POTASSIUM CHANNEL 1; THIK1 Asterisk 607368 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 15; KCNK15 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 5; TASK5 Asterisk 607369 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 16; KCNK16 TWIK-RELATED ALKALINE pH-ACTIVATED K+ CHANNEL 1; TALK1 Asterisk 607370 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 17; KCNK17 TWIK-RELATED ACID-SENSITIVE K+ CHANNEL 4; TASK4;; TWIK-RELATED ALKALINE pH-ACTIVATED K+ CHANNEL 2; TALK2 Number Sign 607371 DYSTONIA, JUVENILE-ONSET; DJO Asterisk 607372 MEDIATOR COMPLEX SUBUNIT 15; MED15 PC2 GLUTAMINE/Q-RICH-ASSOCIATED PROTEIN; PCQAP;; TPA-INDUCIBLE GENE 1; TIG1;; ACTIVATOR-RECRUITED COFACTOR, 105-KD; ARC105 Percent 607373 AUTISM, SUSCEPTIBILITY TO, 8; AUTS8 AUTS2, FORMERLY Asterisk 607374 PRKR INHIBITOR, REPRESSOR OF; PRKRIR PROTEIN KINASE, INTERFERON-INDUCIBLE DOUBLE-STRANDED RNA-DEPENDENT INHIBITOR, REPRESSOR OF;; REPRESSOR OF THE INHIBITOR OF PROTEIN KINASE, 52-KD; P52(RIPK);; P58 REPRESSOR;; PRKRI REPRESSOR;; THAP DOMAIN-CONTAINING PROTEIN 0; THAP0 Asterisk 607375 DOT1-LIKE; DOT1L DOT1, S. CEREVISIAE, HOMOLOG OF; DOT1;; HISTONE H3 METHYLTRANSFERASE DOT1-LIKE;; KIAA1814 Asterisk 607376 DYNACTIN 2; DCTN2 DYNAMITIN;; DYNACTIN COMPLEX, 50-KD SUBUNIT; DCTN50 Asterisk 607377 LENS EPITHELIAL PROTEIN; LENEP LEP503, RAT, HOMOLOG OF; LEP503 Asterisk 607378 SERPINE1 mRNA-BINDING PROTEIN 1; SERBP1 PAI1 RNA-BINDING PROTEIN 1;; PAIRBP1 Asterisk 607379 NEUROFIBROMIN 2; NF2 MERLIN;; SCHWANNOMIN; SCH Asterisk 607380 TNF RECEPTOR-ASSOCIATED FACTOR 3-INTERACTING PROTEIN 1; TRAF3IP1 TRAF3-INTERACTING PROTEIN 1;; MICROTUBULE-INTERACTING PROTEIN ASSOCIATED WITH TRAF3; MIPT3;; INTRAFLAGELLAR TRANSPORT PROTEIN 54, CHLAMYDOMONAS, HOMOLOG OF; IFT54 Asterisk 607381 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 50, YEAST, HOMOLOG OF; TIMM50 TIM50 Asterisk 607382 CAP-GLY DOMAIN-CONTAINING LINKER PROTEIN 3; CLIP3 CYTOPLASMIC LINKER PROTEIN 170-RELATED PROTEIN, 59-KD; CLIPR59 Asterisk 607383 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 13, YEAST, HOMOLOG OF; TIMM13 TIM13 Asterisk 607384 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 9, YEAST, HOMOLOG OF; TIMM9 TIM9 Asterisk 607385 UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,3-D-MANNOSIDE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE IV GNT-IV-H Asterisk 607386 INTRAFLAGELLAR TRANSPORT 172, CHLAMYDOMONAS, HOMOLOG OF; IFT172 SELECTIVE LIM-BINDING FACTOR, RAT, HOMOLOG OF; SLB;; KIAA1179 Asterisk 607387 DYNACTIN 3; DCTN3 DYNACTIN COMPLEX, 22-KD SUBUNIT; DCTN22 Asterisk 607388 FRACTURE CALLUS 1, RAT, HOMOLOG OF; FXC1 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 10, YEAST, HOMOLOG OF, B; TIMM10B; TIM10B Asterisk 607389 SINGLE-STRANDED DNA-BINDING PROTEIN 2; SSBP2 SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT B2; SOSSB2;; SOSS COMPLEX, SUBUNIT B2 Asterisk 607390 SINGLE-STRANDED DNA-BINDING PROTEIN 3; SSBP3 Asterisk 607391 SINGLE-STRANDED DNA-BINDING PROTEIN 4; SSBP4 Asterisk 607392 WW DOMAIN-CONTAINING TRANSCRIPTION REGULATOR 1; WWTR1 TRANSCRIPTIONAL COACTIVATOR WITH PDZ-BINDING MOTIF; TAZ Asterisk 607393 CELL DIVISION CYCLE PROTEIN 73, S. CEREVISIAE, HOMOLOG OF; CDC73 PARAFIBROMIN;; HYRAX, DROSOPHILA, HOMOLOG OF; HYX;; CHROMOSOME 1 OPEN READING FRAME 28; C1ORF28;; HRPT2 Asterisk 607394 POU DOMAIN, CLASS 2, TRANSCRIPTION FACTOR 3; POU2F3 OCTAMER-BINDING TRANSCRIPTION FACTOR 11; OCT11;; SKN1A NULL 607395 STREPTOCOCCUS, GROUP A, SEVERITY OF INFECTION BY Asterisk 607396 TRANSDUCER OF ERBB2, 2; TOB2 KIAA1663 Asterisk 607397 MELANOCORTIN 2 RECEPTOR; MC2R MC2 RECEPTOR;; ACTH RECEPTOR; ACTHR;; CORTICOTROPIN RECEPTOR Number Sign 607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2 FAMILIAL GLUCOCORTICOID DEFICIENCY 2; FGD2 Asterisk 607399 MUCOLIPIN 2; MCOLN2 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 2; TRPML2 Asterisk 607400 MUCOLIPIN 3; MCOLN3 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 3; TRPML3 Asterisk 607401 INTERFERON, LAMBDA-2; IFNL2 INTERLEUKIN 28A; IL28A Asterisk 607402 INTERFERON, LAMBDA-3; IFNL3 INTERLEUKIN 28B; IL28B Asterisk 607403 INTERFERON, LAMBDA-1; IFNL1 INTERLEUKIN 29; IL29 Asterisk 607404 INTERFERON-LAMBDA RECEPTOR 1; IFNLR1 INTERLEUKIN 28 RECEPTOR, ALPHA; IL28RA Asterisk 607405 TRACE AMINE-ASSOCIATED RECEPTOR 5; TAAR5 PUTATIVE NEUROTRANSMITTER RECEPTOR; PNR Asterisk 607406 STARCH-BINDING DOMAIN-CONTAINING PROTEIN 1; STBD1 GENETHONIN 1;; GENEX3414 Asterisk 607407 EARLY B-CELL FACTOR 3; EBF3 COLLIER/OLF1/EBF TRANSCRIPTION FACTOR 3; COE3 Asterisk 607408 D-AMINO ACID OXIDASE ACTIVATOR; DAOA G72 Asterisk 607409 NEURITIN 1; NRN1 NEURITIN; NRN Asterisk 607410 DIENCEPHALON/MESENCEPHALON HOMEOBOX 1; DMBX1 ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 3; OTX3 Percent 607411 PATENT DUCTUS ARTERIOSUS 1; PDA1 PDA Asterisk 607412 BPI FOLD-CONTAINING PROTEIN, FAMILY A, MEMBER 1; BPIFA1 PALATE, LUNG, AND NASAL EPITHELIUM CARCINOMA-ASSOCIATED PROTEIN; PLUNC;; SPLUNC1 NULL 607413 ALZHEIMER DISEASE NEURONAL THREAD PROTEIN AD7CNTP Asterisk 607414 FEZ FAMILY ZINC FINGER PROTEIN 2; FEZF2 ZINC FINGER PROTEIN 312; ZNF312;; FOREBRAIN EMBRYONIC ZINC FINGER-LIKE; FEZL;; TOO FEW, ZEBRAFISH, HOMOLOG OF; TOF Asterisk 607415 DAOA ANTISENSE RNA; DAOAAS G30 Asterisk 607416 CHL1, MOUSE, HOMOLOG OF; CHL1 CELL ADHESION MOLECULE L1-LIKE; CALL;; L1 CELL ADHESION MOLECULE 2; L1CAM2 Number Sign 607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A; MRT2A Asterisk 607418 GRIP AND COILED-COIL DOMAINS-CONTAINING PROTEIN 1; GCC1 GOLGI COILED-COIL PROTEIN 1;; GCC PROTEIN, 88-KD; GCC88 Asterisk 607419 GEM-ASSOCIATED PROTEIN 7; GEMIN7 Asterisk 607420 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 1; GABARAPL1 GABARAP-LIKE PROTEIN 1;; GLANDULAR EPITHELIAL CELL PROTEIN 1; GEC1;; APG8-LIKE; APG8L Asterisk 607421 NME/NM23 FAMILY MEMBER 8; NME8 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 3; TXNDC3;; SPERM-SPECIFIC THIOREDOXIN 2; SPTRX2 Asterisk 607422 GLYCINE C-ACETYLTRANSFERASE; GCAT 2-AMINO-3-KETOBUTYRATE COENZYME A LIGASE; KBL Asterisk 607423 PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1 ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF; RT Asterisk 607424 GLYCINE N-ACYLTRANSFERASE; GLYAT GAT;; ACYL-CoA:GLYCINE N-ACYLTRANSFERASE; ACGNAT Asterisk 607425 GAP JUNCTION PROTEIN, DELTA-3; GJD3 GAP JUNCTION PROTEIN, ALPHA-11; GJA11;; GAP JUNCTION PROTEIN, 31.9-KD;; CONNEXIN 31.9; CX31.9;; GAP JUNCTION PROTEIN, CHI-1, FORMERLY; GJC1, FORMERLY Number Sign 607426 COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 CoQ10 DEFICIENCY, PRIMARY, 1;; UBIQUINONE DEFICIENCY 1;; COENZYME Q DEFICIENCY 1;; CoQ DEFICIENCY 1 Asterisk 607427 ENOLASE SUPERFAMILY MEMBER 1; ENOSF1 THYMIDYLATE SYNTHASE, ANTISENSE; RTS Asterisk 607428 KIN OF IRRE-LIKE; KIRREL NEPHRIN-LIKE 1; NEPH1 Asterisk 607429 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1; PDSS1 DECAPRENYL DIPHOSPHATE SYNTHASE; DPS;; SOLANESYL DIPHOSPHATE SYNTHASE, MOUSE, HOMOLOG OF; SPS;; TRANS-PRENYLTRANSFERASE; TPT;; POLYPRENYL PYROPHOSPHATE SYNTHETASE;; COQ1, S. CEREVISIAE, HOMOLOG OF; COQ1 Asterisk 607430 DAZ-ASSOCIATED PROTEIN 1; DAZAP1 Asterisk 607431 DAZ-ASSOCIATED PROTEIN 2; DAZAP2 KIAA0058 Number Sign 607432 LISSENCEPHALY 1; LIS1 LISSENCEPHALY SEQUENCE, ISOLATED; ILS;; LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED;; SUBCORTICAL BAND HETEROTOPIA, INCLUDED; SBH, INCLUDED Asterisk 607433 TWINFILIN, DROSOPHILA, HOMOLOG OF, 2; TWF2 PROTEIN TYROSINE KINASE 9-LIKE; PTK9L;; A6-RELATED PROTEIN; A6RP Asterisk 607434 GTP-BINDING PROTEIN 2; GTPBP2 Asterisk 607435 ERA G-PROTEIN-LIKE 1; ERAL1 ERAL1A ERAL1B, INCLUDED Asterisk 607436 POLY(A) POLYMERASE, BETA; PAPOLB POLY(A) POLYMERASE, TESTIS-SPECIFIC; PAPT; TPAP Asterisk 607437 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 5, MEMBER D; GPRC5D Caret 607438 MOVED TO 138210 Asterisk 607439 PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2 Asterisk 607440 FUKUTIN; FKTN FCMD GENE; FCMD Asterisk 607441 EPITHELIAL STROMAL INTERACTION 1; EPSTI1 Asterisk 607442 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 4; EML4 ROPP120 EML4-ALK FUSION GENE, INCLUDED Asterisk 607443 EPIDIDYMAL SPERM BINDING PROTEIN 1; ELSPBP1 Asterisk 607444 SBDS GENE; SBDS Asterisk 607445 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E NUCLEAR IMPORT FACTOR 1; EIF4ENIF1 EIF4E-TRANSPORTER;; 4E-T Percent 607446 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 3; BMIQ3 Number Sign 607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4 OBESITY, SUSCEPTIBILITY TO Asterisk 607448 NEUROPEPTIDE FF RECEPTOR 1; NPFFR1 G PROTEIN-COUPLED RECEPTOR 147; GPR147;; NEUROPEPTIDE FF1; NPFF1 Asterisk 607449 NEUROPEPTIDE FF RECEPTOR 2; NPFFR2 G PROTEIN-COUPLED RECEPTOR 74; GPR74;; NEUROPEPTIDE FF2; NPFF2;; NEUROPEPTIDE G PROTEIN-COUPLED RECEPTOR; NPGPR Number Sign 607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8; ARVC8 Asterisk 607451 GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 2; GMEB2 PARVOVIRUS INITIATION FACTOR, p79 SUBUNIT;; KIAA1269 Asterisk 607452 GABA-A RECEPTOR-ASSOCIATED PROTEIN-LIKE PROTEIN 2; GABARAPL2 GATE16, BOVINE, HOMOLOG OF; GATE16 Number Sign 607453 DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44 Number Sign 607454 SPINOCEREBELLAR ATAXIA 21; SCA21 Asterisk 607455 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 3; ZFAND3 AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 3;; TESTIS-EXPRESSED GENE 27; TEX27 Asterisk 607456 UTP4, S. CEREVISIAE, HOMOLOG OF; UTP4 CIRHIN; CIRH1A;; TESTIS-EXPRESSED GENE 292; TEX292;; KIAA1988 Number Sign 607457 GIL BLOOD GROUP Percent 607458 SPINOCEREBELLAR ATAXIA 18; SCA18 SENSORIMOTOR NEUROPATHY WITH ATAXIA, AUTOSOMAL DOMINANT; SMNA Number Sign 607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED;; EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY, INCLUDED;; EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY; EPM5, FORMERLY Asterisk 607460 PHOSPHATIDYLSERINE-SPECIFIC PHOSPHOLIPASE A1-ALPHA; PLA1A PHOSPHATIDYLSERINE-SPECIFIC PHOSPHOLIPASE A1; PSPLA1 Asterisk 607461 DYMECLIN; DYM Asterisk 607462 ATROPHIN 1; ATN1 DRPLA GENE; DRPLA Asterisk 607463 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 13-LIKE; PPP1R13L RELA-ASSOCIATED INHIBITOR; RAI;; INHIBITORY MEMBER OF THE ASPP FAMILY; IASPP;; NF-KAPPA-B-INTERACTING PROTEIN 1; NKIP1 Number Sign 607464 THYROID CARCINOMA, HURTHLE CELL HURTHLE CELL THYROID NEOPLASIA Asterisk 607465 CODANIN 1; CDAN1 DISCS LOST, DROSOPHILA, HOMOLOG OF; DLT Asterisk 607466 RAS-ASSOCIATED PROTEIN RAB2B; RAB2B Asterisk 607467 C-TYPE LECTIN-LIKE 1; CLECL1 DENDRITIC CELL-ASSOCIATED LECTIN 1; DCAL1 Asterisk 607468 G PROTEIN-COUPLED RECEPTOR 88; GPR88 STRIATUM-SPECIFIC G PROTEIN-COUPLED RECEPTOR; STRG Asterisk 607469 N-ACYLETHANOLAMINE ACID AMIDASE; NAAA N-ACYLSPHINGOSINE AMIDOHYDROLASE-LIKE PROTEIN; ASAHL;; ASAH-LIKE PROTEIN;; ACID CERAMIDASE-LIKE PROTEIN Asterisk 607470 BREAST CARCINOMA AMPLIFIED SEQUENCE 3; BCAS3 Asterisk 607471 BREAST CARCINOMA AMPLIFIED SEQUENCE 4; BCAS4 Asterisk 607472 MITOCHONDRIAL ESCAPE 1-LIKE 1; YME1L1 YME1L;; YME1, S. CEREVISIAE, HOMOLOG OF, 1;; PRESENILIN-ASSOCIATED METALLOPROTEASE; PAMP Number Sign 607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2 Asterisk 607474 HOMOGENTISATE 1,2-DIOXYGENASE; HGD HOMOGENTISIC ACID OXIDASE; HGO Number Sign 607475 BOTHNIA RETINAL DYSTROPHY VASTERBOTTEN DYSTROPHY Number Sign 607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD Asterisk 607477 G2- AND S-PHASE EXPRESSED GENE 1; GTSE1 Asterisk 607478 TRYPTOPHAN HYDROXYLASE 2; TPH2 TRYPTOPHAN HYDROXYLASE, NEURONAL; NTPH Asterisk 607479 APC, DOWNREGULATED BY, 1; APCDD1 Caret 607480 MOVED TO 300424 Asterisk 607481 MMAA GENE; MMAA Number Sign 607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M Number Sign 607483 THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE; BBGD;; BTBGD;; ENCEPHALOPATHY, THIAMINE-RESPONSIVE Asterisk 607484 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, ALPHA; PARD6A PAR6;; TAX-INTERACTING PROTEIN 40; TAX40 Number Sign 607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED FTLD-TDP, GRN-RELATED;; FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED;; FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU;; FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE; FTDU;; DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION; HDDD APHASIA, PRIMARY PROGRESSIVE, INCLUDED; PPA, INCLUDED Number Sign 607486 KNOPS BLOOD GROUP SYSTEM; KN Number Sign 607487 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25 Percent 607488 DYSTONIA 15, MYOCLONIC; DYT15 Asterisk 607489 CULLIN 9; CUL9 p53-ASSOCIATED PARKIN-LIKE CYTOPLASMIC PROTEIN; PARC;; KIAA0708 Asterisk 607490 LACTATE DEHYDROGENASE D; LDHD D-LACTATE DEHYDROGENASE Asterisk 607491 PROTEIN O-FUCOSYLTRANSFERASE 1; POFUT1 OFUT1; OFUCT1;; KIAA0180 Asterisk 607492 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 1; PACS1 Asterisk 607493 INHIBITOR OF GROWTH 3; ING3 p47ING3 Asterisk 607494 INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE II, 105-KD; INPP4B Caret 607495 MOVED TO 607138 Asterisk 607496 NITRIC OXIDE SYNTHASE TRAFFICKER; NOSTRIN ENDOTHELIAL NITRIC OXIDE SYNTHASE TRAFFIC INDUCER;; ENOS TRAFFIC INDUCER Asterisk 607497 BETA-1,3-GLUCURONYLTRANSFERASE 2; B3GAT2 UDP-GLUCURONYLTRANSFERASE S;; GLUCURONOSYLTRANSFERASE S; GLCATS;; KIAA1963 Percent 607498 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3 MGR3 Percent 607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO; BULN BN BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1, INCLUDED; BULN1, INCLUDED Caret 607500 MOVED TO 146390 Percent 607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 MGR4;; MGOA Asterisk 607502 DISPATCHED, DROSOPHILA, HOMOLOG OF, 1; DISP1 DISPA Asterisk 607503 DISPATCHED, DROSOPHILA, HOMOLOG OF, 2; DISP2 DISPB;; KIAA1742 NULL 607504 HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY; HSA BENIGN SEXUAL HEADACHE; BSH Asterisk 607505 PAS DOMAIN-CONTAINING SERINE/THREONINE KINASE; PASK PAS KINASE;; PASKIN;; KIAA0135 Asterisk 607506 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 14; ADAMTS14 Number Sign 607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1, INCLUDED; PSORAS1, INCLUDED Percent 607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5 MGR5 Asterisk 607509 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 15; ADAMTS15 Asterisk 607510 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 16; ADAMTS16 Asterisk 607511 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 17; ADAMTS17 Asterisk 607512 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 18; ADAMTS18 Asterisk 607513 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 19; ADAMTS19 Number Sign 607514 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10; BMIQ10 OBESITY, SUSCEPTIBILITY TO Asterisk 607515 PLACENTA-SPECIFIC GENE 8; PLAC8 Percent 607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 MGR6 MIGRAINE, FAMILIAL HEMIPLEGIC, 4, INCLUDED; FHM4, INCLUDED Asterisk 607517 LEUKOCYTE IMMUNOGLOBULIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 4; LILRA4 IMMUNOGLOBULIN-LIKE TRANSCRIPT 7; ILT7 Asterisk 607518 MONOCYTE AND PLASMACYTOID ACTIVATED MOLECULE MAPA Asterisk 607519 POLY(ADP-RIBOSE) POLYMERASE 4; PARP4 ADP-RIBOSYLTRANSFERASE-LIKE 1; ADPRTL1;; VAULT POLY(ADP-RIBOSE) POLYMERASE; VPARP;; KIAA0177 Asterisk 607520 ZYGOTE ARREST 1; ZAR1 Asterisk 607521 HPS5 GENE; HPS5 RUBY-EYE 2, MOUSE, HOMOLOG OF; RU2;; KIAA1017;; ALPHA-INTEGRIN-BINDING PROTEIN 63; AIBP63 Asterisk 607522 HPS6 GENE; HPS6 RUBY-EYE, MOUSE, HOMOLOG OF; RU Number Sign 607523 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8; NDNC8 TOENAIL DYSTROPHY, ISOLATED Asterisk 607524 RING FINGER PROTEIN 39; RNF39 HZFW;; HZF;; LONG-TERM POTENTIATION-INDUCED RING FINGER PROTEIN; LIRF Asterisk 607525 ZINC RIBBON DOMAIN-CONTAINING PROTEIN 1; ZNRD1 TCTEX6, MOUSE, HOMOLOG OF; TCTEX6;; TEX6; HTEX6 Asterisk 607526 RIBOSOMAL PROTEIN L27; RPL27 Asterisk 607527 REGULATOR OF DIFFERENTIATION 1; ROD1 Asterisk 607528 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 4; ROBO4 MAGIC ROUNDABOUT Asterisk 607529 SERYL-tRNA SYNTHETASE; SARS SERS;; SERRS Asterisk 607530 HOMEOBOX A11, ANTISENSE; HOXA11AS HOXA11S Asterisk 607531 KRUPPEL-LIKE FACTOR 12; KLF12 AP2 REPRESSOR; AP2REP Asterisk 607532 PROGESTERONE-INDUCED BLOCKING FACTOR 1; PIBF1 PIBF Asterisk 607533 DIS3 MITOTIC CONTROL, S. CEREVISIAE, HOMOLOG OF; DIS3 EXOSOME COMPONENT 11; EXOSC11;; RIBOSOMAL RNA-PROCESSING PROTEIN 44, S. CEREVISIAE, HOMOLOG OF; RRP44;; KIAA1008 Asterisk 607534 YY1-ASSOCIATED FACTOR 2; YAF2 Asterisk 607535 RING1- AND YY1-BINDING PROTEIN; RYBP YY1- AND E4TF1/GABP-ASSOCIATED FACTOR 1; YEAF1 Asterisk 607536 CREB-REGULATED TRANSCRIPTION COACTIVATOR 1; CRTC1 MUCOEPIDERMOID CARCINOMA-TRANSLOCATED 1; MECT1;; TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; TORC1;; TRANSDUCER OF REGULATED CREB 1;; KIAA0616;; FLJ14027 MECT1/MAML2 FUSION GENE, INCLUDED Asterisk 607537 MASTERMIND-LIKE 2; MAML2 MASTERMIND, DROSOPHILA, HOMOLOG OF, 3; MAM3;; KIAA1819 MAML2/MECT1 FUSION GENE, INCLUDED;; MAML2/MLL FUSION GENE, INCLUDED Asterisk 607538 NUDE NEURODEVELOPMENT PROTEIN 1-LIKE 1; NDEL1 NUDE-LIKE PROTEIN; NUDEL;; ENDOOLIGOPEPTIDASE A; EOPA Number Sign 607539 CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD CAMPTOPOLYDACTYLY, DISORGANIZATION TYPE NULL 607540 SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS Number Sign 607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA ACD;; AVELLINO CORNEAL DYSTROPHY;; COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY;; GRANULAR CORNEAL DYSTROPHY, TYPE II; CGD2 Asterisk 607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1 KVLQT1;; POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 9; KCNA9;; KCNA8 NULL 607543 SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM SMD WITH BOWED FOREARMS AND FACIAL DYSMORPHISM Asterisk 607544 LEUCINE-RICH PPR MOTIF-CONTAINING PROTEIN; LRPPRC LEUCINE-RICH PROTEIN, 130-KD; LRP130 Asterisk 607545 METHYLSTEROL MONOOXYGENASE 1; MSMO1 STEROL C4-METHYLOXIDASE-LIKE; SC4MOL;; ERG25 Asterisk 607546 CD200 RECEPTOR 1; CD200R1 CD200R;; MOX2 RECEPTOR; MOX2R;; OX2 RECEPTOR; OX2R Asterisk 607547 RIBOSOMAL PROTEIN L39-LIKE; RPL39L Asterisk 607548 RADIAL SPOKEHEAD-LIKE 1; RSHL1 Asterisk 607549 POTE ANKYRIN DOMAIN FAMILY, MEMBER D; POTED ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 21; ANKRD21;; PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE; POTE;; PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 21; POTE21 Asterisk 607550 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 10; SLC16A10 T-TYPE AMINO ACID TRANSPORTER 1; TAT1 Asterisk 607551 STROMAL CELL-DERIVED FACTOR 2-LIKE 1; SDF2L1 SDF2-LIKE 1 Caret 607552 MOVED TO 255320 Asterisk 607553 EPIPLAKIN 1; EPPK1 Number Sign 607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 Asterisk 607555 TORSIN 3A; TOR3A ATP-DEPENDENT INTERFERON-RESPONSIVE PROTEIN; ADIR Asterisk 607556 TWIST, DROSOPHILA, HOMOLOG OF, 2; TWIST2 DERMIS-EXPRESSED PROTEIN 1, MOUSE, HOMOLOG OF; DERMO1 Asterisk 607557 SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 8; SLC17A8 SOLUTE CARRIER FAMILY 17 (SODIUM-DEPENDENT PHOSPHATE COTRANSPORTER), MEMBER 8;; VESICULAR GLUTAMATE TRANSPORTER 3; VGLUT3 Asterisk 607558 SEC14-LIKE 2; SEC14L2 SEC14, S. CEREVISIAE, HOMOLOG OF, 2;; TOCOPHEROL-ASSOCIATED PROTEIN 1; TAP1;; TAP KIAA1186 Asterisk 607559 MAHOGUNIN, RING FINGER 1; MGRN1 MAHOGANOID, MOUSE, HOMOLOG OF;; KIAA0544 Asterisk 607560 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ARHGEF2 GEFH1;; KIAA0651 Caret 607561 MOVED TO 210720 Asterisk 607562 INTERLEUKIN 23 RECEPTOR; IL23R Asterisk 607563 SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 6; SLC17A6 SOLUTE CARRIER FAMILY 17 (SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER), MEMBER 6;; VESICULAR GLUTAMATE TRANSPORTER 2; VGLUT2;; DIFFERENTIATION-ASSOCIATED SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER; DNPI;; SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER, DIFFERENTIATION-ASSOCIATED Asterisk 607564 TRIPARTITE MOTIF-CONTAINING PROTEIN 6; TRIM6 NULL 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION SPAR Asterisk 607566 EPM2A GENE; EPM2A LAFORIN EPM2A, ISOFORM A, INCLUDED;; EPM2A, ISOFORM B, INCLUDED Asterisk 607567 OLFACTOMEDIN 3; OLFM3 OPTIMEDIN;; NOELIN 3; NOE3 Asterisk 607568 MMAB GENE; MMAB COB(I)ALAMIN ADENOSYLTRANSFERASE Caret 607569 MOVED TO 603689 Asterisk 607570 DEAH BOX POLYPEPTIDE 40; DHX40 DDX40 Asterisk 607571 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL OXODICARBOXYLATE CARRIER), MEMBER 21; SLC25A21 OXODICARBOXYLATE CARRIER; ODC Percent 607572 LEPROSY, SUSCEPTIBILITY TO, 2; LPRS2 Asterisk 607573 MICROTUBULE-ASSOCIATED PROTEIN 1S; MAP1S MAP8;; BPY2-INTERACTING PROTEIN 1; BPY2IP1;; VCY2-INTERACTING PROTEIN 1; VCY2IP1;; CHROMOSOME 19 OPEN READING FRAME 5; C19ORF5 Asterisk 607574 ARYLSULFATASE A; ARSA CEREBROSIDE-SULFATASE;; CEREBROSIDE 3-SULFATASE Asterisk 607575 ADENOSINE DEAMINASE 2; ADA2 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 1; CECR1 Asterisk 607576 CAT EYE SYNDROME CHROMOSOME REGION, CANDIDATE 2; CECR2 KIAA1740 Asterisk 607577 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 4; ENTPD4 LYSOSOMAL APYRASE-LIKE PROTEIN 1; LYSAL1;; URIDINE DIPHOSPHATASE, GOLGI LUMINAL;; UDPase, GOLGI LUMINAL;; GOLGI LUMINAL UDPase;; LAP70; LALP70;; KIAA0392 NULL 607578 BREATH-HOLDING SPELLS BHS Asterisk 607579 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 9; SLC22A9 ORGANIC ANION TRANSPORTER 4; OAT4;; UST3 Asterisk 607580 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION/CATION TRANSPORTER), MEMBER 10; SLC22A10 ORGANIC ANION TRANSPORTER 5; OAT5 Asterisk 607581 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 8; SLC22A8 ORGANIC ANION TRANSPORTER 3; OAT3 Asterisk 607582 SOLUTE CARRIER FAMILY 22 (ORGANIC ANION TRANSPORTER), MEMBER 6; SLC22A6 ORGANIC ANION TRANSPORTER 1; OAT1;; PARA-AMINOHIPPURATE TRANSPORTER; PAHT;; PAH TRANSPORTER Asterisk 607583 PEROXISOME BIOGENESIS FACTOR 11G; PEX11G PEX11-GAMMA Percent 607584 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24 Asterisk 607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM Asterisk 607586 CALCIUM RESPONSE FACTOR; CARF ALS2 CHROMOSOME REGION GENE 8; ALS2CR8 Asterisk 607587 INTERLEUKIN 17D; IL17D Asterisk 607588 PEPTIDYL-PROLYL ISOMERASE-LIKE 2; PPIL2 CYCLOPHILIN, 60-KD; CYP60 Asterisk 607589 SERUM/GLUCOCORTICOID-REGULATED KINASE 2; SGK2 Asterisk 607590 BBS7 GENE; BBS7 FLJ10715 Asterisk 607591 SERUM/GLUCOCORTICOID-REGULATED KINASE 3; SGK3 SERUM/GLUCOCORTICOID-REGULATED KINASE-LIKE PROTEIN; SGKL;; CYTOKINE-INDEPENDENT SURVIVAL KINASE; CISK Percent 607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19 HPCQTL19 Asterisk 607593 MEDIATOR OF DNA DAMAGE CHECKPOINT PROTEIN 1; MDC1 NUCLEAR FACTOR WITH BRCT DOMAINS PROTEIN 1; NFBD1;; KIAA0170 Number Sign 607594 IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1 ANTIBODY DEFICIENCY DUE TO ICOS DEFECT IMMUNODEFICIENCY, COMMON VARIABLE, INCLUDED; CVID, INCLUDED Caret 607595 MOVED TO 175780 Number Sign 607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A PCH1;; PONTOCEREBELLAR HYPOPLASIA WITH INFANTILE SPINAL MUSCULAR ATROPHY;; PONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL DISEASE NULL 607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES Number Sign 607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE A Asterisk 607599 RETINOL DEHYDROGENASE 10; RDH10 Percent 607600 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS Asterisk 607601 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1; TICAM1 TIR DOMAIN-CONTAINING ADAPTOR INDUCING INTERFERON-BETA; TRIF Number Sign 607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS CIEHK;; EPIDERMOLYTIC ICHTHYOSIS, ANNULAR; AEI Asterisk 607603 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY G, MEMBER 4; KCNG4 KV6.3;; KV6.4 Asterisk 607604 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 2; KCNV2 KV8.2 Asterisk 607605 GLUTATHIONE S-TRANSFERASE, ALPHA-5; GSTA5 GLUTATHIONE S-TRANSFERASE A5 Asterisk 607606 KERATIN 9, TYPE I; KRT9 K9;; KA9 Asterisk 607607 NUCLEOPORIN, 54-KD; NUP54 Asterisk 607608 SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1 SPHINGOMYELINASE, ACID; ASM Asterisk 607609 PEPTIDYL-PROLYL ISOMERASE-LIKE 4; PPIL4 Asterisk 607610 PHOSPHOLIPID SCRAMBLASE 2; PLSCR2 Asterisk 607611 PHOSPHOLIPID SCRAMBLASE 3; PLSCR3 Asterisk 607612 PHOSPHOLIPID SCRAMBLASE 4; PLSCR4 Asterisk 607613 NUCLEOPORIN, 133-KD; NUP133 Asterisk 607614 NUCLEOPORIN, 160-KD; NUP160 NUP120;; KIAA0197 Asterisk 607615 NUCLEOPORIN, 58-KD; NUP58 NUCLEOPORIN-LIKE 1; NUPL1;; KIAA0410 Number Sign 607616 NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE E, INCLUDED;; NIEMANN-PICK DISEASE, TYPE F, INCLUDED;; NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION, INCLUDED Asterisk 607617 NUCLEOPORIN, 107-KD; NUP107 NUP84, YEAST, HOMOLOG OF; NUP84 Asterisk 607618 DEAD/H BOX 28; DDX28 MITOCHONDRIAL DEAD BOX POLYPEPTIDE 28; MDDX28 Asterisk 607619 FERM DOMAIN-CONTAINING PROTEIN 3; FRMD3 NONERYTHROID PROTEIN 4.1, OVARY TYPE;; PROTEIN 4.1O;; EPB41LO Asterisk 607620 COLLECTIN 10; COLEC10 COLLECTIN, LIVER, 1; CLL1 Asterisk 607621 COLLECTIN 12; COLEC12 SCAVENGER RECEPTOR WITH C-TYPE LECTIN DOMAIN; SRCL;; COLLECTIN, PLACENTA, 1; CLP1;; SCAVENGER RECEPTOR CLASS A, MEMBER 4; SCARA4 Asterisk 607622 PHOSPHOMEVALONATE KINASE; PMVK PMK;; PMKase Asterisk 607623 NPC1 GENE; NPC1 Number Sign 607624 GRISCELLI SYNDROME, TYPE 2; GS2 GRISCELLI SYNDROME WITH HEMOPHAGOCYTIC SYNDROME;; PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME;; PAID SYNDROME Number Sign 607625 NIEMANN-PICK DISEASE, TYPE C2; NPC2 Number Sign 607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS; ILVASC ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME;; NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME;; NISCH SYNDROME Asterisk 607627 BREAST CANCER- AND SALIVARY GLAND-EXPRESSED GENE BASE Number Sign 607628 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED; EJM8, INCLUDED;; EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; EJA2, INCLUDED Asterisk 607629 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, A; APH1A Asterisk 607630 ANTERIOR PHARYNX DEFECTIVE 1, C. ELEGANS, HOMOLOG OF, B; APH1B Number Sign 607631 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1; EJA1 JAE1 Asterisk 607632 PRESENILIN ENHANCER 2, C. ELEGANS, HOMOLOG OF; PSENEN PEN2 Asterisk 607633 XANTHINE DEHYDROGENASE; XDH XANTHINE OXIDOREDUCTASE; XOR;; XANTHINE OXIDASE; XO Number Sign 607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1 OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I Asterisk 607635 CARBOXYPEPTIDASE A4; CPA4 CPA3 Number Sign 607636 VAN BUCHEM DISEASE, TYPE 2 VBCH2 Asterisk 607637 EMX2 OPPOSITE STRAND; EMX2OS EMX2-ANTISENSE Asterisk 607638 DEOXYCYTIDYLATE DEAMINASE; DCTD Asterisk 607639 SCAVENGER RECEPTOR CYSTEINE-RICH FAMILY MEMBER WITH 4 DOMAINS; SSC4D PROTEIN WITH 4 GROUP B SCAVENGER RECEPTOR CYSTEINE-RICH DOMAINS; SRCRB4D;; S4D-SRCRB Asterisk 607640 ATAXIN 7; ATXN7 Number Sign 607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B HMN VIIB;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB;; DHMN7B;; NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB;; LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE Asterisk 607642 RETINOIC ACID-INDUCED GENE 1; RAI1 RETINOIC ACID-INDUCIBLE 1 Asterisk 607643 FASCIN ACTIN-BUNDLING PROTEIN 2, RETINAL; FSCN2 FASCIN, SEA URCHIN, HOMOLOG OF, 2;; FASCIN, RETINAL; RFSN Percent 607644 CANDIDIASIS, FAMILIAL, 3; CANDF3 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1;; FCNC Asterisk 607645 D4S234E GENE; D4S234E Asterisk 607646 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7B; ZBTB7B ZINC FINGER PROTEIN 67, MOUSE, HOMOLOG OF; ZFP67;; COLLAGEN KROX PROTEIN; CKROX;; T HELPER-INDUCING POZ/KRUPPEL-LIKE FACTOR; THPOK Asterisk 607647 PLASMALEMMA VESICLE-ASSOCIATED PROTEIN; PLVAP PLASMALEMMA VESICLE PROTEIN 1; PV1 Asterisk 607648 SERINE/THREONINE PROTEIN KINASE 39; STK39 STE20/SPS1-RELATED PROLINE- AND ALANINE-RICH KINASE; SPAK Asterisk 607649 OSTEOPETROSIS-ASSOCIATED TRANSMEMBRANE PROTEIN 1; OSTM1 GREY-LETHAL, MOUSE, HOMOLOG OF; GL Asterisk 607650 DEFENSIN, BETA, 118; DEFB118 CHROMOSOME 20 OPEN READING FRAME 63; C20ORF63;; EPIDIDYMIS-SPECIFIC CLONE 42; ESC42 Asterisk 607651 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 1; PLEKHB1 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, RETINAL, 1; PHR1;; KPL1;; EVECTIN 1; EVT1 Asterisk 607652 SERINE/THREONINE PROTEIN KINASE 36; STK36 FUSED, DROSOPHILA, HOMOLOG OF; FU;; KIAA1278 Asterisk 607653 RAS HOMOLOG GENE FAMILY, MEMBER J; RHOJ ARHJ;; TC10-LIKE PROTEIN; TCL;; TC10-BETA Number Sign 607654 KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 STRIATE PALMOPLANTAR KERATODERMA III; SPPK3;; KERATODERMA, PALMOPLANTAR, STRIATE FORM III; KPPS3 Number Sign 607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS Percent 607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME CHACS Asterisk 607657 CYSTATHIONINE GAMMA-LYASE; CTH CYSTATHIONASE Percent 607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME HOPP SYNDROME Asterisk 607659 ELL-ASSOCIATED FACTOR 2; EAF2 Asterisk 607660 TESTIS-SPECIFIC SERINE/THREONINE KINASE 3; TSSK3 SERINE/THREONINE PROTEIN KINASE 22C; STK22C;; STK22D, MOUSE, HOMOLOG OF; STK22D Asterisk 607661 SPERM-ASSOCIATED ANTIGEN 10; SPAG10 Asterisk 607662 SPERMATOGENESIS-ASSOCIATED PROTEIN 2; SPATA2 KIAA0757 Asterisk 607663 DEAD BOX POLYPEPTIDE 25; DDX25 GONADOTROPIN-REGULATED TESTICULAR RNA HELICASE; GRTH Asterisk 607664 N-ACETYLGLUCOSAMINE-6-SULFATASE; GNS GLUCOSAMINE-6-SULFATASE; G6S NULL 607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU ACUTE TUBULOINTERSTITIAL NEPHRITIS, INCLUDED; ATIN, INCLUDED Asterisk 607666 ANGIOPOIETIN-LIKE 5; ANGPTL5 Asterisk 607667 CATENIN, ALPHA-3; CTNNA3 ALPHA-T-CATENIN;; VR22 Asterisk 607668 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 4; ARL6IP4 Asterisk 607669 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 1; ARL6IP1 ARL6IP;; KIAA0069 Asterisk 607670 SERINE/THREONINE PROTEIN KINASE 33; STK33 Percent 607671 DYSTONIA 13, TORSION, AUTOSOMAL DOMINANT; DYT13 Asterisk 607672 CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1 CLC;; B-CELL STIMULATORY FACTOR 3; BSF3 Asterisk 607673 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 1; EDEM1 EDEM;; KIAA0212 Percent 607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY Asterisk 607675 REST COREPRESSOR; RCOR COREST;; KIAA0071 Number Sign 607676 IRAK4 DEFICIENCY IRAK4D Number Sign 607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I; CMT2I CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2I Number Sign 607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D HEREDITARY MOTOR AND SENSORY NEUROPATHY 1D;; HMSN ID;; HMSN1D;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D Asterisk 607679 DEDICATOR OF CYTOKINESIS 4; DOCK4 KIAA0716 Asterisk 607680 ZINC FINGER PROTEIN 363; ZNF363 p53-INDUCED PROTEIN, RING-H2 DOMAIN-CONTAINING; PIRH2;; ANDROGEN RECEPTOR N-TERMINAL DOMAIN-INTERACTING PROTEIN; ARNIP Number Sign 607681 FEBRILE SEIZURES, FAMILIAL, 8; FEB8 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; ECA2, INCLUDED;; GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3, INCLUDED; GEFSP3, INCLUDED;; GEFS+, TYPE 3, INCLUDED; GEFS+3, INCLUDED Number Sign 607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED; EJM6, INCLUDED Percent 607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52 DEAFNESS, AUTOSOMAL DOMINANT 42; DFNA42 Number Sign 607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2E Number Sign 607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES Asterisk 607686 FIP1-LIKE 1; FIP1L1 FIP1L1/PDGFRA FUSION GENE, INCLUDED Percent 607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 HDLCQ3 Number Sign 607688 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11 Caret 607689 MOVED TO 246700 Asterisk 607690 SAR1, S. CEREVISIAE, HOMOLOG B; SAR1B SAR1A, S. CEREVISIAE, HOMOLOG 2; SARA2 Asterisk 607691 SAR1, S. CEREVISIAE, HOMOLOG OF, A; SAR1A SAR1A, S. CEREVISIAE, HOMOLOG OF, 1; SARA1 Caret 607692 MOVED TO 248800 AND 246700 Asterisk 607693 SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2; SECISBP2 SECIS-BINDING PROTEIN 2; SBP2 Number Sign 607694 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7 LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION;; ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION; ADDH;; LEUKODYSTROPHY, HYPOMYELINATING, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM;; 4H SYNDROME Asterisk 607695 EUKARYOTIC ELONGATION FACTOR, SELENOCYSTEINE-tRNA-SPECIFIC; EEFSEC SELENOPROTEIN TRANSLATION FACTOR SELB; SELB;; EFSEC Asterisk 607696 USH1G GENE; USH1G SCAFFOLD PROTEIN CONTAINING ANKYRIN REPEATS AND SAM DOMAIN; SANS Asterisk 607697 SET-BINDING FACTOR 2; SBF2 MYOTUBULARIN-RELATED 13; MTMR13;; KIAA1766 Asterisk 607698 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR; LCOR MBLK1-RELATED PROTEIN 2; MLR2;; KIAA1795 CHROMOSOME 10 OPEN READING FRAME 12, INCLUDED; C10ORF12, INCLUDED;; PRC2-ASSOCIATED LCOR ISOFORM 1, INCLUDED; PALI1, INCLUDED Asterisk 607699 RING FINGER PROTEIN 20; RNF20 BRE1, S. CEREVISIAE, HOMOLOG OF, A; BRE1A Asterisk 607700 RING FINGER PROTEIN 40; RNF40 BRE1, S. CEREVISIAE, HOMOLOG OF, B; BRE1B;; SYNTAXIN 1-INTERACTING RING FINGER PROTEIN; STARING;; RB1-BINDING PROTEIN, 95-KD; RBP95;; KIAA0661 Asterisk 607701 KELCH-LIKE 41; KLHL41 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 10; KBTBD10;; SARCOSIN Asterisk 607702 TRANSCRIPTIONAL AND IMMUNE RESPONSE REGULATOR; TCIM CHROMOSOME 8 OPEN READING FRAME 4; C8ORF4;; THYROID CANCER 1; TC1 Asterisk 607703 NUCLEOPORIN, 210-KD; NUP210 GP210;; KIAA0906 Asterisk 607704 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; KANK1 KIDNEY ANKYRIN REPEAT-CONTAINING PROTEIN; KANK;; ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 15; ANKRD15;; KIAA0172 Asterisk 607705 PROTEASOME ACTIVATOR SUBUNIT 4; PSME4 PROTEASOME ACTIVATOR, 200-KD; PA200;; KIAA0077 Number Sign 607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Asterisk 607707 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-BETA; CAMK2B Asterisk 607708 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA; CAMK2D Asterisk 607709 TIGHT JUNCTION PROTEIN 2; TJP2 ZONA OCCLUDENS 2; ZO2 Asterisk 607710 FAMILY WITH SEQUENCE SIMILARITY 189, MEMBER A2; FAM189A2 X123 GENE;; CHROMOSOME 9 OPEN READING FRAME 61; C9ORF61 Asterisk 607711 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, A; DIP2A DIP2;; KIAA0184 Asterisk 607712 HYPERMETHYLATED IN CANCER 2; HIC2 HIC1-RELATED GENE ON CHROMOSOME 22; HRG22;; KIAA1020 Asterisk 607713 KILLER-SPECIFIC SECRETORY PROTEIN, 37-KD KSP37 Asterisk 607714 TNFAIP3-INTERACTING PROTEIN 1; TNIP1 NEF-ASSOCIATED FACTOR 1; NAF1;; A20-BINDING INHIBITOR OF NFKB 1; ABIN1;; KIAA0113 Asterisk 607715 TSC22 DOMAIN FAMILY, MEMBER 1; TSC22D1 TSC22 Asterisk 607716 SYNAPTOTAGMIN 13; SYT13 KIAA1427 Asterisk 607717 TENSIN 2; TNS2 TENSIN-LIKE C1 DOMAIN-CONTAINING PHOSPHATASE; TENC1;; C1TEN;; KIAA1075 Asterisk 607718 SYNAPTOTAGMIN 6; SYT6 Asterisk 607719 SYNAPTOTAGMIN 8; SYT8 Asterisk 607720 TRANSLIN-ASSOCIATED FACTOR X-INTERACTING PROTEIN 1; TSNAXIP1 TSNAX-INTERACTING PROTEIN 1;; TRAX-INTERACTING PROTEIN 1; TXI1 Number Sign 607721 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 NSLH;; TOSTI SYNDROME Asterisk 607722 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 2; EMC2 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 2;; KIAA0103 Asterisk 607723 SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 1; SUN1 SUN DOMAIN-CONTAINING PROTEIN 1;; UNC84, C. ELEGANS, HOMOLOG OF, A; UNC84A;; KIAA0810 Asterisk 607724 CALCYPHOSINE 2; CAPS2 Asterisk 607725 POLY(ADP-RIBOSE) POLYMERASE 2; PARP2 ADP-RIBOSYLTRANSFERASE-LIKE 2; ADPRTL2;; ADP-RIBOSYLTRANSFERASE 2; ADPRT2 Asterisk 607726 POLY(ADP-RIBOSE) POLYMERASE 3; PARP3 ADP-RIBOSYLTRANSFERASE-LIKE 3; ADPRTL3 Asterisk 607727 CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED PROTEIN 1; CAND1 TBP-INTERACTING PROTEIN, 120-KD, A;; TIP120A;; TIP120;; p120(CAND1);; KIAA0829 Percent 607728 POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK4 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2; DSAP2 Asterisk 607729 DNA DAMAGE-INDUCIBLE TRANSCRIPT 4; DDIT4 REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 1; REDD1;; HIF1-RESPONSIVE PROTEIN RTP801; RTP801 Asterisk 607730 DNA DAMAGE-INDUCIBLE TRANSCRIPT 4-LIKE; DDIT4L REGULATED IN DEVELOPMENT AND DNA DAMAGE RESPONSES 2; REDD2 Percent 607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H; CMT2H CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH PYRAMIDAL FEATURES, AUTOSOMAL RECESSIVE Asterisk 607732 STERILE ALPHA AND TIR MOTIFS-CONTAINING PROTEIN 1; SARM1 STERILE ALPHA AND HEAT/ARMADILLO MOTIFS-CONTAINING PROTEIN; SARM;; KIAA0524 Asterisk 607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF; SCRIB SCRIBBLE 1; SCRB1;; CIRCLETAIL, MOUSE, HOMOLOG OF;; KIAA0147 Number Sign 607734 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F Asterisk 607735 PROGESTERONE RECEPTOR MEMBRANE COMPONENT 2; PGRMC2 Number Sign 607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2J;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, WITH HEARING LOSS AND PUPILLARY ABNORMALITIES Asterisk 607737 FIBROBLAST GROWTH FACTOR-BINDING PROTEIN 1; FGFBP1 FGF-BINDING PROTEIN 1; FGFBP;; HEPARIN-BINDING GROWTH FACTOR-BINDING PROTEIN, 17-KD; HBP17;; HBGF-BINDING PROTEIN, 17-KD Asterisk 607738 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAB-RELATED SUBFAMILY, MEMBER 2; KCNB2 KV2.2 Caret 607739 MOVED TO 604563 Asterisk 607740 UBIQUITIN-SPECIFIC PROTEASE 32; USP32 NY-REN-60 Asterisk 607741 TBC1 DOMAIN FAMILY, MEMBER 3; TBC1D3 TBC1D3A Asterisk 607742 KERATIN 24, TYPE I; KRT24 K24;; KA24;; FLJ20261 Asterisk 607743 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 2; FRS2 FGFR SUBSTRATE 2;; FRS2-ALPHA; FRS2A;; SUC1-ASSOCIATED NEUROTROPHIC FACTOR TARGET 1; SNT1; SNT Asterisk 607744 FIBROBLAST GROWTH FACTOR RECEPTOR SUBSTRATE 3; FRS3 FGFR SUBSTRATE 3;; FRS2-BETA; FRS2B;; SUC1-ASSOCIATED NEUROTROPHIC FACTOR TARGET 2; SNT2 Number Sign 607745 SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; BFIC3;; SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; BFNIS Asterisk 607746 FERMITIN FAMILY, MEMBER 2; FERMT2 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY C, MEMBER 1; PLEKHC1;; MITOGEN-INDUCIBLE GENE 2; MIG2;; UNC112, C. ELEGANS, HOMOLOG OF; UNC112;; KINDLIN 2; KIND2 Asterisk 607747 FILAMIN-BINDING LIM PROTEIN 1; FBLP1 MIG2- AND FILAMIN-INTERACTING PROTEIN; MIGFILIN Number Sign 607748 HYPERCHOLANEMIA, FAMILIAL; FHCA Asterisk 607749 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 3; CDCA3 TRIGGER OF MITOTIC ENTRY 1; TOME1 Asterisk 607750 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3C; APOBEC3C A3C Asterisk 607751 TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38 TRANSFORMING GROWTH FACTOR BETA-STIMULATED CLONE 22; TSC22;; PTC;; T2R61 Asterisk 607752 CYCLIN O; CCNO URACIL-DNA GLYCOSYLASE 2; UNG2; UDG2;; URACIL-DNA GLYCOSYLASE, CYCLIN-LIKE Asterisk 607753 SINGLE-STRAND-SELECTIVE MONOFUNCTIONAL URACIL-DNA GLYCOSYLASE 1 SMUG1 Asterisk 607754 MAKORIN 1; MKRN1 Asterisk 607755 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 2; MAPK8IP2 JNK-INTERACTING PROTEIN 2; JIP2;; ISLET-BRAIN 2; IB2 Asterisk 607756 ALPHA-AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE-PHOSPHOPANTETHEINYL TRANSFERASE; AASDHPPT AASDPPT;; LYS5, S. CEREVISIAE, HOMOLOG OF;; CGI-80;; DKFZP566E2346 Asterisk 607757 CHIBBY; CBY HS508I15A;; C22ORF2 Asterisk 607758 CATENIN, BETA-INTERACTING PROTEIN 1; CTNNBIP1 INHIBITOR OF BETA-CATENIN AND TCF4; ICAT Asterisk 607759 INTEGRIN, ALPHA-2B; ITGA2B PLATELET GLYCOPROTEIN IIb; GP2B;; GP IIb;; PLATELET FIBRINOGEN RECEPTOR, ALPHA SUBUNIT;; CD41B PLATELET-SPECIFIC ANTIGEN BAK, INCLUDED Asterisk 607760 DNA TOPOISOMERASE II-BINDING PROTEIN 1; TOPBP1 KIAA0259 Asterisk 607761 KIN OF IRRE-LIKE 3; KIRREL3 NEPHRIN-LIKE 2; NEPH2;; KIAA1867;; KIRRE, MOUSE, HOMOLOG OF Asterisk 607762 KIN OF IRRE-LIKE 2; KIRREL2 NEPHRIN-LIKE 3; NEPH3;; NEPHRIN-LIKE GENE 1; NLG1;; FILTRIN Asterisk 607763 CENTAURIN, BETA-1; CENTB1 KIAA0050;; ARF-GAP WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 1; ACAP1 Asterisk 607764 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE; HSD3B7 C27-3-BETA-HSD Number Sign 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1 3-BETA-HYDROXY-DELTA-5-C27-STEROID OXIDOREDUCTASE DEFICIENCY Asterisk 607766 CENTAURIN, BETA-2; CENTB2 KIAA0041;; ARF-GAP WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 2; ACAP2 Asterisk 607767 SESTRIN 2; SESN2 SEST2;; HYPOXIA-INDUCED GENE 95; HI95 Asterisk 607768 SESTRIN 3; SESN3 SEST3 Asterisk 607769 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 4; PLEKHA4 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 1; PEPP1 Asterisk 607770 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 5; PLEKHA5 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 2; PEPP2;; KIAA1686 Asterisk 607771 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 6; PLEKHA6 PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING PH DOMAIN PROTEIN 3; PEPP3;; KIAA0969 Asterisk 607772 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 1; PLEKHA1 TANDEM PH DOMAIN-CONTAINING PROTEIN 1; TAPP1 Asterisk 607773 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 2; PLEKHA2 TANDEM PH DOMAIN-CONTAINING PROTEIN 2; TAPP2 Asterisk 607774 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 3; PLEKHA3 PHOSPHATIDYLINOSITOL 4-PHOSPHATE ADAPTOR PROTEIN 1; FAPP1 Asterisk 607775 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 4; KCNE4 MINIMUM POTASSIUM ION CHANNEL-RELATED PEPTIDE 3; MIRP3;; MINK-RELATED PEPTIDE 3 Asterisk 607776 SIN3, YEAST, HOMOLOG OF, A; SIN3A Asterisk 607777 SIN3, YEAST, HOMOLOG OF, B; SIN3B KIAA0700 Number Sign 607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD Asterisk 607779 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 7; PAQR7 MEMBRANE PROGESTIN RECEPTOR, ALPHA; MPRA;; PGLP, MOUSE, HOMOLOG OF; PGLP Asterisk 607780 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 8; PAQR8 CHROMOSOME 6 OPEN READING FRAME 33; C6ORF33;; LYSOSOMAL MEMBRANE PROTEIN, BRAIN-EXPRESSED, 1; LMPB1;; MEMBRANE PROGESTIN RECEPTOR, BETA; MPRB Asterisk 607781 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 5; PAQR5 MEMBRANE PROGESTIN RECEPTOR, GAMMA; MPRG Asterisk 607782 LUC7, S. CEREVISIAE, HOMOLOG OF; LUC7L LUC7-LIKE Asterisk 607783 MESODERM DEVELOPMENT CANDIDATE GENE 2; MESDC2 MESODERM DEVELOPMENT GENE; MESD;; KIAA0081;; BOCA, DROSOPHILA, HOMOLOG OF; BOCA MESDC2/SENP1 FUSION GENE, INCLUDED Asterisk 607784 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 4; ABCG4 WHITE, DROSOPHILA, HOMOLOG OF, 2; WHITE2 Number Sign 607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML LEUKEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOMONOCYTIC, INCLUDED; CMML, INCLUDED Asterisk 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9 NEURAL APOPTOSIS-REGULATED CONVERTASE 1; NARC1 Asterisk 607787 G PROTEIN-COUPLED RECEPTOR 180; GPR180 INTIMAL THICKNESS-RELATED RECEPTOR; ITR Asterisk 607788 MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2; MCFD2 Asterisk 607789 PHD FINGER PROTEIN 3; PHF3 KIAA0244 Asterisk 607790 TET ONCOGENE FAMILY, MEMBER 1; TET1 METHYLCYTOSINE DIOXYGENASE TET1;; TET ONCOGENE 1;; CXXC FINGER PROTEIN 6; CXXC6;; LEUKEMIA-ASSOCIATED PROTEIN WITH A CXXC DOMAIN; LCX;; KIAA1676 Number Sign 607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D; CMTDID CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D;; DI-CMTD Asterisk 607792 GERMINAL CENTER-ASSOCIATED, SIGNALING AND MOTILITY; GCSAM GERMINAL CENTER-EXPRESSED TRANSCRIPT 2; GCET2;; HGAL Asterisk 607793 PETER PAN, DROSOPHILA, HOMOLOG OF; PPAN SSF1, S. CEREVISIAE, HOMOLOG OF; SSF1 PPAN/P2RY11 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED Asterisk 607794 MEST INTRONIC TRANSCRIPT 1; MESTIT1 Asterisk 607795 PRECURSOR mRNA-PROCESSING FACTOR 4, S. CEREVISIAE, HOMOLOG OF; PRPF4 PRP4;; HPRP4 Asterisk 607796 PHD FINGER PROTEIN 11; PHF11 NY-REN-34 Asterisk 607797 SMALL NUCLEAR RIBONUCLEOPROTEIN, 40-KD; SNRNP40 U5 snRNP-SPECIFIC PROTEIN, 40-KD;; SPLICING FACTOR, 38-KD; SPF38;; PRPF8-BINDING PROTEIN; PRPF8BP Asterisk 607798 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1-LIKE; TAF1L TAF1 RNA POLYMERASE II-LIKE Asterisk 607799 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 17; ZDHHC17 HUNTINGTIN-INTERACTING PROTEIN 14; HIP14 Asterisk 607800 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12; ABCA12 Caret 607801 MOVED TO 606072 Asterisk 607802 CYCLIN M1; CNNM1 ANCIENT CONSERVED DOMAIN PROTEIN 1; ACDP1 Asterisk 607803 CYCLIN M2; CNNM2 ANCIENT CONSERVED DOMAIN PROTEIN 2; ACDP2 Asterisk 607804 CYCLIN M3; CNNM3 ANCIENT CONSERVED DOMAIN PROTEIN 3; ACDP3 Asterisk 607805 CYCLIN M4; CNNM4 ANCIENT CONSERVED DOMAIN PROTEIN 4; ACDP4;; KIAA1592 Asterisk 607806 OTOPETRIN 1; OTOP1 Asterisk 607807 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 13; ABCA13 Asterisk 607808 NK2 HOMEOBOX 4; NKX2-4 NK2, DROSOPHILA, HOMOLOG OF, D; NKX2D;; NKX2.4, MOUSE, HOMOLOG OF Asterisk 607809 ACETYL-CoA ACETYLTRANSFERASE 1; ACAT1 ACAT;; ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL;; T2;; MITOCHONDRIAL ACETOACETYL-CoA THIOLASE; MAT Asterisk 607810 RADICAL S-ADENOSYL METHIONINE DOMAIN-CONTAINING PROTEIN 2; RSAD2 VIRUS INHIBITORY PROTEIN, ENDOPLASMIC RETICULUM-ASSOCIATED, INTERFERON-INDUCIBLE; VIPERIN Asterisk 607811 p21-ACTIVATED KINASE- AND PHOSPHOLIPASE C-INTERACTING PROTEIN 1; PAK1IP1 PAK- AND PLC-INTERACTING PROTEIN 1; PIP1;; PAK1-INTERACTING PROTEIN Number Sign 607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD BOYADJIEV-JABS SYNDROME Asterisk 607813 PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 4; PLPPR4 PLASTICITY-RELATED GENE 1;; LIPID PHOSPHATE PHOSPHATASE-RELATED 4; LPPR4;; LPR4;; PRG1;; KIAA0455 Asterisk 607814 REGULATOR OF G PROTEIN SIGNALING 9-BINDING PROTEIN; RGS9BP RGS9-BINDING PROTEIN;; RGS9 ANCHOR PROTEIN; R9AP Asterisk 607815 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 1B; ANKS1B E2A/PBX1-ACTIVATED GENE IN PRE-B CELLS 1; EB1 Asterisk 607816 POLYCOMB GROUP RING FINGER PROTEIN 6; PCGF6 RING FINGER PROTEIN 134; RNF134;; MEL18- AND BMI1-LIKE RING FINGER PROTEIN; MBLR Asterisk 607817 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, B; VPS13B COH1 GENE; COH1;; KIAA0532 Asterisk 607818 ZINC FINGER PROTEIN 365; ZNF365 SU48;; KIAA0844 TALANIN, INCLUDED; TALN, INCLUDED Asterisk 607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5 ZINC TRANSPORTER 5; ZNT5;; ZNT1-LIKE 1; ZTL1 Asterisk 607820 HOOK, DROSOPHILA, HOMOLOG OF, 1; HOOK1 HK1 Number Sign 607821 DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37 Number Sign 607822 ALZHEIMER DISEASE 3; AD ALZHEIMER DISEASE 3, EARLY-ONSET;; ALZHEIMER DISEASE, FAMILIAL, 3 ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED;; ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA, INCLUDED Number Sign 607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS Asterisk 607824 HOOK, DROSOPHILA, HOMOLOG OF, 2; HOOK2 HK2 Asterisk 607825 HOOK, DROSOPHILA, HOMOLOG OF, 3; HOOK3 HK3 Asterisk 607826 ADENOSYLHOMOCYSTEINASE-LIKE 2; AHCYL1 S-ADENOSYLHOMOCYSTEINE HYDROLASE-LIKE 1;; AHCY-LIKE 1;; DENDRITIC CELL-EXPRESSED AHCY-LIKE PROTEIN; DCAL;; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR 1-BINDING PROTEIN RELEASED WITH INOSITOL 1,4,5-TRISPHOSPHATE; IRBIT;; ITPR1-BINDING PROTEIN RELEASED WITH IP3 Asterisk 607827 OTOPETRIN 2; OTOP2 Asterisk 607828 OTOPETRIN 3; OTOP3 Number Sign 607829 MITRAL VALVE PROLAPSE 2; MVP2 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2;; MYXOMATOUS MITRAL VALVE PROLAPSE 2 Asterisk 607830 FRAS1 GENE; FRAS1 FRAS1;; KIAA1500 Number Sign 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K;; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED Number Sign 607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, SUSCEPTIBILITY TO Asterisk 607833 TACHYKININ 4; TAC4 PREPROTACHYKININ C; PPTC HEMOKININ 1, INCLUDED; HK1, INCLUDED Number Sign 607834 ANXIETY HARM AVOIDANCE, INCLUDED Asterisk 607835 SPLICING FACTOR 3B, 14-KD SUBUNIT p14;; SF3B, 14-KD SUBUNIT; SF3B14;; SPLICEOSOME-ASSOCIATED PROTEIN, 14-KD; SAP14;; PRE-mRNA BRANCH SITE PROTEIN p14 Number Sign 607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 2; VAMAS2;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED Asterisk 607837 CLN8 GENE; CLN8 Asterisk 607838 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG GNPTAG Asterisk 607839 GLYCOGEN BRANCHING ENZYME; GBE1 GBE;; 1,4-ALPHA-GLUCAN BRANCHING ENZYME;; AMYLO-(1,4 to 1,6) TRANSGLUCOSIDASE;; AMYLO-(1,4 to 1,6) TRANSGLYCOSYLASE Asterisk 607840 N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB GNPTA;; MGC4170 Percent 607841 DEAFNESS, AUTOSOMAL DOMINANT 48; DFNA48 Number Sign 607842 AURAL ATRESIA, CONGENITAL; CAA AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA Asterisk 607843 PKHD1-LIKE 1; PKHD1L1 FIBROCYSTIN-L Asterisk 607844 LEM DOMAIN-CONTAINING PROTEIN 3; LEMD3 INTEGRAL INNER NUCLEAR MEMBRANE PROTEIN;; MAN ANTIGEN 1; MAN1 Asterisk 607845 EXPORTIN 5; XPO5 KIAA1291 Asterisk 607846 METHYLTRANSFERASE-LIKE 2; METTL2 METL, DROSOPHILA, HOMOLOG OF; METL Number Sign 607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS NONIMMUNE CHRONIC IDIOPATHIC NEUTROPENIA OF ADULTS;; NI-CINA Asterisk 607848 RAB-INTERACTING LYSOSOMAL PROTEIN; RILP Asterisk 607849 RETINOL DEHYDROGENASE 11; RDH11 PROSTATE SHORT-CHAIN DEHYDROGENASE/REDUCTASE 1; PSDR1;; RETINAL REDUCTASE 1; RALR1 Number Sign 607850 OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3 OSTEOARTHRITIS OF KNEE/HIP Asterisk 607851 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 1; NKD1 Asterisk 607852 NAKED CUTICLE, DROSOPHILA, HOMOLOG OF, 2; NKD2 Percent 607853 PANIC DISORDER 2 PAND2;; PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED Asterisk 607854 BESTROPHIN 1; BEST1 VMD2 GENE;; TU15B Number Sign 607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDED Asterisk 607856 CINGULIN-LIKE 1; CGNL1 FLJ14957;; KIAA1749 CGNL1/CYP19A1 FUSION GENE, INCLUDED Percent 607857 PSORIASIS 9, SUSCEPTIBILITY TO; PSORS9 Asterisk 607858 PRESENILIN-ASSOCIATED RHOMBOID-LIKE PROTEIN; PARL NULL 607859 ANGIOMA, TUFTED TUFTED ANGIOMA Asterisk 607860 YY1 ASSOCIATED PROTEIN 1; YY1AP1 YY1-ASSOCIATED PROTEIN; YAP;; HEPATOCELLULAR CARCINOMA-ASSOCIATED PROTEIN 2; HCCA2 Asterisk 607861 DAPPER, ANTAGONIST OF BETA-CATENIN, 1; DACT1 DAPPER, XENOPUS, HOMOLOG OF, 1; DPR1;; DAPPER1;; FRODO Asterisk 607862 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 1; DIRAS1 DISTINCT SUBGROUP OF THE RAS FAMILY, MEMBER 1;; RAS-RELATED INHIBITOR OF CELL GROWTH; RIG Asterisk 607863 DIRAS FAMILY, GTP-BINDING RAS-LIKE PROTEIN 2; DIRAS2 DISTINCT SUBGROUP OF THE RAS FAMILY, MEMBER 2 Number Sign 607864 CAUDAL DUPLICATION ANOMALY Asterisk 607865 SET DOMAIN PROTEIN, BIFURCATED, 2; SETDB2 CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 8; CLLD8 Asterisk 607866 SPRY DOMAIN-CONTAINING PROTEIN 7; SPRYD7 CHROMOSOME 13 OPEN READING FRAME 1; C13ORF1;; CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 6; CLLD6 Asterisk 607867 RCC1 DOMAIN- AND BTB DOMAIN-CONTAINING PROTEIN 1; RCBTB1 CHRONIC LYMPHOCYTIC LEUKEMIA DELETION REGION GENE 7; CLLD7;; GDP/GTP EXCHANGE FACTOR-LIKE PROTEIN; GLP Asterisk 607868 TRIPARTITE MOTIF-CONTAINING PROTEIN 11; TRIM11 Asterisk 607869 UNC5, C. ELEGANS, HOMOLOG OF, A; UNC5A UNC5H1 Asterisk 607870 UNC5, C. ELEGANS, HOMOLOG OF, B; UNC5B UNC5H2 Asterisk 607871 F-BOX ONLY PROTEIN 11; FBXO11 FBX11;; VITILIGO-ASSOCIATED PROTEIN 1; VIT1;; PROTEIN ARGININE METHYLTRANSFERASE 9; PRMT9 Number Sign 607872 CHROMOSOME 1p36 DELETION SYNDROME MONOSOMY 1p36 SYNDROME Asterisk 607873 SCAVENGER RECEPTOR CLASS F, MEMBER 1; SCARF1 SCAVENGER RECEPTOR EXPRESSED BY ENDOTHELIAL CELLS; SREC;; SREC1;; SREC I;; KIAA0149 Asterisk 607874 ZINC FINGER PROTEIN 444; ZNF444 ENDOTHELIAL ZINC FINGER PROTEIN 2; EZF2 Asterisk 607875 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE K; INPP5K SKELETAL MUSCLE- AND KIDNEY-ENRICHED INOSITOL PHOSPHATASE; SKIP Number Sign 607876 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2; BAFME2;; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2; FCMTE2;; CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT; ADCME Asterisk 607877 OTOSPIRALIN OTOSP Asterisk 607878 NICOTINAMIDE NUCLEOTIDE TRANSHYDROGENASE; NNT Asterisk 607879 EXOCYST COMPLEX COMPONENT 1; EXOC1 SEC3, S. CEREVISIAE, HOMOLOG OF; SEC3 Asterisk 607880 EXOCYST COMPLEX COMPONENT 6B; EXOC6B SEC15, S. CEREVISIAE, HOMOLOG OF, B; SEC15B;; KIAA0919 Asterisk 607881 SIGNAL-TRANSDUCING ADAPTOR PROTEIN 2 STAP2;; BREAST TUMOR KINASE SUBSTRATE; BKS;; BRK SUBSTRATE Asterisk 607882 SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 2; SLC52A2 G PROTEIN-COUPLED RECEPTOR 172A; GPR172A;; G PROTEIN-COUPLED RECEPTOR 41; GPCR41;; PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 1; PAR1;; PERV-A RECEPTOR 1;; RIBOFLAVIN TRANSPORTER 3; RFT3;; RFVT2;; FLJ11856 Asterisk 607883 SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 1; SLC52A1 G PROTEIN-COUPLED RECEPTOR 172B; GPR172B;; G PROTEIN-COUPLED RECEPTOR 42; GPCR42;; PORCINE ENDOGENOUS RETROVIRUS, SUBGROUP A, RECEPTOR 2; PAR2;; PERV-A RECEPTOR 2;; RIBOFLAVIN TRANSPORTER 1; RFT1; RFVT1;; FLJ10060 Asterisk 607884 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 1; CMTM1 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 1; CKLFSF1 Asterisk 607885 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 2; CMTM2 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 2; CKLFSF2 Asterisk 607886 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 3; CMTM3 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 3; CKLFSF3 Asterisk 607887 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 4; CMTM4 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 4; CKLFSF4 Asterisk 607888 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 5; CMTM5 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 5; CKLFSF5 Asterisk 607889 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 6; CMTM6 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 6; CKLFSF6 Asterisk 607890 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 7; CMTM7 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 7; CKLFSF7 Asterisk 607891 CKLF-LIKE MARVEL TRANSMEMBRANE DOMAIN-CONTAINING 8; CMTM8 CHEMOKINE-LIKE FACTOR SUPERFAMILY, MEMBER 8; CKLFSF8 Asterisk 607892 DESMOGLEIN 4; DSG4 Percent 607893 OVARIAN CANCER, SUSCEPTIBILITY TO, 1; OVCAS1 Asterisk 607894 POLYCYSTIN 1-LIKE 2; PKD1L2 PC1L2;; KIAA1879 Asterisk 607895 POLYCYSTIN 1-LIKE 3; PKD1L3 Asterisk 607896 OVARIAN CANCER-ASSOCIATED GENE 2 OVCA2 Asterisk 607897 MUSASHI, DROSOPHILA, HOMOLOG OF, 2; MSI2 MSI2/HOXA9 FUSION GENE, INCLUDED Asterisk 607898 TRIBBLES, DROSOPHILA, HOMOLOG OF, 3; TRIB3 TRB3;; NERVE GROWTH FACTOR-INDUCED PROTEIN KINASE; NIPK;; p65-INTERACTING INHIBITOR OF NFKB; SINK;; SKIP3;; CHROMOSOME 20 OPEN READING FRAME 97; C20ORF97 Asterisk 607899 WT1 ANTISENSE RNA; WT1AS WIT1 GENE Asterisk 607900 FERMITIN FAMILY, MEMBER 1; FERMT1 KINDLIN 1; KIND1;; KINDLERIN;; UNC112-RELATED PROTEIN 1; URP1;; CHROMOSOME 20 OPEN READING FRAME 42; C20ORF42 Asterisk 607901 FERMITIN FAMILY, MEMBER 3; FERMT3 UNC112-RELATED PROTEIN 2; URP2;; KINDLIN 3; KIND3;; MIG2B Asterisk 607902 SNURPORTIN 1; SNUPN RNA, U TRANSPORTER 1; RNUT1 Number Sign 607903 HYPOTRICHOSIS 6; HYPT6 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; LAH1;; HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH;; HTL;; MONILETHRIX-LIKE HYPOTRICHOSIS Asterisk 607904 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1H SUBUNIT; CACNA1H Asterisk 607905 ALG2, S. CEREVISIAE, HOMOLOG OF; ALG2 Number Sign 607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I CDG Ii; CDGIi Number Sign 607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP GIANT CELL FIBROBLASTOMA Asterisk 607908 LIM AND SENESCENT CELL ANTIGEN-LIKE DOMAINS 2; LIMS2 PARTICULARLY INTERESTING NEW CYS-HIS PROTEIN 2; PINCH2 Asterisk 607909 ANTIZYME INHIBITOR 1; AZIN1 ORNITHINE DECARBOXYLASE ANTIZYME INHIBITOR; OAZIN Asterisk 607910 KINESIN FAMILY MEMBER 9; KIF9 Asterisk 607911 EPM2A-INTERACTING PROTEIN 1; EPM2AIP1 LAFORIN-INTERACTING PROTEIN 1;; KIAA0766 Asterisk 607912 SELENOPROTEIN T; SELENOT SELT Asterisk 607913 GLUTATHIONE PEROXIDASE 6; GPX6 Asterisk 607914 SELENOPROTEIN H; SELENOH SELH Asterisk 607915 SELENOPROTEIN I; SELENOI SELI Asterisk 607916 SELENOPROTEIN K; SELENOK SELK;; HSPC030 Asterisk 607917 SELENOPROTEIN O; SELENOO SELO Asterisk 607918 SELENOPROTEIN S; SELENOS SELS;; SEPS1;; VCP-INTERACTING MEMBRANE PROTEIN; VIMP;; AD-015 Asterisk 607919 SELENOPROTEIN V; SELENOV SELV Caret 607920 MOVED TO 159001 Number Sign 607921 RETINITIS PIGMENTOSA 30; RP30 MACULAR DEGENERATION, INCLUDED Asterisk 607922 ALPHA-1,4-GALACTOSYLTRANSFERASE; A4GALT 4-N-ACETYLGLUCOSAMINYLTRANSFERASE;; GB3 SYNTHASE;; P(k) ANTIGEN SYNTHASE;; CD77 SYNTHASE Asterisk 607923 SYNAPTOSOMAL-ASSOCIATED PROTEIN, 91-KD; SNAP91 ASSEMBLY PROTEIN, 180-KD; AP180;; KIAA0656 Asterisk 607924 METASTASIS-ASSOCIATED LUNG ADENOCARCINOMA TRANSCRIPT 1; MALAT1 ALPHA GENE;; PRO1073;; NONCODING NUCLEAR-ENRICHED ABUNDANT TRANSCRIPT 2; NEAT2;; NONCODING RNA 47; NCRNA00047 ALPHA/TFEB FUSION GENE, INCLUDED;; MALAT1-ASSOCIATED SMALL CYTOPLASMIC RNA, INCLUDED; MASCRNA, INCLUDED Asterisk 607925 B- AND T-LYMPHOCYTE ATTENUATOR; BTLA B- AND T-LYMPHOCYTE-ASSOCIATED PROTEIN Asterisk 607926 HOST CELL FACTOR C2; HCFC2 HCF2 Asterisk 607927 ANKYRIN REPEATS- AND FYVE DOMAIN-CONTAINING PROTEIN 1; ANKFY1 ANKYRIN REPEATS HOOKED TO A ZINC FINGER MOTIF; ANKHZN;; KIAA1255 Asterisk 607928 WHIRLIN; WHRN CASK-INTERACTING PROTEIN, 98-KD; CIP98;; KIAA1526 Asterisk 607929 CCM2 GENE; CCM2 MALCAVERNIN;; CHROMOSOME 7 OPEN READING FRAME 22; C7ORF22;; OSMOSENSING SCAFFOLD FOR MEKK3; OSM Asterisk 607930 CYTOKINE-LIKE PROTEIN 1; CYTL1 C17 Asterisk 607931 ATAXIN 2-LIKE; ATXN2L Number Sign 607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 MICROPHTHALMIA AND PITUITARY ANOMALIES;; MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES;; ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITAL ANOMALIES, AND ABNORMAL EXTERNAL GENITALIA Asterisk 607933 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 11; SLC7A11 SYSTEM Xc(-) TRANSPORTER-RELATED PROTEIN; XCT Asterisk 607934 PEPTIDYLARGININE DEIMINASE, TYPE I; PADI1 Asterisk 607935 PEPTIDYLARGININE DEIMINASE, TYPE II; PADI2 Number Sign 607936 PEELING SKIN SYNDROME 4; PSS4 ICHTHYOSIS BULLOSA OF SIEMENS-LIKE;; ICHTHYOSIS, EXFOLIATIVE, AUTOSOMAL RECESSIVE; AREI Asterisk 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG FLJ12581 Asterisk 607938 NEUROTRIMIN; NTM HNT;; IGLON2 Asterisk 607939 SULFATASE-MODIFYING FACTOR 1; SUMF1 C-ALPHA-FORMYLGLYCINE-GENERATING ENZYME; FGE;; FGLY-GENERATING ENZYME Asterisk 607940 SULFATASE-MODIFYING FACTOR 2; SUMF2 Number Sign 607941 ATRIAL SEPTAL DEFECT 2; ASD2 Asterisk 607942 PHOSPHOINOSITIDE 3-KINASE ADAPTOR PROTEIN 1; PIK3AP1 PIK3 ADAPTOR PROTEIN 1;; B-CELL ADAPTOR PROTEIN; BCAP;; FLJ35564 Asterisk 607943 RAS p21 PROTEIN ACTIVATOR 4; RASA4 Ca(2+)-PROMOTED RAS INACTIVATOR; CAPRI;; GTPase-ACTIVATING PROTEIN-LIKE; GAPL;; CALCIUM-RAS PROMOTED INACTIVATOR;; KIAA0538 Number Sign 607944 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI SPENCD;; COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA;; ROIFMAN IMMUNOSKELETAL SYNDROME Asterisk 607945 ADIPONECTIN RECEPTOR 1; ADIPOR1 CGI45;; PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 1; PAQR1 Asterisk 607946 ADIPONECTIN RECEPTOR 2; ADIPOR2 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 2; PAQR2 Asterisk 607947 POTASSIUM CHANNEL REGULATOR; KCNRG DLTET Number Sign 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED Percent 607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 MTBS1 Asterisk 607950 TESTIS-SPECIFIC PROTEASE 50 TSP50 Asterisk 607951 CENTROSOMAL PROTEIN, 57-KD; CEP57 PROLIFERATION-INDUCING GENE 8; PIG8;; TESTES-SPECIFIC PROTEIN 57; TSP57;; TRANSLOKIN;; KIAA0092 Asterisk 607952 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 11; SLC6A11 GABA TRANSPORTER 3, RAT, HOMOLOG OF; GAT3;; GABA TRANSPORTER 4, MOUSE, HOMOLOG OF; GAT4 Asterisk 607953 NEURONAL PROTEIN, 25-KD, RAT, HOMOLOG OF NP25;; NEURONAL PROTEIN, 22-KD; NP22 Asterisk 607954 RAN GUANINE NUCLEOTIDE RELEASE FACTOR RANGNRF;; MOG1, S. CEREVISIAE, HOMOLOG OF; MOG1 Asterisk 607955 STERILE ALPHA MOTIFS- AND SH3 DOMAIN-CONTAINING PROTEIN 1; SASH1 KIAA0790 Asterisk 607956 MEDIATOR COMPLEX SUBUNIT 8; MED8 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 8, S. CEREVISIAE, HOMOLOG OF Asterisk 607957 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-DELTA; CAMK1D CAMK1-LIKE PROTEIN KINASE; CKLIK Asterisk 607958 SYNTAXIN-BINDING PROTEIN 6; STXBP6 AMISYN;; HSPC156 Asterisk 607959 SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 10; SLC7A10 ASC1 Asterisk 607960 DEAH BOX POLYPEPTIDE 32; DHX32 DDX32 Asterisk 607961 SEMAPHORIN 7A; SEMA7A SEMAPHORIN L; SEMAL;; SEMAPHORIN K1; SEMAK1;; CDW108 Asterisk 607962 MICRO RNA 23A; MIR23A miRNA23A;; MIRN23A Asterisk 607963 METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 1; MBD3L1 Asterisk 607964 METHYL-CpG BINDING DOMAIN PROTEIN 3-LIKE 2; MBD3L2 Percent 607965 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1; SLEN1 Percent 607966 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2; SLEN2 Percent 607967 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3; SLEN3 Asterisk 607968 PARATHYROID HORMONE-RESPONSIVE B1 GENE PTH-RESPONSIVE B1 GENE; B1; PTHB1;; BBS9 GENE; BBS9 Asterisk 607969 CDC-LIKE KINASE 4; CLK4 Asterisk 607970 G PROTEIN-COUPLED RECEPTOR 135; GPR135 Asterisk 607971 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 15; SLC6A15 TRANSPORTER V7-3, RAT, HOMOLOG OF;; V7-3;; SODIUM-COUPLED BRANCHED-CHAIN AMINO ACID TRANSPORTER 1; SBAT1 Asterisk 607972 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 16; SLC6A16 NTT5 Asterisk 607973 NEUROPILIN- AND TOLLOID-LIKE 1; NETO1 BRAIN-SPECIFIC TRANSMEMBRANE PROTEIN 1; BCTL1 Asterisk 607974 NEUROPILIN- AND TOLLOID-LIKE 2; NETO2 Asterisk 607975 OXIDATIVE STRESS-INDUCED GROWTH INHIBITOR 1; OSGIN1 PREGNANCY-INDUCED GROWTH INHIBITOR OKL38; OKL38 Asterisk 607976 CYTOCHROME c OXIDASE, SUBUNIT 4I2; COX4I2 CYTOCHROME c OXIDASE, SUBUNIT IV, ISOFORM 2;; COX IV-2;; COX4-2 Asterisk 607977 HEADCASE, DROSOPHILA, HOMOLOG OF; HECA HDC Asterisk 607978 SAM DOMAIN, SH3 DOMAIN, AND NUCLEAR LOCALIZATION SIGNALS 1; SAMSN1 HEMATOPOIETIC ADAPTOR CONTAINING SH3 AND SAM DOMAINS 1; HACS1 Asterisk 607979 SERINE HYDROLASE-LIKE; SERHL Asterisk 607980 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 7, YEAST, HOMOLOG OF; TOMM7 TOM7 Asterisk 607981 NEGATIVE REGULATOR OF UBIQUITIN-LIKE PROTEINS 1; NUB1 NEDD8 ULTIMATE BUSTER 1;; NY-REN-18 Asterisk 607982 SCY1-LIKE 1; SCYL1 SCY1, S. CEREVISIAE, HOMOLOG OF, 1;; N-TERMINAL KINASE-LIKE; NTKL Asterisk 607983 GOLGIN, RAB6-INTERACTING; GORAB SCYL1-BINDING PROTEIN 1; SCYL1BP1;; NTKL-BINDING PROTEIN 1; NTKLBP1 Asterisk 607984 SPROUTY, DROSOPHILA, HOMOLOG OF, 4; SPRY4 Asterisk 607985 N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE; NAGPA PHOSPHODIESTER GLYCOSIDE;; PHOSPHODIESTER ALPHA-GlcNAcase;; MANNOSE 6-PHOSPHATE-UNCOVERING ENZYME; UCE Asterisk 607986 S100 CALCIUM-BINDING PROTEIN A14; S100A14 BCMP84 Asterisk 607987 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 10; DNAJC10 ENDOPLASMIC RETICULUM RESIDENT PROTEIN ERDJ5; ERDJ5;; J DOMAIN-CONTAINING PROTEIN DISULFIDE ISOMERASE-LIKE PROTEIN; JPDI;; J DOMAIN-CONTAINING PDI-LIKE PROTEIN Asterisk 607988 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 2; SPOCK2 TESTICAN 2;; KIAA0275 Asterisk 607989 SPARC/OSTEONECTIN, CWCV, AND KAZAL-LIKE DOMAINS PROTEOGLYCAN 3; SPOCK3 TESTICAN 3 N-TES, INCLUDED Asterisk 607990 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1; UHRF1 INVERTED CCAAT BOX-BINDING PROTEIN, 90-KD; ICBP90;; NUCLEAR PHOSPHOPROTEIN, 95-KD; NP95 Asterisk 607991 SOLUTE CARRIER FAMILY 8 (SODIUM-CALCIUM EXCHANGER), MEMBER A3; SLC8A3 SODIUM-CALCIUM EXCHANGER 3; NCX3 Asterisk 607992 SURP AND G-PATCH DOMAINS-CONTAINING PROTEIN 1; SUGP1 SPLICING FACTOR 4; SF4 Asterisk 607993 SURP AND G-PATCH DOMAINS-CONTAINING PROTEIN 2; SUGP2 SPLICING FACTOR, ARGININE/SERINE-RICH, 14; SFRS14;; KIAA0365 Asterisk 607994 5-PRIME,3-PRIME-EXORIBONUCLEASE 1; XRN1 STRAND EXCHANGE PROTEIN 1; SEP1 Asterisk 607995 UNC93, C. ELEGANS, HOMOLOG OF, A; UNC93A Asterisk 607996 PREPRONEUROPEPTIDE B PPNPB;; PREPRO-G PROTEIN-COUPLED RECEPTOR 7 LIGAND; PPL7;; PREPRO-GPCR7 LIGAND NEUROPEPTIDE B, INCLUDED; NPB, INCLUDED;; G PROTEIN-COUPLED RECEPTOR 7 LIGAND, INCLUDED; L7, INCLUDED;; GPCR7 LIGAND, INCLUDED;; GPCR7 LIGAND WITH C-TERMINAL EXTENSION, INCLUDED; L7C, INCLUDED Asterisk 607997 NEUROPEPTIDE W; NPW G PROTEIN-COUPLED RECEPTOR 8 LIGAND; L8;; GPCR8 LIGAND PREPRONEUROPEPTIDE W, INCLUDED; PPNPW, INCLUDED;; PREPRO-G PROTEIN-COUPLED RECEPTOR 8 LIGAND, INCLUDED; PPL8, INCLUDED;; PREPRO-GPCR8 LIGAND, INCLUDED;; GPCR8 LIGAND WITH C-TERMINAL EXTENSION, INCLUDED; L8C, INCLUDED Asterisk 607998 TRIPEPTIDYL PEPTIDASE I; TPP1 TPP I;; CLN2 GENE; CLN2 Asterisk 607999 ASH1-LIKE; ASH1L ASH1, DROSOPHILA, HOMOLOG OF; ASH1;; LYSINE-SPECIFIC METHYLTRANSFERASE 2H; KMT2H;; KIAA1420 Asterisk 608000 N-ALPHA-ACETYLTRANSFERASE 15, NatA AUXILIARY SUBUNIT; NAA15 NMDA RECEPTOR-REGULATED 1; NARG1;; NAT1, S. CEREVISIAE, HOMOLOG OF; NATH Asterisk 608001 MELANOMA INHIBITORY ACTIVITY PROTEIN 2; MIA2 Asterisk 608002 NEPHROCYSTIN 3; NPHP3 Asterisk 608003 HOMEODOMAIN-INTERACTING PROTEIN KINASE 1; HIPK1 KIAA0630 Asterisk 608004 NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, ZETA; NFKBIZ INTERLEUKIN 1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN;; IL1-INDUCED NUCLEAR ANKYRIN REPEAT PROTEIN; INAP;; MOLECULE POSSESSING ANKYRIN REPEATS INDUCED BY LIPOPOLYSACCHARIDE; MAIL;; I-KAPPA-B-ZETA; IKBZ Asterisk 608005 SIL1, S. CEREVISIAE, HOMOLOG OF; SIL1 BIP-ASSOCIATED PROTEIN; BAP Asterisk 608006 LEIOMODIN 2; LMOD2 LEIOMODIN, CARDIAC; CLMOD Asterisk 608007 PLECKSTRIN 2; PLEK2 Asterisk 608008 ANNEXIN A10; ANXA10 Asterisk 608009 ADENYLATE KINASE 5; AK5 Asterisk 608010 NPC1-LIKE 1; NPC1L1 Asterisk 608011 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 3; GNL3 NUCLEOSTEMIN; NS;; E2-INDUCED GENE 3; E2IG3 Asterisk 608012 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 2; PDIA2 PROTEIN DISULFIDE ISOMERASE, PANCREATIC; PDIP Number Sign 608013 GAUCHER DISEASE, PERINATAL LETHAL GAUCHER DISEASE, COLLODION TYPE Asterisk 608014 HEAT-SHOCK 22-KD PROTEIN 8; HSPB8 HSP22;; PROTEIN KINASE H11; H11;; E2-INDUCED GENE 1; E2IG1;; HEAT-SHOCK 27-KD PROTEIN 8 Asterisk 608015 TSUKUSHIN; TSKU TSUKUSHI, CHICKEN, HOMOLOG OF; TSK;; E2-INDUCED GENE 4; E2IG4 Asterisk 608016 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 8; CHCHD8 E2-INDUCED GENE 2; E2IG2 Asterisk 608017 FAMILY WITH SEQUENCE SIMILARITY 162, MEMBER A; FAM162A CHROMOSOME 3 OPEN READING FRAME 28; C3ORF28;; E2-INDUCED GENE 5; E2IG5 Asterisk 608018 PANCREASIN Asterisk 608019 TNFAIP3-INTERACTING PROTEIN 3; TNIP3 LISTERIA-INDUCED GENE; LIND;; FLJ21162 Asterisk 608020 NUCLEOBINDIN 2; NUCB2 NEFA Asterisk 608021 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING PROTEIN 1; WFIKKN1 WFIKKN;; GDF-ASSOCIATED SERUM PROTEIN 2; GASP2 Number Sign 608022 DIAPHANOSPONDYLODYSOSTOSIS VERTEBRAL OSSIFICATION, DEFECT IN, WITH NEPHROGENIC RESTS Asterisk 608023 DEAD/H BOX 56; DDX56 NUCLEOLAR HELICASE, 61-KD; NOH61 Asterisk 608024 PEROXISOMAL D3,D2-ENOYL-CoA ISOMERASE; PECI DIAZEPAM BINDING INHIBITOR-RELATED SEQUENCE 1; DRS1;; DBI-RELATED SEQUENCE 1 Asterisk 608025 NEUROBLASTOMA-AMPLIFIED SEQUENCE; NBAS NEUROBLASTOMA-AMPLIFIED GENE; NAG Percent 608026 HYPERTENSIVE NEPHROPATHY; HNP1 Number Sign 608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;; PCH WITH OPTIC ATROPHY NULL 608028 THAI SYMPHALANGISM SYNDROME Percent 608029 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6 CEREBELLAR ATAXIA, INFANTILE NONPROGRESSIVE, AUTOSOMAL RECESSIVE;; NORWEGIAN INFANTILE ONSET ATAXIA Number Sign 608030 AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS6 Percent 608031 AMYOTROPHIC LATERAL SCLEROSIS 7; ALS7 Caret 608032 MOVED TO 127500 Number Sign 608033 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3 ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO; ANE Asterisk 608034 ASPARTOACYLASE; ASPA AMINOACYLASE 2; ACY2 Percent 608035 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4; CMM4 Percent 608036 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4 NIDDM4;; NONINSULIN-DEPENDENT DIABETES MELLITUS 4 Asterisk 608037 CHONDROITIN POLYMERIZING FACTOR 2; CHPF2 CHONDROITIN SULFATE GLUCURONYLTRANSFERASE; CSGlcAT;; KIAA1402 Asterisk 608038 p21 PROTEIN-ACTIVATED KINASE 7; PAK7 p21 CDC42/RAC1-ACTIVATED KINASE 7;; PAK5;; KIAA1264 Asterisk 608039 NYD-SP16 FLJ35906 Asterisk 608040 INTRAFLAGELLAR TRANSPORT 74, CHLAMYDOMONAS, HOMOLOG OF; IFT74 COILED-COIL DOMAIN-CONTAINING PROTEIN 2; CCDC2;; CAPILLARY MORPHOGENESIS GENE 1; CMG1 Asterisk 608041 ANTHRAX TOXIN RECEPTOR 2; ANTXR2 CAPILLARY MORPHOGENESIS GENE 2; CMG2 Asterisk 608042 SYNAPTOTAGMIN-LIKE 1; SYTL1 SLP1;; C2 DOMAIN-CONTAINING PROTEIN JFC1; JFC1 Asterisk 608043 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 10; GALNT10 GalNAc TRANSFERASE 10; GalNAcT10 Asterisk 608044 SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8 APICAL IODIDE TRANSPORTER; AIT;; SODIUM-COUPLED MONOCARBOXYLATE TRANSPORTER; SMCT;; SMCT1 Percent 608045 REPRESSOR OF TELOMERASE EXPRESSION 1 RTE1 Asterisk 608046 SYNOVIAL APOPTOSIS INHIBITOR 1; SYVN1 SYNOVIOLIN;; HRD1, S. CEREVISIAE, HOMOLOG OF; HRD1;; KIAA1810 Asterisk 608047 UBIQUITIN-PROTEIN LIGASE E3B; UBE3B Asterisk 608048 SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING PROTEIN; SHPRH RAD5, YEAST, HOMOLOG OF Percent 608049 AUTISM, SUSCEPTIBILITY TO, 3; AUTS3 Asterisk 608050 TORSIN 1B; TOR1B TORSIN B;; DQ1 Number Sign 608051 MACULAR DYSTROPHY, RETINAL, 2; MCDR2 Asterisk 608052 TORSIN 2A; TOR2A TORSIN-RELATED PROTEIN 1; TORP1 PREPROSALUSIN, INCLUDED;; SALUSIN-ALPHA, INCLUDED;; SALUSIN-BETA, INCLUDED Asterisk 608053 ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE; ETFA Asterisk 608054 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 7; CYP2A7 Asterisk 608055 CYTOCHROME P450, SUBFAMILY IIA, POLYPEPTIDE 13; CYP2A13 Caret 608056 MOVED TO 151660 Asterisk 608057 DEOXYRIBONUCLEASE II BETA; DNASE2B DNase II-BETA;; DNASE2-LIKE ACID DNase; DLAD Asterisk 608058 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 2; G6PC2 ISLET-SPECIFIC GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; IGRP;; ISLET-SPECIFIC G6CP-RELATED PROTEIN Asterisk 608059 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 7; HES7 Asterisk 608060 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 4 HES4 Asterisk 608061 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 40, YEAST, HOMOLOG OF; TOMM40 TOM40;; PEREC1 Asterisk 608062 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 1; DCDC1 NULL 608063 BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF Asterisk 608064 KELCH-LIKE 5; KLHL5 Asterisk 608065 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 4; SLC38A4 NEUTRAL AMINO ACID TRANSPORTER 3; NAT3;; N-SYSTEM AMINO ACID TRANSPORTER 3;; AMINO ACID TRANSPORTER A3; ATA3 Asterisk 608066 SCAFFOLD ATTACHMENT FACTOR B2; SAFB2 KIAA0138 Asterisk 608067 RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 2; RFWD2 CONSTITUTIVE PHOTOMORPHOGENESIS PROTEIN 1, ARABIDOPSIS, HOMOLOG OF; COP1 Percent 608068 NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE AFND;; SWEET SYNDROME; SS;; GOMM-BUTTON DISEASE Asterisk 608069 ERBB RECEPTOR FEEDBACK INHIBITOR 1; ERRFI1 MITOGEN-INDUCIBLE GENE 6; MIG6;; RECEPTOR-ASSOCIATED LATE TRANSDUCER; RALT;; GENE 33, RAT, HOMOLOG OF Asterisk 608070 HOMOCYSTEINE- AND ENDOPLASMIC RETICULUM STRESS-INDUCIBLE PROTEIN, UBIQUITIN-LIKE DOMAIN-CONTAINING, 1; HERPUD1 HOMOCYSTEINE-RESPONSIVE ENDOPLASMIC RETICULUM RESIDENT PROTEIN; HERP;; METHYL METHANESULFONATE-INDUCIBLE FRAGMENT 1; MIF1;; KIAA0025 Asterisk 608071 F-BOX AND WD40 DOMAIN PROTEIN 4; FBXW4 FBW4; FBWD4;; DACTYLIN;; DACTYLAPLASIA, MOUSE, HOMOLOG OF;; DAC, MOUSE, HOMOLOG OF;; SHFM3 GENE, FORMERLY; SHFM3, FORMERLY Asterisk 608072 NHL REPEAT-CONTAINING PROTEIN 1; NHLRC1 EPM2B GENE; EPM2B;; MALIN Asterisk 608073 NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY, MEMBER 2; NPM2 Asterisk 608074 PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN; PDCD6IP PDCD6-INTERACTING PROTEIN;; ALG2-INTERACTING PROTEIN 1; AIP1;; ALG2-INTERACTING PROTEIN X; ALIX;; KIAA1375 Asterisk 608075 PHOSPHOLIPASE C, ZETA-1; PLCZ1 Asterisk 608076 TYROSINE KINASE, NONRECEPTOR, 1; TNK1 CD38-NEGATIVE KINASE Asterisk 608077 PURINERGIC RECEPTOR P2X-LIKE 1; P2RXL1 P2RX-LIKE 1;; P2X, SKELETAL MUSCLE-EXPRESSED; P2XM;; PURINORECEPTOR P2X6; P2X6 Percent 608078 SCHIZOPHRENIA 11 SCZD11;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED Asterisk 608079 ELAC, E. COLI, HOMOLOG OF, 1; ELAC1 DELETED IN MA29 CELL LINE; D29;; RIBONUCLEASE Z, SHORT FORM;; RNase ZS Asterisk 608080 MAESTRO; MRO GENE BESIDE THE MA29 DELETION; B29;; CHROMOSOME 18 OPEN READING FRAME 3; C18ORF3 Asterisk 608081 SYNAPTOTAGMIN 15; SYT15 Asterisk 608082 YIPPEE-LIKE 1; YPEL1 Asterisk 608083 APOLIPOPROTEIN C-II; APOC2 Asterisk 608084 GTPase, IMAP FAMILY, MEMBER 1; GIMAP1 IMMUNITY-ASSOCIATED PROTEIN 1; IMAP1 Asterisk 608085 GTPase, IMAP FAMILY, MEMBER 2; GIMAP2 IMMUNITY-ASSOCIATED PROTEIN 2; IMAP2 Asterisk 608086 GTPase, IMAP FAMILY, MEMBER 5; GIMAP5 IMMUNITY-ASSOCIATED NUCLEOTIDE 4-LIKE 1; IAN4L1;; IAN4-LIKE 1;; IMMUNITY-ASSOCIATED PROTEIN 3; IMAP3 Asterisk 608087 GTPase, IMAP FAMILY, MEMBER 4; GIMAP4 IMMUNITY-ASSOCIATED PROTEIN 4; IMAP4;; IMMUNITY-ASSOCIATED NUCLEOTIDE 1; IAN1 Percent 608088 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IB; HSAN1B;; NEUROPATHY, HEREDITARY SENSORY, TYPE IB; HSN1B Number Sign 608089 ENDOMETRIAL CANCER Asterisk 608090 MLX-INTERACTING PROTEIN; MLXIP MONDO FAMILY, MEMBER A; MONDOA;; KIAA0867 Number Sign 608091 JOUBERT SYNDROME 2; JBTS2 CEREBELLOOCULORENAL SYNDROME 2; CORS2 Asterisk 608092 PALLADIN, MOUSE, HOMOLOG OF; PALLD KIAA0992 Number Sign 608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J CDG Ij; CDGIj Asterisk 608094 SOLUTE CARRIER FAMILY 37 (SUGAR-PHOSPHATE TRANSPORTER), MEMBER 1; SLC37A1 GLYCEROL-3-PHOSPHATE PERMEASE; G3PP Asterisk 608095 SODIUM CHANNEL MODIFIER 1; SCNM1 MGC3180 Percent 608096 EPILEPSY, FAMILIAL TEMPORAL LOBE, 2; ETL2 FTLE Number Sign 608097 PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM PERIVENTRICULAR NODULAR HETEROTOPIA 2; PVNH2;; HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE Percent 608098 PERIVENTRICULAR NODULAR HETEROTOPIA 3; PVNH3 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES Number Sign 608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D;; DUCHENNE-LIKE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, TYPE 2; DMDA2;; ADHALINOPATHY, PRIMARY Asterisk 608100 NFU1, S. CEREVISIAE, HOMOLOG OF; NFU1 IRON-SULFUR CLUSTER SCAFFOLD PROTEIN NFU1;; HIRA-INTERACTING PROTEIN 5; HIRIP5 Asterisk 608101 SPERMATID-SPECIFIC LINKER HISTONE H1-LIKE PROTEIN HILS1 Asterisk 608102 CLN5 GENE; CLN5 Asterisk 608103 ALG8, S. CEREVISIAE, HOMOLOG OF; ALG8 DOLICHYL-P-GLUCOSE:Glc-1-Man-9-GlcNAc-2-PP-DOLICHYL-ALPHA-3-GLUCOSYLTRANSFERASE Number Sign 608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H CDG Ih; CDGIh Percent 608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC RE-PED-WC Number Sign 608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5; HIGM5 HYPER-IgM SYNDROME 5 Asterisk 608107 FAMILIAL MEDITERRANEAN FEVER GENE; MEFV PYRIN;; MARENOSTRIN Asterisk 608108 CRANIOFACIAL DEVELOPMENT PROTEIN 1; CFDP1 CRANIOFACIAL PROTEIN, 27-KD; CP27;; BUCENTAUR; BCNT Asterisk 608109 PSEUDOURIDINE SYNTHASE 1; PUS1 Asterisk 608110 p21 PROTEIN-ACTIVATED KINASE 6; PAK6 p21 CDC42/RAC1-ACTIVATED KINASE 6 Asterisk 608111 FANCL GENE; FANCL PHD FINGER PROTEIN 9; PHF9;; FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 43-KD; FAAP43 Asterisk 608112 TRAFFICKING PROTEIN, KINESIN-BINDING 1; TRAK1 OGT-INTERACTING PROTEIN, 106-KD; OIP106;; KIAA1042;; MILTON, DROSOPHILA, HOMOLOG OF Asterisk 608113 SARCOGLYCAN, ZETA; SGCZ ZSG1;; ZETA-SARCOGLYCAN Asterisk 608114 CENTAURIN, ALPHA-1; CENTA1 p42-IP4 Number Sign 608115 OVARIAN HYPERSTIMULATION SYNDROME; OHSS OVARIAN HYPERSTIMULATION SYNDROME, FAMILIAL GESTATIONAL SPONTANEOUS Asterisk 608116 HEDGEHOG ACYLTRANSFERASE-LIKE PROTEIN; HHATL HHAT-LIKE PROTEIN;; MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING 3; MBOAT3;; MEMBRANE-BOUND O-ACETYLTRANSFERASE 3;; CHROMOSOME 3 OPEN READING FRAME 3; C3ORF3;; KIAA1173 Asterisk 608117 PHOSPHODIESTERASE 4D-INTERACTING PROTEIN; PDE4DIP MYOMEGALIN, RAT, HOMOLOG OF;; MYOMEGALIN-LIKE PROTEIN; MMGL;; KIAA0454;; KIAA0477 Number Sign 608118 ZINC DEFICIENCY, TRANSIENT NEONATAL; TNZD ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC ZINC IN BREAST MILK, REDUCED, INCLUDED Asterisk 608119 HOMEODOMAIN LEUCINE ZIPPER-CONTAINING FACTOR HOMEZ;; KIAA1443 Asterisk 608120 PARVIN, ALPHA; PARVA Asterisk 608121 PARVIN, BETA; PARVB Asterisk 608122 PARVIN, GAMMA; PARVG Asterisk 608123 ACYL-CoA THIOESTERASE 8; ACOT8 PEROXISOMAL ACYL-CoA THIOESTERASE 1; PTE1 Asterisk 608124 XYLOSYLTRANSFERASE 1; XYLT1 XT1;; UDP-D-XYLOSE:PROTEOGLYCAN CORE PROTEIN BETA-D-XYLOSYLTRANSFERASE 1 Asterisk 608125 XYLOSYLTRANSFERASE 2; XYLT2 XT2;; UDP-D-XYLOSE:PROTEOGLYCAN CORE PROTEIN BETA-D-XYLOSYLTRANSFERASE 2 Asterisk 608126 ACIDIC NUCLEOPLASMIC DNA-BINDING PROTEIN 1, XENOPUS, HOMOLOG OF AND1 Asterisk 608127 PRE-B-CELL LEUKEMIA TRANSCRIPTION FACTOR 4; PBX4 Caret 608128 MOVED TO 604605 Asterisk 608129 UBIQUITIN-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; UBAC1 UBA DOMAIN-CONTAINING PROTEIN 1;; GLIOBLASTOMA DIFFERENTIATION-RELATED PROTEIN 1; GBDR1;; KIP1 UBIQUITINATION-PROMOTING COMPLEX 2; KPC2 Asterisk 608130 NUAK FAMILY, SNF1-LIKE KINASE, 1; NUAK1 AMPK-RELATED PROTEIN KINASE 5; ARK5;; KIAA0537 Asterisk 608131 NUAK FAMILY, SNF1-LIKE KINASE, 2; NUAK2 SNF1/AMPK-RELATED PROTEIN KINASE; SNARK Asterisk 608132 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 8; TTC8 BBS8 GENE Number Sign 608133 RETINITIS PIGMENTOSA 7; RP7 RETINITIS PIGMENTOSA 7, DIGENIC, INCLUDED;; LEBER CONGENITAL AMAUROSIS 18, INCLUDED; LCA18, INCLUDED Asterisk 608134 PARALEMMIN; PALM KIAA0270 Asterisk 608135 ASPORIN; ASPN PERIODONTAL LIGAMENT-ASSOCIATED PROTEIN 1; PLAP1 Asterisk 608136 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10; ARHGEF10 KIAA0294 Asterisk 608137 NMDA RECEPTOR SYNAPTONUCLEAR SIGNALING AND NEURONAL MIGRATION FACTOR; NSMF NASAL EMBRYONIC LHRH FACTOR; NELF;; NASAL EMBRYONIC LUTEINIZING HORMONE-RELEASING HORMONE FACTOR Asterisk 608138 PROGRAMMED CELL DEATH 7; PDCD7 Asterisk 608139 CENTROMERE PROTEIN V; CENPV NUCLEAR PROTEIN p30 Asterisk 608140 NUCLEOPORIN, 35-KD; NUP35 MITOTIC PHOSPHOPROTEIN 44; MP44;; NUP53, S. CEREVISIAE, HOMOLOG OF; NUP53 Asterisk 608141 NUCLEOPORIN, 43-KD; NUP43 p42 Asterisk 608142 HSC20, E. COLI, HOMOLOG OF HSC20;; HSCB;; JAC1, S. CEREVISIAE, HOMOLOG OF; JAC1 Asterisk 608143 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 6; AGPAT6 LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE-ZETA;; LPAAT-ZETA Asterisk 608144 SAM POINTED DOMAIN-CONTAINING ETS TRANSCRIPTION FACTOR; SPDEF PROSTATE EPITHELIUM-SPECIFIC ETS TRANSCRIPTION FACTOR; PDEF Asterisk 608145 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1; NIPA1 Asterisk 608146 NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 2; NIPA2 Asterisk 608147 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 5; TUBGCP5 TUBG COMPLEX-ASSOCIATED PROTEIN 5;; GAMMA-TUBULIN COMPLEX COMPONENT 5; GCP5;; KIAA1899 Asterisk 608148 SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 2; SATB2 KIAA1034 Number Sign 608149 KAGAMI-OGATA SYNDROME UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 Asterisk 608150 PERIPHILIN 1; PPHLN1 Asterisk 608151 WD REPEAT-CONTAINING PROTEIN 19; WDR19 IFT144 Asterisk 608152 PROSTAGLANDIN E SYNTHASE 2; PTGES2 PGES2;; GATE-BINDING FACTOR 1; GBF1 Asterisk 608153 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14A; PPP1R14A PROTEIN KINASE C-POTENTIATED INHIBITOR OF PROTEIN PHOSPHATASE 1, 17-KD;; PKC-POTENTIATED INHIBITOR OF PP1, 17-KD; CPI17 Percent 608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES Asterisk 608155 SYNAPTOPODIN; SYNPO KIAA1029 Number Sign 608156 NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS CHROMOSOME 8q22.1 DELETION SYNDROME Asterisk 608157 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 2; SLC25A2 ORNITHINE TRANSPORTER, MITOCHONDRIAL, 2; ORNT2 Percent 608158 CoQ-RESPONSIVE OXPHOS DEFICIENCY Asterisk 608159 PROTEASE, SERINE, 21; PRSS21 EOSINOPHIL SERINE PROTEASE 1; ESP1;; TESTISIN Asterisk 608160 SRY-BOX 9; SOX9 SRY-RELATED HMG-BOX GENE 9 XXSR, INCLUDED;; XYSR, INCLUDED;; TESTIS-SPECIFIC ENHANCER OF SOX9, INCLUDED; TES, INCLUDED;; TESTIS-SPECIFIC ENHANCER OF SOX9 CORE, INCLUDED; TESCO, INCLUDED;; REGULATORY ELEMENT, ENHANCER, 13, INCLUDED; ENH13, INCLUDED Number Sign 608161 MACULAR DYSTROPHY, VITELLIFORM, 3; VMD3 VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET; AVMD;; FOVEOMACULAR DYSTROPHY, ADULT-ONSET; AOFMD;; FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION Asterisk 608162 V-SET DOMAIN-CONTAINING T-CELL ACTIVATION INHIBITOR 1; VTCN1 B7 HOMOLOG 4; B7H4;; B7 SUPERFAMILY, MEMBER 1; B7S1;; B7X Asterisk 608163 EXOCYST COMPLEX COMPONENT 7; EXOC7 EXO70, S. CEREVISIAE, HOMOLOG OF; EXO70;; KIAA1067 Asterisk 608164 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY V, MEMBER 1; KCNV1 KV8.1 Asterisk 608165 PTB DOMAIN-CONTAINING ENGULFMENT ADAPTOR PROTEIN 1; GULP1 GULP;; CED6, C. ELEGANS, HOMOLOG OF Asterisk 608166 SEMAPHORIN 3E; SEMA3E SEMAPHORIN H, MOUSE, HOMOLOG OF; SEMAH;; KIAA0331 Asterisk 608167 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 1; KCNT1 KIAA1422;; SLACK Asterisk 608168 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 6; KCNH6 ETHER-A-GO-GO-RELATED GENE 2; ERG2; HERG2;; EAG-RELATED GENE 2;; KV11.2 Asterisk 608169 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 7; KCNH7 ETHER-A-GO-GO-RELATED GENE 3; ERG3; HERG3;; EAG-RELATED GENE 3;; KV11.3 Asterisk 608170 DEAD/H BOX 41; DDX41 ABSTRAKT, DROSOPHILA, HOMOLOG OF; ABS Asterisk 608171 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-2/DELTA SUBUNIT 4; CACNA2D4 Asterisk 608172 DEHYDRODOLICHYL DIPHOSPHATE SYNTHASE; DHDDS DEDOL-PP SYNTHASE;; HDS;; CIS-ISOPRENYLTRANSFERASE; CIT Percent 608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1 AITD1 Percent 608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2 AITD2 Number Sign 608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3 Percent 608176 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4 AITD4 Asterisk 608177 EXOSTOSIN GLYCOSYLTRANSFERASE 1; EXT1 EXOSTOSIN 1;; EXT Asterisk 608178 LEUCINE ZIPPER PROTEIN 2; LUZP2 Asterisk 608179 CAYTAXIN; ATCAY BNIPH;; KIAA1872 Number Sign 608180 SYNPOLYDACTYLY 2; SPD2 SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES Asterisk 608181 ACIDIC CLUSTER PROTEIN, 33-KD; ACP33 MASPARDIN;; SPG21 GENE Asterisk 608182 POTASSIUM CHANNEL-INTERACTING PROTEIN 4 KCNIP4; KCHIP4;; CALSENILIN-LIKE PROTEIN; CALP Asterisk 608183 CHONDROITIN SULFATE SYNTHASE 1; CHSY1 CHONDROITIN SYNTHASE 1; CSS1;; CARBOHYDRATE SYNTHASE 1;; KIAA0990 NULL 608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4 HYPER-IgM SYNDROME 4 Asterisk 608185 EXOCYST COMPLEX COMPONENT 4; EXOC4 SEC8, S. CEREVISIAE, HOMOLOG OF; SEC8;; KIAA1699 Asterisk 608186 EXOCYST COMPLEX COMPONENT 3; EXOC3 SEC6, S. CEREVISIAE, HOMOLOG OF; SEC6 Asterisk 608187 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 8; MCM8 Asterisk 608188 CARDIOLIPIN SYNTHASE 1; CRLS1 GCD10, S. CEREVISIAE, HOMOLOG OF; GCD10;; CHROMOSOME 20 OPEN READING FRAME 155; C20ORF155 Number Sign 608189 TROPICAL CALCIFIC PANCREATITIS TCP Asterisk 608190 N-ACETYLTRANSFERASE 8B; NAT8B CAMELLO, XENOPUS, HOMOLOG OF, 2; CML2 Asterisk 608191 RB-ASSOCIATED KRAB REPRESSOR RBAK Asterisk 608192 SCY1-LIKE PROTEIN 3; SCYL3 SCY1, S. CEREVISIAE, HOMOLOG OF, 3;; PROTEIN ASSOCIATED WITH THE C-TERMINAL DOMAIN OF EZRIN; PACE1 Asterisk 608193 REC8, S. POMBE, HOMOLOG OF; REC8L1 REC8 Number Sign 608194 CONE-ROD DYSTROPHY 13; CORD13 Asterisk 608195 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 1; LRRC1 LAP AND NO PDZ PROTEIN; LANO Asterisk 608196 WERNER HELICASE-INTERACTING PROTEIN 1; WRNIP1 WHIP Asterisk 608197 PEPTIDOGLYCAN RECOGNITION PROTEIN 3; PGLYRP3 PEPTIDOGLYCAN RECOGNITION PROTEIN, INTERMEDIATE, ALPHA;; PGRPI-ALPHA; PGRPIA Asterisk 608198 PEPTIDOGLYCAN RECOGNITION PROTEIN 4; PGLYRP4 PEPTIDOGLYCAN RECOGNITION PROTEIN, INTERMEDIATE, BETA;; PGRPI-BETA; PGRPIB Asterisk 608199 PEPTIDOGLYCAN RECOGNITION PROTEIN 2; PGLYRP2 PEPTIDOGLYCAN RECOGNITION PROTEIN, LONG; PGRPL Asterisk 608200 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1; CDK5RAP1 Asterisk 608201 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2; CDK5RAP2 CENTROSOMAL PROTEIN, 215-KD; CEP215;; KIAA1633 Asterisk 608202 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 3; CDK5RAP3 LXXLL/LEUCINE ZIPPER-CONTAINING ARF-BINDING PROTEIN; LZAP;; C53 Number Sign 608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME Asterisk 608204 UNC93, C. ELEGANS, HOMOLOG OF, B1; UNC93B1 Asterisk 608205 MITOCHONDRIAL TRANS-2-ENOYL-CoA REDUCTASE; MECR TRANS-2-ENOYL-CoA REDUCTASE, MITOCHONDRIAL;; 2-ENOYL THIOESTER REDUCTASE;; NUCLEAR RECEPTOR-BINDING FACTOR 1; NRBF1 Asterisk 608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2 KIAA1985 Percent 608207 KALA-AZAR, SUSCEPTIBILITY TO, 1; KAZA1 LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 1 Asterisk 608208 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 4; MARCHF4 MARCH IV; MARCH4;; KIAA1399 Asterisk 608209 DIPEPTIDYL PEPTIDASE X; DPP10 DIPEPTIDYL PEPTIDASE IV-RELATED PROTEIN 3; DPRP3;; KIAA1492 Asterisk 608210 EXOSTOSIN GLYCOSYLTRANSFERASE 2; EXT2 EXOSTOSIN 2 Asterisk 608211 KIDNEY-ASSOCIATED ANTIGEN 1; KAAG1 RU2, ANTISENSE; RU2AS Asterisk 608212 IMMUNITY-RELATED GTPase FAMILY, M; IRGM LRG47, MOUSE, HOMOLOG OF; LRG47;; INTERFERON-INDUCIBLE PROTEIN 1, MOUSE, HOMOLOG OF; IFI1;; IRGM1 Asterisk 608213 CELL CYCLE EXIT AND NEURONAL DIFFERENTIATION 1; CEND1 BM88 ANTIGEN; BM88 Asterisk 608214 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT; SCN3B SODIUM CHANNEL, BETA-3 SUBUNIT; SCNB3 Asterisk 608215 LIM HOMEOBOX GENE 6; LHX6 LHX6.1 Asterisk 608216 COMM DOMAIN-CONTAINING PROTEIN 5; COMMD5 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 5;; HYPERTENSION-RELATED CALCIUM-REGULATED GENE; HCARG Percent 608217 SEIZURES, BENIGN FAMILIAL NEONATAL, 3; BFNS3 CONVULSIONS, BENIGN FAMILIAL NEONATAL, 3; BFNC3 Asterisk 608218 KERATIN 20, TYPE I; KRT20 K20;; KA20;; CYTOKERATIN 20; CK20;; KERATIN 21, RAT, HOMOLOG OF; KRT21 Percent 608219 DEAFNESS, AUTOSOMAL RECESSIVE 38; DFNB38 Percent 608220 SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE; SPG25 DISC HERNIATION WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE Asterisk 608221 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE; MASTL FLJ14813;; GREATWALL; GWL Asterisk 608222 ADENYLOSUCCINATE LYASE; ADSL ADENYLOSUCCINASE NULL 608223 ASPIRIN RESISTANCE ASPIRIN, RESISTANCE TO ANTITHROMBOTIC EFFECT OF;; ASPIRIN, RESISTANCE TO CARDIOPROTECTIVE EFFECT OF Number Sign 608224 DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41 Asterisk 608225 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 14; GALNT14 GalNAc TRANSFERASE 14; GalNAcT14 Asterisk 608226 NANOS, DROSOPHILA, HOMOLOG OF, 1; NANOS1 NOS1 NULL 608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION Asterisk 608228 NANOS, DROSOPHILA, HOMOLOG OF, 2; NANOS2 NOS2 Asterisk 608229 NANOS, DROSOPHILA, HOMOLOG OF, 3; NANOS3 NOS3 Asterisk 608230 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, T TYPE, ALPHA-1I SUBUNIT; CACNA1I KIAA1120 Asterisk 608231 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 8; RASSF8 CHROMOSOME 12 OPEN READING FRAME 2; C12ORF2 Number Sign 608232 LEUKEMIA, CHRONIC MYELOID; CML LEUKEMIA, CHRONIC MYELOGENOUS LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATANIB, INCLUDED;; LEUKEMIA, CHRONIC MYELOID, ATYPICAL, INCLUDED; ACML, INCLUDED Number Sign 608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2 Asterisk 608234 GALACTOSE-3-O-SULFOTRANSFERASE 3; GAL3ST3 GAL3ST2 Asterisk 608235 GALACTOSE-3-O-SULFOTRANSFERASE 4; GAL3ST4 Number Sign 608236 SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT; SNCV Asterisk 608237 GALACTOSE-3-O-SULFOTRANSFERASE 2; GAL3ST2 GLYCOPROTEIN BETA-GALACTOSE 3-PRIME-SULFOTRANSFERASE; GP3ST Asterisk 608238 SIGNAL PEPTIDE PEPTIDASE-LIKE 2A; SPPL2A SPP-LIKE 2A;; INTRAMEMBRANE PROTEASE 3; IMP3 Asterisk 608239 SIGNAL PEPTIDE PEPTIDASE-LIKE 2B SPP-LIKE 2B; SPPL2B;; INTRAMEMBRANE PROTEASE 4; IMP4;; KIAA1532 Asterisk 608240 SIGNAL PEPTIDE PEPTIDASE-LIKE 3 SPP-LIKE 3; SPPL3;; INTRAMEMBRANE PROTEASE 2; IMP2 Asterisk 608241 SMAD NUCLEAR INTERACTING PROTEIN 1; SNIP1 Asterisk 608242 HECT DOMAIN AND RCC1-LIKE DOMAIN 5; HERC5 CYCLIN E-BINDING PROTEIN 1; CEB1 Asterisk 608243 NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG; NSMCE3 NSE3;; NECDIN-LIKE GENE 2; NDNL2;; MELANOMA ANTIGEN, FAMILY G, 1; MAGEG1 Percent 608244 OTOSCLEROSIS 3; OTSC3 Asterisk 608245 KERATIN 71, TYPE II; KRT71 K71;; KB34;; KERATIN 6, INNER ROOT SHEATH, 1; KRT6IRS1;; K6IRS1 Asterisk 608246 KERATIN 72, TYPE II; KRT72 K72;; KB35;; KERATIN 6, INNER ROOT SHEATH, 2; KRT6IRS2;; K6IRS2 Asterisk 608247 KERATIN 73, TYPE II; KRT73 K73;; KB36;; KERATIN 6, INNER ROOT SHEATH, 3; KRT6IRS3;; K6IRS3 Asterisk 608248 KERATIN 74, TYPE II; KRT74 K74;; KB37;; KERATIN 6, INNER ROOT SHEATH, 4; KRT6IRS4;; K6IRS4 Asterisk 608249 CYCLIN B1 INTERACTING PROTEIN 1; CCNB1IP1 HUMAN ENHANCER OF INVASION 10; HEI10;; CHROMOSOME 14 OPEN READING FRAME 18; C14ORF18 HEI10/HMGIC FUSION GENE, INCLUDED Asterisk 608250 SDS3, YEAST, HOMOLOG OF SDS3;; SIN3A-ASSOCIATED PROTEIN, 45-KD; SAP45 Percent 608251 PHOBIA, SPECIFIC PHOBIA, SIMPLE Asterisk 608252 ACTIN FILAMENT-ASSOCIATED PROTEIN 1; AFAP1 AFAP;; AFAP, 110-KD; AFAP110 Asterisk 608253 TESTIS-SPECIFIC KINASE SUBSTRATE TSKS Asterisk 608254 PAX TRANSCRIPTION ACTIVATION DOMAIN-INTERACTING PROTEIN 1; PAXIP1 PAXIP1L;; PAX TRANSACTIVATION DOMAIN-INTERACTING PROTEIN; PTIP Asterisk 608255 TRAF3-INTERACTING PROTEIN 3; TRAF3IP3 TRAF3-INTERACTING JNK-ACTIVATING MODULATOR; T3JAM Asterisk 608256 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, BETA SUBUNIT; SCN4B NULL 608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT Asterisk 608258 DIPEPTIDYL PEPTIDASE IX; DPP9 DIPEPTIDYL PEPTIDASE IV-RELATED PROTEIN 2; DPRP2 Asterisk 608259 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 3; IGF2BP3 IGF2 mRNA-BINDING PROTEIN 3; IMP3;; KH DOMAIN CONTAINING PROTEIN OVEREXPRESSED IN CANCER; KOC1;; VICKZ3 Asterisk 608260 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 8; KCNH8 ETHER-A-GO-GO-LIKE POTASSIUM CHANNEL 1; ELK1;; EAG-LIKE POTASSIUM CHANNEL 1 Asterisk 608261 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 2; SENP2 SUMO-SPECIFIC PROTEASE 2;; SMT3-SPECIFIC ISOPEPTIDASE 2, MOUSE, HOMOLOG OF; SMT3IP2;; AXAM2, RAT, HOMOLOG OF; AXAM2;; KIAA1331 Asterisk 608262 DISRUPTED IN RENAL CARCINOMA 3; DIRC3 DIRC3/HSPBAP1 FUSION GENE, INCLUDED Asterisk 608263 HEAT-SHOCK 27-KD PROTEIN-ASSOCIATED PROTEIN 1; HSPBAP1 HSPB-ASSOCIATED PROTEIN 1;; PASS1, RAT, HOMOLOG OF; PASS1 HSPBAP1/DIRC3 FUSION GENE, INCLUDED Percent 608264 DEAFNESS, AUTOSOMAL RECESSIVE 40; DFNB40 Number Sign 608265 DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39 Number Sign 608266 PARATHYROID CARCINOMA PRTC Asterisk 608267 RAS-RELATED GTP-BINDING PROTEIN C; RRAGC RAGC Asterisk 608268 RAS-RELATED GTP-BINDING PROTEIN D; RRAGD RAGD Asterisk 608269 SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 3; SLC28A3 CONCENTRATIVE NUCLEOSIDE TRANSPORTER 3; CNT3 Asterisk 608270 THREONINE ASPARTASE 1; TASP1 TASPASE 1;; CHROMOSOME 20 OPEN READING FRAME 13; C20ORF13 Asterisk 608271 MICROTUBULE-ACTIN CROSS-LINKING FACTOR 1; MACF1 MACROPHIN 1;; TRABECULIN-ALPHA;; ACTIN CROSS-LINKING FACTOR 7; ACF7;; KIAA1251 Asterisk 608272 NEURAMINIDASE 1; NEU1 SIALIDASE 1; SIAL1;; SIALIDASE, LYSOSOMAL Asterisk 608273 INTERLEUKIN 27; IL27 INTERLEUKIN 27, 28-KD SUBUNIT;; IL27p28;; INTERLEUKIN 30; IL30 Asterisk 608274 PROTEIN ARGININE N-METHYLTRANSFERASE 6; PRMT6 Asterisk 608275 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 15; SLC22A15 FLY-LIKE PUTATIVE TRANSPORTER 1; FLIPT1 Asterisk 608276 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 16; SLC22A16 FLY-LIKE PUTATIVE TRANSPORTER 2; FLIPT2;; CARNITINE TRANSPORTER 2; CT2 Asterisk 608277 CARBOHYDRATE SULFOTRANSFERASE 15; CHST15 B-CELL RAG-ASSOCIATED GENE; BRAG;; N-ACETYLGALACTOSAMINE 4-SULFATE 6-O-SULFOTRANSFERASE;; GalNAc4S-6ST;; KIAA0598 NULL 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY NULL 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS Asterisk 608280 GROWTH ARREST-SPECIFIC 5; GAS5 NULL 608281 SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES ANOMALOUS PULMONARY VENOUS RETURN, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES Asterisk 608282 TRACE AMINE-ASSOCIATED RECEPTOR 9; TAAR9 TRACE AMINE RECEPTOR 3; TRAR3;; TAR3; TA3 Asterisk 608283 KINESIN FAMILY MEMBER 21A; KIF21A KIAA1708 Asterisk 608284 INTRAMEMBRANE PROTEASE 5 IMP5 Asterisk 608285 NAD SYNTHETASE 1; NADSYN1 Asterisk 608286 PROTOCADHERIN 10; PCDH10 KIAA1400 Asterisk 608287 PROTOCADHERIN 18; PCDH18 KIAA1562 Asterisk 608288 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 1; IGF2BP1 IGF2 mRNA-BINDING PROTEIN 1; IMP1;; CODING REGION DETERMINANT-BINDING PROTEIN, MOUSE, HOMOLOG OF; CRDBP;; ZIPCODE-BINDING PROTEIN 1; ZBP1 Asterisk 608289 INSULIN-LIKE GROWTH FACTOR 2 mRNA-BINDING PROTEIN 2; IGF2BP2 IGF2 mRNA-BINDING PROTEIN 2; IMP2 Percent 608290 LELIS SYNDROME ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH ACANTHOSIS NIGRICANS Asterisk 608291 TUBULIN-TYROSINE LIGASE; TTL Asterisk 608292 STOMATIN-LIKE PROTEIN 2; STOML2 SLP2;; PARAPROTEIN TARGET 7; PARATARG7;; PARATARG 7 Asterisk 608293 RHO GTPase-ACTIVATING PROTEIN 17; ARHGAP17 RHOGAP INTERACTING WITH CIP4 HOMOLOGS 1; RICH1;; NADRIN, RAT, HOMOLOG OF Asterisk 608294 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 6; NME6 NONMETASTATIC CELLS 6, PROTEIN EXPRESSED IN;; NM23H6 Asterisk 608295 FAMILY WITH SEQUENCE SIMILARITY 107, MEMBER A; FAM107A DOWNREGULATED IN RENAL CELL CARCINOMA 1; DRR1;; TU3A PROTEIN; TU3A Asterisk 608296 FIBROBLAST GROWTH FACTOR, ACIDIC, INTRACELLULAR BINDING PROTEIN; FIBP Caret 608297 REMOVED FROM DATABASE Asterisk 608298 URB, MOUSE, HOMOLOG OF URB;; STEROID-SENSITIVE GENE 1, RAT, HOMOLOG OF; SSG1 Asterisk 608299 RING FINGER PROTEIN 34; RNF34 RING FINGER HOMOLOGOUS TO IAP TYPE; RFI Asterisk 608300 N-ACETYLGLUTAMATE SYNTHASE; NAGS Asterisk 608301 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 2; LGI2 KIAA1916 Asterisk 608302 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 3; LGI3 Asterisk 608303 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 4; LGI4 Asterisk 608304 CANCER/TESTIS ANTIGEN 3; CTAG3 CANCER-ASSOCIATED GENE 1; CAGE1 Asterisk 608305 SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5 SODIUM-COUPLED CITRATE TRANSPORTER; NACT Asterisk 608306 TRANSCRIPTION FACTOR Sp8; SP8 BUTTONHEAD, DROSOPHILA, HOMOLOG OF; BTD Asterisk 608307 CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1 Asterisk 608308 ANKYRIN REPEAT AND BTB/POZ DOMAIN CONTAINING 1; ABTB1 BPOZ Asterisk 608309 PTEN-INDUCED PUTATIVE KINASE 1; PINK1 Asterisk 608310 ARGININOSUCCINATE LYASE; ASL ARGININOSUCCINASE Asterisk 608311 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE-LIKE 1B; GRINL1B Asterisk 608312 TWIST NEIGHBOR; TWISTNB Asterisk 608313 ARGINASE 1; ARG1 ARGINASE, LIVER Asterisk 608314 SEPTIN 3; SEPT3 SEP3 Asterisk 608315 ELL-ASSOCIATED FACTOR 1; EAF1 Percent 608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2 CHDS2 Asterisk 608317 GRAINYHEAD-LIKE 3; GRHL3 GRAINYHEAD, DROSOPHILA, HOMOLOG OF, 3;; SISTER OF MAMMALIAN GRAINYHEAD;; SISTER OF MGR; SOM;; TRANSCRIPTION FACTOR CP2-LIKE 4; TFCP2L4;; CURLY TAIL, MOUSE, HOMOLOG OF Percent 608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4 CHDS4 Caret 608319 MOVED TO 605097 Number Sign 608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 CORONARY ARTERY DISEASE WITH MYOCARDIAL INFARCTION Asterisk 608321 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 2; TICAM2 TOLL/INTERLEUKIN-1 RECEPTOR DOMAIN-CONTAINING PROTEIN; TIRP;; TRIF-RELATED ADAPTOR MOLECULE; TRAM Asterisk 608322 KINESIN FAMILY MEMBER 21B; KIF21B KIAA0449 Number Sign 608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C; CMTDIC CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C;; DI-CMTC Asterisk 608324 SMALL INTEGRAL MEMBRANE PROTEIN 3; SMIM3 NGF-INDUCED DIFFERENTIATION CLONE 67; NID67 Asterisk 608325 PHD FINGER PROTEIN 21A; PHF21A BRAF35/HDAC COMPLEX, 80-KD SUBUNIT; BHC80;; KIAA1696 Asterisk 608326 STOMATIN-LIKE PROTEIN 1; STOML1 SLP1;; STOMATIN-RELATED PROTEIN; STORP Asterisk 608327 STOMATIN-LIKE PROTEIN 3; STOML3 STOMATIN-RELATED OLFACTORY PROTEIN; SRO Number Sign 608328 WEILL-MARCHESANI SYNDROME 2; WMS2 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT;; SPHEROPHAKIA-BRACHYMORPHIA SYNDROME;; MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL;; GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS Asterisk 608329 MYELIN REGULATORY FACTOR; MYRF MRF;; CHROMOSOME 11 OPEN READING FRAME 9; C11ORF9;; KIAA0954 Asterisk 608330 PRECURSOR mRNA-PROCESSING FACTOR 19, S. CEREVISIAE, HOMOLOG OF; PRPF19 PRP19;; PSO4, S. CEREVISIAE, HOMOLOG OF; PSO4;; NUCLEAR MATRIX PROTEIN 200; NMP200 Asterisk 608331 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 2; SLC36A2 PROTON/AMINO ACID TRANSPORTER 2; PAT2;; TRAMDORIN 1 Asterisk 608332 SOLUTE CARRIER FAMILY 36 (PROTON/AMINO ACID SYMPORTER), MEMBER 3; SLC36A3 PROTON/AMINO ACID TRANSPORTER 3; PAT3 Asterisk 608333 DOCKING PROTEIN 4; DOK4 DOWNSTREAM OF TYROSINE KINASE 4 Asterisk 608334 DOCKING PROTEIN 5; DOK5 DOWNSTREAM OF TYROSINE KINASE 5 Asterisk 608335 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY O, MEMBER 1; PLEKHO1 CK2-INTERACTING PROTEIN 1; CKIP1;; CASEIN KINASE II-INTERACTING PROTEIN 1 Asterisk 608336 TRANSMEMBRANE DOMAIN PROTEIN REGULATED IN ADIPOCYTES, 40-KD TPRA40 Asterisk 608337 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1; OTUB1 OTU DOMAIN-CONTAINING UBAL-BINDING PROTEIN 1;; OTUBAIN 1; OTU1; OTB1 Asterisk 608338 OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 2; OTUB2 OTU DOMAIN-CONTAINING UBAL-BINDING PROTEIN 2;; OTUBAIN 2; OTU2; OTB2;; CHROMOSOME 14 OPEN READING FRAME 137; C14ORF137 Asterisk 608339 SYNTAXIN-BINDING PROTEIN 3; STXBP3 UNC18, C. ELEGANS, HOMOLOG OF, 3;; MUNC18-3;; MUNC18C;; PLATELET SEC1 PROTEIN; PSP Number Sign 608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; CMTRIA CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A;; RI-CMTA Asterisk 608341 CYTOCHROME b5 REDUCTASE 1; CYB5R1 B5R.1;; NAD(P)H:QUINONE OXIDOREDUCTASE TYPE 3, POLYPEPTIDE A2; NQO3A2 Asterisk 608342 CYTOCHROME b5 REDUCTASE 2; CYB5R2 B5R.2 Asterisk 608343 CYTOCHROME b5 REDUCTASE 4; CYB5R4 NADPH CYTOCHROME b5 OXIDOREDUCTASE; NCB5OR Asterisk 608344 HEAT-SHOCK 27-KD PROTEIN 9 HSPB9 Percent 608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3 Caret 608346 MOVED TO 236670 Asterisk 608347 DICARBONYL/L-XYLULOSE REDUCTASE; DCXR CARBONYL REDUCTASE 2;; DICARBONYL REDUCTASE;; DIACETYL REDUCTASE;; L-XYLULOSE REDUCTASE;; P34H Asterisk 608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA BCKD, E1-ALPHA SUBUNIT; BCKDE1A Asterisk 608349 HEMATOPOIETIC SH2 DOMAIN-CONTAINING PROTEIN; HSH2D HSH2;; ALX Asterisk 608350 ENDOMUCIN; EMCN ENDOMUCIN 2; EMCN2 Asterisk 608351 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 11; IGSF11 BRAIN- AND TESTIS-SPECIFIC IMMUNOGLOBULIN SUPERFAMILY PROTEIN; BTIGSF;; V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 3; VSIG3 Asterisk 608352 ACROSIN-BINDING PROTEIN; ACRBP PROACROSIN-BINDING PROTEIN SP32 PRECURSOR; SP32;; OY-TES-1 Asterisk 608353 ANTIZYME INHIBITOR 2; AZIN2 ORNITHINE DECARBOXYLASE-LIKE PROTEIN;; ODC-LIKE PROTEIN; ODC1L;; KIAA1945 Number Sign 608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM Caret 608355 MOVED TO 608354 Asterisk 608356 OUTER DENSE FIBER OF SPERM TAILS 3; ODF3 SHIPPO1 Asterisk 608357 SULFOTRANSFERASE FAMILY 1C, MEMBER 4; SULT1C4 SULFOTRANSFERASE FAMILY 1C, MEMBER 2, FORMERLY; SULT1C2, FORMERLY Number Sign 608358 MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT;; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS Asterisk 608359 SULFOTRANSFERASE FAMILY 4A, MEMBER 1; SULT4A1 BRAIN SULFOTRANSFERASE-LIKE PROTEIN 1; BRSTL1 Asterisk 608360 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8A; LRRC8A LRRC8;; SWELL1;; KIAA1437 Number Sign 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; SEDK Asterisk 608362 STATHMIN-LIKE 3; STMN3 SCG10-LIKE PROTEIN; SCLIP Number Sign 608363 CHROMOSOME 22q11.2 DUPLICATION SYNDROME CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME Asterisk 608364 LIM DOMAIN AND ACTIN-BINDING PROTEIN 1; LIMA1 EPITHELIAL PROTEIN LOST IN NEOPLASM; EPLIN;; STEROL REGULATORY ELEMENT-BINDING PROTEIN 3; SREBP3 Asterisk 608365 T-COMPLEX PROTEIN 10-LIKE; TCP10L Asterisk 608366 KIAA1199 GENE; KIAA1199 Percent 608367 MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 MYOPIA 4, FORMERLY; MYP4, FORMERLY Asterisk 608368 RAD9, S. POMBE, HOMOLOG OF, B; RAD9B Asterisk 608369 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 13; GALNT13 GalNAc TRANSFERASE 13; GalNAcT13;; KIAA1918 Asterisk 608370 STEAROYL-CoA DESATURASE 5; SCD5 ACYL-CoA DESATURASE 4; ACOD4 Percent 608371 OROFACIAL CLEFT 4; OFC4 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 4 Percent 608372 DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49 Asterisk 608373 SYNAPTOGYRIN 4; SYNGR4 Asterisk 608374 HEMOJUVELIN; HJV HFE2 Asterisk 608375 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 6; DNAJC6 DJC6;; AUXILIN, BOVINE, HOMOLOG OF;; KIAA0473 Asterisk 608376 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 12; DNAJB12 DJ10;; FLJ20027 Asterisk 608377 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; ARFGAP1 Asterisk 608378 NUCLEAR EXPORT MEDIATOR FACTOR; NEMF SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 1; SDCCAG1;; NY-CO-1 Asterisk 608379 CHEMOKINE, CC MOTIF, RECEPTOR-LIKE PROTEIN 2; CCRL2 HCR;; CRAM;; ATYPICAL CHEMOKINE RECEPTOR 5; ACKR5 Number Sign 608380 RETINITIS PIGMENTOSA 26; RP26 Asterisk 608381 CERAMIDE KINASE-LIKE; CERKL Asterisk 608382 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 3; DNAJA3 TID56, DROSOPHILA, HOMOLOG OF, 1; TID1 Asterisk 608383 DIHYDROPYRIMIDINASE-LIKE 5; DPYSL5 COLLAPSIN RESPONSE MEDIATOR PROTEIN 5; CRMP5;; CRMP3-ASSOCIATED MOLECULE; CRAM;; ULIP6 Asterisk 608384 GASDERMIN C; GSDMC MELANOMA-DERIVED LEUCINE ZIPPER-CONTAINING EXTRANUCLEAR FACTOR; MLZE Asterisk 608385 TENSIN 4; TNS4 C-TERMINAL TENSIN-LIKE PROTEIN; CTEN Asterisk 608386 TUBEROINFUNDIBULAR PEPTIDE OF 39 AMINO ACIDS TIP39 Asterisk 608387 ZINC FINGER PROTEIN 213; ZNF213 CR53 Asterisk 608388 EVOLUTIONARILY-CONSERVED SIGNALING INTERMEDIATE IN TOLL PATHWAY; ECSIT SITPEC Number Sign 608389 BRANCHIOOTIC SYNDROME 3; BOS3 BO SYNDROME 3 Number Sign 608390 MYOTONIA, POTASSIUM-AGGRAVATED MYOTONIA FLUCTUANS;; MYOTONIA PERMANENS;; SODIUM CHANNEL MUSCLE DISEASE;; MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE;; MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC, INCLUDED; SNEL, INCLUDED Percent 608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 3; VAMAS3;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED Percent 608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 4; VAMAS4;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED Number Sign 608393 MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6 Percent 608394 DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43 Caret 608395 MOVED TO 610217 Asterisk 608396 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 9; SLC9A9 SODIUM/HYDROGEN EXCHANGER 9; NHE9 Asterisk 608397 CUB AND SUSHI MULTIPLE DOMAINS 1; CSMD1 KIAA1890 Asterisk 608398 CUB AND SUSHI MULTIPLE DOMAINS 2; CSMD2 KIAA1884 Asterisk 608399 CUB AND SUSHI MULTIPLE DOMAINS 3; CSMD3 KIAA1894 Asterisk 608400 USH2A GENE; USH2A USHERIN;; USH2; US2 Asterisk 608401 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 4E; MS4A4E Asterisk 608402 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 6E; MS4A6E Asterisk 608403 MEMBRANE-SPANNING 4-DOMAINS, SUBFAMILY A, MEMBER 10; MS4A10 Number Sign 608404 PLATELET GLYCOPROTEIN IV DEFICIENCY BLEEDING DISORDER, PLATELET-TYPE, 10; BDPLT10;; CD36 DEFICIENCY Asterisk 608405 1-AMINOCYCLOPROPANE-1-CARBOXYLATE SYNTHASE; ACCS ACC SYNTHASE; ACS;; PHACS NULL 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY Asterisk 608407 DIHYDROPYRIMIDINASE-LIKE 4; DPYSL4 COLLAPSIN RESPONSE MEDIATOR PROTEIN 3; CRMP3;; UNC33-LIKE PHOSPHOPROTEIN 4; ULIP4 Asterisk 608408 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 3; DPPA3 STELLA, MOUSE, HOMOLOG OF;; PRIMORDIAL GERM CELL PROTEIN 7; PGC7 Asterisk 608409 NORMAL MUCOSA OF ESOPHAGUS-SPECIFIC GENE 1 NMES1 Percent 608410 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7; BMIQ7 OBESITY, SUSCEPTIBILITY TO Asterisk 608411 EXPORTIN 6; XPO6 EXP6;; KIAA0370 Asterisk 608412 GC-RICH PROMOTER-BINDING PROTEIN 1; GPBP1 GPBP;; VASCULAR WALL-LINKED PROTEIN;; VASCULIN Asterisk 608413 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 5; UBR5 E3 UBIQUITIN PROTEIN LIGASE, HECT DOMAIN-CONTAINING, 1; EDD1; EDD;; PROGESTIN-INDUCED PROTEIN;; HYPERPLASTIC DISCS, DROSOPHILA, HOMOLOG OF; HYD;; KIAA0896 Asterisk 608414 PHOSPHOLIPASE C, EPSILON-1; PLCE1 PLCE;; KIAA1516 Number Sign 608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS BRADYOPSIA Asterisk 608416 MATRIX METALLOPROTEINASE 21; MMP21 Asterisk 608417 MATRIX METALLOPROTEINASE 28; MMP28 EPILYSIN Asterisk 608418 SEPTIN 8; SEPT8 KIAA0202 Asterisk 608419 METHYLMALONYL-CoA EPIMERASE; MCEE METHYLMALONYL-CoA RACEMASE Asterisk 608420 PANNEXIN 1; PANX1 PX1 Asterisk 608421 PANNEXIN 2; PANX2 PX2 Asterisk 608422 PANNEXIN 3; PANX3 PX3 Number Sign 608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F Asterisk 608424 MUCIN 17; MUC17 Asterisk 608425 FRUCTOSAMINE 3-KINASE FN3K Asterisk 608426 MAKORIN 2; MKRN2 Asterisk 608427 PARKIN COREGULATED GENE; PACRG Asterisk 608428 CYTOCHROME P450, SUBFAMILY XXVIC, POLYPEPTIDE 1; CYP26C1 Asterisk 608429 CARBOHYDRATE SULFOTRANSFERASE 14; CHST14 DERMATAN-4-SULFOTRANSFERASE 1; D4ST1;; N-ACETYLGALACTOSAMINE 4-0 SULFOTRANSFERASE Asterisk 608430 TRPC4-ASSOCIATED PROTEIN; TRPC4AP TRANSIENT RECEPTOR POTENTIAL CHANNEL 4-ASSOCIATED PROTEIN;; TUMOR NECROSIS FACTOR RECEPTOR 1-ASSOCIATED UBIQUITOUS SCAFFOLDING AND SIGNALING PROTEIN;; TNFR1-ASSOCIATED UBIQUITOUS SCAFFOLDING AND SIGNALING PROTEIN; TRUSS Asterisk 608431 GTPase-ACTIVATING PROTEIN SH3 DOMAIN-BINDING PROTEIN 1; G3BP1 RAS-GTPase-ACTIVATING PROTEIN SH3 DOMAIN-BINDING PROTEIN;; GAP SH3 DOMAIN-BINDING PROTEIN; G3BP;; HUMAN DNA HELICASE VIII;; HDH-VIII NULL 608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM Asterisk 608433 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 18; ZBTB18 ZINC FINGER PROTEIN 238; ZNF238;; REPRESSOR PROTEIN, 58-KD; RP58;; C2H2-171 Asterisk 608434 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 1; GIT1 GRK-INTERACTING PROTEIN 1 Asterisk 608435 MUSCLE RAS VIRAL ONCOGENE HOMOLOG; MRAS RELATED RAS VIRAL ONCOGENE HOMOLOG 3; RRAS3 Asterisk 608436 SULFOTRANSFERASE FAMILY 1B, MEMBER 1; SULT1B1 SULFOTRANSFERASE 1B2; ST1B2 Percent 608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4; SLEB4 Asterisk 608438 TOUSLED-LIKE KINASE 1; TLK1 KIAA0137;; PROTEIN KINASE, UBIQUITOUS-BETA; PKU-BETA Asterisk 608439 TOUSLED-LIKE KINASE 2; TLK2 PROTEIN KINASE, UBIQUITOUS-ALPHA; PKU-ALPHA Asterisk 608440 LACTAMASE, BETA; LACTB MITOCHONDRIAL RIBOSOMAL PROTEIN L56; MRPL56 Asterisk 608441 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 1; SYNE1 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1;; NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 1;; NESPRIN 1;; KIAA0796;; KIAA1756;; KIAA1262 CPG2 ISOFORM, INCLUDED; CPG2, INCLUDED;; CPG2B ISOFORM, INCLUDED; CPG2B, INCLUDED Asterisk 608442 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 2; SYNE2 SYNAPTIC NUCLEAR ENVELOPE PROTEIN 2;; NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 2;; NESPRIN 2;; NUCLEUS AND ACTIN CONNECTING ELEMENT; NUANCE;; KIAA1011 Number Sign 608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3 Asterisk 608444 LYSINE-SPECIFIC METHYLTRANSFERASE 2E; KMT2E MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 5; MLL5 Percent 608445 SPEECH-SOUND DISORDER SSD Number Sign 608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1, INCLUDED; MCI1, INCLUDED;; MYOCARDIAL INFARCTION, PROTECTION AGAINST, INCLUDED Percent 608447 CAROTID INTIMAL MEDIAL THICKNESS 2 CIMT2;; CAROTID INTIMAL MEDIAL THICKNESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 12 Percent 608448 INFLAMMATORY BOWEL DISEASE 9; IBD9 Asterisk 608449 POLYPYRIMIDINE TRACT-BINDING PROTEIN 2; PTBP2 NEURONAL POLYPYRIMIDINE TRACT-BINDING PROTEIN; NPTB Asterisk 608450 B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA-EXPRESSED GENE; BLACE Asterisk 608451 ETHE1 GENE; ETHE1 HEPATOMA SUBTRACTED CLONE ONE; HSCO;; D83198 Asterisk 608452 PLATELET-DERIVED GROWTH FACTOR C; PDGFC FALLOTEIN Asterisk 608453 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE C; CBLC CBL3 Caret 608454 MOVED TO 267750 Asterisk 608455 GLYCOGEN PHOSPHORYLASE, MUSCLE; PYGM MYOPHOSPHORYLASE Number Sign 608456 FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE;; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE Asterisk 608457 CHROMOBOX HOMOLOG 7; CBX7 Asterisk 608458 NEUROCHONDRIN; NCDN NORBIN;; KIAA0607 Asterisk 608459 CYCLIN-DEPENDENT KINASE-LIKE 3; CDKL3 NKIAMRE Asterisk 608460 ZINC FINGER PROTEIN 276; ZFP276 Asterisk 608461 COLLAGEN, TYPE XXVII, ALPHA-1; COL27A1 KIAA1870 Percent 608462 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8; HSCR8 Asterisk 608463 APOPTOSIS-ANTAGONIZING TRANSCRIPTION FACTOR; AATF CHE1 Asterisk 608464 ANGIOGENIC FACTOR WITH G-PATCH AND FHA DOMAINS 1; AGGF1 VG5Q GENE;; FLJ10283 Asterisk 608465 SENATAXIN; SETX Asterisk 608466 ACTIVATOR OF HEAT-SHOCK 90-KD PROTEIN ATPase 1; AHSA1 AHA1 Asterisk 608467 STONIN 2; STON2 STN2;; STONED B, DROSOPHILA, HOMOLOG OF; STNB Asterisk 608468 CARBON CATABOLITE REPRESSION 4-LIKE; CCRN4L CCR4L;; CCR4, S. CEREVISIAE, HOMOLOG OF; CCR4;; NOCTURNIN, XENOPUS, HOMOLOG OF; NOC Asterisk 608469 DEAD/H BOX 17; DDX17 RNA HELICASE, 70-KD; RH70;; p72 Number Sign 608470 CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; CDRB REIS-BUCKLERS CORNEAL DYSTROPHY; RBCD;; CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1;; CORNEAL DYSTROPHY, GEOGRAPHIC;; GRANULAR CORNEAL DYSTROPHY, TYPE III Number Sign 608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A LATTICE CORNEAL DYSTROPHY, TYPE IIIA Asterisk 608472 ST6 BETA-GALACTOSAMIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GAL2 ST6GALII;; KIAA1877 Asterisk 608473 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 1; ANAPC1 APC1 Percent 608474 MYOPIA 5, AUTOSOMAL DOMINANT; MYP5 Asterisk 608475 3-HYDROXYISOBUTYRATE DEHYDROGENASE; HIBADH Asterisk 608476 TBK1-BINDING PROTEIN 1; TBKBP1 PROSAPIP2;; KIAA0775 Asterisk 608477 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A3; AKR7A3 AFLATOXIN B1-ALDEHYDE REDUCTASE 2; AFAR2 Asterisk 608478 ALDO-KETO REDUCTASE FAMILY 7, MEMBER A4 AKR7A4;; AFLATOXIN B1-ALDEHYDE REDUCTASE 3; AFAR3 Asterisk 608479 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 7; SLC26A7 Asterisk 608480 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 8; SLC26A8 TESTIS ANION TRANSPORTER 1; TAT1 Asterisk 608481 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 9; SLC26A9 Asterisk 608482 MATRIX METALLOPROTEINASE 25; MMP25 MEMBRANE-TYPE MATRIX METALLOPROTEINASE 6;; MT6-MMP;; LEUKOLYSIN;; MMP20A Asterisk 608483 AKT-INTERACTING PROTEIN; AKTIP FUSED TOES, MOUSE, HOMOLOG OF; FTS;; FT1 NULL 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA CORNEAL OPACITIES, CONGENITAL, WITH CORNEA GUTTATA AND CORECTOPIA Asterisk 608485 TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 2; TRAM2 KIAA0057 Asterisk 608486 METASTASIS SUPPRESSOR 1; MTSS1 MIM;; KIAA0429 Asterisk 608487 TRIPARTITE MOTIF-CONTAINING PROTEIN 5; TRIM5 RNF88 Asterisk 608488 SPARC-RELATED MODULAR CALCIUM-BINDING 1; SMOC1 SECRETED MODULAR CALCIUM-BINDING PROTEIN 1 Asterisk 608489 STROMAL ANTIGEN 3; STAG3 STROMALIN 3;; COHESIN SUBUNIT SA3 Asterisk 608490 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 1; SLC38A1 AMINO ACID TRANSPORTER SYSTEM A, MEMBER 1; ATA1;; N-SYSTEM AMINO ACID TRANSPORTER 2; NAT2 Asterisk 608491 CYCLIN D-BINDING MYB-LIKE TRANSCRIPTION FACTOR 1; DMTF1 DMP1 Asterisk 608492 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY F, MEMBER 1; OR5F1 OR11-10 Asterisk 608493 OLFACTORY RECEPTOR, FAMILY 10, SUBFAMILY A, MEMBER 1; OR10A1 OR11-403 Asterisk 608494 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY D, MEMBER 2; OR2D2 OR11-610 Asterisk 608495 OLFACTORY RECEPTOR, FAMILY 6, SUBFAMILY A, MEMBER 2; OR6A2 OR6A1;; OR11-55 Asterisk 608496 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY I, MEMBER 1; OR5I1 OLF1 Asterisk 608497 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY F, MEMBER 1; OR2F1 OLF3 Asterisk 608498 ZONA PELLUCIDA-BINDING PROTEIN; ZPBP ZPBP1;; SP38 Asterisk 608499 ZONA PELLUCIDA-BINDING PROTEIN 2; ZPBP2 ZONA PELLUCIDA BINDING PROTEIN-LIKE; ZPBPL Asterisk 608500 PRICKLE, DROSOPHILA, HOMOLOG OF, 1; PRICKLE1 PK1;; PRICKLE-LIKE 1;; REST-INTERACTING LIM DOMAIN PROTEIN; RILP Asterisk 608501 PRICKLE, DROSOPHILA, HOMOLOG OF, 2; PRICKLE2 PRICKLE-LIKE 2 Asterisk 608502 POLY(rC)-BINDING PROTEIN 3; PCBP3 ALPHA-CP3 Asterisk 608503 POLY(rC)-BINDING PROTEIN 4; PCBP4 ALPHA-CP4;; MCG10 Asterisk 608504 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 15; ARHGEF15 EPHEXIN 5; E5;; KIAA0915 Caret 608505 MOVED TO 225750 Asterisk 608506 MITOFUSIN 1; MFN1 Asterisk 608507 MITOFUSIN 2; MFN2 KIAA0214 Asterisk 608508 CYTOCHROME b(-245), ALPHA SUBUNIT; CYBA CYTOCHROME b(558), ALPHA SUBUNIT;; p22-PHOX;; CYTOCHROME b LIGHT CHAIN NULL 608509 ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA Asterisk 608510 SH2 DOMAIN-CONTAINING 1B; SH2D1B EWS/FLI1-ACTIVATED TRANSCRIPT 2; EAT2 Asterisk 608511 PHYTANOYL-CoA HYDROXYLASE-INTERACTING PROTEIN; PHYHIP PAHX-ASSOCIATED PROTEIN 1; PAHXAP1;; KIAA0273 Asterisk 608512 NEUTROPHIL CYTOSOLIC FACTOR 1; NCF1 NOXO2;; p47-PHOX Asterisk 608513 RIBONUCLEASE P, RNA COMPONENT H1; RPPH1 H1 RNA; H1RNA Asterisk 608514 ANDROGEN-INDUCED GENE 1; AIG1 Asterisk 608515 NEUTROPHIL CYTOSOLIC FACTOR 2; NCF2 p67-PHOX;; NOXA2 Number Sign 608516 MAJOR DEPRESSIVE DISORDER; MDD UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER, INCLUDED; SAD, INCLUDED Asterisk 608517 MYOPALLADIN; MYPN NULL 608518 OROFACIODIGITAL SYNDROME VII; OFD7 OFDS VII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE VII;; WHELAN SYNDROME Asterisk 608519 F-BOX ONLY PROTEIN 16; FBXO16 FBX16 Percent 608520 MAJOR DEPRESSIVE DISORDER 1 MDD1;; UNIPOLAR DEPRESSION 1 Asterisk 608521 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 5; LAMTOR5 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 5;; HEPATITIS B VIRUS X PROTEIN-INTERACTING PROTEIN; HBXIP;; HBX-INTERACTING PROTEIN; XIP Asterisk 608522 HEPATITIS B VIRUS X-ASSOCIATED PROTEIN; HBXAP REMODELING AND SPACING FACTOR 1; RSF1 Asterisk 608523 DIO3, OPPOSITE STRAND; DIO3OS Asterisk 608524 INHIBITOR OF GROWTH 4; ING4 Asterisk 608525 INHIBITOR OF GROWTH 5; ING5 Percent 608526 PERIODONTITIS, AGGRESSIVE, 2 Asterisk 608527 NEURAMINIDASE 4; NEU4 Asterisk 608528 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS U PROTEIN; PIGU CELL DIVISION CYCLE 91, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC91L1 Asterisk 608529 FIBRILLIN 3; FBN3 KIAA1776 Asterisk 608530 BTB/POZ DOMAIN-CONTAINING PROTEIN 1; BTBD1 Asterisk 608531 BTB/POZ DOMAIN-CONTAINING PROTEIN 2; BTBD2 Asterisk 608532 NON-SMC CONDENSIN II COMPLEX SUBUNIT G2; NCAPG2 CONDENSIN II COMPLEX, NON-SMC SUBUNIT G2;; CHROMOSOME-ASSOCIATED PROTEIN G2; CAPG2;; MORE THAN BLOOD, MOUSE, HOMOLOG OF; MTB Asterisk 608533 F-BOX ONLY PROTEIN 38; FBXO38 FBX38;; MODULATOR OF KLF7 ACTIVITY, MOUSE, HOMOLOG OF; MOKA Asterisk 608534 ACTIN-RELATED PROTEIN M1 ARPM1 Asterisk 608535 ACTIN-RELATED PROTEIN T2; ACTRT2 ARPT2;; ACTIN-RELATED PROTEIN M2; ARPM2 Asterisk 608536 GTP-BINDING PROTEIN 3; GTPBP3 MSS1, S. CEREVISIAE, HOMOLOG OF; MSS1 Asterisk 608537 VHL GENE; VHL Asterisk 608538 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5B; ARID5B ARID-CONTAINING PROTEIN 5B;; MODULATOR RECOGNITION FACTOR 2; MRF2;; DESRT, MOUSE, HOMOLOG OF; DESRT Asterisk 608539 GLIS FAMILY ZINC FINGER PROTEIN 2; GLIS2 GLI-SIMILAR PROTEIN 2 Number Sign 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K CDG Ik; CDGIk Asterisk 608541 RHO GTPase INVOLVED IN BETA-CATENIN, N-CADHERIN, AND NMDA RECEPTOR SIGNALING RICS;; GTPase INTERACTING WITH TRKA; GRIT;; p200RHOGAP;; p250GAP;; KIAA0712 PX-RICS ISOFORM, INCLUDED; PXRICS, INCLUDED Percent 608542 ANEURYSM, INTRACRANIAL BERRY, 2; ANIB2 Percent 608543 SCHIZOPHRENIA 12 SCZD12;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED Asterisk 608544 HISTONE DEACETYLASE 10; HDAC10 Percent 608545 LARSEN-LIKE SYNDROME LRSL Asterisk 608546 EUKARYOTIC TRANSLATION INITIATION FACTOR 4A, ISOFORM 3; EIF4A3 DEAD/H BOX 48; DDX48;; NUK34;; NUCLEAR MATRIX PROTEIN 265; NMP265;; KIAA0111 Asterisk 608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1 VKOR;; FLJ00289 Asterisk 608548 HEMICENTIN; HMCN1 FIBULIN 6; FBLN6;; FIBL6 Asterisk 608549 VACUOLAR PROTEIN SORTING 11, YEAST, HOMOLOG OF; VPS11 Asterisk 608550 VACUOLAR PROTEIN SORTING 16, YEAST, HOMOLOG OF; VPS16 Asterisk 608551 VACUOLAR PROTEIN SORTING 18, YEAST, HOMOLOG OF; VPS18 KIAA1475 Asterisk 608552 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B; VPS33B Number Sign 608553 LEBER CONGENITAL AMAUROSIS 9; LCA9 Asterisk 608554 NEURONAL PAS DOMAIN PROTEIN 4; NPAS4 HLH-PAS TRANSCRIPTION FACTOR NXF; NXF Asterisk 608555 METAXIN 2; MTX2 Number Sign 608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO Percent 608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2 MCI2 Percent 608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 5; BMIQ5 Percent 608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 6; BMIQ6 Asterisk 608560 STABILIN 1; STAB1 MS-1 ANTIGEN;; FASCICLIN EGF-LIKE, LAMININ-TYPE EGF-LIKE, AND LINK DOMAIN-CONTAINING SCAVENGER RECEPTOR 1; FEEL1;; KIAA0246 Asterisk 608561 STABILIN 2; STAB2 HEPATIC HYALURONAN CLEARANCE RECEPTOR;; FASCICLIN EGF-LIKE, LAMININ-TYPE EGF-LIKE, AND LINK DOMAIN-CONTAINING SCAVENGER RECEPTOR 2; FEEL2 Percent 608562 POLYDACTYLY, POSTAXIAL, TYPE A4 PAPA4;; POSTAXIAL POLYDACTYLY, TYPE A4 Caret 608563 MOVED TO 204650 Asterisk 608564 G PROTEIN-COUPLED RECEPTOR KINASE-INTERACTING PROTEIN 2; GIT2 GRK-INTERACTING PROTEIN 2;; COOL-INTERACTING TYROSINE-PHOSPHORYLATED PROTEIN 2; CAT2;; KIAA0148 Number Sign 608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35 Asterisk 608566 MUCIN 15, TRANSMEMBRANE; MUC15 PASIII;; PAS3;; GLYCOPROTEIN C;; GLYCOPROTEIN 4;; COMPONENT II Number Sign 608567 SICK SINUS SYNDROME 1; SSS1 SINUS RHYTHM, CONGENITAL ABSENCE OF;; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE;; SICK SINUS SYNDROME, CONGENITAL;; SINUS BRADYCARDIA SYNDROME, FAMILIAL Asterisk 608568 MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14 NONMUSCLE MYOSIN HEAVY CHAIN IIC;; NMHC IIC;; KIAA2034 Number Sign 608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O CARDIOMYOPATHY, DILATED, WITH VENTRICULAR TACHYCARDIA Asterisk 608570 AHNAK NUCLEOPROTEIN 2; AHNAK2 CHROMOSOME 14 OPEN READING FRAME 78; C14ORF78;; KIAA2019 NULL 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY Number Sign 608572 BURN-MCKEOWN SYNDROME; BMKS OCULOOTOFACIAL DYSPLASIA; OOFD Caret 608573 MOVED TO 605096 Asterisk 608574 EMSY GENE; EMSY CHROMOSOME 11 OPEN READING FRAME 30; C11ORF30 Asterisk 608575 RETINOL DEHYDROGENASE 8; RDH8 RETINOL DEHYDROGENASE, ALL-TRANS;; RETINOL DEHYDROGENASE, PHOTORECEPTOR; PRRDH Asterisk 608576 GRAINYHEAD-LIKE 2; GRHL2 GRAINYHEAD, DROSOPHILA, HOMOLOG OF, 2;; BROTHER OF GRAINYHEAD; BOM;; TRANSCRIPTION FACTOR CP2-LIKE 3; TFCP2L3 Asterisk 608577 CHURCHILL DOMAIN-CONTAINING 1; CHURC1 CHURCHILL; CHCH;; CHROMOSOME 14 OPEN READING FRAME 52; C14ORF52 Caret 608578 MOVED TO 243310 Number Sign 608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO, INCLUDED;; STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO, INCLUDED;; HYPERSENSITIVITY SYNDROME, CARBAMAZEPINE-INDUCED, SUSCEPTIBILITY TO, INCLUDED NULL 608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16 Asterisk 608581 RP1-LIKE PROTEIN 1; RP1L1 Asterisk 608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7 VASCULAR ENDOTHELIAL STATIN;; VE-STATIN Percent 608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1 ATRIAL FIBRILLATION, AUTOSOMAL DOMINANT Number Sign 608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 ASRT2 Percent 608585 BRACHIAL PALSY, FAMILIAL CONGENITAL Percent 608586 KERATOCONUS 3; KTCN3 Asterisk 608587 LGP1, MOUSE, HOMOLOG OF LGP1;; D11LGP1 Asterisk 608588 DEXH BOX POLYPEPTIDE 58; DHX58 LGP2, MOUSE, HOMOLOG OF; LGP2;; D11LGP2 Asterisk 608589 SLAM FAMILY, MEMBER 9; SLAMF9 CD2 FAMILY, MEMBER 10; CD2F10 Caret 608590 MOVED TO 608358 Caret 608591 MOVED TO 614436 Asterisk 608592 CTD SMALL PHOSPHATASE-LIKE; CTDSPL CTDSP-LIKE;; SMALL CTD PHOSPHATASE 3; SCP3;; HYA22;; RBSP3 Asterisk 608593 COMPLEMENT FACTOR H-RELATED 5; CFHR5 FACTOR H-RELATED GENE 5; FHR5;; CFHL5 Number Sign 608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1; BSCL1;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 1;; BRUNZELL SYNDROME, AGPAT2-RELATED Asterisk 608595 NEUROPEPTIDE S RECEPTOR 1; NPSR1 G PROTEIN-COUPLED RECEPTOR 154; GPR154;; G PROTEIN-COUPLED RECEPTOR FOR ASTHMA SUSCEPTIBILITY; GPRA;; VASOPRESSIN RECEPTOR-RELATED RECEPTOR 1; VRR1;; PGR14 Asterisk 608596 ASTHMA-ASSOCIATED ALTERNATIVELY SPLICED GENE 1 AAA1 Asterisk 608597 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 2; NEURL2 NEURALIZED-LIKE 2;; OZZ Asterisk 608598 CANCER SUSCEPTIBILITY CANDIDATE 2; CASC2 Asterisk 608599 RAB11 FAMILY-INTERACTING PROTEIN 2; RAB11FIP2 KIAA0941 Percent 608600 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1 LIPODYSTROPHY, FAMILIAL PARTIAL, KOBBERLING TYPE Asterisk 608601 FIBROSIN 1; FBS1 Asterisk 608602 NUCLEAR BODY PROTEIN SP140; SP140 SPECKLED, 140-KD;; LYMPHOID-RESTRICTED SP100 HOMOLOG; LYSP100 Asterisk 608603 GLIOMEDIN; GLDN CANCER-RELATED GENE, LIVER, 2; CRGL2 Asterisk 608604 RETINOL-BINDING PROTEIN 7; RBP7 CELLULAR RETINOL-BINDING PROTEIN 4; CRBP4;; CRBPIV Asterisk 608605 OLIGOSACCHARYLTRANSFERASE COMPLEX, CATALYTIC SUBUNIT STT3B; STT3B STT3, S. CEREVISIAE, HOMOLOG OF, B;; SOURCE OF IMMUNODOMINANT MAJOR HISTOCOMPATIBILITY COMPLEX-ASSOCIATED PEPTIDES;; SOURCE OF IMMUNODOMINANT MHC-ASSOCIATED PEPTIDES; SIMP Asterisk 608606 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A15; BHLHA15 BASIC HELIX-LOOP-HELIX PROTEIN MIST1; MIST1 Asterisk 608607 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 12; NBPF12 CHROMOSOME 1 AMPLIFIED SEQUENCE 1; COAS1;; KIAA1245 Asterisk 608608 PEPTIDYL-PROLYL ISOMERASE A-LIKE PROTEIN 4E; PPIAL4E PPIA-LIKE PROTEIN 4E;; CYCLOPHILIN A-LIKE PROTEIN 4E;; CHROMOSOME 1 AMPLIFIED SEQUENCE 2;; COAS2 Asterisk 608609 CHROMOSOME 1 OPEN READING FRAME 152; C1ORF152 CHROMOSOME 1 AMPLIFIED SEQUENCE 3; COAS3 Asterisk 608610 PROGRAMMED CELL DEATH 4; PDCD4 NEOPLASTIC TRANSFORMATION INHIBITOR Number Sign 608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY; RPIAD Number Sign 608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA Asterisk 608613 TRANSCRIPTION FACTOR Sp6; SP6 KRUPPEL-LIKE FACTOR 14; KLF14;; EPIPROFIN; EPFN Asterisk 608614 CYTOCHROME P450, FAMILY 4, SUBFAMILY V, POLYPEPTIDE 2; CYP4V2 Number Sign 608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS TOOTH AGENESIS-COLORECTAL CANCER SYNDROME Asterisk 608616 OBSCURIN; OBSCN KIAA1556;; KIAA1639 OBSCURIN-RHOGEF, INCLUDED;; OBSCURIN-MLCK, INCLUDED Asterisk 608617 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER B; FAM3B Asterisk 608618 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER C; FAM3C Asterisk 608619 FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER D; FAM3D Caret 608620 MOVED TO 605232 Asterisk 608621 SPERM AUTOANTIGENIC PROTEIN 17; SPA17 SP17 Number Sign 608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO Caret 608623 MOVED TO 276300 NULL 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA Asterisk 608625 PEPTIDYL-tRNA HYDROLASE 2; PTRH2 BCL2 INHIBITOR OF TRANSCRIPTION 1; BIT1 Asterisk 608626 STE20-RELATED KINASE ADAPTOR ALPHA; STRADA STE20-RELATED ADAPTOR PROTEIN; STRAD;; LYK5 Number Sign 608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 Asterisk 608628 TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1; TBL1XR1 TBL1X RECEPTOR 1;; TBL1-RELATED PROTEIN 1; TBLR1;; IRA1, MOUSE, HOMOLOG OF; IRA1;; C21 Number Sign 608629 JOUBERT SYNDROME 3; JBTS3 Asterisk 608630 ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 3; ROBO3 RB-INHIBITING GENE 1; RBIG1; RIG1 Percent 608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2; ASPG2 Asterisk 608632 MICRO RNA 196A1; MIR196A1 miRNA196A1;; MIRN196A1 Asterisk 608633 CASPASE 12, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP12 CASP12P1 Number Sign 608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B HMN IIB;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; DHMN2B Asterisk 608635 ARFGAP WITH DUAL PLECKSTRIN HOMOLOGY DOMAINS 2; ADAP2 CENTAURIN, ALPHA-2; CENTA2 Number Sign 608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4, INCLUDED; AUTS4, INCLUDED;; CHROMOSOME 15q11.2 DUPLICATION SYNDROME, INCLUDED Caret 608637 MOVED TO 143095 Percent 608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1; ASPG1 Asterisk 608639 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 8; PLEKHA8 PHOSPHATIDYLINOSITOL 4-PHOSPHATE ADAPTOR PROTEIN 2; FAPP2 Asterisk 608640 ZINC FINGER PROTEIN 461; ZNF461 GONADOTROPIN-INDUCIBLE TRANSCRIPTION REPRESSOR 1, RAT, HOMOLOG OF;; GIOT1, RAT, HOMOLOG OF; GIOT1 Number Sign 608641 DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28 Asterisk 608642 ZINC-BINDING ALCOHOL DEHYDROGENASE DOMAIN-CONTAINING PROTEIN 1; ZADH1 Number Sign 608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY AADC DEFICIENCY;; DOPA DECARBOXYLASE DEFICIENCY;; DDC DEFICIENCY Number Sign 608644 CILIARY DYSKINESIA, PRIMARY, 3; CILD3 CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS Percent 608645 DEAFNESS, AUTOSOMAL DOMINANT 31; DFNA31 Percent 608646 CILIARY DYSKINESIA, PRIMARY, 4; CILD4 CILIARY DYSKINESIA, PRIMARY, 4, WITH OR WITHOUT SITUS INVERSUS Number Sign 608647 CILIARY DYSKINESIA, PRIMARY, 5; CILD5 CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS Asterisk 608648 SEC63, S. CEREVISIAE, HOMOLOG OF; SEC63 Number Sign 608649 ICHTHYOSIS PREMATURITY SYNDROME; IPS ICHTHYOSIS CONGENITA IV Asterisk 608650 UNC51-LIKE KINASE 2; ULK2 KIAA0623;; UNC51.2 Asterisk 608651 ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 1; AGAP1 CENTAURIN, GAMMA-2; CENTG2;; KIAA1099 HUMAN-ACCELERATED CONSERVED NONCODING SEQUENCE 1, INCLUDED; HACNS1, INCLUDED Percent 608652 DEAFNESS, AUTOSOMAL DOMINANT 47; DFNA47 Number Sign 608653 DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM; DFNB32 HEARING IMPAIRMENT INFERTILE MALE SYNDROME; HIIMS;; DEAFNESS, AUTOSOMAL RECESSIVE 105, FORMERLY; DFNB105, FORMERLY Number Sign 608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 HSAN V;; INSENSITIVITY TO PAIN, CONGENITAL Asterisk 608655 GAP JUNCTION PROTEIN, GAMMA-1; GJC1 GAP JUNCTION PROTEIN, ALPHA-7; GJA7;; GAP JUNCTION PROTEIN, 45-KD;; CONNEXIN 45; CX45 Percent 608656 PROSTATE CANCER, HEREDITARY, 3 HPC3 Asterisk 608657 JUN DIMERIZATION PROTEIN 2; JDP2 Percent 608658 PROSTATE CANCER, HEREDITARY, 4 HPC4;; PROSTATE CANCER, HEREDITARY, ON CHROMOSOME 7 Asterisk 608659 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 8; SENP8 NEDD8-SPECIFIC PROTEASE 1; NEDP1;; DENEDDYLASE 1; DEN1 Asterisk 608660 INSULIN-INDUCED GENE 2; INSIG2 Asterisk 608661 PODOCAN; PODN Asterisk 608662 ANOCTAMIN 5; ANO5 TRANSMEMBRANE PROTEIN 16E; TMEM16E;; GDD1 GENE; GDD1 Asterisk 608663 ANOCTAMIN 6; ANO6 TRANSMEMBRANE PROTEIN 16F; TMEM16F Caret 608664 MOVED TO 210600 Asterisk 608665 PSMC3-INTERACTING PROTEIN; PSMC3IP TBP1-INTERACTING PROTEIN; TBPIP;; GT198;; HOP2, S. CEREVISIAE, HOMOLOG OF; HOP2 Asterisk 608666 PEROXISOME BIOGENESIS FACTOR 26; PEX26 PEROXIN 26 Asterisk 608667 NIPPED-B-LIKE; NIPBL NIPPED-B, DROSOPHILA, HOMOLOG OF;; DELANGIN;; SISTER CHROMATID COHESION 2, S. CEREVISIAE, HOMOLOG OF; SCC2 Asterisk 608668 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11; ZMYND11 BS69 BONE MORPHOGENETIC PROTEIN RECEPTOR-ASSOCIATED MOLECULE 1, INCLUDED; BRAM1, INCLUDED Asterisk 608669 BASONUCLIN 2; BNC2 NULL 608670 ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY Asterisk 608671 DAZ-INTERACTING ZINC FINGER PROTEIN 1; DZIP1 DAZ-INTERACTING PROTEIN 1;; DZIP;; KIAA0996 Asterisk 608672 DAZ-INTERACTING ZINC FINGER PROTEIN 3; DZIP3 DAZ-INTERACTING PROTEIN 3;; KIAA0675 Number Sign 608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L; CMT2L CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L Asterisk 608674 SH3 DOMAIN PROTEIN 19 SH3D19;; EEN-BINDING PROTEIN; EBP SH3D19/RUNX1 FUSION GENE, INCLUDED Asterisk 608675 FUCOSE KINASE; FCSK FUCOKINASE; FUK;; L-FUCOSE KINASE Asterisk 608676 TAXILIN, ALPHA; TXLNA TXLN;; INTERLEUKIN 14; IL14 Asterisk 608677 MINDBOMB, DROSOPHILA, HOMOLOG OF, 1; MIB1 MIB;; DAPK-INTERACTING PROTEIN 1; DIP1;; KIAA1323 Asterisk 608678 INTERLEUKIN 33; IL33 NUCLEAR FACTOR FROM HIGH ENDOTHELIAL VENULES; NFHEV;; IL1F11;; CHROMOSOME 9 OPEN READING FRAME 26; C9ORF26 Asterisk 608679 TP53-REGULATING KINASE; TP53RK p53-RELATED PROTEIN KINASE; PRPK Asterisk 608680 TP53RK-BINDING PROTEIN; TPRKB PRPK-BINDING PROTEIN;; CGI-121 Number Sign 608681 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2 Asterisk 608682 ADRENOMEDULLIN 2; ADM2 AM2;; INTERMEDIN Asterisk 608683 CYSTATIN 8; CST8 CYSTATIN-RELATED PROTEIN, EPIDIDYMIS-SPECIFIC; CRES Asterisk 608684 NINEIN; NIN GSK3B-INTERACTING PROTEIN;; KIAA1565 Asterisk 608685 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1B; SMC1B STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 2; SMC1L2;; SMC1-BETA Asterisk 608686 RAB3A-INTERACTING PROTEIN; RAB3IP RABIN8;; RABIN3, RAT, HOMOLOG OF; RABIN3 Number Sign 608687 SPINOCEREBELLAR ATAXIA 20; SCA20 CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB;; SPINOCEREBELLAR ATAXIA WITH DYSPHONIA;; SPINOCEREBELLAR ATAXIA WITH SPASMODIC COUGH Number Sign 608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY ATIC DEFICIENCY;; AICA-RIBOSURIA DUE TO ATIC DEFICIENCY Asterisk 608689 MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 1; MESP1 MESODERM POSTERIOR PROTEIN 1 Asterisk 608690 SSX2-INTERACTING PROTEIN; SSX2IP AFADIN DIL DOMAIN-INTERACTING PROTEIN; ADIP;; KIAA0923 Percent 608691 MAJOR DEPRESSIVE DISORDER 2 MDD2;; UNIPOLAR DEPRESSION 2 Asterisk 608692 BASIC LEUCINE ZIPPER NUCLEAR FACTOR 1; BLZF1 JEM1;; GOLGIN 45 Asterisk 608693 GOLGI REASSEMBLY STACKING PROTEIN 2; GORASP2 GOLGI REASSEMBLY STACKING PROTEIN, 55-KD; GRASP55 Asterisk 608694 ZINC FINGER PROTEIN 622; ZNF622 ZPR9 Percent 608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 2; JOAG2 Percent 608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 3; JOAG3 Asterisk 608697 FACTOR IN GERMLINE ALPHA, MOUSE, HOMOLOG OF; FIGLA FOLLICULOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR Asterisk 608698 DISCOIDIN, CUB, AND LCCL DOMAIN-CONTAINING PROTEIN 2; DCBLD2 ENDOTHELIAL AND SMOOTH MUSCLE CELL-DERIVED NEUROPILIN-LIKE PROTEIN; ESDN Asterisk 608699 BONE MORPHOGENETIC PROTEIN-BINDING ENDOTHELIAL REGULATOR PROTEIN; BMPER BMP-BINDING ENDOTHELIAL CELL PRECURSOR-DERIVED REGULATOR;; CROSSVEINLESS 2, DROSOPHILA, HOMOLOG OF; CV2 Asterisk 608700 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 1; NMNAT1 NMNAT;; PYRIDINE NUCLEOTIDE ADENYLYLTRANSFERASE 1; PNAT1 Asterisk 608701 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 2; NMNAT2 PYRIDINE NUCLEOTIDE ADENYLYLTRANSFERASE 2; PNAT2;; KIAA0479 Asterisk 608702 NICOTINAMIDE NUCLEOTIDE ADENYLYLTRANSFERASE 3; NMNAT3 PYRIDINE NUCLEOTIDE ADENYLYLTRANSFERASE 3; PNAT3 Percent 608703 SPINOCEREBELLAR ATAXIA 25; SCA25 Asterisk 608704 NICOTINAMIDE RIBOSIDE KINASE 1; NMRK1 NRK1;; CHROMOSOME 9 OPEN READING FRAME 95; C9ORF95 Asterisk 608705 INTEGRIN, BETA-1, BINDING PROTEIN OF, 3; ITGB1BP3 MUSCLE INTEGRIN-BINDING PROTEIN; MIBP NICOTINAMIDE RIBOSIDE KINASE 2, INCLUDED; NRK2, INCLUDED Asterisk 608706 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 4; DNAAF4 DYX1C1 GENE; DYX1C1;; DYXC1;; EKN1 Asterisk 608707 CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON CDO Asterisk 608708 BROTHER OF CDON; BOC BROTHER OF CDO Number Sign 608709 LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD APLD, SUSCEPTIBILITY TO;; BARRAQUER-SIMONS SYNDROME;; LIPODYSTROPHY, CEPHALOTHORACIC TYPE;; LIPODYSTROPHY, PARTIAL, PROGRESSIVE Percent 608710 GRANULOMATOSIS WITH POLYANGIITIS; GPA WEGENER GRANULOMATOSIS, FORMERLY; WG, FORMERLY Asterisk 608711 CTD SMALL PHOSPHATASE 2; CTDSP2 SMALL CTD PHOSPHATASE 2; SCP2;; CONSERVED GENE AMPLIFIED IN OSTEOSARCOMA 4; OS4 Asterisk 608712 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, T; PTPRT RPTP-RHO;; KIAA0283 Asterisk 608713 CYTOCHROME P450, SUBFAMILY IIR, POLYPEPTIDE 1; CYP2R1 Asterisk 608714 SYNTROPHIN, GAMMA-1; SNTG1 SYN4 Asterisk 608715 SYNTROPHIN, GAMMA-2; SNTG2 SYN5 Number Sign 608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 Asterisk 608717 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 13; LGALS13 GALECTIN 13; GAL13;; PLACENTAL PROTEIN 13; PP13 Asterisk 608718 KERATIN-ASSOCIATED PROTEIN 13-1; KRTAP13-1 KAP13.1 Asterisk 608719 TR4-ASSOCIATED PROTEIN, 16-KD TRA16 NULL 608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA Asterisk 608721 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 2; CAMK2N2 CAMKII INHIBITORY PROTEIN; CAMKIIN;; CAMKIIN-BETA Asterisk 608722 CAPPING PROTEIN, ALPHA-3; CAPZA3 CAP PROTEIN, ACTIN, ALPHA-3 SUBUNIT; CAPPA3;; CP-ALPHA-3 Asterisk 608723 PHOSPHATASE AND ACTIN REGULATOR 1; PHACTR1 KIAA1733 Asterisk 608724 PHOSPHATASE AND ACTIN REGULATOR 2; PHACTR2 KIAA0680 Asterisk 608725 PHOSPHATASE AND ACTIN REGULATOR 3; PHACTR3 SCAFFOLD-ASSOCIATED PROTEIN PHOSPHATASE 1-INHIBITING PROTEIN; SCAPININ Asterisk 608726 PHOSPHATASE AND ACTIN REGULATOR 4; PHACTR4 Asterisk 608727 DE-ETIOLATED 1, ARABIDOPSIS, HOMOLOG OF; DET1 Number Sign 608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED SEMD, MATN3-RELATED Asterisk 608729 ANGIOTENSIN II RECEPTOR-ASSOCIATED PROTEIN; AGTRAP ATRAP Asterisk 608730 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 5; SLC39A5 Asterisk 608731 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 6; SLC39A6 LIV1;; ZIP6 Asterisk 608732 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 8; SLC39A8 BIGM103;; ZIP8 Asterisk 608733 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 10; SLC39A10 KIAA1265 Asterisk 608734 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 12; SLC39A12 ZRT- AND IRT-LIKE PROTEIN 12; ZIP12 Asterisk 608735 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 13; SLC39A13 ZIP13;; LZT-HS9 Asterisk 608736 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 14; SLC39A14 ZIP14;; KIAA0062 Asterisk 608737 RAB11 FAMILY-INTERACTING PROTEIN 1; RAB11FIP1 RAB-COUPLING PROTEIN, INCLUDED; RCP, INCLUDED Asterisk 608738 RAB11 FAMILY-INTERACTING PROTEIN 3; RAB11FIP3 EF-HANDS-CONTAINING RAB-INTERACTING PROTEIN; EFERIN;; KIAA0665 Asterisk 608739 EXORIBONUCLEASE 1; ERI1 HISTONE mRNA 3-PRIME END-SPECIFIC EXORIBONUCLEASE; HEXO Asterisk 608740 NFAT ACTIVATING PROTEIN WITH ITAM MOTIF 1; NFAM1 NFAT ACTIVATION MOLECULE 1;; CALCINEURIN- AND NFAT-ACTIVATING ITAM-CONTAINING PROTEIN; CNAIP Asterisk 608741 SYNAPTOTAGMIN 11; SYT11 KIAA0080 Percent 608742 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4 HYT4 Asterisk 608743 JP45, MOUSE, HOMOLOG OF JP45 Asterisk 608744 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 24; SLC25A24 SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 1; SCAMC1 Asterisk 608745 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 25; SLC25A25 SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 2; SCAMC2;; MITOCHONDRIAL CALCIUM-DEPENDENT SOLUTE CARRIER; MCSC;; KIAA1896 Asterisk 608746 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 23; SLC25A23 SHORT CALCIUM-BINDING MITOCHONDRIAL CARRIER 3; SCAMC3 Number Sign 608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY IGF1 DEFICIENCY;; GROWTH RETARDATION WITH SENSORINEURAL DEAFNESS AND MENTAL RETARDATION Asterisk 608748 BONE MORPHOGENETIC PROTEIN 10; BMP10 Asterisk 608749 BROMODOMAIN-CONTAINING PROTEIN 4; BRD4 MITOTIC CHROMOSOME-ASSOCIATED PROTEIN; MCAP; CAP;; HUNK1 BRD4/NUT FUSION GENE, INCLUDED Asterisk 608750 ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3 NOT56-LIKE PROTEIN; NOT56L Number Sign 608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 1 Asterisk 608752 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 5; C1QTNF5 CTRP5 Asterisk 608753 tRNA SPLICING ENDONUCLEASE 2, S. CEREVISIAE, HOMOLOG OF; TSEN2 SEN2, YEAST, HOMOLOG OF; SEN2 Asterisk 608754 tRNA SPLICING ENDONUCLEASE 34, S. CEREVISIAE, HOMOLOG OF; TSEN34 LEUKOCYTE RECEPTOR CLUSTER GENE 5; LENG5;; SEN34, YEAST, HOMOLOG OF; SEN34 Asterisk 608755 tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF; TSEN54 SEN54, YEAST, HOMOLOG OF; SEN54 Asterisk 608756 tRNA SPLICING ENDONUCLEASE 15, S. CEREVISIAE, HOMOLOG OF; TSEN15 SEN15, YEAST, HOMOLOG OF; SEN15;; CHROMOSOME 1 OPEN READING FRAME 19; C1ORF19 Asterisk 608757 CLEAVAGE AND POLYADENYLATION FACTOR I SUBUNIT 1, YEAST, HOMOLOG OF; CLP1 CLP1, YEAST, HOMOLOG OF; HEAB HEAB/AF10 FUSION GENE, INCLUDED Number Sign 608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2 Asterisk 608759 CYTOGLOBIN; CYGB HISTOGLOBIN; HGB;; STELLATE CELL ACTIVATION-ASSOCIATED PROTEIN; STAP Asterisk 608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7 APG7, S. CEREVISIAE, HOMOLOG OF, APG7;; APG7-LIKE; APG7L;; GSA7 Asterisk 608761 SOLUTE CARRIER FAMILY 5 (CHOLINE TRANSPORTER), MEMBER 7; SLC5A7 CHOLINE TRANSPORTER; CHT; CHT1 Percent 608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 9 NULL 608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE EHLERS-DANLOS SYNDROME WITH MENTAL RETARDATION, DEAFNESS, AND CATARACT Asterisk 608764 NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; NAMPT PRE-B-CELL COLONY-ENHANCING FACTOR 1; PBEF1;; PBEF;; VISFATIN; VF Percent 608765 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3; IS3 Asterisk 608766 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 1B; LRP1B LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN DELETED IN TUMORS; LRPDIT Asterisk 608767 FEM1, C. ELEGANS, HOMOLOG OF, C; FEM1C KIAA1785 Number Sign 608768 SPINOCEREBELLAR ATAXIA 8; SCA8 Asterisk 608769 PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX PDX1;; PYRUVATE DEHYDROGENASE COMPLEX, E3-BINDING PROTEIN SUBUNIT; E3BP;; PYRUVATE DEHYDROGENASE COMPLEX, LIPOYL-CONTAINING COMPONENT X Asterisk 608770 DIHYDROLIPOAMIDE S-ACETYLTRANSFERASE; DLAT PYRUVATE DEHYDROGENASE COMPLEX, E2 SUBUNIT; PDCE2;; M2 ANTIGEN COMPLEX, 70-KD SUBUNIT Asterisk 608771 MEDIATOR COMPLEX SUBUNIT 13-LIKE; MED13L THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 2; THRAP2;; PROTEIN SIMILAR TO TRAP240; PROSIT240;; TRAP240-LIKE PROTEIN; TRAP240L;; KIAA1025 Asterisk 608772 INVASION INHIBITORY PROTEIN, 45-KD IIP45 Asterisk 608773 TUBULIN POLYMERIZATION-PROMOTING PROTEIN; TPPP p25;; p24 Asterisk 608774 ANKYRIN REPEAT- AND KINASE DOMAIN-CONTAINING PROTEIN 1; ANKK1 Asterisk 608775 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 1; HAUS1 COILED-COIL DOMAIN-CONTAINING PROTEIN 5; CCDC5;; HUMAN ENHANCER OF INVASION CLUSTER; HEIC Number Sign 608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L CDG Il; CDGIl Asterisk 608777 PERIOSTIN; POSTN PN;; OSTEOBLAST-SPECIFIC FACTOR 2; OSF2 Asterisk 608778 KELCH-LIKE 10; KLHL10 Number Sign 608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E CDG IIe; CDGIIe Asterisk 608780 GENERAL TRANSCRIPTION FACTOR IIH, POLYPEPTIDE 5; GTF2H5 TFIIH BASAL TRANSCRIPTION FACTOR COMPLEX, TTDA SUBUNIT; TTDA;; TFB5;; TRANSCRIPTION FACTOR IIH, 8-KD SUBUNIT;; CHROMOSOME 6 OPEN READING FRAME 175; C6ORF175 Percent 608781 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3; ASPG3 Number Sign 608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD LACTIC ACIDEMIA WITH PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Asterisk 608783 SET AND MYND DOMAIN-CONTAINING PROTEIN 3; SMYD3 Asterisk 608784 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 8; ZDHHC8 ZNF378;; KIAA1292 Asterisk 608785 HTRA SERINE PEPTIDASE 3; HTRA3 HTRA, E. COLI, HOMOLOG OF, 3;; PREGNANCY-RELATED SERINE PROTEASE, MOUSE, HOMOLOG OF; PRSP Asterisk 608786 PYRUVATE CARBOXYLASE; PC Percent 608787 OTOSCLEROSIS 5; OTSC5 Asterisk 608788 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7 NCK-ASSOCIATED PROTEIN 4; NAP4;; NCK-, ASH-, AND PLCG-BINDING PROTEIN 4 Asterisk 608789 NCK-ASSOCIATED PROTEIN 5; NCKAP5 NAP5 Asterisk 608790 TRANSCRIPTIONAL ADAPTOR 2B; TADA2B ADA2, YEAST, HOMOLOG OF, BETA; ADA2B;; ADA2-BETA Asterisk 608791 NUCLEOREDOXIN-LIKE PROTEIN 1; NXNL1 ROD-DERIVED CONE VIABILITY FACTOR; RDCVF;; THIOREDOXIN-LIKE 6, MOUSE, HOMOLOG OF; TXNL6;; LOC115861 Asterisk 608792 GIPC PDZ DOMAIN-CONTAINING FAMILY, MEMBER 3; GIPC3 GAIP C-TERMINUS-INTERACTING PROTEIN 3 Asterisk 608793 SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED-COIL DOMAINS 1; SPECC1 HCMOGT1;; NSP HCMOGT1/PDGFRB FUSION GENE, INCLUDED Asterisk 608794 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 1; PITPNM1 DRES9;; PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 2; NIR2;; RETINAL DEGENERATION GENE B, DROSOPHILA, HOMOLOG OF, ALPHA; RDGBA Asterisk 608795 PHOSPHOLIPASE C, DELTA-3; PLCD3 Percent 608796 MOYAMOYA DISEASE 3; MYMY3 Asterisk 608797 MEI1, MOUSE, HOMOLOG OF; MEI1 SPERMATOGENESIS-ASSOCIATED PROTEIN 38; SPATA38 Asterisk 608798 GASDERMIN E; GSDME DFNA5 GENE; DFNA5;; INVERSELY CORRELATED WITH ESTROGEN RECEPTOR EXPRESSION 1; ICERE1 Number Sign 608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E CDG Ie; CDGIe Number Sign 608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT Asterisk 608801 GLUTARYL-CoA DEHYDROGENASE; GCDH Asterisk 608802 L3MBT-LIKE; L3MBTL L3MBTL1;; L3MBT, DROSOPHILA, HOMOLOG OF, 1;; KIAA0681 Asterisk 608803 GAP JUNCTION PROTEIN, GAMMA-2; GJC2 GAP JUNCTION PROTEIN, ALPHA 12; GJA12;; GAP JUNCTION PROTEIN, 47-KD;; CONNEXIN 47; CX47;; CONNEXIN 46.6; CX46.6 Number Sign 608804 LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 PELIZAEUS-MERZBACHER-LIKE DISEASE, 1; PMLD1 Number Sign 608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 FEMORAL HEAD, AVASCULAR NECROSIS OF; ANFH;; FEMORAL HEAD, ASEPTIC NECROSIS OF;; ISCHEMIC NECROSIS OF FEMORAL HEAD;; OSTEONECROSIS OF FEMORAL HEAD Asterisk 608806 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE-LIKE 2 NAALADL2 Number Sign 608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J Number Sign 608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 D-TGA NULL 608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA; LACH Number Sign 608810 MYOPATHY, MYOFIBRILLAR, 2; MFM2 MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED;; MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE;; ALPHA-B CRYSTALLINOPATHY;; MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY NULL 608811 METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH Number Sign 608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 9;; COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO Asterisk 608813 DER1-LIKE DOMAIN FAMILY, MEMBER 1; DERL1 DEGRADATION IN ENDOPLASMIC RETICULUM 1, YEAST, HOMOLOG OF; DER1;; DERLIN 1 NULL 608814 LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND MIDDLE EAR ABNORMALITIES Asterisk 608815 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1; EFHC1 EF-HAND DOMAIN-CONTAINING PROTEIN 1;; MYOCLONIN 1 Percent 608816 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3; EJM3 Asterisk 608817 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4C; LRRC4C NETRIN-G1 LIGAND; NGL1;; KIAA1580 Asterisk 608818 NETRIN G1; NTNG1 LAMINET 1; LMNT1;; KIAA0976 Asterisk 608819 KERATIN-ASSOCIATED PROTEIN 1-1; KRTAP1-1 KAP1.1 KAP1.1A, INCLUDED;; KAP1.1B, INCLUDED;; KAP1.6, INCLUDED;; KAP1.7, INCLUDED;; B2A, INCLUDED Asterisk 608820 KERATIN-ASSOCIATED PROTEIN 1-3; KRTAP1-3 KAP1.3 KAP1.2, INCLUDED;; KAP18.A, INCLUDED;; KAP18.B, INCLUDED;; KAP1.9, INCLUDED;; B2B, INCLUDED Asterisk 608821 KERATIN-ASSOCIATED PROTEIN 1-4; KRTAP1-4 KAP1.4 Asterisk 608822 KERATIN-ASSOCIATED PROTEIN 1-5; KRTAP1-5 KAP1.5 Asterisk 608823 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 1; CGB1 Asterisk 608824 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 2; CGB2 Asterisk 608825 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 5; CGB5 Asterisk 608826 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 7; CGB7 CGB6, INCLUDED Asterisk 608827 CHORIONIC GONADOTROPIN, BETA POLYPEPTIDE 8; CGB8 Asterisk 608828 RIBONUCLEASE III, NUCLEAR; RNASEN DROSHA, DROSOPHILA, HOMOLOG OF; DROSHA;; RNASE3L;; RN3 Asterisk 608829 SMALL UBIQUITIN-LIKE MODIFIER 4; SUMO4 Asterisk 608830 RETINOL DEHYDROGENASE 12; RDH12 RETINOL DEHYDROGENASE, ALL-TRANS AND 9-CIS Percent 608831 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2; RLS2 Asterisk 608832 GREMLIN 2 HOMOLOG, CYSTINE KNOT SUPERFAMILY; GREM2 PROTEIN RELATED TO DAN AND CERBERUS; PRDC Asterisk 608833 REGULATOR OF TELOMERE ELONGATION HELICASE 1; RTEL1 NOVEL HELICASE-LIKE PROTEIN; NHL;; REGULATOR OF TELOMERE LENGTH; RTEL;; TELOMERE LENGTH REGULATOR;; KIAA1088;; CHROMOSOME 20 OPEN READING FRAME 41; C20ORF41 Asterisk 608834 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 2; CREB3L2 BBF2H7 CREB3L2/FUS FUSION GENE, INCLUDED Asterisk 608835 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 13; ABCC13 Number Sign 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL;; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL;; CPT II DEFICIENCY, LETHAL NEONATAL;; CPT2 DEFICIENCY, LETHAL NEONATAL Number Sign 608837 CARNEY COMPLEX VARIANT Asterisk 608838 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1-LIKE 1; VKORC1L1 Asterisk 608839 CALPAIN 12; CAPN12 Number Sign 608840 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED;; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MDC1D Asterisk 608841 COMPLEMENT COMPONENT 3- AND PREGNANCY ZONE PROTEIN-LIKE ALPHA-2-MACROGLOBULIN DOMAIN-CONTAINING PROTEIN 8; CPAMD8 C3- AND PZP-LIKE A2M DOMAIN-CONTAINING PROTEIN 8;; KIAA1283 Asterisk 608842 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 1; CHCHD1 Asterisk 608843 VASORIN Asterisk 608844 ENDONUCLEASE VIII-LIKE 1; NEIL1 NEI1;; FPG1 Asterisk 608845 ADP-RIBOSYLATION FACTOR-LIKE 6; ARL6 ARF-LIKE 6;; BBS3 GENE Asterisk 608846 CARNITINE PALMITOYLTRANSFERASE IC; CPT1C CARNITINE PALMITOYLTRANSFERASE-I RELATED C;; CARNITINE PALMITOYLTRANSFERASE I, BRAIN Asterisk 608847 FERRITIN, MITOCHONDRIAL; FTMT MITOCHONDRIAL FERRITIN; MTF Asterisk 608848 FORMIN-BINDING PROTEIN 1-LIKE; FNBP1L TRANSDUCER OF CDC42-DEPENDENT ACTIN ASSEMBLY 1; TOCA1;; CHROMOSOME 1 OPEN READING FRAME 39; C1ORF39 Asterisk 608849 U2AF HOMOLOGY MOTIF KINASE 1; UHMK1 KINASE-INTERACTING STATHMIN; KIS Percent 608850 MACULAR DYSTROPHY, RETINAL, 3; MCDR3 Asterisk 608851 5-PRIME,3-PRIME-EXORIBONUCLEASE 2; XRN2 DHM1-LIKE PROTEIN Percent 608852 PULMONARY FUNCTION PLF;; LUNG FUNCTION, ACCELERATED RATE OF DECLINE IN, SMOKING-RELATED Asterisk 608853 BH3-LIKE MOTIF-CONTAINING CELL DEATH INDUCER; BLID BREAST CANCER CELL 2; BRCC2 Asterisk 608854 OXIDORED-NITRO DOMAIN-CONTAINING PROTEIN 1 NOR1 Asterisk 608855 TWEETY, DROSOPHILA, HOMOLOG OF, 2; TTYH2 Asterisk 608856 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 1; CTAGE1 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 2, INCLUDED; CTAGE2, INCLUDED Asterisk 608857 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 3; CTAGE3 Asterisk 608858 FIBROBLAST GROWTH FACTOR RECEPTOR 1 ONCOGENE PARTNER 2; FGFR1OP2 FGFR1OP2/FGFR1 FUSION GENE, INCLUDED Asterisk 608859 CD109 ANTIGEN; CD109 PLATELET-SPECIFIC ANTIGEN SYSTEM GOV, INCLUDED Asterisk 608860 ASTACIN-LIKE METALLOENDOPEPTIDASE; ASTL OVASTACIN Asterisk 608861 ATPase, H+ TRANSPORTING, LYSOSOMAL, 50/57-KD, V1 SUBUNIT H; ATP6V1H NEF-BINDING PROTEIN 1; NBP1;; VMA13, S. CEREVISIAE, HOMOLOG OF; VMA13 Asterisk 608862 NAD(P)HX EPIMERASE; NAXE APOLIPOPROTEIN A-I-BINDING PROTEIN; APOA1BP;; APOA-I-BINDING PROTEIN; AIBP;; APOA1-BINDING PROTEIN Asterisk 608863 PODOPLANIN; PDPN T1-ALPHA GENE; T1A;; T1A2;; GLYCOPROTEIN, 36-KD; GP36;; OTS8;; AGGRUS Number Sign 608864 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6 Asterisk 608865 URB1 RIBOSOME BIOGENESIS 1, S. CEREVISIAE, HOMOLOG OF; URB1 NPA1, YEAST, HOMOLOG OF; NPA1;; CHROMOSOME 21 OPEN READING FRAME 108; C21ORF108;; KIAA0539 Asterisk 608866 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), CANDIDATE GENE 1; FRA10AC1 FRA10A, CANDIDATE GENE 1;; CHROMOSOME 10 OPEN READING FRAME 4; C10ORF4 FRAGILE SITE, FOLIC ACID-TYPE, RARE, FRA(10)(q23.3), INCLUDED; FRA10A, INCLUDED;; FRAGILE SITE 10q23.3, INCLUDED Asterisk 608867 DUAL-SPECIFICITY PHOSPHATASE 10; DUSP10 MAP KINASE PHOSPHATASE 5; MKP5 Asterisk 608868 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 1; LRIG1 LIG1 Asterisk 608869 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 2; LRIG2 LIG2;; KIAA0806 Asterisk 608870 LEUCINE-RICH REPEATS- AND IMMUNOGLOBULIN-LIKE DOMAINS-CONTAINING PROTEIN 3; LRIG3 LIG3 Asterisk 608871 NIPSNAP, C. ELEGANS, HOMOLOG OF, 3A; NIPSNAP3A NIPSNAP4;; TARGET FOR SALMONELLA SECRETED PROTEIN C; TASSC Asterisk 608872 NIPSNAP, C. ELEGANS, HOMOLOG OF, 3B; NIPSNAP3B NIPSNAP3 Asterisk 608873 SEMAPHORIN 6B; SEMA6B Number Sign 608874 OROFACIAL CLEFT 5; OFC5 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5 Percent 608875 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14 GEVQ1 Asterisk 608876 PCF11, YEAST, HOMOLOG OF PCF11;; KIAA0824 Asterisk 608877 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, D; VPS13D Percent 608878 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20 GEVQ2 Asterisk 608879 VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, C; VPS13C KIAA1421 Asterisk 608880 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 16; ZFYVE16 ENDOSOME-ASSOCIATED FYVE DOMAIN PROTEIN; ENDOFIN;; KIAA0305 Asterisk 608881 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 2; MICAL2 FLAVOPROTEIN OXIDOREDUCTASE MICAL2;; KIAA0750 Asterisk 608882 MICROTUBULE-ASSOCIATED MONOOXYGENASE, CALPONIN AND LIM DOMAINS-CONTAINING, 3; MICAL3 FLAVOPROTEIN OXIDOREDUCTASE MICAL3;; KIAA1364 Caret 608883 MOVED TO 137030 Asterisk 608884 RAL GTPase-ACTIVATING PROTEIN, ALPHA SUBUNIT 1; RALGAPA1 TUBERIN-LIKE PROTEIN 1; TULIP1;; GAP-RELATED INTERACTING PROTEIN TO E12; GRIPE;; KIAA0884;; GTPase-ACTIVATING RAP/RAN-GAP DOMAIN-LIKE 1; GARNL1 Number Sign 608885 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS;; CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY Asterisk 608886 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, BETA; PPARGC1B PPAR-GAMMA COACTIVATOR 1-BETA; PGC1B;; PGC1-BETA;; PGC1-RELATED ESTROGEN RECEPTOR COACTIVATOR; PERC;; ESTROGEN RECEPTOR-RELATED RECEPTOR LIGAND 1; ERRL1 Asterisk 608887 PURINE-RICH ELEMENT-BINDING PROTEIN B; PURB PUR-BETA Asterisk 608888 DEVELOPMENTALLY REGULATED RNA-BINDING PROTEIN 1 DRB1 Asterisk 608889 AMINOCARBOXYMUCONATE SEMIALDEHYDE DECARBOXYLASE; ACMSD Number Sign 608890 WAARDENBURG SYNDROME, TYPE 2D; WS2D WAARDENBURG SYNDROME, TYPE IID Asterisk 608891 ODD-SKIPPED-RELATED 1; OSR1 ODD-SKIPPED, DROSOPHILA, HOMOLOG OF; ODD Asterisk 608892 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7; CHD7 KIAA1416 Asterisk 608893 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 19; SLC6A19 SYSTEM B(0) NEUTRAL AMINO ACID TRANSPORTER 1 Asterisk 608894 ABELSON HELPER INTEGRATION SITE 1; AHI1 JOUBERIN Number Sign 608895 NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD MACULAR DEGENERATION, AGE-RELATED, 3, INCLUDED; ARMD3, INCLUDED Asterisk 608896 SARCOGLYCAN, GAMMA; SGCG DYSTROPHIN-ASSOCIATED GLYCOPROTEIN, 35-KD Asterisk 608897 UNC13, C. ELEGANS, HOMOLOG OF, D; UNC13D MUNC13-4 Number Sign 608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 HPLH3;; HLH3 Asterisk 608899 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, ALPHA GTF2IRD2A;; GTF2IRD2 Asterisk 608900 GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 2, BETA GTF2IRD2B Number Sign 608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 CHDS5;; CORONARY ARTERY DISEASE, EARLY-ONSET Number Sign 608902 DRUG METABOLISM, POOR, CYP2D6-RELATED DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED;; DEBRISOQUINE, POOR METABOLISM OF, INCLUDED;; DEBRISOQUINE, ULTRARAPID METABOLISM OF, INCLUDED;; SPARTEINE, POOR METABOLISM OF, INCLUDED;; NORTRIPTYLINE, POOR METABOLISM OF, INCLUDED;; CODEINE, ULTRARAPID METABOLISM OF, INCLUDED Percent 608903 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1 ADHD1 Percent 608904 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2 ADHD2 Percent 608905 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3 ADHD3 Percent 608906 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4 ADHD4 Number Sign 608907 ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9 ALZHEIMER DISEASE 9, LATE-ONSET Number Sign 608908 MYOPIA 6; MYP6 Asterisk 608909 ADP-RIBOSYLATION FACTOR-LIKE 5B; ARL5B ADP-RIBOSYLATION FACTOR-LIKE 8; ARL8 Asterisk 608910 CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 4; CTAGE4 Percent 608911 CHOANAL ATRESIA, POSTERIOR; PCA Asterisk 608912 POTE ANKYRIN DOMAIN FAMILY, MEMBER B; POTEB PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 15; POTE15 Asterisk 608913 POTE ANKYRIN DOMAIN FAMILY, MEMBER H; POTEH PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 22; POTE22;; ACTIN, BETA-LIKE, 1; ACTBL1 Asterisk 608914 POTE ANKYRIN DOMAIN FAMILY, MEMBER E; POTEE PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 1; POTE2;; POTE2-GAMMA Asterisk 608915 POTE ANKYRIN DOMAIN FAMILY, MEMBER A; POTEA PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 8; POTE8 Asterisk 608916 POTE ANKYRIN DOMAIN FAMILY, MEMBER G; POTEG PROSTATE-, OVARY-, TESTIS-, AND PLACENTA-EXPRESSED GENE ON CHROMOSOME 14; POTE14 Asterisk 608917 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 1; ATPAF1 ATP11, S. CEREVISIAE, HOMOLOG OF; ATP11 Asterisk 608918 ATP SYNTHASE, MITOCHONDRIAL F1 COMPLEX, ASSEMBLY FACTOR 2; ATPAF2 ATP12, S. CEREVISIAE, HOMOLOG OF; ATP12 Asterisk 608919 TWEETY, DROSOPHILA, HOMOLOG OF, 3; TTYH3 KIAA1691 Asterisk 608920 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 2; PITPNM2 PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 3; NIR3;; KIAA1457 Asterisk 608921 PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PITPNM3 PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1;; ATYPICAL CHEMOKINE RECEPTOR 6; ACKR6 Asterisk 608922 ADP-RIBOSYLATION FACTOR-LIKE 13B; ARL13B ARL2-LIKE PROTEIN 1; ARL2L1 Asterisk 608923 TRACE AMINE-ASSOCIATED RECEPTOR 6; TAAR6 TRACE AMINE RECEPTOR 4; TRAR4 Asterisk 608924 FORKHEAD BOX P4; FOXP4 Asterisk 608925 MULTIMERIN 2; MMRN2 ENDOGLYX1 Asterisk 608926 EMI DOMAIN-CONTAINING PROTEIN 1; EMID1 EMU1 Asterisk 608927 EMI DOMAIN-CONTAINING PROTEIN 2; EMID2 EMU2;; COLLAGEN, TYPE XXVI, ALPHA-1; COL26A1 Asterisk 608928 ELASTIN MICROFIBRIL INTERFACER 2; EMILIN2 Asterisk 608929 ELASTIN MICROFIBRIL INTERFACER 3; EMILIN3 Number Sign 608930 MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B Number Sign 608931 MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C MYASTHENIC SYNDROME, CONGENITAL, TYPE Id; CMS1D, FORMERLY;; CMS Id, FORMERLY;; MYASTHENIA, FAMILIAL INFANTILE, 1, FORMERLY; FIM1, FORMERLY Percent 608932 KERATOCONUS 2; KTCN2 Asterisk 608933 ENDONUCLEASE VIII-LIKE 2; NEIL2 NEI2 Asterisk 608934 ENDONUCLEASE VIII-LIKE 3; NEIL3 NEI3;; FGP2 Percent 608935 LUNG CANCER SUSCEPTIBILITY 1; LNCR1 Asterisk 608936 PROLINE-RICH LACRIMAL PROTEIN 1; PROL1 PRL1;; BASIC PROLINE-RICH LACRIMAL PROTEIN; BPLP OPIORPHIN, INCLUDED Asterisk 608937 SH2B ADAPTOR PROTEIN 1; SH2B1 SH2B, MOUSE, HOMOLOG OF; SH2B;; KIAA1299 Asterisk 608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1 S6K1;; p70 S6 KINASE, ALPHA;; p70(S6K)-ALPHA;; p70-ALPHA Asterisk 608939 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 2; RPS6KB2 S6K2;; p70 S6 KINASE, BETA;; p70(S6K)-BETA;; p70-BETA Number Sign 608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD Asterisk 608941 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-3; GNG3 Asterisk 608942 DYNEIN, LIGHT CHAIN, LC8 TYPE, 2; DYNLL2 DYNEIN LIGHT CHAIN 2; DLC2 Asterisk 608943 CYTOKINE-INDUCED APOPTOSIS INHIBITOR 1; CIAPIN1 ANAMORSIN Asterisk 608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1 CHROMOSOME 9 OPEN READING FRAME 154; C9ORF154 Asterisk 608945 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2; FREM2 Asterisk 608946 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 3 FREM3 Asterisk 608947 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13; KCTD13 POLYMERASE DELTA-INTERACTING PROTEIN 1; PDIP1; POLDIP1;; TNFAIP1-LIKE;; FKSG86 Asterisk 608948 ZIC FAMILY, MEMBER 4; ZIC4 ZINC FINGER PROTEIN OF CEREBELLUM 4 Asterisk 608949 GLYCOLIPID TRANSFER PROTEIN; GLTP Asterisk 608950 MAGI2 INTRONIC TRANSCRIPT; MAGI2IT PLATELET RECEPTOR FOR TYPE III COLLAGEN, 47-KD; PR47;; PLATELET MEMBRANE PROTEIN, 47-KD Asterisk 608951 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6; CNOT6 CCR4, S. CEREVISIAE, HOMOLOG OF; CCR4;; KIAA1194 Asterisk 608952 REPLICATION TIMING REGULATORY FACTOR 1; RIF1 RAP1-INTERACTING FACTOR 1, YEAST, HOMOLOG OF Asterisk 608953 TEKTIN 2; TEKT2 TEKTIN, TESTICULAR;; TEKTIN-T;; TEKTIN B1; TEKTB1 Asterisk 608954 MON1, S. CEREVISIAE, HOMOLOG OF, B; MON1B HSV-1 STIMULATION-RELATED GENE 1; HSRG1;; KIAA0872 Asterisk 608955 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 1; TTLL1 KIAA0173 Asterisk 608956 SOLUTE CARRIER FAMILY 46, MEMBER 2; SLC46A2 THYMIC STROMAL COTRANSPORTER; TSCOT Number Sign 608957 CD8 DEFICIENCY, FAMILIAL Asterisk 608958 ADENOSINE DEAMINASE; ADA ADENOSINE AMINOHYDROLASE Asterisk 608959 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 3; DPH3 DPH3, S. CEREVISIAE, HOMOLOG OF;; KTI11, S. CEREVISIAE, HOMOLOG OF; KTI11;; ZINC FINGER, CSL DOMAIN-CONTAINING 2; ZCSL2;; DEAFNESS LOCUS PUTATIVE GUANINE NUCLEOTIDE EXCHANGE FACTOR-INTERACTING PROTEIN 1; DELGIP1;; DELGEF-INTERACTING PROTEIN 1;; DESR1 Asterisk 608960 ADP-RIBOSYLATION FACTOR-LIKE 5A; ARL5A ADP-RIBOSYLATION FACTOR-LIKE 5; ARL5 Asterisk 608961 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 3; TRPM3 MELASTATIN 2; MLSN2;; LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 3; LTRPC3;; KIAA1616 Asterisk 608962 RHOMBOID-LIKE 2; RHBDL2 Asterisk 608963 NUCLEAR PROTEIN IN TESTIS NUT NUT/BRD4 FUSION GENE, INCLUDED Asterisk 608964 TATA BOX-BINDING PROTEIN-LIKE PROTEIN 2; TBPL2 TPB-RELATED FACTOR 3; TRF3 Asterisk 608965 CALCIUM-BINDING PROTEIN 4; CABP4 Asterisk 608966 DAPPER, ANTAGONIST OF BETA-CATENIN, 2; DACT2 DAPPER, XENOPUS, HOMOLOG OF, 2; DPR2;; DAPPER2 Caret 608967 MOVED TO 609192 Asterisk 608968 V-MAF MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE FAMILY, PROTEIN B; MAFB KRML, MOUSE, HOMOLOG OF; KRML Asterisk 608969 UTP14, S. CEREVISIAE, HOMOLOG OF, B UTP14B;; KIAA0266 Number Sign 608970 MACULAR DYSTROPHY, PATTERNED, 2; MDPT2 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2 Number Sign 608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE Asterisk 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 2; TORC2;; TRANSDUCER OF REGULATED CREB 2 Asterisk 608973 SALT-INDUCIBLE KINASE 2; SIK2 SALT-INDUCIBLE SERINE/THREONINE KINASE 2;; SNF1-LIKE KINASE 2; SNF1LK2;; KIAA0781 Asterisk 608974 COMPLEMENT COMPONENT C1r-LIKE PROTEIN; C1RL C1r-LIKE SERINE PROTEASE ANALOG; CLSPA;; C1r-LIKE PROTEIN; C1RLP Asterisk 608975 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, BETA; PARD6B PAR6-BETA Asterisk 608976 PARTITIONING-DEFECTIVE PROTEIN 6, C. ELEGANS, HOMOLOG OF, GAMMA; PARD6G PAR6-GAMMA Asterisk 608977 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 19; DNAJC19 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 14, YEAST, HOMOLOG OF; TIM14 Number Sign 608978 MEACHAM SYNDROME Asterisk 608979 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1M; PPM1M PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1M;; PROTEIN PHOSPHATASE 2C, ETA ISOFORM; PP2CE;; PP2C-ETA Number Sign 608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR Asterisk 608981 ACTIVIN A RECEPTOR, TYPE IC; ACVR1C ACTIVIN RECEPTOR-LIKE KINASE 7; ALK7 Percent 608982 STATURE QUANTITATIVE TRAIT LOCUS 5; STQTL5 Caret 608983 MOVED TO 115700 Number Sign 608984 ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 ADSA Asterisk 608985 RING FINGER PROTEIN 2; RNF2 RING2;; RING1B;; HUNTINGTIN-INTERACTING PROTEIN 2-INTERACTING PROTEIN 3; HIPI3;; HIP2-INTERACTING PROTEIN 3;; DING;; BAP1 Asterisk 608986 CREB-REGULATED TRANSCRIPTION COACTIVATOR 3; CRTC3 TRANSDUCER OF REGULATED cAMP RESPONSE ELEMENT-BINDING PROTEIN 3; TORC3;; TRANSDUCER OF REGULATED CREB 3 Asterisk 608987 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, ALPHA SUBUNIT, ISOFORM 3; P4HA3 PROLYL 4-HYDROXYLASE, ALPHA-3 SUBUNIT Percent 608988 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2 Asterisk 608989 RETINAL DEHYDROGENASE, EPIDERMAL, 2 RDHE2;; EPIDERMAL RETINAL DEHYDROGENASE 2 Asterisk 608990 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10; ADAMTS10 Asterisk 608991 MASTERMIND-LIKE 3; MAML3 MASTERMIND, DROSOPHILA, HOMOLOG OF, 2; MAM2;; KIAA1816 Asterisk 608992 B-CELL LYMPHOMA 6B; BCL6B BCL6-ASSOCIATED ZINC FINGER PROTEIN; BAZF Asterisk 608993 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3F; APOBEC3F Asterisk 608994 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 1A; ANKS1A ODIN;; KIAA0229 Percent 608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8 Number Sign 608996 PREMATURE OVARIAN FAILURE 3; POF3 Caret 608997 MOVED TO 300512 Asterisk 608998 EARP COMPLEX AND GARP COMPLEX INTERACTING PROTEIN 1; EIPR1 TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 1; TSSC1;; TUMOR-SUPPRESSING STF cDNA 1 Asterisk 608999 TUMOR-SUPPRESSING SUBTRANSFERABLE FRAGMENT CANDIDATE GENE 2; TSSC2 TUMOR-SUPPRESSING STF cDNA 2 Asterisk 609000 MONOOXYGENASE, DBH-LIKE, 1; MOXD1 MONOOXYGENASE X; MOX Asterisk 609001 PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, GAMMA; PIK3C2G Asterisk 609002 TEKTIN 1; TEKT1 Asterisk 609003 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 11; TTC11 FIS1, S. CEREVISIAE, HOMOLOG OF Asterisk 609004 B-CELL CLL/LYMPHOMA 9-LIKE; BCL9L BCL9-2 Asterisk 609005 WD REPEAT-CONTAINING PROTEIN 17; WDR17 Number Sign 609006 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT; DFNB36 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT, INCLUDED Asterisk 609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2 DARDARIN NULL 609008 MARFANOID HABITUS WITH SITUS INVERSUS Asterisk 609009 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, THETA ISOFORM; YWHAQ 14-3-3 PROTEIN, T-CELL;; 14-3-3-THETA;; 14-3-3-TAU;; HS1 Asterisk 609010 3-METHYLCROTONYL-CoA CARBOXYLASE 1; MCCC1 3-METHYLCROTONYL-CoA CARBOXYLASE, ALPHA; MCCA;; 3-METHYLCROTONYL-CoA CARBOXYLASE, BIOTIN-CONTAINING SUBUNIT Asterisk 609011 VASOHIBIN 1; VASH1 KIAA1036 Asterisk 609012 WD REPEAT-CONTAINING PROTEIN 5; WDR5 BMP2-INDUCED GENE, 3-KB; BIG3 Asterisk 609013 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4C1; SLCO4C1 ORGANIC ANION TRANSPORTER 4C1; OATP4C1 Asterisk 609014 3-METHYLCROTONYL-CoA CARBOXYLASE 2; MCCC2 3-METHYLCROTONYL-CoA CARBOXYLASE, BETA; MCCB;; 3-METHYLCROTONYL-CoA CARBOXYLASE, NON-BIOTIN-CONTAINING SUBUNIT Number Sign 609015 MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD TRIFUNCTIONAL PROTEIN DEFICIENCY TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED Number Sign 609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY LCHAD DEFICIENCY Asterisk 609017 ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP ERYTHROID MEMBRANE-ASSOCIATED PROTEIN;; ERYTHROCYTE MEMBRANE-ASSOCIATED PROTEIN Asterisk 609018 HOLOCARBOXYLASE SYNTHETASE; HLCS HCS Asterisk 609019 BIOTINIDASE; BTD Asterisk 609020 FOLATE HYDROLASE 1B; FOLH1B PROSTATE-SPECIFIC MEMBRANE ANTIGEN-LIKE; PSMAL;; PSMA-LIKE;; GLUTAMATE CARBOXYPEPTIDASE III; GCP3 Percent 609021 PERIPHERAL CONE DYSTROPHY Asterisk 609022 RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; RICTOR AVO3, S. CEREVISIAE, HOMOLOG OF; AVO3;; KIAA1999 Asterisk 609023 MYOFIBRILLOGENESIS REGULATOR 1 MR1;; PNKD;; TRANSACTIVATED BY HEPATITIS C VIRUS CORE PROTEIN 2; TAHCCP2;; BRAIN PROTEIN 17, MOUSE, HOMOLOG OF; BRP17;; KIAA1184 Asterisk 609024 KDEL ENDOPLASMIC RETICULUM PROTEIN RETENTION RECEPTOR 2; KDELR2 ERD2-LIKE PROTEIN 1; ELP1;; ERD2.2 Asterisk 609025 KERATIN 75, TYPE II; KRT75 K75;; KB18;; KERATIN 6, HAIR FOLLICLE; K6HF Percent 609026 CATARACT 28; CTRCT28 CATARACT, AGE-RELATED CORTICAL, 1; ARCC1 Number Sign 609027 BLOOD GROUP, INDIAN SYSTEM; IN INDIAN BLOOD GROUP SYSTEM; IN Asterisk 609028 TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN; TIFA TIFAA;; TRAF-INTERACTING PROTEIN WITH FHA DOMAIN;; TRAF2-BINDING PROTEIN; T2BP Number Sign 609029 EMANUEL SYNDROME SUPERNUMERARY DER(22)t(11;22) SYNDROME Asterisk 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8 Asterisk 609031 SERINE PROTEASE INHIBITOR-LIKE PROTEIN WITH KUNITZ AND WAP DOMAINS 1; SPINLW1 EPIDIDYMAL PROTEASE INHIBITOR; EPPIN;; WAP7 Asterisk 609032 FSHD REGION GENE 2; FRG2 FSHD GENE 2 Number Sign 609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1 PCARP Asterisk 609034 HAIRY/ENHANCER OF SPLIT-RELATED WITH YRPW MOTIF-LIKE PROTEIN; HEYL HEY-LIKE PROTEIN Asterisk 609035 RAS ASSOCIATION AND PLECKSTRIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; RAPH1 LAMELLIPODIN; LPD;; KIAA1681 Asterisk 609036 APBB1-INTERACTING PROTEIN; APBB1IP RAP1-INTERACTING ADAPTOR MOLECULE; RIAM;; RETINOIC ACID-RESPONSIVE PROLINE-RICH PROTEIN 1; RARP1 NULL 609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE Asterisk 609038 RHO FAMILY GTPase 1; RND1 RHO6 Percent 609039 NARCOLEPSY 3; NRCLP3 Number Sign 609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9; ARVC9 Percent 609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27 Asterisk 609042 OPSIN 5; OPN5 NEUROPSIN;; G PROTEIN-COUPLED RECEPTOR 136; GPR136;; PGR12 Asterisk 609043 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 4; RXFP4 RELAXIN 3 RECEPTOR 2; RLN3R2;; RLN3 RECEPTOR 2;; G PROTEIN-COUPLED RECEPTOR 100; GPR100;; G PROTEIN-COUPLED RECEPTOR 142; GPCR142 Asterisk 609044 FREE FATTY ACID RECEPTOR 4; FFAR4 G PROTEIN-COUPLED RECEPTOR 120; GPR120;; PGR4 Asterisk 609045 G PROTEIN-COUPLED RECEPTOR 141; GPR141 PGR13 Asterisk 609046 G PROTEIN-COUPLED RECEPTOR 142; GPR142 PGR2;; GPRG1B NULL 609047 SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA Number Sign 609048 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 Number Sign 609049 PIERSON SYNDROME MICROCORIA-CONGENITAL NEPHROTIC SYNDROME Asterisk 609050 METASTASIS-ASSOCIATED GENE 3; MTA3 KIAA1266 Asterisk 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8 TUMOR-UPREGULATED CARD-CONTAINING ANTAGONIST OF CASP9; TUCAN;; CARD INHIBITOR OF NFKB-ACTIVATING LIGANDS; CARDINAL;; NDPP1;; KIAA0955 Percent 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 Number Sign 609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI Number Sign 609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ Percent 609055 CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 Number Sign 609056 SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS AMISH INFANTILE EPILEPSY SYNDROME;; EPILEPSY SYNDROME, INFANTILE-ONSET SYMPTOMATIC;; GM3 SYNTHASE DEFICIENCY;; SALT AND PEPPER MENTAL RETARDATION SYNDROME Number Sign 609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS Asterisk 609058 METHYLMALONYL-CoA MUTASE; MUT MCM;; METHYLMALONYL-CoA ISOMERASE Asterisk 609059 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2; PNPLA2 ADIPOSE TRIGLYCERIDE LIPASE; ATGL;; DESNUTRIN;; TRANSPORT-SECRETION PROTEIN 2; TTS2;; TTS2.2;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, ZETA;; IPLA2-ZETA Number Sign 609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE Asterisk 609061 ENABLED, DROSOPHILA, HOMOLOG OF; ENAH ENA;; MAMMALIAN ENABLED; MENA;; NDPP1 Asterisk 609062 POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 2; POU6F2 RETINA-DERIVED POU-DOMAIN FACTOR 1; RPF1 Asterisk 609063 THIOREDOXIN 2; TXN2 TRX2;; THIOREDOXIN, MITOCHONDRIAL; MTRX Asterisk 609064 CARNOSINE DIPEPTIDASE 1; CNDP1 CARNOSINASE 1; CN1;; CARNOSINASE, SERUM Caret 609065 MOVED TO 605714 Asterisk 609066 AJUBA, MOUSE, HOMOLOG OF; JUB Asterisk 609067 SCLERAXIS, MOUSE, HOMOLOG OF, A; SCXA SCLERAXIS; SCX Asterisk 609068 DAN DOMAIN FAMILY, MEMBER 5; DAND5 CERBERUS, XENOPUS, HOMOLOG OF, 2; CER2;; CERBERUS-LIKE 2; CRL2; CERL2;; DANTE;; COCO Number Sign 609069 PANCREATIC AND CEREBELLAR AGENESIS; PACA DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS Number Sign 609070 HEMOGLOBIN, HIGH ALTITUDE ADAPTATION; HALAH HEMOGLOBIN, HIGH OXYGEN SATURATION OF Asterisk 609071 F-BOX AND WD40 DOMAIN PROTEIN 2; FBXW2 FBW2; FWD2 Asterisk 609072 F-BOX AND WD40 DOMAIN PROTEIN 5; FBXW5 FBW5 Asterisk 609073 F-BOX AND WD40 DOMAIN PROTEIN 8; FBXW8 FBW8;; FBXW6; FBW6;; FBXO29; FBX29 Asterisk 609074 F-BOX AND WD40 DOMAIN PROTEIN 9; FBXW9 FBW9 Asterisk 609075 F-BOX AND WD40 DOMAIN PROTEIN 12; FBXW12 FBW12;; FBXO35;; FBXO12 Asterisk 609076 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 6; FBXL6 FBL6;; FBL6A Asterisk 609077 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 8; FBXL8 FBL8 Asterisk 609078 LYSINE-SPECIFIC DEMETHYLASE 2B; KDM2B F-BOX AND LEUCINE-RICH REPEAT PROTEIN 10; FBXL10;; FBL10;; CXXC FINGER PROTEIN 2; CXXC2;; JUMONJI C DOMAIN-CONTAINING HISTONE DEMETHYLASE 1B; JHDM1B Asterisk 609079 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 12; FBXL12 FBL12 Asterisk 609080 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 13; FBXL13 FBL13 Asterisk 609081 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 14; FBXL14 FBL14 Asterisk 609082 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 16; FBXL16 FBL16;; CHROMOSOME 16 OPEN READING FRAME 22; C16ORF22 Asterisk 609083 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 17; FBXL17 FBL17;; FBXO13; FBX13 Asterisk 609084 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 18; FBXL18 FBL18 Asterisk 609085 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 19; FBXL19 FBL19 Asterisk 609086 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 20; FBXL20 FBL20;; FBL2;; SCRAPPER; SCR Asterisk 609087 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 21; FBXL21 FBL21;; FBXL3B; FBL3B Asterisk 609088 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 22; FBXL22 FBL22 Asterisk 609089 F-BOX ONLY PROTEIN 3; FBXO3 FBX3;; FBA Asterisk 609090 F-BOX ONLY PROTEIN 4; FBXO4 FBX4 Asterisk 609091 F-BOX ONLY PROTEIN 9; FBXO9 FBX9;; NY-REN-57 Asterisk 609092 F-BOX ONLY PROTEIN 10; FBXO10 FBX10;; PROTEIN ARGININE METHYLTRANSFERASE 11; PRMT11 Asterisk 609093 F-BOX ONLY PROTEIN 15; FBXO15 FBX15 Asterisk 609094 F-BOX ONLY PROTEIN 17; FBXO17 FBX17;; FBXO26; FBX26;; FBG4 Asterisk 609095 F-BOX ONLY PROTEIN 21; FBXO21 FBX21;; KIAA0875 Asterisk 609096 F-BOX ONLY PROTEIN 22; FBXO22 FBX22 Asterisk 609097 F-BOX ONLY PROTEIN 24; FBXO24 FBX24 Asterisk 609098 F-BOX ONLY PROTEIN 25; FBXO25 FBX25 Asterisk 609099 F-BOX ONLY PROTEIN 27; FBXO27 FBX27;; FBG5 Asterisk 609100 F-BOX ONLY PROTEIN 28; FBXO28 FBX28;; KIAA0483 Asterisk 609101 F-BOX ONLY PROTEIN 30; FBXO30 FBX30 Asterisk 609102 F-BOX ONLY PROTEIN 31; FBXO31 FBX31;; FBXO14; FBX14 Asterisk 609103 F-BOX ONLY PROTEIN 33; FBXO33 FBX33 Asterisk 609104 F-BOX ONLY PROTEIN 34; FBXO34 FBX34 Asterisk 609105 F-BOX ONLY PROTEIN 36; FBXO36 FBX36 Asterisk 609106 F-BOX ONLY PROTEIN 39; FBXO39 FBX39 Asterisk 609107 F-BOX ONLY PROTEIN 40; FBXO40 FBX40;; KIAA1195 Asterisk 609108 F-BOX ONLY PROTEIN 41; FBXO41 FBX41;; KIAA1940 Asterisk 609109 F-BOX ONLY PROTEIN 42; FBXO42 FBX42;; KIAA1332;; JUST 1 F-BOX- AND KELCH DOMAIN-CONTAINING PROTEIN; JFK Asterisk 609110 F-BOX ONLY PROTEIN 43; FBXO43 FBX43;; ENDOGENOUS MEIOTIC INHIBITOR 2, XENOPUS, HOMOLOG OF; EMI2;; ERP1, XENOPUS, HOMOLOG OF; ERP1 Asterisk 609111 F-BOX ONLY PROTEIN 44; FBXO44 FBX44;; FBX6A;; FBG3 Asterisk 609112 F-BOX ONLY PROTEIN 45; FBXO45 FBX45 Percent 609113 TELOMERE LENGTH, MEAN LEUKOCYTE; LTL TELM Asterisk 609114 DESTRIN; DSTN ACTIN DEPOLYMERIZING FACTOR; ADF Number Sign 609115 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3; LGMDD3 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G; LGMD1G Percent 609116 RESPIRATORY RHYTHMICITY IN SLEEP RRIS Asterisk 609117 F-BOX ONLY PROTEIN 46; FBXO46 FBX46 Asterisk 609118 PROGRAMMED CELL DEATH 10; PDCD10 CCM3 GENE;; TFAR15 Asterisk 609119 THAP DOMAIN-CONTAINING PROTEIN 11; THAP11 RONIN Asterisk 609120 CATION CHANNEL, SPERM-ASSOCIATED, 3; CATSPER3 Asterisk 609121 CATION CHANNEL, SPERM-ASSOCIATED, 4; CATSPER4 Percent 609122 ANEURYSM, INTRACRANIAL BERRY, 3; ANIB3 Asterisk 609123 ATPase, CLASS I, TYPE 8B, MEMBER 4; ATP8B4 KIAA1939 Asterisk 609124 ZINC FINGER PROTEIN 385A; ZNF385A ZINC FINGER PROTEIN 385; ZNF385;; RETINAL ZINC FINGER PROTEIN; RZF;; HEMATOPOIETIC ZINC FINGER PROTEIN; HZF Asterisk 609125 MOTILE SPERM DOMAIN-CONTAINING PROTEIN 3; MOSPD3 Asterisk 609126 ATPase, CLASS II, TYPE 9A; ATP9A ATPase IIA; ATPIIA;; KIAA0611 Caret 609127 MOVED TO 300516 Percent 609128 ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4 ARTHROGRYPOSIS WITH SEVERE SCOLIOSIS;; ARTHROGRYPOSIS, DISTAL, TYPE IID; DAIID Number Sign 609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT; NSDAN Asterisk 609130 APOPTOSIS-INDUCING, TAF9-LIKE DOMAIN 1; APITD1 CENTROMERIC PROTEIN S; CENPS;; FANCM-INTERACTING HISTONE-FOLD PROTEIN 1; MHF1 Asterisk 609131 CLAUDIN 7; CLDN7 Asterisk 609132 LYSINE-SPECIFIC DEMETHYLASE 1A; KDM1A LYSINE-SPECIFIC DEMETHYLASE 1; LSD1;; AMINE OXIDASE, FLAVIN-CONTAINING, 2; AOF2;; BRAF35/HDAC COMPLEX, 110-KD SUBUNIT; BHC110;; KIAA0601 Asterisk 609133 FLT3-INTERACTING ZINC FINGER PROTEIN 1; FIZ1 FLJ14768 Asterisk 609134 UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 2; UBR2 CHROMOSOME 6 OPEN READING FRAME 133; C6ORF133;; KIAA0349 Number Sign 609135 APLASTIC ANEMIA APLASTIC ANEMIA, SUSCEPTIBILITY TO, INCLUDED Number Sign 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT Asterisk 609137 RECEPTOR-TRANSPORTING PROTEIN 1; RTP1 Asterisk 609138 RECEPTOR-TRANSPORTING PROTEIN 2; RTP2 Asterisk 609139 RECEPTOR EXPRESSION-ENHANCING PROTEIN 1; REEP1 CHROMOSOME 2 OPEN READING FRAME 23; C2ORF23 Number Sign 609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2 Number Sign 609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3 Asterisk 609142 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 3; CEACAM3 CGM1;; CD66D Caret 609143 MOVED TO 607278 Asterisk 609144 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR 1; FLVCR1 FLVCR Asterisk 609145 NEUROFASCIN; NFASC KIAA0756 Asterisk 609146 RIC8, C. ELEGANS, HOMOLOG OF, A; RIC8A SYNEMBRYN, C. ELEGANS, HOMOLOG OF, A Asterisk 609147 RIC8, C. ELEGANS, HOMOLOG OF, B; RIC8B SYNEMBRYN, C. ELEGANS, HOMOLOG OF, B Number Sign 609148 MALARIA, MILD, SUSCEPTIBILITY TO MALS Asterisk 609149 SOLUTE CARRIER FAMILY 29 (MONOAMINE TRANSPORTER), MEMBER 4; SLC29A4 PLASMA MEMBRANE MONOAMINE TRANSPORTER; PMAT;; EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 4; ENT4 Asterisk 609150 CXXC FINGER PROTEIN 1; CXXC1 CpG-BINDING PROTEIN; CGBP;; PROTEIN CONTAINING CXXC DOMAIN 1; PCCX1 Asterisk 609151 UBX DOMAIN PROTEIN 11; UBXN11 SOCIUS; SOC Number Sign 609152 HYPERTHYROIDISM, NONAUTOIMMUNE HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE;; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT;; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT Number Sign 609153 PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK; PSHK2 PSEUDOHYPERKALEMIA LILLE;; PSEUDOHYPERKALEMIA FALKIRK;; PSEUDOHYPERKALEMIA CHISWICK;; PSEUDOHYPERKALEMIA CARDIFF;; PSEUDOHYPERKALEMIA EAST LONDON;; CRYOHYDROCYTOSIS, MILD Asterisk 609154 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 3; ASCL3 HUMAN ACHAETE-SCUTE HOMOLOG 3; HASH3;; SGN1 Asterisk 609155 ACHAETE-SCUTE COMPLEX, DROSOPHILA, HOMOLOG OF, 4; ASCL4 HUMAN ACHAETE-SCUTE HOMOLOG 4; HASH4 Asterisk 609156 NICALIN, ZEBRAFISH, HOMOLOG OF; NCLN Asterisk 609157 NODAL MODULATOR 1; NOMO1 PM5, TELOMERIC COPY Asterisk 609158 NODAL MODULATOR 2; NOMO2 PM5, CENTROMERIC COPY Asterisk 609159 NODAL MODULATOR 3; NOMO3 PM5, MIDDLE COPY Caret 609160 MOVED TO 601419 Number Sign 609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1; ADSD1 Number Sign 609162 CZECH DYSPLASIA CZECH DYSPLASIA, METATARSAL TYPE;; PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES;; SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS Asterisk 609163 HYDROXYCARBOXYLIC ACID RECEPTOR 2; HCAR2 HCA2;; G PROTEIN-COUPLED RECEPTOR 109A; GPR109A;; NIACIN RECEPTOR 1; NIACR1;; HM74A;; HM74B;; PROTEIN UPREGULATED IN MACROPHAGES BY IFNG, MOUSE, HOMOLOG OF; PUMAG Percent 609164 UMBILICUS, FAMILIAL FLAT FLAT UMBILICUS, AUTOSOMAL DOMINANT Number Sign 609165 ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE ICHTHYOSIS WITH CONFETTI; IWC;; ICHTHYOSIS VARIEGATA ERYTHROKERATODERMA, RETICULAR, INCLUDED;; AARAU DISEASE, INCLUDED Percent 609166 BRANCHIOGENIC-DEAFNESS SYNDROME Caret 609167 MOVED TO 604379 Asterisk 609168 SHUGOSHIN-LIKE 1; SGOL1 SGO; SGO1 Asterisk 609169 GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, SPERMATOGENIC; GAPDHS GAPDS;; GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, TESTIS-SPECIFIC;; GAPD2 Asterisk 609170 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 4; TXNDC4 ENDOPLASMIC RETICULUM RESIDENT PROTEIN, 44-KD; ERp44;; KIAA0573 Asterisk 609171 CDC42 EFFECTOR PROTEIN 5; CDC42EP5 CEP5;; BINDER OF RHO GTPases 3; BORG3 Asterisk 609172 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16A; PPP1R16A MYOSIN PHOSPHATASE TARGET SUBUNIT 3; MYPT3 Asterisk 609173 KINETOCHORE SCAFFOLD 1; KNL1 CASC5 GENE; CASC5;; ALL1-FUSED GENE FROM CHROMOSOME 15q14; AF15Q14;; KIAA1570;; D40 AF15Q14/ALL1 FUSION GENE, INCLUDED Asterisk 609174 NSL1, MIS12 KINETOCHORE COMPLEX COMPONENT; NSL1 DC8;; CHROMOSOME 1 OPEN READING FRAME 48; C1ORF48 Asterisk 609175 DSN1, MIS12 KINETOCHORE COMPLEX COMPONENT; DSN1 DSN1, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 20 OPEN READING FRAME 172; C20ORF172 Asterisk 609176 POLYAMINE-MODULATED FACTOR 1; PMF1 Asterisk 609177 ZW10 INTERACTOR; ZWINT ZWINT1 Asterisk 609178 MIS12, S. POMBE, HOMOLOG OF; MIS12 Percent 609179 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7 MGR7 Number Sign 609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F CDG If; CDGIf Asterisk 609181 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 4; DYRK4 Asterisk 609182 SOLUTE CARRIER FAMILY 35, MEMBER D2; SLC35D2 FRINGE CONNECTION, DROSOPHILA, HOMOLOG OF, 1; HFRC1;; SQV7-LIKE PROTEIN; SQV7L;; UGTREL8 Asterisk 609183 AURORA KINASE A-INTERACTING PROTEIN AURKA-INTERACTING PROTEIN; AIP Asterisk 609184 KINESIN FAMILY MEMBER 4B; KIF4B Asterisk 609185 ZINC FINGER AND HOMEODOMAIN PROTEIN 2; ZHX2 ALPHA-FETOPROTEIN REGULATOR 1, MOUSE, HOMOLOG OF; AFR1;; AFP REGULATOR 1, MOUSE, HOMOLOG OF;; REGULATOR OF AFP, MOUSE, HOMOLOG OF; RAF;; KIAA0854 Asterisk 609186 D-2-HYDROXYGLUTARATE DEHYDROGENASE; D2HGDH D2HGD Asterisk 609187 SUCCINYL-CoA:GLUTARATE-CoA TRANSFERASE; SUGCT CHROMOSOME 7 OPEN READING FRAME 10; C7ORF10 Asterisk 609188 M-PHASE-SPECIFIC PLK1-INTERACTING PROTEIN; MPLKIP CHROMOSOME 7 OPEN READING FRAME 11; C7ORF11;; TTDN1 GENE; TTDN1 Asterisk 609189 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, A; ASF1A CCG1-INTERACTING FACTOR A; CIA Asterisk 609190 ANTI-SILENCING FUNCTION 1, S. CEREVISIAE, HOMOLOG OF, B; ASF1B Asterisk 609191 PROTEIN KINASE A-INTERACTING PROTEIN 1; AKIP1 PKA-INTERACTING PROTEIN 1;; BREAST CANCER-ASSOCIATED GENE 3; BCA3;; CHROMOSOME 11 OPEN READING FRAME 17; C11ORF17 Number Sign 609192 LOEYS-DIETZ SYNDROME 1; LDS1 FURLONG SYNDROME;; LOEYS-DIETZ AORTIC ANEURYSM SYNDROME;; AORTIC ANEURYSM, FAMILIAL THORACIC 5; AAT5 Asterisk 609193 PEPTIDYL-PROLYL ISOMERASE-LIKE 5; PPIL5 LEUCINE-RICH REPEAT PROTEIN 1; LRR1 Asterisk 609194 CDK5 AND ABL ENZYME SUBSTRATE 1; CABLES1 CABLES;; INTERACTOR WITH CDK3 1;; IK3-1 Number Sign 609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 Asterisk 609196 MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN; MRAP FAT TISSUE-SPECIFIC LOW MOLECULAR WEIGHT PROTEIN; FALP;; CHROMOSOME 21 OPEN READING FRAME 61; C21ORF61 Percent 609197 GLUCOCORTICOID DEFICIENCY 3; GCCD3 FAMILIAL GLUCOCORTICOID DEFICIENCY 3; FGD3;; GLUCOCORTICOID DEFICIENCY 2, FORMERLY; GCCD2, FORMERLY Asterisk 609198 ADAMTS-LIKE PROTEIN 1; ADAMTSL1 PUNCTIN;; PUNCTIN 1 Asterisk 609199 ADAMTS-LIKE PROTEIN 3; ADAMTSL3 PUNCTIN 2;; KIAA1233 Number Sign 609200 MYOPATHY, MYOFIBRILLAR, 3; MFM3 MYOTILINOPATHY;; MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1, FORMERLY; LGMD1, FORMERLY;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, FORMERLY; LGMD1A, FORMERLY Asterisk 609201 UBIQUITIN-ASSOCIATED AND SH3 DOMAIN-CONTAINING PROTEIN B; UBASH3B SUPPRESSOR OF T-CELL RECEPTOR SIGNALING 1; STS1;; p70;; T-CELL UBIQUITIN LIGAND 2; TULA2;; KIAA1959 Asterisk 609202 SECRETAGOGIN; SCGN Asterisk 609203 CLAUDIN 23; CLDN23 Asterisk 609204 MITOCHONDRIAL RIBOSOMAL PROTEIN S16: MRPS16 Asterisk 609205 DAB2-INTERACTING PROTEIN; DAB2IP ASK1-INTERACTING PROTEIN; AIP1;; KIAA1743 Asterisk 609206 EUKARYOTIC TRANSLATION ELONGATION FACTOR 1, EPSILON-1; EEF1E1 ELONGATION FACTOR p18;; AMINOACYL-tRNA SYNTHETASE-INTERACTING MULTIFUNCTIONAL PROTEIN 3; AIMP3 Asterisk 609207 MELANOREGULIN; MREG DILUTE SUPPRESSOR, MOUSE, HOMOLOG OF;; DSU, MOUSE, HOMOLOG OF; DSU Asterisk 609208 KAZAL-TYPE PROTEASE INHIBITOR DOMAIN-CONTAINING PROTEIN 1; KAZALD1 BONE- AND ODONTOBLAST-EXPRESSED GENE 1; BONO1;; IGFBP-RELATED PROTEIN 10; IGFBPRP10 Asterisk 609209 INFLUENZA VIRUS NS1A PROTEIN-BINDING PROTEIN; IVNS1ABP NS1-BINDING PROTEIN; NS1BP;; NCX DOWNSTREAM GENE 1; ND1;; KIAA0850 Asterisk 609210 CLAUDIN 18; CLDN18 Asterisk 609211 MYOSIN, LIGHT CHAIN 12B, REGULATORY; MYL12B MYOSIN REGULATORY LIGHT CHAIN 2; MRLC2 Asterisk 609212 ASPARAGINASE-LIKE PROTEIN 1; ASRGL1 ALP;; ASPARAGINASE 3;; ASNase3 Asterisk 609213 SEC61 TRANSLOCON, ALPHA-1 SUBUNIT; SEC61A1 SEC61 COMPLEX, ALPHA-1 SUBUNIT;; SEC61A;; SEC61, S. CEREVISIAE, HOMOLOG OF; SEC61 Asterisk 609214 SEC61 TRANSLOCON, BETA SUBUNIT; SEC61B SEC61 COMPLEX, BETA SUBUNIT Asterisk 609215 SEC61 TRANSLOCON, GAMMA SUBUNIT; SEC61G SEC61 COMPLEX, GAMMA SUBUNIT Asterisk 609216 SPIRE, DROSOPHILA, HOMOLOG OF, 1; SPIRE1 SPIR1;; KIAA1135 Asterisk 609217 SPIRE, DROSOPHILA, HOMOLOG OF, 2; SPIRE2 SPIR2;; KIAA1832 Number Sign 609218 FOVEAL HYPOPLASIA 2; FVH2 FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS;; FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM; FHONDA Asterisk 609219 NUDIX HYDROLASE 14; NUDT14 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 14;; NUDIX MOTIF 14;; URIDINE DIPHOSPHATE GLUCOSE PYROPHOSPHATASE; UGPP;; UDPG PYROPHOSPHATASE;; UGPPase Number Sign 609220 BRUCK SYNDROME 2; BRKS2 OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES Asterisk 609221 N-ACETYLTRANSFERASE 10; NAT10 N-ACETYLTRANSFERASE-LIKE PROTEIN; ALP;; KRE33, YEAST, HOMOLOG OF;; RIBOSOMAL RNA CYTIDINE ACETYLTRANSFERASE 1; RRA1;; KIAA1709 Percent 609222 DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC Percent 609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE Asterisk 609224 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 1; WIPI1 WIPI, 49-KD; WIPI49 Asterisk 609225 WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 2; WIPI2 Asterisk 609226 WD REPEAT-CONTAINING PROTEIN 45B; WDR45B WD REPEAT-CONTAINING PROTEIN 45-LIKE; WDR45L;; WD40 REPEAT PROTEIN INTERACTING WITH PHOSPHOINOSITIDES 3; WIPI3 Number Sign 609227 GRISCELLI SYNDROME, TYPE 3; GS3 Asterisk 609228 NUDIX HYDROLASE 3; NUDT3 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 3;; NUDIX MOTIF 3;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE; DIPP;; DIPP1 Asterisk 609229 NUDIX HYDROLASE 4; NUDT4 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 4;; NUDIX MOTIF 4;; DIPHOSPHOINOSITOL POLYPHOSPHATE PHOSPHOHYDROLASE 2; DIPP2;; KIAA0487 Asterisk 609230 NUDIX HYDROLASE 5; NUDT5 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 5;; NUDIX MOTIF 5;; YSA1, S. CEREVISIAE, HOMOLOG OF; YSA1; YSA1H Asterisk 609231 NUDIX HYDROLASE 7; NUDT7 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 7;; NUDIX MOTIF 7 Asterisk 609232 NUDIX HYDROLASE 12; NUDT12 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 12;; NUDIX MOTIF 12 Asterisk 609233 NUDIX HYDROLASE 13; NUDT13 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 13;; NUDIX MOTIF 13 Asterisk 609234 EUKARYOTIC TRANSLATION INITIATION FACTOR 2A; EIF2A Asterisk 609235 BR SERINE/THREONINE KINASE 1; BRSK1 KIAA1811 Asterisk 609236 BR SERINE/THREONINE KINASE 2; BRSK2 SAD1, C. ELEGANS, HOMOLOG OF; SAD1;; PEN11B Asterisk 609237 IQ MOTIF-CONTAINING PROTEIN B1; IQCB1 NEPHROCYSTIN 5; NPHP5;; p53- AND DNA DAMAGE-REGULATED IQ MOTIF PROTEIN; PIQ;; KIAA0036 Asterisk 609238 RAB GTPase-ACTIVATING PROTEIN 1-LIKE; RABGAP1L TBC1 DOMAIN FAMILY, MEMBER 18; TBC1D18;; KIAA0471 Asterisk 609239 LYSOPHOSPHATIDIC ACID RECEPTOR 6; LPAR6 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 5; P2RY5;; P2RY5 Asterisk 609240 GERM CELL-SPECIFIC GENE 2; GSG2 HAPLOID GERM CELL-SPECIFIC NUCLEAR PROTEIN KINASE; HASPIN Number Sign 609241 SCHINDLER DISEASE, TYPE I NEUROAXONAL DYSTROPHY, SCHINDLER TYPE;; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I;; NAGA DEFICIENCY, TYPE I ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED;; NAGA DEFICIENCY, TYPE III, INCLUDED;; SCHINDLER DISEASE, TYPE III, INCLUDED Number Sign 609242 KANZAKI DISEASE ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II;; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, ADULT-ONSET;; NAGA DEFICIENCY, TYPE II;; SCHINDLER DISEASE, TYPE II Asterisk 609243 RETINOIC ACID EARLY TRANSCRIPT 1E; RAET1E LYMPHOCYTE EFFECTOR CELL TOXICITY-ACTIVATING LIGAND; LETAL;; UL16-BINDING PROTEIN 4; ULBP4 Asterisk 609244 RETINOIC ACID EARLY TRANSCRIPT 1G; RAET1G Asterisk 609245 G PROTEIN SIGNALING MODULATOR 2; GPSM2 LEU-GLY-ASN REPEAT-ENRICHED PROTEIN; LGN;; TRANSDUCIN-BINDING PARTNER, ROD-SPECIFIC;; PINS, DROSOPHILA, HOMOLOG OF Asterisk 609246 PYRIDOXAL PHOSPHATASE; PDXP PLP PHOSPHATASE;; CHRONOPHIN; CIN PDXP/SH3BP1 FUSION GENE, INCLUDED Asterisk 609247 RING FINGER PROTEIN 13; RNF13 Asterisk 609248 HECT DOMAIN AND RCC1-LIKE DOMAIN 4; HERC4 KIAA1593 Asterisk 609249 HECT DOMAIN AND RCC1-LIKE DOMAIN 6; HERC6 NULL 609250 HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE MARIE UNNA-LIKE SCALP HYPOTRICHOSIS Asterisk 609251 Fc RECEPTOR-LIKE PROTEIN B; FCRLB Fc RECEPTOR-LIKE PROTEIN 2; FCRL2;; Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS 2; FREB2;; FCRY Asterisk 609252 LIPASE I; LIPI LPD LIPASE; LPDL;; PRED5 Percent 609253 FEBRILE SEIZURES, FAMILIAL, 6; FEB6 CONVULSIONS, FAMILIAL FEBRILE, 6 Number Sign 609254 SENIOR-LOKEN SYNDROME 5; SLSN5 Percent 609255 FEBRILE SEIZURES, FAMILIAL, 5; FEB5 CONVULSIONS, FAMILIAL FEBRILE, 5 Percent 609256 MYOPIA 7; MYP7 Percent 609257 MYOPIA 8; MYP8 Percent 609258 MYOPIA 9; MYP9 Percent 609259 MYOPIA 10; MYP10 Number Sign 609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2;; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2;; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2; HMSN2A2;; HMSN IIA2 Percent 609261 STUTTERING, FAMILIAL PERSISTENT, 2; STUT2 Asterisk 609262 CEREBLON; CRBN Asterisk 609263 SEH1-LIKE PROTEIN; SEH1L SEH1, YEAST, HOMOLOG OF; SEH1;; SEC13-LIKE PROTEIN; SEC13L Asterisk 609264 NUCLEOPORIN, 37-KD; NUP37 p37 Number Sign 609265 LI-FRAUMENI SYNDROME 2; LFS2 Caret 609266 MOVED TO 151623 Asterisk 609267 MELANOMA ANTIGEN, FAMILY F, 1; MAGEF1 Asterisk 609268 SPLICING REGULATORY PROTEIN, GLUTAMINE/LYSINE-RICH, 1; SREK1 SPLICING FACTOR, ARGININE/SERINE-RICH, 12; SFRS12;; SR-RELATED PROTEIN, 86-KD; SRRp86;; SRRp508 Asterisk 609269 KIAA0319 GENE; KIAA0319 Number Sign 609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 Percent 609271 KERATOCONUS 4; KTCN4 Asterisk 609272 TRYPTASE, DELTA-1; TPSD1 TRYPTASE, DELTA;; MAST CELL PROTEASE 7-LIKE;; MCP7-LIKE Number Sign 609273 NEMALINE MYOPATHY 6; NEM6 Asterisk 609274 NASCENT POLYPEPTIDE-ASSOCIATED COMPLEX, ALPHA POLYPEPTIDE, 2 Asterisk 609275 RAB3 GTPase-ACTIVATING PROTEIN, NONCATALYTIC SUBUNIT; RAB3GAP2 RAB3GAP, 150-KD SUBUNIT; RAB3GAP150;; p150;; KIAA0839 Asterisk 609276 NON-SMC CONDENSIN II COMPLEX SUBUNIT D3; NCAPD3 CONDENSIN II COMPLEX, NON-SMC SUBUNIT D3;; CHROMOSOME-ASSOCIATED PROTEIN D3; CAPD3;; KIAA0056 Asterisk 609277 MOLYBDENUM COFACTOR SYNTHESIS 3; MOCS3 Asterisk 609278 IZUMO SPERM-EGG FUSION PROTEIN 1; IZUMO1 SPERM-SPECIFIC PROTEIN IZUMO;; MGC34799 Asterisk 609279 CENTROMERIC PROTEIN J; CENPJ CENTROSOMAL P4.1-ASSOCIATED PROTEIN; CPAP Asterisk 609280 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 4; EIF2AK4 GENERAL CONTROL NONDEREPRESSIBLE 2; GCN2;; KIAA1338 Asterisk 609281 MOB1-LIKE PROTEIN 1B; MOBKL1B MATS, DROSOPHILA, HOMOLOG OF, 1; MATS1 Asterisk 609282 MOB1-LIKE PROTEIN 1A; MOBKL1A MATS, DROSOPHILA, HOMOLOG OF, 2; MATS2 Number Sign 609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 Number Sign 609284 NEMALINE MYOPATHY 1; NEM1 CAP MYOPATHY 1, INCLUDED; CAPM1, INCLUDED Number Sign 609285 NEMALINE MYOPATHY 4; NEM4 CAP MYOPATHY 2, INCLUDED; CAPM2, INCLUDED Number Sign 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 Asterisk 609287 SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B1; SH3GLB1 ENDOPHILIN B1;; BAX-INTERACTING FACTOR 1; BIF1;; KIAA0491 Asterisk 609288 SH3 DOMAIN, GRB2-LIKE, ENDOPHILIN B2; SH3GLB2 ENDOPHILIN B2;; KIAA1848 Percent 609289 SYNCOPE, FAMILIAL VASOVAGAL; VVS SYNCOPE, FAMILIAL NEUROCARDIOGENIC Asterisk 609290 ADENYLATE KINASE 3; AK3 ADENYLATE KINASE 3-LIKE 1, FORMERLY; AK3L1, FORMERLY Asterisk 609291 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1 Asterisk 609292 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 2; SPRED2 Asterisk 609293 SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 3; SPRED3 Asterisk 609294 SEMAPHORIN 6C; SEMA6C KIAA1869 Asterisk 609295 SEMAPHORIN 6D; SEMA6D KIAA1479 Percent 609296 B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS BILU SYNDROME;; HOFFMAN SYNDROME Asterisk 609297 SEMAPHORIN 5A; SEMA5A SEMAPHORIN F; SEMAF; SEMF Asterisk 609298 SEMAPHORIN 5B; SEMA5B SEMAPHORIN G; SEMAG; SEMG;; KIAA1445 Percent 609299 PROSTATE CANCER, HEREDITARY, 5; HPC5 Asterisk 609300 CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; CYP17A1 STEROID 17-ALPHA-MONOOXYGENASE;; CYTOCHROME P450, SUBFAMILY XVII;; CYP17;; P450C17;; S17AH;; STEROID 17-HYDROXYLASE/17,20-LYASE Asterisk 609301 p53 EFFECTOR RELATED TO PMP22; PERP THW Asterisk 609302 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 22; SLC25A22 GLUTAMATE CARRIER 1; GC1 Asterisk 609303 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 18; SLC25A18 GLUTAMATE CARRIER 2; GC2 Number Sign 609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3 Asterisk 609305 LATEXIN; LXN ENDOGENOUS CARBOXYPEPTIDASE INHIBITOR; ECI;; TISSUE CARBOXYPEPTIDASE INHIBITOR; TCI Number Sign 609306 SPINOCEREBELLAR ATAXIA 26; SCA26 Number Sign 609307 SPINOCEREBELLAR ATAXIA 27; SCA27 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, FGF14-RELATED Number Sign 609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 11; LGMDR11;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K Asterisk 609309 MutS, E. COLI, HOMOLOG OF, 2; MSH2 Number Sign 609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; FCC2;; COCA2 Number Sign 609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H;; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H Asterisk 609312 DOPAMINE BETA-HYDROXYLASE, PLASMA; DBH DOPAMINE BETA-MONOOXYGENASE Number Sign 609313 MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK ERYTHROKERATODERMIA VARIABILIS 3; EKV3;; ERYTHROKERATODERMIA VARIABILIS, KAMOURASKA TYPE Asterisk 609314 RADIAL SPOKE HEAD 1, CHLAMYDOMONAS, HOMOLOG OF; RSPH1 TSA2;; MALE MEIOTIC METAPHASE CHROMOSOME-ASSOCIATED ACIDIC PROTEIN; MEICHROACIDIN;; TESTIS-SPECIFIC PROTEIN 2; TSGA2 Asterisk 609315 TRIPARTITE MOTIF-CONTAINING PROTEIN 7; TRIM7 GLYCOGEN-INTERACTING PROTEIN; GNIP Asterisk 609316 TRIPARTITE MOTIF-CONTAINING PROTEIN 31; TRIM31 HCGI Asterisk 609317 TRIPARTITE MOTIF-CONTAINING PROTEIN 36; TRIM36 RBCC728 Asterisk 609318 TRIPARTITE MOTIF-CONTAINING PROTEIN 45; TRIM45 Percent 609319 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HCHGQ1 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6 Percent 609320 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HCHGQ2 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 9 Asterisk 609321 SAS6 CENTRIOLAR ASSEMBLY PROTEIN; SASS6 SAS6, C. ELEGANS, HOMOLOG OF; SAS6 Number Sign 609322 RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED;; RHABDOID TUMOR, INCLUDED; RDT, INCLUDED;; TERATOID TUMOR, ATYPICAL, INCLUDED;; AT/RT, INCLUDED Asterisk 609323 OLIGODENDROCYTE LINEAGE TRANSCRIPTION FACTOR 3; OLIG3 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 7; BHLHB7 Percent 609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA Percent 609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES Asterisk 609326 MICRO RNA 1-1; MIR1-1 miRNA1-1;; MIRN1-1 Asterisk 609327 MICRO RNA 124-1; MIR124-1 miRNA124-1;; MIRN124-1;; miRNA124A1;; MIR124A1;; MIRN124A1 Asterisk 609328 URIDINE/CYTIDINE KINASE 1; UCK1 Asterisk 609329 URIDINE/CYTIDINE KINASE 2; UCK2 TSA903 Asterisk 609330 ONCOPROTEIN-INDUCED TRANSCRIPT 3, MOUSE, HOMOLOG OF; OIT3 LIVER-SPECIFIC ZONA PELLUCIDA DOMAIN-CONTAINING PROTEIN; LZP Asterisk 609331 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E23; BHLHE23 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 4; BHLHB4 Asterisk 609332 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 7A; TTC7A TTC7;; KIAA1140 Asterisk 609333 TRACE AMINE-ASSOCIATED RECEPTOR 1; TAAR1 TAR1; TA1 Number Sign 609334 CHROMOSOME 18 PERICENTRIC INVERSION Asterisk 609335 ODORANT RESPONSE ABNORMAL 4, C. ELEGANS, HOMOLOG OF; ODR4 ODR4 GPCR LOCALIZATION FACTOR HOMOLOG;; CHROMOSOME 1 OPEN READING FRAME 27; C1ORF27 Asterisk 609336 ANGIOPOIETIN-LIKE 6; ANGPTL6 ANGIOPOIETIN-RELATED GROWTH FACTOR; AGF Asterisk 609337 MICRO RNA 155; MIR155 miRNA155;; MIRN155 BIC TRANSCRIPT, INCLUDED; BIC, INCLUDED Number Sign 609338 CAROTID INTIMAL MEDIAL THICKNESS 1 CIMT1;; INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY Caret 609339 MOVED TO 265000 Number Sign 609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28 Asterisk 609341 TRYPTASE, GAMMA-1; TPSG1 TRYPTASE, GAMMA;; TRANSMEMBRANE TRYPTASE; TMT Asterisk 609342 GASTRIC INTRINSIC FACTOR; GIF IF Asterisk 609343 PROTEASE, SERINE, 22; PRSS22 TRYPTASE, EPSILON Asterisk 609344 KIELIN/CHORDIN-LIKE PROTEIN KCP;; KIELIN-LIKE PROTEIN NULL 609345 CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA Asterisk 609346 RECEPTOR EXPRESSION-ENHANCING PROTEIN 6; REEP6 DELETED IN POLYPOSIS 1-LIKE 1; DP1L1;; TB2-LIKE 1; TB2L1;; CHROMOSOME 19 OPEN READING FRAME 32; C19ORF32 Asterisk 609347 RECEPTOR EXPRESSION-ENHANCING PROTEIN 2; REEP2 SGC32445;; CHROMOSOME 5 OPEN READING FRAME 19; C5ORF19 Asterisk 609348 RECEPTOR EXPRESSION-ENHANCING PROTEIN 3; REEP3 CHROMOSOME 10 OPEN READING FRAME 74; C10ORF74 Asterisk 609349 RECEPTOR EXPRESSION-ENHANCING PROTEIN 4; REEP4 CHROMOSOME 8 OPEN READING FRAME 20; C8ORF20 Asterisk 609350 RECEPTOR-TRANSPORTING PROTEIN 4; RTP4 Asterisk 609351 ADP-RIBOSYLATION FACTOR-LIKE 11; ARL11 ADP-RIBOSYLATION FACTOR-LIKE TUMOR SUPPRESSOR 1; ARLTS1 Number Sign 609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA Asterisk 609353 ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACEYTLTRANSFERASE 2; ESCO2 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2;; ECO1, S. CEREVISIAE, HOMOLOG OF, 2;; CTF7, S. CEREVISIAE, HOMOLOG OF, 2;; ESO1, S. POMBE, HOMOLOG OF, 2;; ESTABLISHMENT FACTOR ORTHOLOG 2; EFO2 Percent 609354 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5; BMND5 Asterisk 609355 MICRO RNA 32; MIR32 miRNA32;; MIRN32 Asterisk 609356 NUCLEAR FMRP-INTERACTING PROTEIN 2; NUFIP2 FMRP-INTERACTING PROTEIN, 82-KD;; 82-FIP;; KIAA1321;; PROLIFERATION-INDUCING GENE 1; PIG1 Asterisk 609357 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 10; MCM10 MINICHROMOSOME MAINTENANCE 10, S. CEREVISIAE, HOMOLOG OF;; DNA43 Asterisk 609358 ETS VARIANT GENE 2; ETV2 ETS-RELATED PROTEIN 71, MOUSE, HOMOLOG OF; ER71; ETSRP71 Asterisk 609359 HS1-BINDING PROTEIN 3; HS1BP3 FLJ14249 Asterisk 609360 RENALASE; RNLS CHROMOSOME 10 OPEN READING FRAME 59; C10ORF59 Asterisk 609361 MOB FAMILY, MEMBER 4; MOB4 PHOCEIN;; MOB1-LIKE PROTEIN 3; MOBKL3;; MOB1;; MOB3;; PREIMPLANTATION PROTEIN 3, MOUSE, HOMOLOG OF; PREI3 Asterisk 609362 LYSOPHOSPHOLIPASE 3; LYPLA3 LCAT-LIKE LYSOPHOSPHOLIPASE; LLPL;; ACYLCERAMIDE SYNTHASE; ACS;; LYSOSOMAL PHOSPHOLIPASE A2; LPLA2 NULL 609363 COLLOID CYSTS OF THIRD VENTRICLE NEUROEPITHELIAL CYSTS OF THIRD VENTRICLE Asterisk 609364 NLR FAMILY, PYRIN DOMAIN-CONTAINING 2; NLRP2 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 2; NALP2;; PYRIN DOMAIN- AND NACHT DOMAIN-CONTAINING PROTEIN 1; PAN1;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 2; PYPAF2 Asterisk 609365 GUANINE NUCLEOTIDE-BINDING PROTEIN-LIKE 2; GNL2 NGP1 Asterisk 609366 SH2 DOMAIN-BINDING PROTEIN 1; SH2BP1 TETRATRICOPEPTIDE-CONTAINING SH2-BINDING PHOSPHOPROTEIN, 150-KD;; p150(TSP);; CTR9, S. CEREVISIAE, HOMOLOG OF;; KIAA0155 Asterisk 609367 KIAA1279 GENE; KIAA1279 KINESIN-BINDING PROTEIN; KBP Asterisk 609368 ATLASTIN GTPase 2; ATL2 ADP-RIBOSYLATION-LIKE FACTOR 6-INTERACTING PROTEIN 2; ARL6IP2;; ARL6-INTERACTING PROTEIN 2 Asterisk 609369 ATLASTIN GTPase 3; ATL3 Asterisk 609370 SERINE/THREONINE KINASE 35; STK35 CLP36-INTERACTING KINASE; CLIK1 Asterisk 609371 CHROMOSOME 5 OPEN READING FRAME 5; C5ORF5 Asterisk 609372 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER C; FAM53C CHROMOSOME 5 OPEN READING FRAME 6; C5ORF6 Asterisk 609373 LYSINE-SPECIFIC DEMETHYLASE 3B; KDM3B K-SPECIFIC DEMETHYLASE 3B;; CHROMOSOME 5 OPEN READING FRAME 7; C5ORF7;; KIAA1082;; JUMONJI DOMAIN-CONTAINING PROTEIN 1B, FORMERLY; JMJD1B, FORMERLY Asterisk 609374 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 5; CDCA5 SORORIN Asterisk 609375 LIN9, C. ELEGANS, HOMOLOG OF; LIN9 Percent 609376 CATARACT 35; CTRCT35 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1; CATCN1 Asterisk 609377 ACD, MOUSE, HOMOLOG OF; ACD POT1- AND TIN2-ORGANIZING PROTEIN; PTOP;; POT1-INTERACTING PROTEIN 1; PIP1;; TIN2-INTERACTING PROTEIN 1; TINT1;; TELOMERE PROTEIN TPP1 Percent 609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6 Asterisk 609379 LIPOCALIN 6; LCN6 Asterisk 609380 LEISHMANOLYSIN-LIKE; LMLN INVADOLYSIN, DROSOPHILA, HOMOLOG OF Asterisk 609381 SYNTAXIN-BINDING PROTEIN 5-LIKE; STXBP5L LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 4; LLGL4 Asterisk 609382 IMMEDIATE-EARLY RESPONSE 3-INTERACTING PROTEIN 1; IER3IP1 Asterisk 609383 NIPA-LIKE DOMAIN-CONTAINING 4; NIPAL4 ICHTHYIN; ICHYN Percent 609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C; CFEOM3C FEOM4 LOCUS Asterisk 609385 DEAD END, ZEBRAFISH, HOMOLOG OF, 1; DND1 Asterisk 609386 STRUCTURAL MAINTENANCE OF CHROMOSOMES 5; SMC5 SMC5-LIKE 1; SMC5L1;; KIAA0594 Asterisk 609387 STRUCTURAL MAINTENANCE OF CHROMOSOMES 6; SMC6 SMC6-LIKE 1; SMC6L1 Asterisk 609388 METHYLTRANSFERASE-LIKE 9; METTL9 DORA REVERSE STRAND; DREV Asterisk 609389 INOSITOL POLYPHOSPHATE 5-PHOSPHATASE F; INPP5F SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 2; SAC2;; KIAA0966 Asterisk 609390 FIG4, S. CEREVISIAE, HOMOLOG OF; FIG4 SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 3; SAC3;; KIAA0274 Asterisk 609391 TRANSCRIPTION FACTOR Sp5; SP5 SPECIFICITY PROTEIN 5 Asterisk 609392 KRUPPEL-LIKE FACTOR 3; KLF3 BASIC KRUPPEL-LIKE FACTOR; BKLF Asterisk 609393 KRUPPEL-LIKE FACTOR 14; KLF14 BASIC TRANSCRIPTION ELEMENT-BINDING PROTEIN 5; BTEB5 Asterisk 609394 SPC24, NDC80 KINETOCHORE COMPLEX COMPONENT; SPC24 SPINDLE POLE BODY COMPONENT 24, S. CEREVISIAE, HOMOLOG OF; SPBC24 SPC24, S. CEREVISIAE, HOMOLOG OF Asterisk 609395 SPC25, NDC80 KINETOCHORE COMPLEX COMPONENT; SPC25 SPINDLE POLE BODY COMPONENT 25, S. CEREVISIAE, HOMOLOG OF; SPBC25;; SPC25, S. CEREVISIAE, HOMOLOG OF Asterisk 609396 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE 1; PHLPP1 PHLPP;; SUPRACHIASMATIC NUCLEUS CIRCADIAN OSCILLATORY PROTEIN; SCOP;; KIAA0606 Asterisk 609397 STORKHEAD BOX 1; STOX1 Asterisk 609398 ATPase, H+ TRANSPORTING, LYSOSOMAL, 34-KD, V1 SUBUNIT D; ATP6V1D ATP6M Asterisk 609399 SPERM EQUATORIAL SEGMENT PROTEIN 1; SPESP1 Percent 609400 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4; AIS4 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 5; VAMAS5;; AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED Asterisk 609401 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 3; HS6ST3 Percent 609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2 Percent 609403 PREECLAMPSIA/ECLAMPSIA 3; PEE3 Number Sign 609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4 Asterisk 609405 RHO GTPase-ACTIVATING PROTEIN 8; ARHGAP8 GTPase-ACTIVATING PROTEIN, RHO, 8;; BCH DOMAIN-CONTAINING, PROLINE-RICH, AND CDC42GAP-LIKE PROTEIN 1; BPGAP1 Asterisk 609406 PROLINE-RICH PROTEIN 5; PRR5 PP610;; PROTEIN OBSERVED WITH RICTOR 1; PROTOR1 Asterisk 609407 HEPARAN SULFATE (GLUCOSAMINE) 3-O-SULFOTRANSFERASE 5; HS3ST5 3OST5 Percent 609408 HOLOPROSENCEPHALY 8; HPE8 Asterisk 609409 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A0; HNRNPA0 HNRPA0 Asterisk 609410 SYNAPTOJANIN 2; SYNJ2 KIAA0348 Asterisk 609411 SYNAPTOJANIN 2-BINDING PROTEIN; SYNJ2BP SYNJ2-BINDING PROTEIN;; OUTER MEMBRANE PROTEIN, 25-KD; OMP25;; ACTIVIN RECEPTOR-INTERACTING PROTEIN 2; ARIP2 Asterisk 609412 EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8 CSA GENE;; CKN1 GENE Asterisk 609413 EXCISION REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6 RAD26, S. CEREVISIAE, HOMOLOG OF;; CSB GENE PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED 3, INCLUDED; PGBD3, INCLUDED;; CSB/PGBD3 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED;; CSB/PGBD3 PROTEIN, INCLUDED;; ERCC6/PGBD3 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED;; ERCC6/PGBD3 PROTEIN, INCLUDED Asterisk 609414 PHOSPHOINOSITIDE KINASE, FYVE FINGER-CONTAINING; PIKFYVE PHOSPHATIDYLINOSITOL 3-PHOSPHATE 5-KINASE, TYPE III; PIP5K3;; FAB1, S. CEREVISIAE, HOMOLOG OF; FAB1;; KIAA0981 Asterisk 609415 MICRO RNA 17 HOST GENE; MIR17HG MIR17 HOST GENE;; MIR17-92 CLUSTER HOST GENE;; MICRO RNA HOST GENE 1; MIRHG1; MIHG1; MIRH1;; ONCOMIR1 HOST GENE;; CHROMOSOME 13 OPEN READING FRAME 25; C13ORF25 MIR17-92 CLUSTER, INCLUDED;; ONCOMIR1, INCLUDED Asterisk 609416 MICRO RNA 17; MIR17 miRNA17;; MIRN17;; MIR17-5p;; MICRO RNA 91; MIR91;; miRNA91;; MIRN91 MICRO RNA 17*, INCLUDED; MIR17*, INCLUDED;; MIR17-3p, INCLUDED Asterisk 609417 MICRO RNA 18A; MIR18A miRNA18A;; MIRN18A Asterisk 609418 MICRO RNA 19A; MIR19A miRNA19A;; MIRN19A Asterisk 609419 MICRO RNA 19B1; MIR19B1 miRNA19B1;; MIRN19B1 Asterisk 609420 MICRO RNA 20A; MIR20A miRNA20A;; MIRN20A Caret 609421 MOVED TO 609416 Asterisk 609422 MICRO RNA 92A1; MIR92A1 miRNA92A1;; MIRN92A1;; MIR92-1;; MIRN92-1;; miRNA92-1 Number Sign 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO, INCLUDED;; HIV-1, RESISTANCE TO, INCLUDED;; ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO, INCLUDED;; AIDS, PROGRESSION TO, INCLUDED Asterisk 609424 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING 1; RC3H1 ROQUIN;; KIAA2025 Number Sign 609425 CHROMOSOME 3q29 DELETION SYNDROME MICRODELETION 3q29 SYNDROME Asterisk 609426 MISSHAPEN/NIK-RELATED KINASE 1; MINK1 MINK;; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE KINASE 6; MAP4K6 Asterisk 609427 LHFP-LIKE PROTEIN 5; LHFPL5 TETRASPAN MEMBRANE PROTEIN OF HAIR CELL STEREOCILIA; TMHS Percent 609428 TUKEL SYNDROME FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH ULNAR HAND ANOMALIES;; CFEOM-U;; FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 4; CFEOM4 Asterisk 609429 FORKHEAD BOX N4; FOXN4 Asterisk 609430 NEURONAL PAS DOMAIN PROTEIN 3; NPAS3 MEMBER OF PAS SUPERFAMILY 6; MOP6 Asterisk 609431 MAP3K12-BINDING INHIBITORY PROTEIN; MBIP MUK-BINDING INHIBITORY PROTEIN Number Sign 609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD SYNDACTYLY, MALIK-PERCIN TYPE;; SYNDACTYLY, TYPE IX Asterisk 609433 UBIQUITIN INTERACTION MOTIF-CONTAINING PROTEIN 1; UIMC1 RECEPTOR-ASSOCIATED PROTEIN, 80-KD; RAP80 Asterisk 609434 LUC7, S. CEREVISIAE, HOMOLOG OF, 3; LUC7L3 LUC7-LIKE 3;; CISPLATIN RESISTANCE-ASSOCIATED OVEREXPRESSED PROTEIN; CROP;; LUC7A Asterisk 609435 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 13; NDUFA13 GENE ASSOCIATED WITH RETINOID- AND INTERFERON-INDUCED MORTALITY 19; GRIM19 Asterisk 609436 FIBROBLAST GROWTH FACTOR 21; FGF21 Asterisk 609437 SERINE/THREONINE PROTEIN KINASE 40; STK40 SINK-HOMOLOGOUS INHIBITORY KINASE; SHIK NULL 609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK Number Sign 609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48 Asterisk 609440 UTP11-LIKE PROTEIN; UTP11L CGI94 Number Sign 609441 ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE; AMDD CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES NULL 609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO FETAL VALPROATE SYNDROME; FVS Asterisk 609443 CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 2A; CELA2A ELASTASE 2A; ELA2A;; PANCREATIC ELASTASE 2A Asterisk 609444 CHYMOTRYPSIN-LIKE ELASTASE FAMILY, MEMBER 2B; CELA2B ELASTASE 2B; ELA2B;; PANCREATIC ELASTASE 2B Asterisk 609445 RELAXIN/INSULIN-LIKE FAMILY PEPTIDE RECEPTOR 3; RXFP3 RELAXIN 3 RECEPTOR 1; RLN3R1;; RLN3 RECEPTOR 1;; SOMATOSTATIN- AND ANGIOTENSIN-LIKE PEPTIDE RECEPTOR; SALPR;; G PROTEIN-COUPLED RECEPTOR 135; GPCR135 Number Sign 609446 PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD Asterisk 609447 MARGINAL ZONE B AND B1 CELL-SPECIFIC PROTEIN; MZB1 PROAPOPTOTIC CASPASE ADAPTOR PROTEIN; PACAP;; MGC29506 Asterisk 609448 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 12; TXNDC12 THIOREDOXIN-LIKE PROTEIN p19; TLP19;; ENDOPLASMIC RETICULUM PROTEIN, 18-KD; ERP18;; ANTERIOR GRADIENT 1, XENOPUS, HOMOLOG OF; AGR1 Asterisk 609449 NUDE NEURODEVELOPMENT PROTEIN 1; NDE1 NUDE, A. NIDULANS, HOMOLOG OF, 1;; NUDE;; HOM-TES-87 Asterisk 609450 MAX DIMERIZATION PROTEIN 3; MXD3 MAD3 Asterisk 609451 ZINC FINGER PROTEIN 90, MOUSE, HOMOLOG OF; ZFP90 NK10;; KIAA1954 FOXP3-INTERACTING KRAB DOMAIN-CONTAINING PROTEIN, INCLUDED; FIK, INCLUDED Number Sign 609452 MYOPATHY, MYOFIBRILLAR, 4; MFM4 Asterisk 609453 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 7; GOLGA7 GOLGI COMPLEX-ASSOCIATED PROTEIN, 16-KD; GCP16 Percent 609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2 Asterisk 609455 PROLINE-, GLUTAMIC ACID-, AND LEUCINE-RICH PROTEIN 1; PELP1 MNAR Percent 609456 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE Asterisk 609457 HISTIDINE AMMONIA-LYASE; HAL HISTIDASE Asterisk 609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 MANNOSIDASE, ALPHA B, LYSOSOMAL; MANB;; LAMAN Asterisk 609459 DIGEORGE SYNDROME CRITICAL REGION GENE 6-LIKE; DGCR6L Number Sign 609460 GOLDBERG-SHPRINTZEN SYNDROME; GOSHS GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Asterisk 609461 TRIBBLES, DROSOPHILA, HOMOLOG OF, 1; TRIB1 TRB1;; SKIP1;; C8FW Asterisk 609462 TRIBBLES, DROSOPHILA, HOMOLOG OF, 2; TRIB2 TRB2;; C5FW;; GS3955 Asterisk 609463 MKL/MYOCARDIN-LIKE 2; MKL2 MYOCARDIN-RELATED TRANSCRIPTION FACTOR B, MOUSE, HOMOLOG OF; MRTFB MKL2/C11ORF95 FUSION GENE, INCLUDED Caret 609464 MOVED TO 186580 NULL 609465 AL-GAZALI SYNDROME NULL 609466 CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL HEARING LOSS Asterisk 609467 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 2; CCL3L2 LD78-GAMMA;; G0S19-3;; G0S19-GAMMA Asterisk 609468 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 3; CCL3L3 Percent 609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS NEDE;; ALPORT/FOCAL SEGMENTAL GLOMERULOSCLEROSIS-LIKE SYNDROME Percent 609470 LEFT VENTRICULAR NONCOMPACTION 2; LVNC2 Asterisk 609471 GLUCOSIDASE, BETA, ACID 2; GBA2 BETA-GLUCOSIDASE, BILE ACID;; BILE ACID BETA-GLUCOSIDASE;; KIAA1605;; GLUCOSYLCERAMIDASE, NONLYSOSOMAL Asterisk 609472 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-4; CNGA4 Asterisk 609473 CINGULIN, XENOPUS, HOMOLOG OF; CGN KIAA1319 Asterisk 609474 NEURONAL PENTRAXIN RECEPTOR; NPTXR NPR Asterisk 609475 A-KINASE ANCHOR PROTEIN 8-LIKE PROTEIN; AKAP8L AKAP8-LIKE PROTEIN;; HOMOLOGOUS TO AKAP95; HA95;; NEIGHBOR OF AKAP95; NAKAP95; NAKAP;; HELICASE A-BINDING PROTEIN, 95-KD; HAP95 Asterisk 609476 NEMO-LIKE KINASE; NLK Asterisk 609477 SINGLE-PASS MEMBRANE PROTEIN WITH COILED-COIL DOMAINS 4; SMCO4 CHROMOSOME 11 OPEN READING FRAME 75; C11ORF75;; FN5, PUFFERFISH, HOMOLOG OF; FN5 Asterisk 609478 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 3; ST8SIA3 ALPHA-2,8-SIALYLTRANSFERASE III;; ST8SIA III Asterisk 609479 LEUCINE ZIPPER- AND STERILE ALPHA MOTIF-CONTAINING KINASE; ZAK MLK-LIKE MITOGEN-ACTIVATED PROTEIN TRIPLE KINASE; MLTK;; MLK-RELATED KINASE; MRK Caret 609480 MOVED TO 194521 Asterisk 609481 ISL2 TRANSCRIPTION FACTOR, LIM/HOMEODOMAIN; ISL2 ISLET 2 Asterisk 609482 ANTERIOR GRADIENT 3, XENOPUS, HOMOLOG OF; AGR3 BREAST CANCER MEMBRANE PROTEIN 11; BCMP11 Asterisk 609483 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER B; FAM84B BREAST CANCER MEMBRANE PROTEIN 101; BCMP101 Asterisk 609484 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 3; LYPD3 GPI-ANCHORED METASTASIS-ASSOCIATED PROTEIN C4.4A;; C4.4A Asterisk 609485 MODULATOR OF APOPTOSIS 1; MOAP1 MAP1;; PARANEOPLASTIC MA ANTIGEN FAMILY, MEMBER 4; PNMA4;; PARANEOPLASTIC ANTIGEN-LIKE PROTEIN 4 Asterisk 609486 E2F-ASSOCIATED PHOSPHOPROTEIN; EAPP CHROMOSOME 14 OPEN READING FRAME 11; C14ORF11 Asterisk 609487 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 2; MAP3K2 MAP/ERK KINASE KINASE 2; MEKK2 Asterisk 609488 CANCER/TESTIS ANTIGEN KM-HN-1 MGC33607 Asterisk 609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA MANB1;; MANNANASE;; MANNASE Asterisk 609490 INHIBITORY CASPASE RECRUITMENT DOMAIN PROTEIN INCA Asterisk 609491 G PROTEIN SIGNALING MODULATOR 1; GPSM1 ACTIVATOR OF G PROTEIN SIGNALING 3; AGS3 Asterisk 609492 RAS ASSOCIATION DOMAIN FAMILY PROTEIN 2; RASSF2 RASFADIN;; KIAA0168 Asterisk 609493 SLC2A4 REGULATOR; SLC2A4RG GLUT4 ENHANCER FACTOR; GEF;; HD GENE REGULATORY REGION-BINDING PROTEIN 1; HDBP1 Asterisk 609494 ZINC FINGER PROTEIN 395; ZNF395 PAPILLOMAVIRUS-BINDING FACTOR; PBF;; HD GENE REGULATORY REGION-BINDING PROTEIN 2; HDBP2 Asterisk 609495 GAMETOGENETIN-BINDING PROTEIN 1; GGNBP1 Caret 609496 MOVED TO 609814 Asterisk 609497 ENDOPLASMIC RETICULUM AMINOPEPTIDASE 2; ERAP2 LEUKOCYTE-DERIVED ARGININE AMINOPEPTIDASE; LRAP Asterisk 609498 F-BOX ONLY PROTEIN 47 FBXO47 Asterisk 609499 MCF2-LIKE PROTEIN; MCF2L OST;; KIAA0362 Percent 609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET Asterisk 609501 TUDOR AND KH DOMAINS-CONTAINING PROTEIN; TDRKH Asterisk 609502 CADHERIN-RELATED FAMILY, MEMBER 1; CDHR1 PROTOCADHERIN 21; PCDH21;; PHOTORECEPTOR CADHERIN; PRCAD Asterisk 609503 TESTICULAR HAPLOID EXPRESSED GENE, MOUSE, HOMOLOG OF; THEG Asterisk 609504 MICROSPHERULE PROTEIN 1; MCRS1 p78 MICROSPHERULE PROTEIN, 58-KD, INCLUDED; MSP58, INCLUDED;; MICROSPHERULE PROTEIN 2, INCLUDED; MCRS2, INCLUDED Asterisk 609505 TRIPARTITE MOTIF-CONTAINING PROTEIN 16; TRIM16 ESTROGEN-RESPONSIVE B-BOX PROTEIN; EBBP Asterisk 609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1 25-HYDROXYVITAMIN D3-1-ALPHA-HYDROXYLASE;; 1-ALPHA-HYDROXYLASE;; P450C1-ALPHA Asterisk 609507 TOPOISOMERASE I-BINDING ARGININE/SERINE-RICH PROTEIN; TOPORS p53-BINDING PROTEIN 3; P53BP3;; LUN Number Sign 609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR;; STICKLER SYNDROME, ATYPICAL RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED Asterisk 609509 INTERLEUKIN 31; IL31 Asterisk 609510 INTERLEUKIN 31 RECEPTOR A; IL31RA GP130-LIKE MONOCYTE RECEPTOR; GLMR;; GP130-LIKE RECEPTOR; GPL Asterisk 609511 RABENOSYN, RAB EFFECTOR; RBSN ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 20; ZFYVE20;; RABENOSYN 5 Asterisk 609512 CHMP FAMILY, MEMBER 2B; CHMP2B CHROMATIN-MODIFYING PROTEIN 2B;; CHARGED MULTIVESICULAR BODY PROTEIN 2B;; VACUOLAR PROTEIN SORTING 2, YEAST, HOMOLOG OF, B; VPS2B Asterisk 609513 NEUROPEPTIDE S NPS Asterisk 609514 TAUBE NUSS, MOUSE, HOMOLOG OF; TBN TBP-ASSOCIATED FACTOR 8; TAF8;; TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 43-KD; TAFII43 NULL 609515 IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES Asterisk 609516 ZINC FINGER PROTEIN 382; ZNF382 KRAB/ZINC FINGER SUPPRESSOR PROTEIN 1, RAT, HOMOLOG OF; KS1 Asterisk 609517 TGFB1-INDUCED ANTIAPOPTOTIC FACTOR 1; TIAF1 MYOSIN CONTAINING PDZ DOMAIN; MYSPDZ;; MOLECULE ASSOCIATED WITH JAK3 N TERMINUS; MAJN;; KIAA0216 Asterisk 609518 THAP DOMAIN-CONTAINING PROTEIN 7; THAP7 Asterisk 609519 TCF3 FUSION PARTNER; TFPT FB1;; AMIDA, RAT, HOMOLOG OF TFPT/E2A FUSION GENE, INCLUDED Asterisk 609520 THAP DOMAIN-CONTAINING PROTEIN 1; THAP1 Asterisk 609521 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 1; SLC30A1 ZINC TRANSPORTER 1; ZNT1 Asterisk 609522 ELONGIN A2; ELOA2 TRANSCRIPTION ELONGATION FACTOR B, POLYPEPTIDE 3B; TCEB3B Asterisk 609523 ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 FATTY ALDEHYDE DEHYDROGENASE; FALDH;; ALDEHYDE DEHYDROGENASE 10; ALDH10 Number Sign 609524 MYOPATHY, MYOFIBRILLAR, 5; MFM5 MYOPATHY, MYOFIBRILLAR, FILAMIN C-RELATED;; FILAMINOPATHY, AUTOSOMAL DOMINANT Asterisk 609525 TENSION-INDUCED/INHIBITED PROTEIN TIP;; FLJ13984 Asterisk 609526 PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G4; PLEKHG4 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;; PURATROPHIN 1;; PURKINJE CELL ATROPHY-ASSOCIATED PROTEIN 1 Asterisk 609527 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; RAPGEF5 GUANINE NUCLEOTIDE EXCHANGE FACTOR FOR RAP1; GFR;; MRAS-REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR; MRGEF;; KIAA0277 Number Sign 609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME CEDNIK SYNDROME Number Sign 609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2 IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OF, TACI-RELATED;; IgA, SELECTIVE DEFICIENCY OF, TACI-RELATED Asterisk 609530 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RAPGEF2 NEURAL RAP GUANINE NUCLEOTIDE EXCHANGE PROTEIN; NRAPGEP;; RAS-ASSOCIATING GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAGEF;; PDZ DOMAIN-CONTAINING GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; PDZGEF1;; KIAA0313 Asterisk 609531 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 3; RASGRP3 GRP3;; KIAA0846 Number Sign 609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO HCV, SUSCEPTIBILITY TO HEPATITIS C VIRUS, RESISTANCE TO, INCLUDED;; HCV, RESISTANCE TO, INCLUDED;; HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF, INCLUDED Number Sign 609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 Asterisk 609534 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 5; ATAD5 CHROMOSOME 17 OPEN READING FRAME 41; C17ORF41;; FRAG1;; ENHANCED LEVEL OF GENOMIC INSTABILITY 1; ELG1;; FLJ12735 Number Sign 609535 DRUG METABOLISM, POOR, CYP2C19-RELATED MEPHENYTOIN, POOR METABOLISM OF, INCLUDED;; OMEPRAZOLE, POOR METABOLISM OF, INCLUDED;; PROGUANIL, POOR METABOLISM OF, INCLUDED;; CLOPIDOGREL, POOR METABOLISM OF, INCLUDED Number Sign 609536 COMPLEMENT COMPONENT 5 DEFICIENCY; C5D C5 DEFICIENCY NULL 609537 LIPOMYELOMENINGOCELE Asterisk 609538 PROTEIN-TYROSINE PHOSPHATASE, MITOCHONDRIAL, 1; PTPMT1 PTEN-LIKE PHOSPHATASE; PLIP;; PHOSPHOINOSITIDE LIPID PHOSPHATASE Asterisk 609539 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2 ARID-CONTAINING PROTEIN 2;; BRG1-ASSOCIATED FACTOR, 200-KD; BAF200;; KIAA1557 Asterisk 609540 WD REPEAT-CONTAINING PROTEIN 61; WDR61 SKI8, YEAST, HOMOLOG OF; SKI8 Number Sign 609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN Asterisk 609542 ATPase, CLASS I, TYPE 8A, MEMBER 1; ATP8A1 ATPase II Asterisk 609543 BEYLA GENE BEYLA;; LOC497634 Asterisk 609544 CENTRIOLAR COILED-COIL PROTEIN, 110-KD; CCP110 CENTROSOMAL PROTEIN, 110-KD; CP110;; KIAA0419 NULL 609545 OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS GERSHONI-BARUCH SYNDROME Asterisk 609546 UBIQUITIN-SPECIFIC PROTEASE 29; USP29 HOM-TES-84/86 Caret 609547 MOVED TO 131200 Asterisk 609548 LMAN1-LIKE PROTEIN; LMAN1L ERGIC53-LIKE PROTEIN; ERGL Number Sign 609549 NANOPHTHALMOS 2; NNO2 NANOPHTHALMIA 2;; NANOPHTHALMOS, AUTOSOMAL RECESSIVE Asterisk 609550 ZINC FINGER PROTEIN 330; ZNF330 NUCLEOLAR CYSTEINE-RICH PROTEIN;; NUCLEOLAR AUTOANTIGEN, 36-KD; NOA36 Asterisk 609551 LECTIN, MANNOSE-BINDING, 2; LMAN2 VIP36;; GP36B Asterisk 609552 LMAN2-LIKE PROTEIN; LMAN2L VIP36-LIKE PROTEIN; VIPL Asterisk 609553 RETBINDIN RTBDN Asterisk 609554 INTEGRAL MEMBRANE PROTEIN 2C; ITM2C BRI3 Asterisk 609555 CARBOXYPEPTIDASE X, M14 FAMILY, MEMBER 1; CPXM1 CPXM;; CPX1 Asterisk 609556 ATPase, TYPE 13A4; ATP13A4 Asterisk 609557 PROLYL ENDOPEPTIDASE-LIKE; PREPL KIAA0436 Percent 609558 PROSTATE CANCER, HEREDITARY, 6 HPC6 Asterisk 609559 CALMODULIN LYSINE N-METHYLTRANSFERASE; CAMKMT CHROMOSOME 2 OPEN READING FRAME 34; C2ORF34 Number Sign 609560 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED Asterisk 609561 CARBOXYPEPTIDASE A5; CPA5 Asterisk 609562 CARBOXYPEPTIDASE A6; CPA6 CPAH Asterisk 609563 CARBOXYPEPTIDASE O; CPO Asterisk 609564 POLY(ADP-RIBOSE) POLYMERASE 10; PARP10 Asterisk 609565 MAST CELL-EXPRESSED MEMBRANE PROTEIN 1 MCEMP1 Percent 609566 PARIETAL FORAMINA 3; PFM3 Asterisk 609567 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 3; PNPLA3 ADIPONUTRIN; ADPN;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, EPSILON;; IPLA2-EPSILON Asterisk 609568 RHO GTPase-ACTIVATING PROTEIN 20; ARHGAP20 GTPase-ACTIVATING PROTEIN, RHO, 20;; RA AND RHOGAP DOMAINS-CONTAINING PROTEIN; RARHOGAP;; KIAA1391 Caret 609569 MOVED TO 132100 Percent 609570 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8 MGR8 Asterisk 609571 ZINC FINGER PROTEIN 699; ZNF699 HANGOVER, DROSOPHILA, HOMOLOG OF; HANG;; FLJ38144 Percent 609572 PHOTOPAROXYSMAL RESPONSE 2; PPR2 PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY Percent 609573 PHOTOPAROXYSMAL RESPONSE 3; PPR3 PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT MYOCLONIC EPILEPSY Asterisk 609574 17-BETA-HYDROXYSTEROID DEHYDROGENASE XII; HSD17B12 17-BETA-HSD XII;; 3-KETOACYL-CoA REDUCTASE; KAR Asterisk 609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL VLCAD Asterisk 609576 ACYL-CoA DEHYDROGENASE, LONG-CHAIN; ACADL LCAD Asterisk 609577 CULLIN 7; CUL7 KIAA0076 Percent 609578 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 2; RCM2 Number Sign 609579 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION Asterisk 609580 NINEIN-LIKE PROTEIN; NINL NLP;; KIAA0980 Caret 609581 MOVED TO 130720 Asterisk 609582 MICRO RNA 122A; MIR122A miRNA122A;; miRNA122;; MIRN122A;; MIR122 Number Sign 609583 JOUBERT SYNDROME 4; JBTS4 Asterisk 609584 L-2-HYDROXYGLUTARATE DEHYDROGENASE; L2HGDH DURANIN;; CHROMOSOME 14 OPEN READING FRAME 160; C14ORF160 Asterisk 609585 COMPLEXIN 3; CPLX3 CPX III Asterisk 609586 COMPLEXIN 4; CPLX4 CPX IV Asterisk 609587 REGULATOR OF CHROMOSOME CONDENSATION 2; RCC2 TD60;; KIAA1470 Asterisk 609588 GLUTAREDOXIN 5; GLRX5 GRX5;; CHROMOSOME 14 OPEN READING FRAME 87; C14ORF87;; PRO1238;; FLB4739 Asterisk 609589 MITOCHONDRIAL TUMOR SUPPRESSOR GENE 1; MTUS1 MTSG1;; ANGIOTENSIN II RECEPTOR 2-INTERACTING PROTEIN; ATIP;; AGTR2-INTERACTING PROTEIN;; KIAA1288 Asterisk 609590 QUAKING, MOUSE, HOMOLOG OF; QKI QK1;; QK Asterisk 609591 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1 RAS-LIKE PROTEIN EXPRESSED IN MANY TISSUES; RIT;; ROC1 Asterisk 609592 RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 2; RIT2 RAS-LIKE PROTEIN EXPRESSED IN NEURONS; RIN;; ROC2 Asterisk 609593 CAPPING PROTEIN REGULATOR AND MYOSIN 1 LINKER 1; CARMIL1 CARMIL, DICTYOSTELIUM, HOMOLOG OF; CARMIL;; LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16A; LRRC16A;; LRRC16 Asterisk 609594 VENTRICULAR ZONE-EXPRESSED PH DOMAIN-CONTAINING PROTEIN, ZEBRAFISH, HOMOLOG OF, 1; VEPH1 MELTED, DROSOPHILA, HOMOLOG OF; MELT;; KIAA1692 Asterisk 609595 R-SPONDIN FAMILY, MEMBER 1; RSPO1 ROOF PLATE-SPECIFIC SPONDIN, MOUSE, HOMOLOG OF;; R-SPONDIN; RSPO;; CRISTIN3;; FLJ40906 Asterisk 609596 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT K; EIF3K EIF3-p28;; PLAC24;; EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT 12, FORMERLY; EIF3S12, FORMERLY Number Sign 609597 PARIETAL FORAMINA 2; PFM2 Asterisk 609598 ZINC FINGER AND HOMEODOMAIN PROTEIN 3; ZHX3 KIAA0395 Asterisk 609599 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1; ANKRD1 CARDIAC ANKYRIN REPEAT PROTEIN; CARP;; C193 Asterisk 609600 ZINC FINGER PROTEIN 396; ZNF396 Asterisk 609601 ZINC FINGER PROTEIN 397; ZNF397 Asterisk 609602 ZINC FINGER PROTEIN 393; ZNF393 KRUPPEL-LIKE FACTOR 17; KLF17 Asterisk 609603 CRYSTALLIN, GAMMA-N; CRYGN Asterisk 609604 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, BETA; MAP1LC3B LC3B Asterisk 609605 MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, GAMMA; MAP1LC3C LC3C Asterisk 609606 AUTOPHAGY 3, S. CEREVISIAE, HOMOLOG OF; ATG3 APG3, S. CEREVISIAE, HOMOLOG OF; APG3;; APG3-LIKE; APG3L Asterisk 609607 NECTIN 4; NECTIN4 POLIOVIRUS RECEPTOR-LIKE 4; PVRL4;; POLIOVIRUS RECEPTOR-RELATED 4; PRR4 Asterisk 609608 AUTOPHAGY 12, S. CEREVISIAE, HOMOLOG OF; ATG12 APG12, S. CEREVISIAE, HOMOLOG OF; APG12;; AGP12-LIKE; APG12L;; FBR93 Caret 609609 MOVED TO 231530 Asterisk 609610 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 4; TUBGCP4 GAMMA-TUBULIN COMPLEX COMPONENT 4; GCP4 Asterisk 609611 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER E; ANP32E LEUCINE-RICH ACIDIC NUCLEAR PROTEIN-LIKE; LANPL NULL 609612 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE CONGENITAL FIBROSIS SYNDROME WITH SYNERGISTIC DIVERGENCE;; EXTERNAL OPHTHALMOPLEGIA WITH SYNERGISTIC DIVERGENCE EXTERNAL OPHTHALMOPLEGIA, SYNERGISTIC DIVERGENCE, JAW WINKING, AND OCULOCUTANEOUS HYPOPIGMENTATION, INCLUDED Asterisk 609613 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 2; PLEKHM2 SIFA- AND KINESIN-INTERACTING PROTEIN; SKIP;; KIAA0842 Asterisk 609614 RNA EXONUCLEASE 1, S. CEREVISIAE, HOMOLOG OF; REXO1 REX1, S. CEREVISIAE, HOMOLOG OF; REX1;; ELONGIN A-BINDING PROTEIN 1; ELOABP1;; TRANSCRIPTION ELONGATION FACTOR B POLYPEPTIDE 3-BINDING PROTEIN 1; TCEB3BP1;; KIAA1138 Asterisk 609615 QUEUINE tRNA-RIBOSYLTRANSFERASE 1; QTRT1 tRNA-GUANINE TRANSGLYCOSYLASE; TGT;; TGT, 43-KD SUBUNIT;; TGT, CATALYTIC SUBUNIT NULL 609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS Asterisk 609617 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 2; SLC30A2 ZINC TRANSPORTER 2; ZNT2 Asterisk 609618 NONCODING REPRESSOR OF NFAT; NRON Asterisk 609619 GOLGIN A8 FAMILY, MEMBER B; GOLGA8B GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 8B Number Sign 609620 SHORT QT SYNDROME 1; SQT1 Number Sign 609621 SHORT QT SYNDROME 2; SQT2 Number Sign 609622 SHORT QT SYNDROME 3; SQT3 Asterisk 609623 RAS-INTERACTING PROTEIN 1; RASIP1 RAIN Asterisk 609624 MITOCHONDRIAL COILED-COIL DOMAIN 1; MCCD1 Number Sign 609625 CHROMOSOME 10q26 DELETION SYNDROME TERMINAL CHROMOSOME 10q26 DELETION SYNDROME Asterisk 609626 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 1; MDGA1 MAM DOMAIN-CONTAINING PROTEIN 3; MAMDC3;; GLYCOSYLPHOSPHATIDYLINOSITOL-MAM; GPIM Asterisk 609627 TASTE RECEPTOR, TYPE 2, MEMBER 50; TAS2R50 T2R50;; TAS2R51; T2R51 Number Sign 609628 MAJEED SYNDROME; MJDS CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS, CONGENITAL DYSERYTHROPOIETIC ANEMIA, AND NEUTROPHILIC DERMATOSIS Percent 609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT ENTERIC NEUROPATHY, FAMILIAL;; PSEUDOOBSTRUCTION, CHRONIC INTESTINAL, NEUROPATHIC;; PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL Percent 609630 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1 CLLS1 Asterisk 609631 DEAD BOX POLYPEPTIDE 58; DDX58 DEAD/H BOX 58;; RETINOIC ACID-INDUCIBLE GENE I; RIGI Asterisk 609632 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 5; GDPD5 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 2; GDE2;; PP1665 Percent 609633 MAJOR AFFECTIVE DISORDER 3; MAFD3 BIPOLAR AFFECTIVE DISORDER, EARLY-ONSET; BPEO Number Sign 609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 Asterisk 609635 TRANSCRIPTION FACTOR 23; TCF23 OUT Percent 609636 ALZHEIMER DISEASE 10 ALZHEIMER DISEASE, FAMILIAL, 10;; AD10 Number Sign 609637 HOLOPROSENCEPHALY 5; HPE5 Number Sign 609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA; LAEB Asterisk 609639 HEMOGLOBIN MU HBM Number Sign 609640 FRIAS SYNDROME CHROMOSOME 14q22 DELETION SYNDROME;; GROWTH DEFICIENCY, FACIAL ANOMALIES, AND BRACHYDACTYLY Asterisk 609641 EUKARYOTIC TRANSLATION INITIATION FACTOR 3, SUBUNIT M; EIF3M PCI DOMAIN-CONTAINING PROTEIN 1; PCID1;; HUMAN FETAL LUNG PROTEIN B5; HFLB5; B5;; DENDRITIC CELL PROTEIN GA17; GA17 Asterisk 609642 T-CELL ANTIGEN RECEPTOR, GAMMA SUBUNIT, ALTERNATE READING FRAME PROTEIN TCRG ALTERNATE READING FRAME PROTEIN; TARP Percent 609643 NGUYEN SYNDROME MCA/MR WITH HYPOCHOLESTEROLEMIA DUE TO FAMILIAL HYPOBETALIPOPROTEINEMIA Asterisk 609644 FANCM GENE; FANCM FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 250-KD; FAAP250;; KIAA1596 Asterisk 609645 NLR FAMILY, PYRIN DOMAIN-CONTAINING 4; NLRP4 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 4; NALP4;; PYRIN DOMAIN- AND NACHT DOMAIN-CONTAINING PROTEIN 2; PAN2;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 4; PYPAF4 Number Sign 609646 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42 Percent 609647 DEAFNESS, AUTOSOMAL RECESSIVE 46; DFNB46 Asterisk 609648 NLR FAMILY, PYRIN DOMAIN-CONTAINING 12; NLRP12 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 12; NALP12;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 7; PYPAF7;; REGULATED BY NITRIC OXIDE; RNO;; MONARCH 1 Percent 609649 TRICHILEMMAL CYST 1; TRICY1 TRICHOLEMMAL CYST;; PILAR CYST Asterisk 609650 NLR FAMILY, PYRIN DOMAIN-CONTAINING 6; NLRP6 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 6; NALP6;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 5; PYPAF5 Asterisk 609651 GLYCOPROTEIN HORMONE, ALPHA-2; GPHA2 GPA2; A2 Asterisk 609652 GLYCOPROTEIN HORMONE, BETA-5; GPHB5 GPB5; B5 Asterisk 609653 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 2; NDUFAF2 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 2;; NDUFA12-LIKE; NDUFA12L;; MYC-INDUCED MITOCHONDRIAL PROTEIN;; MIMITIN; MMTN;; B17.2-LIKE;; B17.2L NULL 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS NULL 609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS Percent 609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1 BSZQTL1 Percent 609657 BONE SIZE QUANTITATIVE TRAIT LOCUS 2 BSZQTL2 Asterisk 609658 NLR FAMILY, PYRIN DOMAIN-CONTAINING 5; NLRP5 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 5; NALP5;; MATER, MOUSE, HOMOLOG OF; MATER Asterisk 609659 NLR FAMILY, PYRIN DOMAIN-CONTAINING 8; NLRP8 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 8; NALP8;; PYRIN DOMAIN- AND NACHT DOMAIN-CONTAINING PROTEIN 4; PAN4;; NOD16 Asterisk 609660 NLR FAMILY, PYRIN DOMAIN-CONTAINING 13; NLRP13 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 13; NALP13;; NOD14 Asterisk 609661 NLR FAMILY, PYRIN DOMAIN-CONTAINING 7; NLRP7 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 7; NALP7;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 3; PYPAF3;; NOD12 Asterisk 609662 NLR FAMILY, PYRIN DOMAIN-CONTAINING 10; NLRP10 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 10; NALP10;; PYNOD;; NOD8 Asterisk 609663 NLR FAMILY, PYRIN DOMAIN-CONTAINING 9; NLRP9 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 9; NALP9;; NOD6 Asterisk 609664 NLR FAMILY, PYRIN DOMAIN-CONTAINING 11; NLRP11 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 11; NALP11;; PYRIN DOMAIN-CONTAINING APAF1-LIKE PROTEIN 7; PYPAF7;; NOD17 Asterisk 609665 NLR FAMILY, PYRIN DOMAIN-CONTAINING 14; NLRP14 NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 14; NALP14;; NOD5 Asterisk 609666 TWO-PORE SEGMENT CHANNEL 1; TPCN1 TWO-PORE CHANNEL 1; TPC1;; KIAA1169 Asterisk 609667 T-CELL ACTIVATION GTPase-ACTIVATING PROTEIN; TAGAP Asterisk 609668 PTC7 PROTEIN PHOSPHATASE, S. CEREVISIAE, HOMOLOG OF; PPTC7 T-CELL ACTIVATION PROTEIN PHOSPHATASE 2C; TAPP2C Asterisk 609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36 T-CELL ACTIVATION WD REPEAT-CONTAINING PROTEIN; TAWDRP;; UTP21, S. CEREVISIAE, HOMOLOG OF; UTP21 Percent 609670 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9 MGR9 Asterisk 609671 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 3; STEAP3 TUMOR SUPPRESSOR-ACTIVATED PATHWAY 6; TSAP6 Asterisk 609672 EXOCYST COMPLEX COMPONENT 6; EXOC6 SEC15-LIKE 1; SEC15L1;; SEC15L;; SEC15, S. CEREVISIAE, HOMOLOG OF; SEC15 Asterisk 609673 PLATELET-DERIVED GROWTH FACTOR D; PDGFD SPINAL CORD-DERIVED GROWTH FACTOR B; SCDGFB;; IRIS-EXPRESSED GROWTH FACTOR; IEGF Asterisk 609674 ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACEYTLTRANSFERASE 1; ESCO1 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1;; ECO1, S. CEREVISIAE, HOMOLOG OF, 1;; CTF7, S. CEREVISIAE, HOMOLOG OF, 1;; ESO1, S. POMBE, HOMOLOG OF, 1;; ESTABLISHMENT FACTOR ORTHOLOG 1; EFO1;; KIAA1911 Asterisk 609675 SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1; SOSTDC1 ECTODERMAL BMP INHIBITOR;; ECTODIN;; UTERINE SENSITIZATION-ASSOCIATED GENE 1; USAG1;; WISE Asterisk 609676 MITOCHONDRIAL ANTIVIRAL SIGNALING PROTEIN; MAVS VIRUS-INDUCED SIGNALING ADAPTOR; VISA;; IFNB PROMOTER STIMULATOR 1; IPS1;; CARD ADAPTOR INDUCING IFNB; CARDIF;; KIAA1271 Asterisk 609677 OSTEOSARCOMA-AMPLIFIED GENE 9; OS9 AMPLIFIED IN OSTEOSARCOMA 9;; ENDOPLASMIC RETICULUM LECTIN OS9 Asterisk 609678 SLIT- AND NTRK-LIKE FAMILY, MEMBER 1; SLITRK1 KIAA1910 Asterisk 609679 SLIT- AND NTRK-LIKE FAMILY, MEMBER 3; SLITRK3 KIAA0848 Asterisk 609680 SLIT- AND NTRK-LIKE FAMILY, MEMBER 5; SLITRK5 KIAA0918 Asterisk 609681 SLIT- AND NTRK-LIKE FAMILY, MEMBER 6; SLITRK6 Asterisk 609682 DNA CROSS-LINK REPAIR PROTEIN 1A; DCLRE1A SNM1, S. CEREVISIAE, HOMOLOG OF; SNM1;; SNM1, S. CEREVISIAE, HOMOLOG OF, A; SNM1A;; KIAA0086 Asterisk 609683 DNA CROSS-LINK REPAIR PROTEIN 1B; DCLRE1B SNM1, S. CEREVISIAE, HOMOLOG OF, B; SNM1B;; APOLLO Asterisk 609684 MAL PROTEOLIPID PROTEIN 2; MAL2 Asterisk 609685 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7-LIKE; CDCA7L CDCA7-LIKE;; R1;; JPO2 Asterisk 609686 CITRATE LYASE BETA-LIKE; CLYBL CITRATE LYASE, BETA SUBUNIT; CLB Asterisk 609687 MICRO RNA 196A2; MIR196A2 miRNA196A2;; MIRN196A2 Asterisk 609688 MICRO RNA 196B; MIR196B miRNA196B;; MIRN196B Asterisk 609689 CENTROSOMAL PROTEIN, 250-KD; CEP250 CENTROSOMAL PROTEIN 2; CEP2;; CENTROSOMAL NEK2-ASSOCIATED PROTEIN 1; CNAP1 Asterisk 609690 PHENYLALANINE-tRNA SYNTHETASE, BETA SUBUNIT; FARSB PHENYLALANINE-tRNA SYNTHETASE, CYTOPLASMIC, BETA SUBUNIT; FRSB;; PHENYLALANINE-tRNA SYNTHETASE-LIKE, BETA SUBUNIT; FARSLB;; PHERSB Asterisk 609691 FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 3; FHOD3 FH1/FH2 DOMAIN-CONTAINING PROTEIN 2; FHOS2;; KIAA1695 Asterisk 609692 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 2; WIPF2 WASP-INTERACTING PROTEIN-RELATED PROTEIN; WIRE;; WIP-RELATED PROTEIN;; WIP- AND CR16-HOMOLOGOUS PROTEIN; WICH Asterisk 609693 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 7; VWA7 CHROMOSOME 6 OPEN READING FRAME 27; C6ORF27;; G7C Asterisk 609694 GEM-INTERACTING PROTEIN; GMIP Asterisk 609695 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; HPD 4-HYDROXYPHENYLPYRUVIC ACID OXIDASE Asterisk 609696 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 4B; ARID4B ARID-CONTAINING PROTEIN 4B;; SIN3A-ASSOCIATED PROTEIN, 180-KD; SAP180;; RETINOBLASTOMA-BINDING PROTEIN 1-LIKE PROTEIN 1; RBP1L1;; RBBP1-LIKE PROTEIN 1; RBBP1L1;; BREAST CANCER-ASSOCIATED ANTIGEN 1; BRCAA1 Asterisk 609697 SIN3A-ASSOCIATED PROTEIN, 130-KD; SAP130 Number Sign 609698 THYROID HORMONE METABOLISM, ABNORMAL; THMA Asterisk 609699 MONOGLYCERIDE LIPASE; MGLL MGL;; MONOACYLGLYCEROL LIPASE; MAGL;; HUK5 Asterisk 609700 RAB GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RABGEF1 RABAPTIN 5-ASSOCIATED EXCHANGE FACTOR FOR RAB5; RABEX5 Asterisk 609701 N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU N-ACETYL-ALPHA-D-GLUCOSAMINIDASE;; N-ACETYL-ALPHA-GLUCOSAMINIDASE Asterisk 609702 PROTEASOME ASSEMBLY CHAPERONE 2; PSMG2 PAC2;; TNFSF5-INDUCED PROTEIN 1; TNFSF5IP1;; HEPATOCELLULAR CARCINOMA-ASSOCIATED PROTEIN 3; HCCA3;; CD40 LIGAND-ACTIVATED SPECIFIC TRANSCRIPT 3; CLAST3 Asterisk 609703 MICRO RNA 15A; MIR15A miRNA15A;; MIRN15A Asterisk 609704 MICRO RNA 16-1; MIR16-1 miRNA16-1;; MIRN16-1 Asterisk 609705 MICRO RNA 24-1; MIR24-1 miRNA24-1;; MIRN24-1 MICRO RNA 189, INCLUDED; miRNA189, INCLUDED; MIR189, INCLUDED Number Sign 609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53 Asterisk 609707 DIHYDROURIDINE SYNTHASE 2-LIKE; DUS2L DIHYDROURIDINE SYNTHASE 2, S. CEREVISIAE, HOMOLOG OF; DUS2 Asterisk 609708 LIPOPROTEIN LIPASE; LPL Asterisk 609709 GLYCOSYLTRANSFERASE-LIKE 1B; GYLTL1B LIKE-GLYCOSYLTRANSFERASE 2;; LARGE2 Asterisk 609710 DENDRITIC CELL-ASSOCIATED NUCLEAR PROTEIN 1; DCANP1 DCNP1;; CHROMOSOME 5 OPEN READING FRAME 20; C5ORF20 Asterisk 609711 UBIQUINOL-CYTOCHROME c REDUCTASE, 6.4-KD SUBUNIT; UQCR Asterisk 609712 PYRUVATE KINASE, LIVER AND RED BLOOD CELL; PKLR PKRL;; PYRUVATE KINASE, LIVER TYPE; PKL;; PYRUVATE KINASE, RED CELL TYPE; PKR;; PYRUVATE KINASE 1; PK1 Asterisk 609713 HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF, B; HUS1B Asterisk 609714 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 1; TREML1 TREM-LIKE PROTEIN 1;; TREM-LIKE TRANSCRIPT 1; TLT1 Asterisk 609715 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 2; TREML2 TREM-LIKE PROTEIN 2;; TREM-LIKE TRANSCRIPT 2; TLT2 Asterisk 609716 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 3; TREML3 TREM-LIKE PROTEIN 3;; TREM-LIKE TRANSCRIPT 3; TLT3 Asterisk 609717 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 4; PCAT4 GENE DIFFERENTIALLY EXPRESSED IN PROSTATE; GDEP Asterisk 609718 LHFP-LIKE PROTEIN 2; LHFPL2 KIAA0206 Asterisk 609719 LHFP-LIKE PROTEIN 3; LHFPL3 LHFPL TETRASPAN SUBFAMILY, MEMBER 3 Asterisk 609720 CRUMBS, DROSOPHILA, HOMOLOG OF, 2; CRB2 Asterisk 609721 POLYCYSTIN 1-LIKE 1; PKD1L1 Asterisk 609722 PDZ AND LIM DOMAIN PROTEIN 2; PDLIM2 MYSTIQUE;; STAT-INTERACTING LIM PROTEIN; SLIM Asterisk 609723 YIPPEE-LIKE 2; YPEL2 Asterisk 609724 YIPPEE-LIKE 3; YPEL3 Asterisk 609725 YIPPEE-LIKE 4; YPEL4 Asterisk 609726 YIPPEE-LIKE 5; YPEL5 Percent 609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Asterisk 609728 METHIONYL-tRNA SYNTHETASE 2; MARS2 METHIONINE tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL METRS Asterisk 609729 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 3; PDZRN3 KIAA1095 Asterisk 609730 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 4; PDZRN4 Asterisk 609731 CYSTATIN 11; CST11 CST8L Asterisk 609732 LIGAND OF NUMB PROTEIN X1; LNX1 LIGAND OF NUMB PROTEIN X; LNX;; PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 2; PDZRN2 Asterisk 609733 LIGAND OF NUMB PROTEIN X2; LNX2 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 1; PDZRN1 Number Sign 609734 OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR; OBAIRH PROOPIOMELANOCORTIN DEFICIENCY Asterisk 609735 RING FINGER AND FYVE-LIKE DOMAIN CONTAINING 1; RFFL RIFIFYLIN Asterisk 609736 COILED-COIL DOMAIN-CONTAINING PROTEIN 88A; CCDC88A HOOK RELATED PROTEIN 1; HKRP1;; GIRDERS OF ACTIN FILAMENT; GIRDIN;; AKT PHOSPHORYLATION ENHANCER; APE;; G-ALPHA-INTERACTING VESICLE-ASSOCIATED PROTEIN; GIV;; KIAA1212 Asterisk 609737 CRUMBS, DROSOPHILA, HOMOLOG OF, 3; CRB3 Asterisk 609738 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 9; IGSF9 KIAA1355 Asterisk 609739 IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 1; ILDR1 Asterisk 609740 PHD FINGER PROTEIN 19; PHF19 Number Sign 609741 CATARACT 22, MULTIPLE TYPES; CTRCT22 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2 Asterisk 609742 INTERLEUKIN 4-INDUCED GENE 1; IL4I1 IL4-INDUCED GENE 1;; FIG1 Asterisk 609743 CELL ADHESION MOLECULE 3; CADM3 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4B; IGSF4B;; TSLC1-LIKE GENE 1; TSLL1;; NECTIN-LIKE PROTEIN 1; NECL1;; SYNAPTIC CELL ADHESION MOLECULE 3; SYNCAM3 Asterisk 609744 CELL ADHESION MOLECULE 4; CADM4 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4C; IGSF4C;; TSLC1-LIKE GENE 2; TSLL2;; NECTIN-LIKE PROTEIN 4; NECL4;; SYNAPTIC CELL ADHESION MOLECULE 4; SYNCAM4 Percent 609745 GLAUCOMA 1, OPEN ANGLE, I; GLC1I Asterisk 609746 RHO GTPase-ACTIVATING PROTEIN 10; ARHGAP10 GTPase-ACTIVATING PROTEIN, RHO, 10;; PSGAP;; GTPase REGULATOR ASSOCIATED WITH FOCAL ADHESION KINASE 2; GRAF2 Asterisk 609747 ACTIN-BINDING RHO-ACTIVATING PROTEIN; ABRA STRIATED MUSCLE ACTIVATOR OF RHO SIGNALING; STARS Asterisk 609748 UBIQUITIN-LIKE 7; UBL7 Asterisk 609749 UDP-GLUCURONATE DECARBOXYLASE 1; UXS1 UGD Percent 609750 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 10 Asterisk 609751 ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1 ACYL-CoA OXIDASE, PALMITOYL, PEROXISOMAL;; ACYL-CoA OXIDASE; ACOX;; PALMITOYL-CoA OXIDASE;; ACYL-CoA OXIDASE, STRAIGHT-CHAIN; SCOX Asterisk 609752 NUCLEAR RECEPTOR COACTIVATOR 7; NCOA7 ERAP140 Number Sign 609753 CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 4 Percent 609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 2 Number Sign 609755 CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 3 Asterisk 609756 CHRNA7/FAM7A FUSION GENE; CHRFAM7A Number Sign 609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME WBS DUPLICATION SYNDROME;; CHROMOSOME 7q11.23 DUPLICATION SYNDROME;; SOMERVILLE-VAN DER AA SYNDROME WBS TRIPLICATION SYNDROME, INCLUDED;; CHROMOSOME 7q11.23 TRIPLICATION SYNDROME, INCLUDED Asterisk 609758 Na+/K+ TRANSPORTING ATPase-INTERACTING 2; NKAIN2 Na+/K+ TRANSPORTING ATPase-INTERACTING PROTEIN 2; NKAIP2;; SODIUM/POTASSIUM TRANSPORTING ATPase-INTERACTING PROTEIN 2;; T-CELL LYMPHOMA BREAKPOINT-ASSOCIATED TARGET 1; TCBA1 TCBA1/SUSP1 FUSION GENE, INCLUDED Asterisk 609759 PR DOMAIN-CONTAINING PROTEIN 7; PRDM7 Asterisk 609760 PR DOMAIN-CONTAINING PROTEIN 9; PRDM9 MEISETZ, MOUSE, HOMOLOG OF; MEISETZ Asterisk 609761 TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP TRIO- AND FILAMENTOUS-ACTIN-BINDING PROTEIN;; TRIO-ASSOCIATED REPEAT ON ACTIN; TARA;; KIAA1662 Asterisk 609762 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOC1S3 BLOC1, SUBUNIT 3; BLOS3;; REDUCED PIGMENTATION, MOUSE, HOMOLOG OF; RP;; HPS8 GENE; HPS8 Asterisk 609763 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, ALPHA; PI4K2A PHOSPHATIDYLINOSITOL 4-KINASE, TYPE II;; PI4KII;; PI4KII-ALPHA Asterisk 609764 LYSINE-SPECIFIC DEMETHYLASE 4A; KDM4A JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A;; JHDM3A;; KIAA0677 Asterisk 609765 LYSINE-SPECIFIC DEMETHYLASE 4B; KDM4B JUMONJI DOMAIN-CONTAINING PROTEIN 2B; JMJD2B;; KIAA0876 Asterisk 609766 LYSINE-SPECIFIC DEMETHYLASE 4D; KDM4D LYSINE DEMETHYLASE 4D;; JUMONJI DOMAIN-CONTAINING PROTEIN 2D; JMJD2D Asterisk 609767 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 28; SLC25A28 MITOFERRIN 2; MFRN2;; MRS3/4;; NPD016;; MRS4L Asterisk 609768 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 2; BLOC1S2 BLOC1, SUBUNIT 2; BLOS2 Asterisk 609769 SHORT CHAIN DEHYDROGENASE/REDUCTASE FAMILY 9C, MEMBER 7; SDR9C7 ORPHAN SHORT-CHAIN DEHYDROGENASE/REDUCTASE; SDRO Asterisk 609770 ADHESION MOLECULE, INTERACTS WITH CXADR ANTIGEN 1; AMICA1 JUNCTIONAL ADHESION MOLECULE-LIKE; JAML Asterisk 609771 UBINUCLEIN 1; UBN1 Asterisk 609772 CORTACTIN-BINDING PROTEIN 2; CTTNBP2 CORTBP2;; KIAA1758 Asterisk 609773 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 2; EID2 E1A-LIKE INHIBITOR OF DIFFERENTIATION 2;; CREBBP/EP300 INHIBITORY PROTEIN 2; CRI2 Asterisk 609774 APOPTOSIS INHIBITOR 5; API5 ANTIAPOPTOSIS CLONE 11; AAC11 Asterisk 609775 YIP1 DOMAIN FAMILY, MEMBER 3; YIPF3 KILLER LINEAGE PROTEIN 1; KLIP1 Asterisk 609776 PROLINE-RICH ACIDIC PROTEIN 1; PRAP1 Asterisk 609777 CARDIOMYOPATHY-ASSOCIATED PROTEIN 1; CMYA1 XIN Asterisk 609778 CARDIOMYOPATHY-ASSOCIATED PROTEIN 3; CMYA3 XIN REPEAT PROTEIN 2; XIRP2;; MYOMAXIN Asterisk 609779 NEVER IN MITOSIS GENE A-RELATED KINASE 11; NEK11 NIMA-RELATED KINASE 11 Asterisk 609780 CARBOXYPEPTIDASE, VITELLOGENIC-LIKE; CPVL HVLP Caret 609781 MOVED TO 100070 Percent 609782 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 2; AAA2 Asterisk 609783 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 5; ITIH5 Asterisk 609784 UPSTREAM BINDING PROTEIN 1; UBP1 LBP1A, INCLUDED;; LBP1B, INCLUDED Asterisk 609785 TRANSCRIPTION FACTOR CP2-LIKE 1; TFCP2L1 CP2-RELATED TRANSCRIPTIONAL REPRESSOR 1; CRTR1;; LBP9 Asterisk 609786 GRAINYHEAD-LIKE 1; GRHL1 GRAINYHEAD, DROSOPHILA, HOMOLOG OF, 1;; MAMMALIAN GRAINYHEAD; MGR;; LBP32 Asterisk 609787 UBIQUITIN-ASSOCIATED PROTEIN 1; UBAP1 UBAP Asterisk 609788 X-RAY RADIATION RESISTANCE-ASSOCIATED 1; XRRA1 Asterisk 609789 AQUAPORIN 12A; AQP12A AQP12;; AQPX2 Percent 609790 ALZHEIMER DISEASE 11 ALZHEIMER DISEASE, FAMILIAL, 11;; AD11 Asterisk 609791 LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 1; LINGO1 LEUCINE-RICH REPEAT NEURONAL PROTEIN 1; LERN1;; LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6A; LRRN6A Asterisk 609792 LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 3; LINGO3 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6B; LRRN6B;; LEUCINE-RICH REPEAT NEURONAL PROTEIN 2; LERN2 Asterisk 609793 LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 2; LINGO2 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6C; LRRN6C;; LEUCINE-RICH REPEAT NEURONAL PROTEIN 3; LERN3 Asterisk 609794 LEUCINE-RICH REPEAT- AND Ig DOMAIN-CONTAINING NOGO RECEPTOR-INTERACTING PROTEIN 4; LINGO4 LEUCINE-RICH REPEAT PROTEIN, NEURONAL, 6D; LRRN6D Asterisk 609795 PYROGLUTAMYLATED RF-AMIDE PEPTIDE PRECURSOR PROTEIN; QRFP QRFP PRECURSOR PROTEIN;; NEUROPEPTIDE RF-AMIDE PEPTIDE PRECURSOR;; P518 PRECURSOR PROTEIN NEUROPEPTIDE RF-AMIDE PEPTIDE, INCLUDED;; P518, INCLUDED;; RF-AMIDE PEPTIDE, 26-AMINO ACID, INCLUDED; 26RFA, INCLUDED;; PYROGLUTAMYLATED RF-AMIDE PEPTIDE, INCLUDED; QRFP, INCLUDED Number Sign 609796 PEELING SKIN SYNDROME 2; PSS2 ACRAL PEELING SKIN SYNDROME; APSS;; PEELING SKIN SYNDROME, ACRAL TYPE Asterisk 609797 BICAUDAL D, DROSOPHILA, HOMOLOG OF, 2; BICD2 KIAA0699 Asterisk 609798 NEVER IN MITOSIS GENE A-RELATED KINASE 9; NEK9 NIMA-RELATED KINASE 9;; NERCC1 Asterisk 609799 NEVER IN MITOSIS GENE A-RELATED KINASE 8; NEK8 NIMA-RELATED KINASE 8;; JCK, MOUSE, HOMOLOG OF;; NEPHROCYSTIN 9; NPHP9 Percent 609800 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4; GEFSP4 GEFS+, TYPE 4; GEFS+4 Asterisk 609801 CD300E ANTIGEN; CD300E CD300 ANTIGEN-LIKE FAMILY, MEMBER E; CD300LE;; IMMUNE RECEPTOR EXPRESSED BY MYELOID CELLS 2; IREM2;; CLM2 Asterisk 609802 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 5; SLC24A5 SODIUM/CALCIUM/POTASSIUM EXCHANGER 5; NCKX5;; JSX Asterisk 609803 ANKYRIN AND ARMADILLO REPEATS-CONTAINING PROTEIN; ANKAR FLJ25415 Asterisk 609804 WD REPEAT-CONTAINING PROTEIN 16; WDR16 WD40 REPEAT-CONTAINING PROTEIN UPREGULATED IN HEPATOCELLULAR CARCINOMA; WDRPUH Asterisk 609805 SPERMATOGENESIS-ASSOCIATED PROTEIN 19; SPATA19 SPERGEN 1 Asterisk 609806 HYDROXYMETHYLBILANE SYNTHASE; HMBS PORPHOBILINOGEN DEAMINASE; PBGD;; PRE-UROPORPHYRINOGEN SYNTHASE;; UROPORPHYRINOGEN I SYNTHASE;; UROPORPHYRINOGEN I SYNTHETASE Asterisk 609807 CD300 ANTIGEN-LIKE FAMILY, MEMBER F; CD300LF CD300F;; IMMUNOGLOBULIN SUPERFAMILY, MEMBER 13; IGSF13;; IMMUNE RECEPTOR EXPRESSED ON MYELOID CELLS 1; IREM1;; CLM1 NULL 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS PCFH Asterisk 609809 LCK-INTERACTING TRANSMEMBRANE ADAPTOR 1; LIME1 LIME Asterisk 609810 PATERNALLY EXPRESSED GENE 10; PEG10 KIAA1051;; EMBRYONAL CARCINOMA DIFFERENTIATION-REGULATED GENE; EDR Asterisk 609811 CYTOCHROME C OXIDASE, SUBUNIT 7B2; COX7B2 CYTOCHROME C OXIDASE, SUBUNIT VIIb2 Number Sign 609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION; MODY8 DIABETES AND PANCREATIC EXOCRINE DYSFUNCTION; DPED;; DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME Number Sign 609813 SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3 Number Sign 609814 COMPLEMENT FACTOR H DEFICIENCY; CFHD FACTOR H DEFICIENCY;; CFH DEFICIENCY Percent 609815 ZYGODACTYLY 1 ZD1 Asterisk 609816 NEUROBEACHIN-LIKE 1; NBEAL1 ALS2 CHROMOSOME REGION GENE 17; ALS2CR17 Percent 609817 VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL Asterisk 609818 UBIQUITIN-SPECIFIC PROTEIN 10; USP10 KIAA0190 Asterisk 609819 PROSTATE, RECTUM, AND COLON GENE 1; PRAC1 SMALL NUCLEAR PROTEIN PRAC Number Sign 609820 ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3 Number Sign 609821 BLEEDING DISORDER, PLATELET-TYPE, 8; BDPLT8 BLEEDING DISORDER DUE TO P2RY12 DEFECT Percent 609822 STATURE QUANTITATIVE TRAIT LOCUS 7; STQTL7 Number Sign 609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 Asterisk 609824 HORMA DOMAIN-CONTAINING 1; HORMAD1 NOHMA Asterisk 609825 COQ2, S. CEREVISIAE, HOMOLOG OF; COQ2 PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL Asterisk 609826 SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 3; SLC34A3 SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE IIC; NPTIIC Asterisk 609827 PELLINO, DROSOPHILA, HOMOLOG OF, 3; PELI3 Asterisk 609828 FIBRONECTIN TYPE III AND SPRY DOMAINS-CONTAINING PROTEIN 1; FSD1 GLFND Asterisk 609829 FSD1 N-TERMINUS-LIKE PROTEIN; FSD1NL FSD1-LIKE PROTEIN; FSD1L;; MID1-RELATED PROTEIN 1; MIR1;; COILED-COIL DOMAIN-CONTAINING PROTEIN 10; CCDC10 Caret 609830 REMOVED FROM DATABASE Asterisk 609831 MMACHC GENE; MMACHC Asterisk 609832 SOLUTE CARRIER FAMILY 47, MEMBER 1; SLC47A1 MULTIDRUG AND TOXIN EXTRUSION PROTEIN 1; MATE1 Asterisk 609833 SOLUTE CARRIER FAMILY 47, MEMBER 2; SLC47A2 MULTIDRUG AND TOXIN EXTRUSION PROTEIN 2; MATE2;; MATE2K Asterisk 609834 SET AND MARINER TRANSPOSASE DOMAINS-CONTAINING PROTEIN; SETMAR METNASE Asterisk 609835 MYCBP-ASSOCIATED PROTEIN; MYCBPAP AMY1-ASSOCIATING PROTEIN 1; AMAP1 Asterisk 609836 PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE 2; PCBD2 DIMERIZATION COFACTOR OF HEPATOCYTE NUCLEAR FACTOR 1-ALPHA 2; DCOH2;; DIMERIZATION COFACTOR OF HEPATOCYTE NUCLEAR FACTOR 1 FROM MUSCLE; DCOHM Asterisk 609837 SMALL NUCLEOLAR RNA, C/D BOX, 115-1; SNORD115-1 RNA, HBII-52 SMALL NUCLEOLAR;; snoRNA, HBII-52;; MBII-52, MOUSE, HOMOLOG OF Asterisk 609838 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 2; SLC24A2 SODIUM/POTASSIUM/CALCIUM EXCHANGER 2; NCKX2;; RETINAL CONE SODIUM/POTASSIUM/CALCIUM EXCHANGER Asterisk 609839 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 3; SLC24A3 SODIUM/POTASSIUM/CALCIUM EXCHANGER 3; NCKX3 Asterisk 609840 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 4; SLC24A4 SODIUM/POTASSIUM/CALCIUM EXCHANGER 4; NCKX4 Asterisk 609841 SOLUTE CARRIER FAMILY 8 (SODIUM/LITHIUM/CALCIUM EXCHANGER), MEMBER B1; SLC8B1 SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 6; SLC24A6;; SODIUM/POTASSIUM/CALCIUM EXCHANGER 6; NCKX6;; NCLX Asterisk 609842 ENHANCER OF mRNA DECAPPING 3, S. CEREVISIAE, HOMOLOG OF; EDC3 YJEF DOMAIN-CONTAINING PROTEIN; YJDC Asterisk 609843 DECAPPING ENZYME 1, S. CEREVISIAE, HOMOLOG OF, B; DCP1B DCP1, S. CEREVISIAE, HOMOLOG OF, B Asterisk 609844 DECAPPING ENZYME 2, S. CEREVISIAE, HOMOLOG OF; DCP2 DCP2, S. CEREVISIAE, HOMOLOG OF;; NUDIX HYDROLASE 20; NUDT20 Asterisk 609845 SUCRASE-ISOMALTASE; SI Asterisk 609846 REGENERATING ISLET-DERIVED FAMILY, MEMBER 4; REG4 REG IV Asterisk 609847 NOTUM, DROSOPHILA, HOMOLOG OF; NOTUM Asterisk 609848 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 11; KCTD11 GENE INDUCED BY RETINOIC ACID, EGF, AND NGF; REN Asterisk 609849 CORONIN 1B; CORO1B CORONIN 2 Asterisk 609850 TBC1 DOMAIN FAMILY, MEMBER 1; TBC1D1 KIAA1108 Asterisk 609851 INOSITOL POLYPHOSPHATE MULTIKINASE; IPMK INOSITOL 1,3,4,5-TETRAKISPHOSPHATE 5-KINASE Asterisk 609852 MIX1 HOMEOBOX-LIKE PROTEIN 1; MIXL1 MIXL;; MIX Asterisk 609853 PHOSPHOPANTOTHENOYLCYSTEINE SYNTHETASE; PPCS Asterisk 609854 PHOSPHOPANTOTHENOYLCYSTEINE DECARBOXYLASE; PPCDC Asterisk 609855 COENZYME A SYNTHASE; COASY PHOSPHOPANTETHEINE ADENYLYLTRANSFERASE/DEPHOSPHOCOENZYME A KINASE;; PPAT/DPCK Asterisk 609856 SPERMATOGENESIS-ASSOCIATED PROTEIN 16; SPATA16 NYD-SP12 Asterisk 609857 DYSTROPHIA MYOTONICA WD REPEAT-CONTAINING PROTEIN; DMWD DMRN9, MOUSE, HOMOLOG OF; DMRN9 Asterisk 609858 ETHANOLAMINE KINASE 1; ETNK1 EKI1 Asterisk 609859 ETHANOLAMINE KINASE 2; ETNK2 EKI2 Asterisk 609860 DAD1-RELATED GENE DADR Asterisk 609861 I-KAPPA-B KINASE-INTERACTING PROTEIN; IKBIP IKIP;; IKK-INTERACTING PROTEIN Asterisk 609862 TRANSMEMBRANE PROTEASE, SERINE 6; TMPRSS6 MATRIPTASE 2 Asterisk 609863 TECTONIC FAMILY, MEMBER 1; TCTN1 TECTONIC 1; TECT1;; TECTONIC Asterisk 609864 TRANSMEMBRANE PROTEIN 55A; TMEM55A PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 4-PHOSPHATASE, TYPE II Asterisk 609865 TRANSMEMBRANE PROTEIN 55B; TMEM55B PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 4-PHOSPHATASE, TYPE I Asterisk 609866 START DOMAIN-CONTAINING PROTEIN 13; STARD13 DELETED IN LIVER CANCER 2; DLC2 Asterisk 609867 UBIQUITIN-LIKE DOMAIN-CONTAINING CTD PHOSPHATASE 1; UBLCP1 Asterisk 609868 SPERMATOGENESIS-ASSOCIATED PROTEIN 7; SPATA7 HSD3 Asterisk 609869 SPERMATOGENESIS-ASSOCIATED PROTEIN 12; SPATA12 SRG5 Asterisk 609870 RHO GTPase-ACTIVATING PROTEIN 21; ARHGAP21 GTPase-ACTIVATING PROTEIN, RHO, 21;; KIAA1424;; RHO GTPase-ACTIVATING PROTEIN 10, FORMERLY; ARHGAP10, FORMERLY Asterisk 609871 TBC1 DOMAIN FAMILY, MEMBER 2; TBC1D2 PARIS1 Asterisk 609872 WAP 4-DISULFIDE CORE DOMAIN 12; WFDC12 WHEY ACIDIC PROTEIN 2; WAP2;; SINGLE WAP MOTIF PROTEIN 2; SWAM2 Asterisk 609873 INTELECTIN 1; ITLN1 INTL;; LACTOFERRIN RECEPTOR; LFR;; HL1 Asterisk 609874 INTELECTIN 2; ITLN2 HL2 Asterisk 609875 ATONAL, DROSOPHILA, HOMOLOG OF, 7; ATOH7 REGULATORY ELEMENT, CIS-ACTING, ENHANCER, 21.7 KB UPSTREAM OF ATOH7, INCLUDED; RECE-ATOH7, INCLUDED Percent 609876 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6; BMND6 Asterisk 609877 CRYSTALLIN, LAMBDA-1; CRYL1 Asterisk 609878 MEDIATOR COMPLEX SUBUNIT 9; MED9 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 9, S. CEREVISIAE, HOMOLOG OF;; MED25;; FLJ10193 Asterisk 609879 SPERMATOGENESIS-ASSOCIATED PROTEIN 4; SPATA4 TESTIS- AND SPERMATOGENESIS CELL-RELATED PROTEIN 2; TSARG2 Asterisk 609880 LYSINE ACETYLTRANSFERASE 7; KAT7 HISTONE ACETYLTRANSFERASE MYST2; MYST2;; HISTONE ACETYLTRANSFERASE BINDING TO ORC1; HBO1 Asterisk 609881 RNA POLYMERASE II POLYPEPTIDE J-RELATED GENE POLR2J2;; RPB11, S. CEREVISIAE, HOMOLOG OF, B Asterisk 609882 METAL-REGULATORY TRANSCRIPTION FACTOR 2; MTF2 METAL RESPONSE ELEMENT-BINDING TRANSCRIPTION FACTOR 2;; PCL2;; M96 Asterisk 609883 MKS1 GENE; MKS1 BBS13 GENE; BBS13;; FLJ20345 Asterisk 609884 TRANSMEMBRANE PROTEIN 67; TMEM67 MKS3 GENE;; MECKELIN Asterisk 609885 ELONGATION FACTOR, RNA POLYMERASE II, 3; ELL3 Number Sign 609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA Number Sign 609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G Percent 609888 LEPROSY, SUSCEPTIBILITY TO, 1; LPRS1 LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1 Number Sign 609889 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY Asterisk 609890 UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 4; UBR4 RETINOBLASTOMA-ASSOCIATED FACTOR 600; RBAF600;; KIAA1307;; p600 Asterisk 609891 RIPPLY TRANSCRIPTIONAL REPRESSOR 2; RIPPLY2 CHROMOSOME 6 OPEN READING FRAME 59; C6ORF59 Asterisk 609892 DOWN SYNDROME CRITICAL REGION GENE 6; DSCR6 RIPPLY3 Percent 609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3 RESISTANCE TO THYROTROPIN; RTSH;; THYROTROPIN RESISTANCE Asterisk 609894 UNC13, C. ELEGANS, HOMOLOG OF, A; UNC13A MUNC13-1;; KIAA1032 Asterisk 609895 CASTOR ZINC FINGER PROTEIN 1; CASZ1 SURVIVAL-RELATED GENE; SRG Asterisk 609896 EUKARYOTIC TRANSLATION INITIATION FACTOR 4E FAMILY, MEMBER 3; EIF4E3 EIF4E FAMILY, MEMBER 3 Asterisk 609897 EPIDERMAL GROWTH FACTOR-LIKE 8; EGFL8 Asterisk 609898 KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 1; KREMEN1 KRM1;; KREMEN Asterisk 609899 KRINGLE DOMAIN-CONTAINING TRANSMEMBRANE PROTEIN 2; KREMEN2 KRM2 Asterisk 609900 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3D; APOBEC3D Asterisk 609901 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 4B; ANKS4B HARMONIN-INTERACTING, ANKYRIN REPEAT-CONTAINING PROTEIN; HARP;; FLJ38819 Caret 609902 MOVED TO 603317 Percent 609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5; SLEB5 Asterisk 609904 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER A; HIST1H2BA HISTONE GENE CLUSTER 1, H2BA;; HIST1 CLUSTER, H2BA;; H2B HISTONE FAMILY, MEMBER U; H2BFU;; TESTIS-SPECIFIC HISTONE H2B; TSH2B Asterisk 609905 MYOSIN LIGHT CHAIN 9, REGULATORY; MYL9 MLC2 Asterisk 609906 EMBRYONAL FYN-ASSOCIATED SUBSTRATE; EFS SRC-INTERACTING PROTEIN; SIN Asterisk 609907 SEMAPHORIN 3D; SEMA3D Asterisk 609908 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 4; APOBEC4 Number Sign 609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P Asterisk 609910 MYCBP-ASSOCIATED TESTIS-EXPRESSED PROTEIN 1; MAATS1 AMY1-ASSOCIATED PROTEIN EXPRESSED IN TESTIS 1; AAT1;; CHROMOSOME 3 OPEN READING FRAME 15; C3ORF15 Asterisk 609911 HEPATOCELLULAR CARCINOMA-DOWNREGULATED MITOCHONDRIAL CARRIER PROTEIN HDMCP;; CHROMOSOME 14 OPEN READING FRAME 68; C14ORF68 Asterisk 609912 LYSINE ACETYLTRANSFERASE 8; KAT8 HISTONE ACETYLTRANSFERASE MYST1; MYST1;; MOF, DROSOPHILA, HOMOLOG OF; MOF Percent 609913 RETINITIS PIGMENTOSA 32; RP32 Asterisk 609914 AQUAPORIN 11; AQP11 AQPX1 Percent 609915 CARDIOMYOPATHY, DILATED, 1Q; CMD1Q Asterisk 609916 5-AZACYTIDINE-INDUCED GENE 2, MOUSE, HOMOLOG OF; AZI2 AZI2, MOUSE, HOMOLOG OF; AZ2;; NAK-ASSOCIATED PROTEIN 1; NAP1;; TILP Asterisk 609917 PRION PROTEIN-INTERACTING PROTEIN; PRNPIP PRION INTERACTOR 1; PINT1 Percent 609918 GALLBLADDER DISEASE 2; GBD2 Percent 609919 GALLBLADDER DISEASE 3; GBD3 Asterisk 609920 CADHERIN 22; CDH22 CADHERIN, PITUITARY AND BRAIN;; PB-CADHERIN Asterisk 609921 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 10; LRP10 LRP9 Asterisk 609922 EH DOMAIN-BINDING PROTEIN 1; EHBP1 KIAA0903 Number Sign 609923 RETINITIS PIGMENTOSA 31; RP31 Number Sign 609924 AMINOACYLASE 1 DEFICIENCY; ACY1D Asterisk 609925 DIPEPTIDASE 2; DPEP2 MEMBRANE-BOUND DIPEPTIDASE 2; MBD2 Asterisk 609926 DIPEPTIDASE 3; DPEP3 MEMBRANE-BOUND DIPEPTIDASE 3; MBD3 Asterisk 609927 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, A; VPS37A HEPATOCELLULAR CARCINOMA-RELATED PROTEIN 1; HCRP1 Asterisk 609928 MYOSIN, HEAVY CHAIN 7B, CARDIAC MUSCLE, BETA; MYH7B MYOSIN HEAVY CHAIN 14; MYH14;; KIAA1512 Asterisk 609929 MYOSIN, HEAVY CHAIN 15; MYH15 Asterisk 609930 MYOSIN, LIGHT CHAIN 6B, ALKALI, SMOOTH MUSCLE AND NONMUSCLE, SLOW; MYL6B MYOSIN, LIGHT CHAIN 1, SLOW, A; MLC1SA Asterisk 609931 MYOSIN LIGHT CHAIN 6, ALKALI, SMOOTH MUSCLE AND NONMUSCLE; MYL6 Asterisk 609932 SPERM ACROSOME-ASSOCIATED PROTEIN 4; SPACA4 SPERM ACROSOMAL MEMBRANE PROTEIN 14; SAMP14 Asterisk 609933 REGENERATING ISLET-DERIVED 3-GAMMA; REG3G REG III;; PAP IB Asterisk 609934 EARLY B-CELL FACTOR 2; EBF2 Asterisk 609935 EARLY B-CELL FACTOR 4; EBF4 KIAA1442 Asterisk 609936 SPINDLIN 1; SPIN1 SPINDLIN; SPIN Asterisk 609937 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7; CDCA7 JPO1 Asterisk 609938 CELL ADHESION MOLECULE 2; CADM2 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4D; IGSF4D;; SYNAPTIC CELL ADHESION MOLECULE 2; SYNCAM2;; NECTIN-LIKE PROTEIN 3; NECL3 Percent 609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6 Caret 609940 MOVED TO 112250 Percent 609941 DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51 Number Sign 609942 NOONAN SYNDROME 3; NS3 Caret 609943 MOVED TO 135900 NULL 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES NULL 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA Percent 609946 DEAFNESS, AUTOSOMAL RECESSIVE 47; DFNB47 Asterisk 609947 KIAA0391 GENE; KIAA0391 MITOCHONDRIAL RIBONUCLEASE P PROTEIN 3; MRPP3 Asterisk 609948 RING FINGER PROTEIN 216; RNF216 TRIAD DOMAIN-CONTAINING PROTEIN 3; TRIAD3;; ZINC FINGER PROTEIN INHIBITING NFKB; ZIN Asterisk 609949 COMPLEMENT COMPONENT 5a RECEPTOR 2; C5AR2 G PROTEIN-COUPLED RECEPTOR 77; GPR77;; C5L2 Asterisk 609950 RAVER1, MOUSE, HOMOLOG OF RAVER1;; KIAA1978 Asterisk 609951 ZINC FINGER PROTEIN 384; ZNF384 CAS-INTERACTING ZINC FINGER PROTEIN; CIZ;; CAGH1;; NUCLEAR MATRIX PROTEIN 4; NMP4 Percent 609952 DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55 Asterisk 609953 RAVER2, MOUSE, HOMOLOG OF RAVER2;; KIAA1579 Percent 609954 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4; ASPG4 Percent 609955 FIBROMATOSIS, GINGIVAL, 3; GINGF3 GGF3;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 3; HGF3 Asterisk 609956 RAS-ASSOCIATED PROTEIN RAB37; RAB37 Asterisk 609957 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1J; PPM1J PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1J;; PROTEIN PHOSPHATASE 2C, ZETA ISOFORM; PP2CZ;; PPP2CZ Percent 609958 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 ASRT3 Asterisk 609959 MYELOID-ASSOCIATED DIFFERENTIATION MARKER; MYADM Asterisk 609960 KIAA0020 GENE; KIAA0020 MINOR HISTOCOMPATIBILITY ANTIGEN HA-8;; HLA-HA8 Asterisk 609961 MINOR HISTOCOMPATIBILITY ANTIGEN HB-1 HLA-HB1 Asterisk 609962 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER E; CLEC4E MACROPHAGE-INDUCIBLE C-TYPE LECTIN; MINCLE Asterisk 609963 CHONDROITIN SULFATE SYNTHASE 3; CHSY3 CSS3;; CARBOHYDRATE SYNTHASE 2 Asterisk 609964 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER D; CLEC4D LECTIN, C-TYPE, SUPERFAMILY MEMBER 8; CLECSF8;; CLEC6;; MACROPHAGE C-TYPE LECTIN; MCL;; DECTIN 3 Percent 609965 DEAFNESS, AUTOSOMAL DOMINANT 53; DFNA53 Asterisk 609966 GAMETOGENETIN, MOUSE, HOMOLOG OF; GGN Asterisk 609967 B-CELL NOVEL PROTEIN 1 BCNP1 Number Sign 609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 Asterisk 609969 SUPRABASIN SBSN Asterisk 609970 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 2; HES2 Asterisk 609971 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 3; HES3 Asterisk 609972 ACYL-CoA THIOESTERASE 2; ACOT2 PEROXISOMAL LONG-CHAIN ACYL-CoA THIOESTERASE; PTE2;; MTE1;; PTE1A, MOUSE, HOMOLOG OF Asterisk 609973 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 3; HCN3 KIAA1535 Asterisk 609974 CADHERIN 9; CDH9 T1-CADHERIN Number Sign 609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4 Asterisk 609976 HYPOXIA-INDUCIBLE FACTOR 3, ALPHA SUBUNIT; HIF3A HIF3-ALPHA;; INHIBITORY PAS DOMAIN PROTEIN; IPAS Asterisk 609977 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 8; CDCA8 DASRA B;; BOREALIN Asterisk 609978 CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2; CADPS2 KIAA1591 Asterisk 609979 VESTIGIAL-LIKE 2; VGLL2 VGL2;; VESTIGIAL- AND TONDU-RELATED PROTEIN 1; VITO1 Asterisk 609980 VESTIGIAL-LIKE 3; VGLL3 VGL3 Number Sign 609981 IMMUNODEFICIENCY 54; IMD54 NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT; NKGCD;; NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED; NKCD Asterisk 609982 VACUOLAR PROTEIN SORTING 4, YEAST, HOMOLOG OF, A; VPS4A VPS4 Asterisk 609983 VACUOLAR PROTEIN SORTING 4, S. CEREVISIAE, HOMOLOG OF, B; VPS4B SKD1, MOUSE, HOMOLOG OF; SKD1 Asterisk 609984 ZWILCH, DROSOPHILA, HOMOLOG OF; ZWILCH Percent 609985 PANIC DISORDER 3 PAND3;; PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 4q-RELATED Asterisk 609986 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 6; CARD6 CARD-CONTAINING INHIBITOR OF NOD1- AND CARDIAK-INDUCED NFKB ACTIVATION 1, INCLUDED; CINCIN1, INCLUDED Asterisk 609987 STIMULATED BY RETINOIC ACID 8; STRA8 Asterisk 609988 PYROPHOSPHATASE, INORGANIC, 2; PPA2 Percent 609989 METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES, NORMAL HAIR, AND NORMAL HANDS CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES WITHOUT ALOPECIA OR BRACHYDACTYLY Percent 609990 TRICHOSCYPHODYSPLASIA METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES AND ALOPECIA;; METAPHYSEAL CHONDRODYSPLASIA WITH ECTODERMAL DYSPLASIA;; CUPPED METAPHYSES AND CONE-SHAPED EPIPHYSES WITH ALOPECIA Asterisk 609991 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; FNDC1 ACTIVATOR OF G PROTEIN SIGNALING 8; AGS8;; KIAA1866 Asterisk 609992 PROCESSING OF PRECURSOR 5, S. CEREVISIAE, HOMOLOG OF; POP5 HSPC004 Percent 609993 OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE SCLEROSING DYSPLASIA OF BONE WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE Percent 609994 MYOPIA 11, AUTOSOMAL DOMINANT; MYP11 Percent 609995 MYOPIA 12, AUTOSOMAL DOMINANT; MYP12 Asterisk 609996 COLLAGEN, TYPE XXVIII, ALPHA-1; COL28A1 Asterisk 609997 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 2; HINT2 Asterisk 609998 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 3; HINT3 Asterisk 609999 SYNAPSE DIFFERENTIATION-INDUCED GENE 1-LIKE; SYNDIG1L TRANSMEMBRANE PROTEIN 90A; TMEM90A;; CAUDATE- AND PUTAMEN-ENRICHED GENE; CAPUCIN Asterisk 610000 CENTROSOMAL PROTEIN, 55-KD; CEP55 NULL 610001 ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY DEATH Asterisk 610002 COLLAGEN, TYPE XXI, ALPHA-1; COL21A1 Number Sign 610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT NORTHERN EPILEPSY;; EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION; EPMR Asterisk 610004 COLLAGEN, TYPE XXV, ALPHA-1; COL25A1 COLLAGEN-LIKE ALZHEIMER AMYLOID PLAQUE COMPONENT PRECURSOR;; CLAC PRECURSOR; CLACP COLLAGEN-LIKE ALZHEIMER AMYLOID PLAQUE COMPONENT, INCLUDED; CLAC, INCLUDED Asterisk 610005 TRAF2- AND NCK-INTERACTING KINASE; TNIK KIAA0551 Number Sign 610006 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY 2-METHYLBUTYRYL GLYCINURIA;; SHORT/BRANCHED-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; SBCADD Asterisk 610007 LIMB REGION 1 HOMOLOG-LIKE; LMBR1L LIPOCALIN-INTERACTING MEMBRANE RECEPTOR; LIMR;; KIAA1174 Asterisk 610008 ARYLSULFATASE G; ARSG KIAA1001 Asterisk 610009 ARYLSULFATASE I; ARSI Asterisk 610010 ARYLSULFATASE J; ARSJ Asterisk 610011 ARYLSULFATASE K; ARSK Asterisk 610012 SULFATASE 1; SULF1 KIAA1077 Asterisk 610013 SULFATASE 2; SULF2 KIAA1247 Asterisk 610014 TM2 DOMAIN-CONTAINING PROTEIN 3; TM2D3 BBP-LIKE PROTEIN 2; BLP2 Number Sign 610015 GLUTAMINE DEFICIENCY, CONGENITAL GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC Asterisk 610016 MICRO RNA 132; MIR132 miRNA132;; MIRN132;; MIR132-3p MICRO RNA 132*, INCLUDED; MIR132*, INCLUDED;; MICRO RNA 132-5p, INCLUDED; MIR132-5p, INCLUDED Number Sign 610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2 Asterisk 610018 SOLO GENE SOLO;; FLJ10357 Number Sign 610019 CATARACT 18; CTRCT18 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2; CATC2 Asterisk 610020 TBC1 DOMAIN FAMILY, MEMBER 10A; TBC1D10A EPI64 Number Sign 610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 HYPERINSULINEMIC HYPOGLYCEMIA, EXERCISE-INDUCED Asterisk 610022 MYOSIN VC; MYO5C NULL 610023 BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS Number Sign 610024 RETINAL CONE DYSTROPHY 3A; RCD3A CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, PDE6H-RELATED ACHROMATOPSIA 6, INCLUDED; ACHM6, INCLUDED Asterisk 610025 COLLAGEN, TYPE XXIV, ALPHA-1; COL24A1 Asterisk 610026 COLLAGEN, TYPE XXII, ALPHA-1; COL22A1 Asterisk 610027 VACUOLAR PROTEIN SORTING 26, YEAST, HOMOLOG OF, B; VPS26B Asterisk 610028 POLY(ADP-RIBOSE) POLYMERASE 14; PARP14 KIAA1268;; B-AGGRESSIVE LYMPHOMA 2; BAL2;; COLLABORATOR OF STAT6; COAST6 Asterisk 610029 VOLTAGE-DEPENDENT ANION CHANNEL 3; VDAC3 Asterisk 610030 VOLTAGE-DEPENDENT ANION CHANNEL 4; VDAC4 Number Sign 610031 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA Asterisk 610032 TRANSPORTIN 3; TNPO3 TRANSPORTIN-SR; TRNSR Asterisk 610033 PENTA-EF-HAND DOMAIN-CONTAINING PROTEIN 1; PEF1 PEFLIN Asterisk 610034 VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, A; VPS33A Asterisk 610035 VACUOLAR PROTEIN SORTING 45, YEAST, HOMOLOG OF; VPS45 VACUOLAR PROTEIN SORTING 45, YEAST, HOMOLOG OF, A; VPS45A Asterisk 610036 CLAUDIN 19; CLDN19 Asterisk 610037 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, B; VPS37B Asterisk 610038 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, C; VPS37C Asterisk 610039 VACUOLAR PROTEIN SORTING 37, YEAST, HOMOLOG OF, D; VPS37D WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 24; WBSCR24 Asterisk 610040 MYOSIN IIIB; MYO3B Asterisk 610041 NEDD4 FAMILY-INTERACTING PROTEIN 2; NDFIP2 NEDD4 WW DOMAIN-BINDING PROTEIN 5A; N4WBP5A;; KIAA1165 Number Sign 610042 PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME; CDFES Asterisk 610043 COLLAGEN, TYPE XXIII, ALPHA-1; COL23A1 Asterisk 610044 POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 2; KCNT2 SLICK Asterisk 610045 ALDEHYDE DEHYDROGENASE 5 FAMILY, MEMBER A1; ALDH5A1 SUCCINIC SEMIALDEHYDE DEHYDROGENASE, NAD(+)-DEPENDENT; SSADH Asterisk 610046 LAEVERIN; LVRN FLJ90650;; CHL2 ANTIGEN;; AMINOPEPTIDASE Q; APQ;; TRANSMEMBRANE AMINOPEPTIDASE Q; TAQPEP Asterisk 610047 CANOPY FGF SIGNALING REGULATOR 4; CNPY4 CANOPY 4, ZEBRAFISH, HOMOLOG OF;; PROTEIN ASSOCIATED WITH TLR4; PRAT4B;; MGC40499 Number Sign 610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD CONGENITAL STROMAL CORNEAL DYSTROPHY Asterisk 610049 SAP DOMAIN-CONTAINING RIBONUCLEOPROTEIN; SARNP CYTOKINE-INDUCED PROTEIN, 29-KD; CIP29;; HEPATOCELLULAR CARCINOMA 1; HCC1;; HSPC316 CIP29/MLL FUSION GENE, INCLUDED Asterisk 610050 TRANSMEMBRANE PROTEASE, SERINE 13; TMPRSS13 MOSAIC SERINE PROTEASE LONG; MSPL MOSAIC SERINE PROTEASE SHORT, INCLUDED; MSPS, INCLUDED Asterisk 610051 CHMP FAMILY, MEMBER 4A; CHMP4A CHROMATIN-MODIFYING PROTEIN 4A;; CHARGED MULTIVESICULAR BODY PROTEIN 4A;; CHMP4;; SNF7, YEAST, HOMOLOG OF, 1;; SNF7-1;; HSPC134 Asterisk 610052 VACUOLAR PROTEIN SORTING 24, YEAST, HOMOLOG OF; VPS24 CHMP FAMILY, MEMBER 3; CHMP3;; CHARGED MULTIVESICULAR BODY PROTEIN 3;; CHROMATIN-MODIFYING PROTEIN 3;; NEUROENDOCRINE DIFFERENTIATION FACTOR; NEDF Asterisk 610053 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 6; TUBGCP6 GCP6;; KIAA1669 Asterisk 610054 H2A HISTONE FAMILY, MEMBER Y; H2AFY MACRO H2A;; MACRO H2A1;; MH2A1 Asterisk 610055 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 1A; CC2D1A Asterisk 610056 SPERM-ASSOCIATED ANTIGEN 7; SPAG7 Asterisk 610057 TRANS-2,3-ENOYL-CoA REDUCTASE; TECR GLYCOPROTEIN, SYNAPTIC, 2; GPSN2;; TER;; SC2 Asterisk 610058 TUBULIN-SPECIFIC CHAPERONE A; TBCA CHAPERONIN COFACTOR A Asterisk 610059 MITOCHONDRIAL RIBOSOMAL PROTEIN L33; MRPL33 Asterisk 610060 POLYMERASE I, RNA, SUBUNIT C; POLR1C RPA39;; RPA40;; RPAC1;; RPA5 Asterisk 610061 DYNEIN, AXONEMAL, HEAVY CHAIN 7; DNAH7 KIAA0944 Asterisk 610062 DYNEIN, AXONEMAL, LIGHT CHAIN 1; DNAL1 CHROMOSOME 14 OPEN READING FRAME 168; C14ORF168 Asterisk 610063 DYNEIN, AXONEMAL, HEAVY CHAIN 17; DNAH17 DNEL2 Percent 610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1 ODS1 Percent 610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7; SLEB7 Percent 610066 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8; SLEB8 Asterisk 610067 MYOSIN XVIIIA; MYO18A SURFACTANT PROTEIN A RECEPTOR, 210-KD; SPR210 MYO18A/PDGFRB FUSION GENE, INCLUDED Asterisk 610068 SOLUTE CARRIER FAMILY 26 (ANION TRANSPORTER), MEMBER 6: SLC26A6 Number Sign 610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 Asterisk 610070 ASTER-ASSOCIATED PROTEIN ASAP Percent 610071 HYPERPARATHYROIDISM 3; HRPT3 Asterisk 610072 ERMIN; ERMN JUXTANODIN; JN;; KIAA1189 Asterisk 610073 ORM1-LIKE PROTEIN 1; ORMDL1 Asterisk 610074 ORM1-LIKE PROTEIN 2; ORMDL2 Asterisk 610075 ORM1-LIKE PROTEIN 3; ORMDL3 Asterisk 610076 CYCLIN-DEPENDENT KINASE 20; CDK20 CELL CYCLE-RELATED KINASE; CCRK;; CYCLIN-DEPENDENT PROTEIN KINASE H; CDCH;; p42 Asterisk 610077 REGULATOR OF CELL CYCLE; RGCC RESPONSE GENE TO COMPLEMENT 32; RGC32;; CHROMOSOME 13 OPEN READING FRAME 15; C13ORF15 Asterisk 610078 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 3; MORC3 NUCLEAR MATRIX PROTEIN 2; NXP2 Asterisk 610079 SIALIC ACID ACETYLESTERASE; SIAE SIALIC ACID ACETYLESTERASE, LYSOSOMAL, INCLUDED; LSE, INCLUDED;; SIALIC ACID ACETYLESTERASE, CYTOSOLIC, INCLUDED; CSE, INCLUDED Asterisk 610080 TM2 DOMAIN-CONTAINING PROTEIN 1; TM2D1 BETA-AMYLOID PEPTIDE-BINDING PROTEIN; BBP Asterisk 610081 TM2 DOMAIN-CONTAINING PROTEIN 2; TM2D2 BBP-LIKE PROTEIN 1; BLP1 Asterisk 610082 MYOSIN REGULATORY LIGHT CHAIN-INTERACTING PROTEIN; MYLIP MIR;; INDUCIBLE DEGRADER OF THE LOW DENSITY LIPOPROTEIN RECEPTOR; IDOL Asterisk 610083 TENEURIN TRANSMEMBRANE PROTEIN 3; TENM3 ODZ, DROSOPHILA, HOMOLOG OF, 3; ODZ3;; TENASCIN M3; TNM3;; KIAA1455 Asterisk 610084 TENEURIN TRANSMEMBRANE PROTEIN 4; TENM4 ODZ, DROSOPHILA, HOMOLOG OF, 4; ODZ4;; TENASCIN M4; TNM4;; DOC4;; KIAA1302 Asterisk 610085 FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A CHROMOSOME 8 OPEN READING FRAME 13; C8ORF13 Asterisk 610086 PROTEIN ARGININE METHYLTRANSFERASE 8; PRMT8 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN METHYLTRANSFERASE 1-LIKE 3; HRMT1L3;; HRMT1L4 Asterisk 610087 PROTEIN ARGININE N-METHYLTRANSFERASE 7; PRMT7 KIAA1933 Asterisk 610088 OLFACTOMEDIN-LIKE 3; OLFML3 OLFACTOMEDIN, 44-KD; OLF44 Asterisk 610089 RAD50-INTERACTING PROTEIN 1; RINT1 Number Sign 610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY; PNPOD PNPO DEFICIENCY;; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE;; EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED Asterisk 610091 WD REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; WSB1 SOCS BOX AND WB REPEATS IN PROTEIN 1; SWIP1 Number Sign 610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED Number Sign 610093 MICROPHTHALMIA, ISOLATED 2; MCOP2 ANOPHTHALMIA, CLINICAL, ISOLATED Asterisk 610094 DEF6, MOUSE, HOMOLOG OF; DEF6 IRF4-BINDING PROTEIN; IBP;; SWAP70-LIKE ADAPTOR OF T CELLS; SLAT Asterisk 610095 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC TAIL, 3; KIR3DL3 KIRC1;; KIR3DL7;; KIR44;; CD158Z Asterisk 610096 T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 4; TIMD4 TIM4;; SMUCKLER Asterisk 610097 OUTER DENSE FIBER OF SPERM TAILS 4; ODF4 OPPO1 Asterisk 610098 MINICHROMOSOME MAINTENANCE COMPLEX COMPONENT 9; MCM9 MINICHROMOSOME MAINTENANCE DEFICIENT DOMAIN CONTAINING 1; MCMDC1 Percent 610099 MYOPATHY, DISTAL, 3; MPD3 Number Sign 610100 GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT; GAN2 Asterisk 610101 CUTC COPPER TRANSPORTER, E. COLI, HOMOLOG OF; CUTC COPPER TRANSPORTER PROTEIN CUTC Number Sign 610102 COMPLEMENT COMPONENT 7 DEFICIENCY; C7D C7 DEFICIENCY Asterisk 610103 S100 CALCIUM-BINDING PROTEIN, ZETA; S100Z Asterisk 610104 MICRO RNA 125B1; MIR125B1 miRNA125B1;; MIRN125B1 Asterisk 610105 MICRO RNA 125B2; MIR125B2 MIRN125B2;; miRNA125B2 Asterisk 610106 DREBRIN-LIKE; DBNL HPK1-INTERACTING PROTEIN, 55-KD; HIP55 Asterisk 610107 O-SIALOGLYCOPROTEIN ENDOPEPTIDASE; OSGEP KAE1;; TSC3;; FLJ20411 Asterisk 610108 ANOCTAMIN 1, CALCIUM-ACTIVATED CHLORIDE CHANNEL; ANO1 TRANSMEMBRANE PROTEIN 16A; TMEM16A Asterisk 610109 ANOCTAMIN 2; ANO2 TRANSMEMBRANE PROTEIN 16B; TMEM16B;; CHROMOSOME 12 OPEN READING FRAME 3; C12ORF3 Asterisk 610110 ANOCTAMIN 3; ANO3 TRANSMEMBRANE PROTEIN 16C; TMEM16C;; CHROMOSOME 11 OPEN READING FRAME 25; C11ORF25 Asterisk 610111 ANOCTAMIN 4; ANO4 TRANSMEMBRANE PROTEIN 16D; TMEM16D;; FLJ34272 Asterisk 610112 C-MAF-INDUCING PROTEIN CMIP;; KIAA1694 C-MAF-INDUCING PROTEIN, TRUNCATED, INCLUDED; TCMIP, INCLUDED Asterisk 610113 ADAMTS-LIKE 4; ADAMTSL4 THROMBOSPONDIN REPEAT-CONTAINING 1; TSRC1 Percent 610114 STATURE QUANTITATIVE TRAIT LOCUS 8; STQTL8 Asterisk 610115 TRANSMEMBRANE PROTEIN 48; TMEM48 NDC1, S. CEREVISIAE, HOMOLOG OF; NDC1 Asterisk 610116 PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 14; P2RY14 G PROTEIN-COUPLED RECEPTOR 105; GPR105;; KIAA0001 Asterisk 610117 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 11; SLC26A11 Asterisk 610118 G PROTEIN-COUPLED RECEPTOR 33; GPR33 Asterisk 610119 TENEURIN TRANSMEMBRANE PROTEIN 2; TENM2 ODZ, DROSOPHILA, HOMOLOG OF, 2; ODZ2;; TENASCIN M2; TNM2;; KIAA1127 Asterisk 610120 TETRASPANIN 33; TSPAN33 PENUMBRA; PEN Asterisk 610121 5-HYDROXYTRYPTAMINE RECEPTOR 3C; HTR3C SEROTONIN 5-HT-3C RECEPTOR Asterisk 610122 5-HYDROXYTRYPTAMINE RECEPTOR 3D; HTR3D SEROTONIN 5-HT-3D RECEPTOR Asterisk 610123 5-HYDROXYTRYPTAMINE RECEPTOR 3E; HTR3E SEROTONIN 5-HT-3E RECEPTOR Asterisk 610124 CARBOHYDRATE SULFOTRANSFERASE 13; CHST13 CHONDROITIN 4-SULFOTRANSFERASE 3; C4ST3 Number Sign 610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, INCLUDED Caret 610126 MOVED TO 607932 Number Sign 610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT;; NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED Asterisk 610128 CARBOHYDRATE SULFOTRANSFERASE 11; CHST11 CHONDROITIN 4-SULFOTRANSFERASE 1; C4ST1;; C4ST Asterisk 610129 CARBOHYDRATE SULFOTRANSFERASE 12; CHST12 CHONDROITIN 4-SULFOTRANSFERASE 2; C4ST2 Asterisk 610130 SOLUTE CARRIER FAMILY 26 (SULFATE TRANSPORTER), MEMBER 1; SLC26A1 SULFATE ANION TRANSPORTER 1; SAT1 Number Sign 610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 4 Asterisk 610132 VANG-LIKE 1; VANGL1 VAN GOGH, DROSOPHILA, HOMOLOG OF, 1;; STRABISMUS, DROSOPHILA, HOMOLOG OF, 2; STB2; STBM2 Asterisk 610133 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 3; ST6GALNAC3 ST6GALNAC III;; SIALYLTRANSFERASE 7C; SIAT7C Asterisk 610134 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 5; ST6GALNAC5 ST6GalNAc V;; SIALYLTRANSFERASE 7E; SIAT7E Asterisk 610135 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 6; ST6GALNAC6 ST6GalNAc VI;; SIALYLTRANSFERASE 7F; SIAT7F NULL 610136 DEVRIENDT SYNDROME Asterisk 610137 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 2; ST6GALNAC2 ST6GalNAc II;; SIALYLTRANSFERASE 7B; SIAT7B;; SIALYLTRANSFERASE-LIKE 1; SAITL1 Asterisk 610138 ST6 ALPHA-N-ACETYL-NEURAMINYL-2,3-BETA-GALACTOSYL-1,3-N-ACETYLGALACTOSAMINIDE ALPHA-2,6-SIALYLTRANSFERASE 1; ST6GALNAC1 ST6GalNAc I;; STYI;; SIALYLTRANSFERASE 7A; SIAT7A Asterisk 610139 ST8 ALPHA-N-ACETYL-NEURAMINIDE ALPHA-2,8-SIALYLTRANSFERASE 6; ST8SIA6 ALPHA-2,8-SIALYLTRANSFERASE VI;; ST8SIA VI;; SIALYLTRANSFERASE 8F; SIAT8F Number Sign 610140 HEART-HAND SYNDROME, SLOVENIAN TYPE Percent 610141 QT INTERVAL, VARIATION IN Asterisk 610142 CENTROSOMAL PROTEIN, 290-KD; CEP290 ANTIGEN IDENTIFIED BY MONOCLONAL ANTIBODY 3H11; 3H11AG;; KIAA0373;; NEPHROCYSTIN 6; NPHP6;; BBS14 GENE; BBS14 Percent 610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62 Asterisk 610144 TBC1 DOMAIN FAMILY, MEMBER 3B; TBC1D3B PROSTATE CANCER GENE 17; PRC17 Asterisk 610145 ENDOTHELIN-CONVERTING ENZYME 2; ECE2 KIAA0604 Asterisk 610146 INSULIN-LIKE GROWTH FACTOR II, ANTISENSE; IGF2AS IGF2, ANTISENSE;; PEG8 Asterisk 610147 G PROTEIN-COUPLED BILE ACID RECEPTOR 1; GPBAR1 BG37;; TGR5 Asterisk 610148 BBS10 GENE; BBS10 CHROMOSOME 12 OPEN READING FRAME 58; C12ORF58;; FLJ23560 Number Sign 610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO, INCLUDED;; MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO, INCLUDED Asterisk 610150 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 5; CCT5 CHAPERONIN CONTAINING TCP1, SUBUNIT 5;; CCT-EPSILON; CCTE;; KIAA0098 Asterisk 610151 METHIONYL AMINOPEPTIDASE 1; METAP1 KIAA0094 Asterisk 610152 CENTROMERIC PROTEIN M; CENPM PROLIFERATION-ASSOCIATED NUCLEAR ELEMENT 1; PANE1 Number Sign 610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 Number Sign 610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44 Percent 610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19 Number Sign 610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS MORM SYNDROME NULL 610157 HEAT-SHOCK RNA 1 HSR1 Percent 610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2 FCD1 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET Asterisk 610159 ZINC FINGER PROTEIN 366; ZNF366 DENDRITIC CELL-SPECIFIC TRANSCRIPT; DCSCRIPT Asterisk 610160 ZINC FINGER PROTEIN 367; ZNF367 ZINC FINGER PROTEIN OF FETAL LIVER ERYTHROID CELLS 29; ZFF29 Asterisk 610161 TRANSCRIPTION FACTOR AP2-DELTA; TFAP2D TFAP2BL1 Asterisk 610162 COILED-COIL DOMAIN-CONTAINING PROTEIN 28B; CCDC28B MGC1203 Number Sign 610163 IMMUNODEFICIENCY 25; IMD25 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA Asterisk 610164 MICRO RNA 134; MIRN134 Asterisk 610165 GLYCOSYLTRANSFERASE-LIKE DOMAIN-CONTAINING PROTEIN 1; GTDC1 Asterisk 610166 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 1; IQSEC1 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE PROTEIN, 100-KD; ARFGEP100;; LONER, DROSOPHILA, HOMOLOG OF;; KIAA0763 Asterisk 610167 PHOSPHOHISTIDINE PHOSPHATASE 1; PHPT1 SEX-REGULATED PROTEIN JANUS-A Number Sign 610168 LOEYS-DIETZ SYNDROME 2; LDS2 AORTIC ANEURYSM, FAMILIAL THORACIC 3; AAT3;; MARFAN SYNDROME, TYPE II, FORMERLY Asterisk 610169 INO80 COMPLEX SUBUNIT; INO80 INO80 COMPLEX, CATALYTIC SUBUNIT;; INO80 COMPLEX, SUBUNIT A; INO80A;; INO80 COMPLEX HOMOLOG 1; INOC1;; INO80, S. CEREVISIAE, HOMOLOG OF Percent 610170 KYPHOSCOLIOSIS 1; KYPSC1 Asterisk 610171 CALMODULIN-LIKE 6; CALML6 CALGLANDULIN-LIKE PROTEIN; CAGLP Asterisk 610172 SPERM FLAGELLAR PROTEIN 2; SPEF2 KPL2 GENE; KPL2;; KIAA1770;; FLJ23577 Asterisk 610173 MICRO RNA 10A; MIR10A miRNA10A;; MIRN10A Asterisk 610174 UBIQUITIN DOMAIN-CONTAINING PROTEIN 2; UBTD2 DENDRITIC CELL UBIQUITIN-LIKE PROTEIN; DCUBP;; MGC30022 Asterisk 610175 MICRO RNA 130A; MIR130A miRNA130A;; MIRN130A Asterisk 610176 SECRETOGLOBIN, FAMILY 1C, MEMBER 1; SCGB1C1 RYD5, RAT, HOMOLOG OF; RYD5 Asterisk 610177 APOPTOSIS-ENHANCING NUCLEASE; AEN INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 1; ISG20L1 Asterisk 610178 KIAA0586 GENE; KIAA0586 TALPID 3, CHICKEN, HOMOLOG OF; TALPID3 Asterisk 610179 PHOSPHOLIPASE B1; PLB1 PLB;; FLJ30866 Asterisk 610180 OSTEOCLAST-STIMULATING FACTOR 1; OSTF1 OSF;; SH3P2 Number Sign 610181 AICARDI-GOUTIERES SYNDROME 2; AGS2 Asterisk 610182 PALMDELPHIN; PALMD PARALEMMIN-LIKE; PALML Asterisk 610183 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 6; ZFAND6 AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 6;; PROTEIN ASSOCIATED WITH PRK1; AWP1;; ZINC FINGER A20 DOMAIN-CONTAINING PROTEIN 3; ZA20D3;; A20-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 3 Asterisk 610184 MONOACYLGLYCEROL O-ACYLTRANSFERASE 3; MOGAT3 ACYL-CoA:MONOACYLGLYCEROL ACYLTRANSFERASE 3;; MGAT3 Number Sign 610185 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 Asterisk 610186 UBIQUITIN-SPECIFIC PEPTIDASE 17-LIKE FAMILY MEMBER 2; USP17L2 DEUBIQUITINATING ENZYME 3; DUB3 Number Sign 610187 DIAPHRAGMATIC HERNIA 3; DIH3 Number Sign 610188 JOUBERT SYNDROME 5; JBTS5 Number Sign 610189 SENIOR-LOKEN SYNDROME 6; SLSN6 Asterisk 610190 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8 N-ACETYLGALACTOSAMINE-4-O-SULFOTRANSFERASE 1;; GalNAc4 SULFOTRANSFERASE 1; GalNAc4ST1;; GalNAc4ST Asterisk 610191 CARBOHYDRATE SULFOTRANSFERASE 9; CHST9 N-ACETYLGALACTOSAMINE-4-O-SULFOTRANSFERASE 2;; GalNAc4 SULFOTRANSFERASE 2; GalNAc4ST2 Asterisk 610192 GLIS FAMILY ZINC FINGER PROTEIN 3; GLIS3 GLI-SIMILAR PROTEIN 3;; ZINC FINGER PROTEIN 515; ZNF515 Number Sign 610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 10; ARVC10 Asterisk 610194 BETA-1,3-N-ACETYLGALACTOSAMINYLTRANSFERASE 2; B3GALNT2 UDP-GalNAc:BETA-GLcNAc-BETA-1,3-GALACTOSAMINYLTRANSFERASE, POLYPEPTIDE 2;; B3GalNAc-T2;; MGC39558 Asterisk 610195 PROSTATE TUMOR OVEREXPRESSED GENE 1; PTOV1 ACTIVATOR INTERACTION DOMAIN-CONTAINING PROTEIN 2; ACID2 Asterisk 610196 ELMO/CED12 DOMAIN-CONTAINING PROTEIN 2; ELMOD2 Asterisk 610197 MEDIATOR COMPLEX SUBUNIT 25; MED25 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 25, S. CEREVISIAE, HOMOLOG OF;; PROSTATE TUMOR OVEREXPRESSED GENE 2; PTOV2;; p78;; ACTIVATOR-RECRUITED COFACTOR, 92-KD; ARC92;; ACTIVATOR INTERACTION DOMAIN-CONTAINING PROTEIN 1; ACID1 Number Sign 610198 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5 CARDIOMYOPATHY, DILATED, WITH ATAXIA; DCMA;; MGA, TYPE V; MGA5 Number Sign 610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH NDH SYNDROME Asterisk 610200 MITOCHONDRIAL RIBOSOMAL PROTEIN L13; MRPL13 RIBOSOMAL PROTEIN, MITOCHONDRIAL, L13; RPML13;; L13A Asterisk 610201 CENTROSOMAL PROTEIN, 162-KD; CEP162 KIAA1009;; QN1 Number Sign 610202 CATARACT 21, MULTIPLE TYPES; CTRCT21 CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL, CERULEAN TYPE, 4; CCA4;; CATARACT, PULVERULENT, JUVENILE-ONSET Asterisk 610203 CYSTEINE-RICH INHIBITOR OF PAK1; CRIPAK FLJ34443 Number Sign 610204 PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET Number Sign 610205 ALAGILLE SYNDROME 2; ALGS2 Asterisk 610206 SOLUTE CARRIER FAMILY 4 (SODIUM BORATE COTRANSPORTER), MEMBER 11; SLC4A11 BICARBONATE TRANSPORTER-RELATED PROTEIN 1; BTR1;; SODIUM-COUPLED BORATE COTRANSPORTER 1; NABC1 Asterisk 610207 SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 9; SLC4A9 ANION EXCHANGE PROTEIN 4; AE4 Percent 610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10 MGR10;; MIGRAINE WITH PULSATION Percent 610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11 MGR11 Asterisk 610210 MAF1, S. CEREVISIAE, HOMOLOG OF; MAF1 Asterisk 610211 SRA STEM LOOP-INTERACTING RNA-BINDING PROTEIN; SLIRP CHROMOSOME 14 OPEN READING FRAME 156; C14ORF156 Number Sign 610212 DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66 Percent 610213 ANEURYSM, INTRACRANIAL BERRY, 4; ANIB4 Asterisk 610214 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 3; EDEM3 CHROMOSOME 1 OPEN READING FRAME 22; C1ORF22 Asterisk 610215 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 25; ARHGEF25 RAC- AND CDC42-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR;; GUANINE NUCLEOTIDE EXCHANGE FACTOR GEFT; GEFT;; p63RHOGEF Asterisk 610216 ANOCTAMIN 8; ANO8 TRANSMEMBRANE PROTEIN 16H; TMEM16H;; KIAA1623 Number Sign 610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED;; NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME, INCLUDED Asterisk 610218 SAP30-BINDING PROTEIN; SAP30BP HUMAN TRANSCRIPTION REGULATOR PROTEIN; HTRP;; HCNGP;; HTRG Asterisk 610219 DFNB59 GENE PEJVAKIN; PJVK Number Sign 610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 Asterisk 610221 AKT1 SUBSTRATE 1, PROLINE-RICH; AKT1S1 PROLINE-RICH AKT SUBSTRATE, 40-KD; PRAS40;; MGC2865 Asterisk 610222 RAS AND RAB INTERACTOR 2; RIN2 RAB5-INTERACTING PROTEIN 2;; RAS INHIBITOR JC265 Asterisk 610223 RAS AND RAB INTERACTOR 3; RIN3 RAB5-INTERACTING PROTEIN 3;; FLJ22439 Asterisk 610224 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN 1; SOHLH1 NEWBORN OVARY HELIX-LOOP-HELIX PROTEIN; NOHLH;; TEB2 Asterisk 610225 RIBOSOMAL PROTEIN S19 BINDING PROTEIN 1; RPS19BP1 S19BP;; ACTIVE REGULATOR OF SIRT1; AROS;; MGC52010 Asterisk 610226 ZINC FINGER PROTEIN 750; ZNF750 FLJ13841 Number Sign 610227 SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS Asterisk 610228 CALPAIN 13; CAPN13 FLJ23523 Asterisk 610229 CALPAIN 14; CAPN14 Asterisk 610230 tRNA 5-METHYLAMINOMETHYL-2-THIOURIDYLATE METHYLTRANSFERASE; TRMU TRNT1;; MTO2, S. CEREVISIAE, HOMOLOG OF; MTO2 Asterisk 610231 POLYCOMB GROUP RING FINGER PROTEIN 1; PCGF1 MGC10882;; NERVOUS SYSTEM POLYCOMB 1; NSPC1;; LETHAL(3)73AH, DROSOPHILA, HOMOLOG OF Asterisk 610232 ATPase, TYPE 13A3; ATP13A3 ATPase FAMILY HOMOLOG UPREGULATED IN SENESCENCE CELLS; AFURS1 Caret 610233 MOVED TO 211900 Percent 610234 SYNPOLYDACTYLY 3; SPD3 Asterisk 610235 MITOCHONDRIAL PROTEIN, 18-KD MTP18;; HSPC242 Asterisk 610236 LUNAPARK; LNPK LNP1; LNP;; KIAA1715 Asterisk 610237 MEDIATOR COMPLEX SUBUNIT 30; MED30 THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 25-KD; TRAP25;; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN 6; THRAP6 Asterisk 610238 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 11; SLC5A11 KST1, RABBIT, HOMOLOG OF; KST1;; SODIUM/GLUCOSE TRANSPORTER 6; SGLT6;; SODIUM MYOINOSITOL COTRANSPORTER 2; SMIT2 Percent 610239 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 HDLCQ4 Asterisk 610240 LHFP-LIKE PROTEIN 4; LHFPL4 Asterisk 610241 RING FINGER PROTEIN 32; RNF32 Asterisk 610242 CHROMOSOME 7 OPEN READING FRAME 13; C7ORF13 Asterisk 610243 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27 PROTRUDIN Number Sign 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 Number Sign 610245 SPINOCEREBELLAR ATAXIA 23; SCA23 Number Sign 610246 SPINOCEREBELLAR ATAXIA 28; SCA28 Percent 610247 ESOPHAGITIS, EOSINOPHILIC, 1; EOE1 ESOPHAGITIS, EOSINOPHILIC; EE Percent 610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65 Asterisk 610249 PROTEIN O-FUCOSYLTRANSFERASE 2; POFUT2 CHROMOSOME 21 OPEN READING FRAME 80; C21ORF80;; KIAA0958 Number Sign 610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31 Number Sign 610251 ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED Asterisk 610252 MICRO RNA 1-2; MIR1-2 miRNA1-2;; MIRN1-2 Number Sign 610253 KLEEFSTRA SYNDROME 1; KLEFS1 CHROMOSOME 9q34.3 DELETION SYNDROME;; 9q- SYNDROME;; 9q SUBTELOMERIC DELETION SYNDROME Asterisk 610254 MICRO RNA 133A1; MIR133A1 miRNA133A1;; MIRN133A1 Asterisk 610255 MICRO RNA 133A2; MIR133A2 miRNA133A2;; MIRN133A2 Number Sign 610256 ANTERIOR SEGMENT DYSGENESIS 2; ASGD2 APHAKIA, CONGENITAL PRIMARY; CPAK;; CPA Asterisk 610257 SEC31, YEAST, HOMOLOG OF, A; SEC31A SEC31-LIKE 1; SEC31L1;; KIAA0905 Asterisk 610258 SEC31, YEAST, HOMOLOG OF, B; SEC31B SEC31-LIKE 2; SEC31L2 Asterisk 610259 LONG INTERGENIC NONCODING RNA 163; LINC00163 NONCODING RNA 163; NCRNA00163;; NARCOLEPSY CANDIDATE REGION GENE 1A; NLC1A Percent 610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2; IHPS2 Percent 610261 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5 HYT5;; HYPERTENSION, ESSENTIAL, BODY MASS-RELATED Percent 610262 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6 HYT6;; HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED Asterisk 610263 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 13; DNAJB13 TESTIS SPERMATOGENESIS APOPTOSIS-RELATED PROTEIN 6; TSARG6 Asterisk 610264 TESTIS-PROSTATE-PLACENTA-EXPRESSED PROTEIN; TEPP Number Sign 610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67 Asterisk 610266 TAO KINASE 1; TAOK1 TAO1;; MARK KINASE; MARKK;; PROSTATE-DERIVED STERILE 20-LIKE KINASE 2; PSK2;; KIAA1361 Asterisk 610267 METHIONINE AMINOPEPTIDASE 1D; METAP1D METHIONYL AMINOPEPTIDASE 1D; MAP1D Asterisk 610268 MONOACYLGLYCEROL O-ACYLTRANSFERASE 1; MOGAT1 ACYL-CoA:MONOACYLGLYCEROL ACYLTRANSFERASE 1;; MGAT1;; DIACYLGLYCEROL O-ACYLTRANSFERASE 2 LIKE-1; DGAT2L1 Caret 610269 MOVED TO 607499 AND 606788 Asterisk 610270 MONOACYLGLYCEROL O-ACYLTRANSFERASE 2; MOGAT2 ACYL-CoA:MONOACYLGLYCEROL ACYLTRANSFERASE 2;; MGAT2 Asterisk 610271 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS S PROTEIN; PIGS Asterisk 610272 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS T PROTEIN; PIGT NEURONAL DEVELOPMENT-ASSOCIATED PROTEIN; NDAP Asterisk 610273 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS M PROTEIN; PIGM PIGM MANNOSYLTRANSFERASE Asterisk 610274 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS V PROTEIN; PIGV Asterisk 610275 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS W PROTEIN; PIGW Asterisk 610276 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS X PROTEIN; PIGX Asterisk 610277 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 1; ORAI1 CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 1; CRACM1;; TRANSMEMBRANE PROTEIN 142A; TMEM142A Asterisk 610278 PLATELET ENDOTHELIAL AGGREGATION RECEPTOR 1 PEAR1 Percent 610279 PACHYGYRIA, FRONTOTEMPORAL Asterisk 610280 OSTEOCRIN; OSTN MUSCLIN Asterisk 610281 ZINC FINGER PROTEIN 62; ZFP62 Number Sign 610282 RETINITIS PIGMENTOSA 35; RP35 Number Sign 610283 CONE-ROD DYSTROPHY 10; CORD10 Asterisk 610284 LIPOYLTRANSFERASE 1; LIPT1 Asterisk 610285 DOWNSTREAM OF TYROSINE KINASE 7; DOK7 CHROMOSOME 4 OPEN READING FRAME 25; C4ORF25 Asterisk 610286 LEUCINE CARBOXYL METHYLTRANSFERASE 1; LCMT1 Asterisk 610287 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 15; FBXL15 JETLAG, DROSOPHILA, HOMOLOG OF; JET;; F-BOX ONLY PROTEIN 37 Asterisk 610288 GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 6; GOLGA6 GOLGIN LINKED TO PML; GLP Asterisk 610289 3-OXOACID CoA TRANSFERASE 2; OXCT2 SCOT-T;; FLJ00030 Asterisk 610290 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 12; GALNT12 GalNAc TRANSFERASE 12; GalNAcT12 Asterisk 610291 SYNAPTIC VESICLE GLYCOPROTEIN 2C; SV2C Asterisk 610292 B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1 FLJ20706;; BANK Number Sign 610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; GPID GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1; GPIBD1 Percent 610294 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 INTLQ2 Percent 610295 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3 INTLQ3 Asterisk 610296 NUDC DOMAIN-CONTAINING PROTEIN 3; NUDCD3 KIAA1068;; NUDC-LIKE PROTEIN; NUDCL Number Sign 610297 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13 Asterisk 610298 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 2; PHLDB2 LL5-BETA Asterisk 610299 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 17; SLC6A17 NTT4 Asterisk 610300 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 18; SLC6A18 XTRP2 Asterisk 610301 TRANSMEMBRANE PROTEIN 57; TMEM57 MACOILIN;; FLJ10747 Asterisk 610302 ENDOPLASMIC RETICULUM DEGRADATION-ENHANCING ALPHA-MANNOSIDASE-LIKE PROTEIN 2; EDEM2 Asterisk 610303 V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG A; MAFA RIPE3B1 Asterisk 610304 DER1-LIKE DOMAIN FAMILY, MEMBER 2; DERL2 F-LANa;; DERLIN 2 Asterisk 610305 DER1-LIKE DOMAIN FAMILY, MEMBER 3; DERL3 DERLIN 3 Asterisk 610306 NEPHRONECTIN; NPNT PREOSTEOBLAST EGF-LIKE REPEAT PROTEIN WITH MAM DOMAIN; POEM Asterisk 610307 CERAMIDE KINASE; CERK KIAA1646 Asterisk 610308 BETA-3-GLUCOSYLTRANSFERASE; B3GLCT UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL;; BETA-3-GLYCOSYLTRANSFERASE-LIKE; B3GTL;; BETA-1,3-GLUCOSYLTRANSFERASE Asterisk 610309 UBIQUITIN-CONJUGATING ENZYME E2S; UBE2S EPF5;; E2EPF Asterisk 610310 LOC152586 GENE LOC152586 Asterisk 610311 MEDIATOR COMPLEX SUBUNIT 28; MED28 MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 28, S. CEREVISIAE, HOMOLOG OF;; ENDOTHELIAL-DERIVED GENE 1; EG1;; MERLIN- AND GRB2-INTERACTING CYTOSKELETAL PROTEIN;; MAGICIN Asterisk 610312 PIWI-LIKE 2: PIWIL2 MILI, MOUSE, HOMOLOG OF; MILI Number Sign 610313 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2 Asterisk 610314 PIWI-LIKE 3: PIWIL3 Asterisk 610315 PIWI-LIKE 4; PIWIL4 HIWI2;; MIWI2, MOUSE, HOMOLOG OF; MIWI2 Asterisk 610316 POLYRIBONUCLEOTIDE NUCLEOTIDYLTRANSFERASE 1; PNPT1 OLD35;; PNPase Asterisk 610317 CORDON-BLEU, MOUSE, HOMOLOG OF; COBL KIAA0633 Asterisk 610318 COBL-LIKE PROTEIN 1: COBLL1 COBL-RELATED PROTEIN 1; COBLR1;; KIAA0977 NULL 610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA Percent 610320 MYOPIA 14; MYP14 Percent 610321 PROSTATE CANCER, HEREDITARY, 7; HPC7 PROSTATE CANCER AGGRESSIVENESS Asterisk 610322 TRANSCRIPTIONAL REGULATING FACTOR 1; TRERF1 TRANSCRIPTIONAL REGULATING PROTEIN, 132-KD; TREP132 Asterisk 610323 METADHERIN; MTDH METASTASIS ADHESION PROTEIN;; LYRIC;; ASTROCYTE ELEVATED GENE 1; AEG1 Asterisk 610324 3-OXOACYL-ACP SYNTHASE, MITOCHONDRIAL; OXSM BETA-KETOACYL SYNTHASE, MITOCHONDRIAL; KS Asterisk 610325 NUCLEAR DISTRIBUTION GENE C, A. NIDULANS, HOMOLOG OF; NUDC Asterisk 610326 RIBONUCLEASE H2, SUBUNIT B; RNASEH2B DLEU8;; FLJ11712 Asterisk 610327 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 1; RUFY1 Asterisk 610328 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 2; RUFY2 KIAA1537 Number Sign 610329 AICARDI-GOUTIERES SYNDROME 3; AGS3 Asterisk 610330 RIBONUCLEASE H2, SUBUNIT C; RNASEH2C AYP1;; FLJ20974 Asterisk 610331 HAIRY/ENHANCER OF SPLIT, DROSOPHILA, HOMOLOG OF, 6; HES6 Caret 610332 MOVED TO 608572 Number Sign 610333 AICARDI-GOUTIERES SYNDROME 4; AGS4 Asterisk 610334 HEPATOCELLULAR CARCINOMA-ASSOCIATED ANTIGEN 112 HCA112;; GS188 Asterisk 610335 PHD FINGER PROTEIN 20; PHF20 GLIOMA-EXPRESSED ANTIGEN 2; GLEA2;; HEPATOCELLULAR CARCINOMA-ASSOCIATED ANTIGEN 58; HCA58 Asterisk 610336 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4C; C2CD4C NUCLEAR-LOCALIZED FACTOR 3; NLF3;; KIAA1957 Asterisk 610337 UPREGULATOR OF CELL PROLIFERATION; URGCP HEPATITIS B VIRUS-ENCODED X ANTIGEN-UPREGULATED GENE 4;; HBX ANTIGEN-UPREGULATED GENE 4;; URG4 NULL 610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, WITH VENTRICULAR SEPTAL DEFECT, PATENT FORAMEN OVALE, AND PATENT DUCTUS ARTERIOSUS;; ARPA, FAMILIAL Asterisk 610339 PROLYL 3-HYDROXYLASE 1; P3H1 LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1; LEPRE1;; LEPRECAN;; GROWTH SUPPRESSOR 1; GROS1 Asterisk 610340 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4B; EPB41L4B EXPRESSED IN HIGHLY METASTATIC CELLS 2; EHM2 Asterisk 610341 PROLYL 3-HYDROXYLASE 2; P3H2 LEPRECAN-LIKE 1; LEPREL1 Asterisk 610342 PROLYL 3-HYDROXYLASE 3; P3H3 LEPRECAN-LIKE 2; LEPREL2 Asterisk 610343 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4A; C2CD4A NUCLEAR-LOCALIZED FACTOR 1; NLF1 Asterisk 610344 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 4B; C2CD4B NUCLEAR-LOCALIZED FACTOR 2; NLF2 Asterisk 610345 ACYLGLYCEROL KINASE; AGK MULTISUBSTRATE LIPID KINASE; MULK Asterisk 610346 CDC37-LIKE 1; CDC37L1 CELL DIVISION CYCLE 37, S. CEREVISIAE, HOMOLOG-LIKE 1; CDC37L1;; HSP90-ASSOCIATING RELATIVE OF CDC37; HARC;; FLJ20639 Asterisk 610347 REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING PROTEIN 1A; RPRD1A CYCLIN-DEPENDENT KINASE INHIBITOR 2B-RELATED PROTEIN;; CDKN2B-RELATED PROTEIN;; P15(INK4B)-RELATED PROTEIN;; P15RS;; FLJ10656 Asterisk 610348 FAMILY WITH SEQUENCE SIMILARITY 178, MEMBER A; FAM178A CHROMOSOME 10 OPEN READING FRAME 6; C10ORF6 Asterisk 610349 MEF2-ACTIVATING SAP TRANSCRIPTIONAL REGULATOR; MAMSTR MASTR Asterisk 610350 LINES, DROSOPHILA, HOMOLOG OF; LINS LINES, DROSOPHILA, HOMOLOG OF, 1; LINS1;; WINS1;; FLJ10583 Asterisk 610351 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, ALPHA; PPP4R3A PP4R3-ALPHA; PP4R3A;; SUPPRESSOR OF MEK1, DICTYOSTELIUM, HOMOLOG OF, 1; SMEK1;; MEK1 SUPPRESSOR 1;; KIAA2010 Asterisk 610352 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, BETA; PPP4R3B PP4R3-BETA; PP4R3B;; SUPPRESSOR OF MEK1, DICTYOSTELIUM, HOMOLOG OF, 2; SMEK2;; MEK1 SUPPRESSOR 2;; KIAA1387 Number Sign 610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR SEIZURES, BENIGN FAMILIAL INFANTILE, 6, INCLUDED; BFIS6, INCLUDED;; CONVULSIONS, BENIGN FAMILIAL INFANTILE, 6, INCLUDED; BFIC6, INCLUDED Asterisk 610354 CONNEXIN 43-INTERACTING PROTEIN, 150-KD CIP150;; RIC1, S. CEREVISIAE, HOMOLOG OF; RIC1;; KIAA1432 Asterisk 610355 PARTNER AND LOCALIZER OF BRCA2; PALB2 FANCN GENE; FANCN Number Sign 610356 RETINAL CONE DYSTROPHY 3B; RCD3B CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; CDSRR;; CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED Number Sign 610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 Asterisk 610358 SIGNAL PEPTIDASE COMPLEX, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; SPCS1 SIGNAL PEPTIDASE, 12-KD SUBUNIT; SPC12 Number Sign 610359 RETINITIS PIGMENTOSA 33; RP33 Asterisk 610360 MUCIN 20, CELL SURFACE-ASSOCIATED; MUC20 Percent 610361 OROFACIAL CLEFT 9; OFC9 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 9 Asterisk 610362 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX 2; RAX2 RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; RAXL1;; Q50-TYPE RETINAL HOMEOBOX; QRX Asterisk 610363 PEPTIDYLARGININE DEIMINASE, TYPE VI; PADI6 Asterisk 610364 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 1; TMBIM1 RESPONSIVE TO CENTRIFUGAL FORCE AND SHEAR STRESS 1; RECS1 Asterisk 610365 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 1; C1QTNF1 G PROTEIN-COUPLED RECEPTOR-INTERACTING PROTEIN; GIP Asterisk 610366 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-1 SUBUNIT; AP3M1 CLATHRIN ADAPTOR COMPLEX AP3, MU-3A SUBUNIT Asterisk 610367 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 11; SLC2A11 GLUCOSE TRANSPORTER 11; GLUT11 Asterisk 610368 LEUCINE-RICH REPEATS AND CALPONIN HOMOLOGY DOMAIN-CONTAINING 1; LRCH1 KIAA1016 Asterisk 610369 HEAT-SHOCK 70-KD PROTEIN 14; HSPA14 HSP70-LIKE 1; HSP70L1 Number Sign 610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL; DIAR4 ENTERIC ANENDOCRINOSIS Asterisk 610371 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 7; SLC2A7 GLUCOSE TRANSPORTER 7; GLUT7 Asterisk 610372 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 12; SLC2A12 GLUCOSE TRANSPORTER 12; GLUT12 Asterisk 610373 DEAD/H BOX 50; DDX50 RH-II/GU-BETA; GUB Number Sign 610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 TNDM2 Asterisk 610375 CAPRIN FAMILY, MEMBER 2; CAPRIN2 CYTOPLASMIC ACTIVATION- AND PROLIFERATION-ASSOCIATED PROTEIN 2;; CAPRIN 2;; EEG1;; RNA GRANULE PROTEIN 140; RNG140;; C1q DOMAIN-CONTAINING PROTEIN 1; C1QDC1;; KIAA1873 Asterisk 610376 ATYPICAL CHEMOKINE RECEPTOR 3; ACKR3 CHEMOKINE, CXC MOTIF, RECEPTOR 7; CXCR7;; CHEMOKINE ORPHAN RECEPTOR 1; CMKOR1;; G PROTEIN-COUPLED RECEPTOR 159; GPR159;; RDC1 Number Sign 610377 MEVALONIC ACIDURIA; MEVA Asterisk 610378 GLIS FAMILY ZINC FINGER PROTEIN 1; GLIS1 GLI-SIMILAR PROTEIN 1 Number Sign 610379 WEST NILE VIRUS, SUSCEPTIBILITY TO WNV, SUSCEPTIBILITY TO Caret 610380 MOVED TO 610168 Number Sign 610381 CONE-ROD DYSTROPHY 11; CORD11 Percent 610382 PROSOPAGNOSIA, HEREDITARY FACE BLINDNESS;; PROSOPAGNOSIA, DEVELOPMENTAL;; PROSOPAGNOSIA, CONGENITAL Asterisk 610383 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 9; RASSF9 PEPTIDYLGLYCINE ALPHA-AMIDATING MONOOXYGENASE C-TERMINAL INTERACTOR;; PAMCI;; PAM C-TERMINAL INTERACTOR PROTEIN 1; PCIP1 Asterisk 610384 HECT, C2, AND WW DOMAINS-CONTAINING E3 UBIQUITIN-PROTEIN LIGASE 1; HECW1 NEDD4-LIKE UBIQUITIN-PROTEIN LIGASE 1; NEDL1;; KIAA0322 Asterisk 610385 LR8 PROTEIN; LR8 Asterisk 610386 BTB/POZ DOMAIN-CONTAINING PROTEIN 7; BTBD7 FUP1 Asterisk 610387 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL IRON CARRIER), MEMBER 37; SLC25A37 MITOFERRIN; MFRN;; MFRN1 Asterisk 610388 RRAD- AND GEM-LIKE GTPase 1; REM1 RAS (RAD AND GEM)-LIKE GTP-BINDING PROTEIN 1;; GTPase-REGULATING ENDOTHELIAL CELL-SPROUTING PROTEIN; GES Asterisk 610389 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 2; LAMTOR2 MAPBP-INTERACTING PROTEIN; MAPBPIP;; p14 Asterisk 610390 MACROPHAGE EXPRESSED GENE 1 MPEG1;; MPG1 Asterisk 610391 PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 3; PLPPR3 PLASTICITY-RELATED GENE 2;; LIPID PHOSPHATE PHOSPHATASE-RELATED 3; LPPR3;; LPR3;; PRG2 Asterisk 610392 MYC-BINDING PROTEIN 2; MYCBP2 PROTEIN ASSOCIATED WITH MYC; PAM;; KIAA0916 Asterisk 610393 GON4-LIKE PROTEIN; GON4L KIAA1606 Asterisk 610394 GLIPR1-LIKE PROTEIN 2; GLIPR1L2 Asterisk 610395 GLIPR1-LIKE PROTEIN 1; GLIPR1L1 Asterisk 610396 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6A; TRAPPC6A TRAPP COMPLEX, SUBUNIT 6A Asterisk 610397 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 6B; TRAPPC6B TRAPP COMPLEX, SUBUNIT 6B;; TPC6 Asterisk 610398 SAP30-LIKE PROTEIN; SAP30L Asterisk 610399 TRANSMEMBRANE PROTEASE, SERINE 11E; TMPRSS11E DESC1 Asterisk 610400 MACRO DOMAIN-CONTAINING 1; MACROD1 LRP16 PROTEIN; LRP16 Asterisk 610401 NETRIN 4; NTN4 BETA-NETRIN Caret 610402 MOVED TO 609122 AND 300870 Asterisk 610403 CULLIN-ASSOCIATED NEDDYLATION-DISSOCIATED 2; CAND2 TBP-INTERACTING PROTEIN B; TIP120B;; KIAA0667 Asterisk 610404 RECQ-MEDIATED GENOME INSTABILITY 1; RMI1 RECQ-MEDIATED GENOME INSTABILITY 1, S. CEREVISIAE, HOMOLOG OF;; BLM-ASSOCIATED PROTEIN, 75-KD; BLAP75;; CHROMOSOME 9 OPEN READING FRAME 76; C9ORF76 Asterisk 610405 CHONDROITIN POLYMERIZING FACTOR; CHPF CHONDROITIN SULFATE SYNTHASE 2; CSS2 Asterisk 610406 TRANSFER RNA ARGININE 1; TRNAR1 tRNA ARGININE 1; TRR1 Asterisk 610407 TRANSFER RNA GLYCINE 2; TRNAG2 tRNA GLYCINE 2; TRG2 Asterisk 610408 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 3; SLC15A3 PEPTIDE/HISTIDINE TRANSPORTER 2; PHT2 Asterisk 610409 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 8; SLC16A8 MONOCARBOXYLATE TRANSPORTER 3; MCT3 Asterisk 610410 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 1; DHRS1 SDR FAMILY, MEMBER 1 Asterisk 610411 IMPORTIN 13; IPO13 IMP13;; KIAA0724;; RAN-BINDING PROTEIN 13; RANBP13;; KARYOPHERIN 13 KAP13 Asterisk 610412 SERINE PALMITOYLTRANSFERASE, SMALL SUBUNIT, B; SPTSSB SMALL SUBUNIT OF SERINE PALMITOYLTRANSFERASE B; SSSPTB;; ADMP, MOUSE, HOMOLOG OF; ADMP;; CHROMOSOME 3 OPEN READING FRAME 57; C3ORF57 Asterisk 610413 INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN-LIKE 1; IGFBPL1 IGFBP-RELATED PROTEIN 4; IGFBPRP4 Asterisk 610414 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 15; NBPF15 MGC8902 Asterisk 610415 SYNTAXIN-BINDING PROTEIN 4; STXBP4 STX4-INTERACTING PROTEIN; SYNIP Asterisk 610416 SCAN DOMAIN-CONTAINING 1; SCAND1 RAZ1;; SDP1 Asterisk 610417 SCAN DOMAIN-CONTAINING 2; SCAND2 Asterisk 610418 WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 2; WDFY2 Number Sign 610419 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68 Percent 610420 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1 Asterisk 610421 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 3; KHDRBS3 TSTAR;; ETOILE;; SALP;; SLM2 Percent 610422 ALOPECIA-MENTAL RETARDATION SYNDROME 2; APMR2 Asterisk 610423 PHOSPHOFURIN ACIDIC CLUSTER SORTING PROTEIN 2; PACS2 KIAA0602 Number Sign 610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO HBV, SUSCEPTIBILITY TO HEPATITIS B VIRUS, RESISTANCE TO, INCLUDED;; HBV, RESISTANCE TO, INCLUDED Number Sign 610425 CATARACT 23, MULTIPLE TYPES; CTRCT23 CATARACT 23, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA Caret 610426 MOVED TO 610425 Number Sign 610427 CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY; CSNB2B, FORMERLY;; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE, FORMERLY Asterisk 610428 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX18; COX18 COX18, S. CEREVISIAE, HOMOLOG OF;; MITOCHONDRIAL COX18 Asterisk 610429 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX19; COX19 COX19, S. CEREVISIAE, HOMOLOG OF Percent 610430 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2 Asterisk 610431 RING FINGER PROTEIN 167; RNF167 RING105 Asterisk 610432 RING FINGER PROTEIN 125; RNF125 T-CELL RING PROTEIN IDENTIFIED IN ACTIVATION SCREEN; TRAC1 Asterisk 610433 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5B; LY6G5B G5B Asterisk 610434 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G5C; LY6G5C G5C Asterisk 610435 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6C; LY6G6C G6C Asterisk 610436 ROTATIN; RTTN Asterisk 610437 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6E; LY6G6E G6E Percent 610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3; RLS3 Percent 610439 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4; RLS4 Asterisk 610440 SMALL G PROTEIN SIGNALING MODULATOR 3; SGSM3 RUN AND TBC1 DOMAINS-CONTAINING PROTEIN 3; RUTBC3;; MERLIN-ASSOCIATED PROTEIN; MAP;; MERLIN-BINDING PROTEIN;; RUSC3 Percent 610441 TESTICULAR MICROLITHIASIS Number Sign 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; SEMDG SEMD, GENEVIEVE TYPE;; NANS DEFICIENCY Number Sign 610443 KOOLEN-DE VRIES SYNDROME; KDVS CHROMOSOME 17q21.31 DELETION SYNDROME;; MICRODELETION 17q21.31 SYNDROME Number Sign 610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE Number Sign 610445 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1 NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED Number Sign 610446 BURULI ULCER, SUSCEPTIBILITY TO MYCOBACTERIUM ULCERANS, SUSCEPTIBILITY TO Asterisk 610447 SHADOW OF PRION PROTEIN; SPRN SHADOO;; SHO Number Sign 610448 CHILBLAIN LUPUS 1; CHBL1 Asterisk 610449 MITOCHONDRIAL CARRIER HOMOLOG 1; MTCH1 PRESENILIN-ASSOCIATED PROTEIN; PSAP Asterisk 610450 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 1; LYPD1 PUTATIVE HELA TUMOR SUPPRESSOR; PHTS Asterisk 610451 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 35; LRRC35 E-LIKE PROTEIN; EL Percent 610452 MUTAGEN SENSITIVITY Asterisk 610453 HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; HGSNAT TRANSMEMBRANE PROTEIN 76; TMEM76 Asterisk 610454 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 2; LZTS2 KIAA1813;; LAPSER1 Number Sign 610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA Asterisk 610456 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9; SAMD9 Asterisk 610457 SPHINGOMYELIN PHOSPHODIESTERASE 4, NEUTRAL MEMBRANE; SMPD4 SPHINGOMYELINASE, NEUTRAL, 3; NSMASE3;; KIAA1418 Asterisk 610458 LEUCINE ZIPPER AND CTNNBIP1 DOMAINS-CONTAINING PROTEIN; LZIC Asterisk 610459 PROLINE-RICH PROTEIN 13; PRR13 TAXOL RESISTANCE GENE 1; TXR1 Number Sign 610460 THIOPURINES, POOR METABOLISM OF, 1; THPM1 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY; TPMTD;; TPMT DEFICIENCY Asterisk 610461 RETICULON 4 RECEPTOR-LIKE 1; RTN4RL1 NOGO-66 RECEPTOR HOMOLOG 2; NGRH2;; NOGO-66 RECEPTOR-RELATED PROTEIN 3; NGR3 Asterisk 610462 RETICULON 4 RECEPTOR-LIKE 2; RTN4RL2 NOGO-66 RECEPTOR HOMOLOG 1; NGRH1;; NOGO-66 RECEPTOR-RELATED PROTEIN 2; NGR2 Asterisk 610463 NUCLEAR UNDECAPRENYL PYROPHOSPHATE SYNTHASE 1, S. CEREVISIAE, HOMOLOG OF; NUS1 NOGOB RECEPTOR; NGBR;; CHROMOSOME 6 OPEN READING FRAME 68; C6ORF68 Asterisk 610464 G PROTEIN-COUPLED RECEPTOR 156; GPR156 GABABL Asterisk 610465 ACYL-CoA SYNTHETASE FAMILY, MEMBER 2; ACSF2 FLJ20920 Asterisk 610466 LIMB EXPRESSION 1, MOUSE, HOMOLOG OF; LIX1 Asterisk 610467 3-HYDROXYACYL-CoA DEHYDRATASE 1; HACD1 PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE), MEMBER A; PTPLA Asterisk 610468 INTERFERON-INDUCED PROTEIN 44; IFI44 INTERFERON-INDUCED, HEPATITIS C-ASSOCIATED MICROTUBULE AGGREGATE PROTEIN, 44 kD;; p44 Asterisk 610469 ADAPTOR-RELATED PROTEIN COMPLEX 3, MU-2 SUBUNIT; AP3M2 CLATHRIN ADAPTOR COMPLEX AP3, MU-3B SUBUNIT;; CLA20 Asterisk 610470 TRANSFER RNA PHOSPHOTRANSFERASE 1; TRPT1 tRNA PHOSPHOTRANSFERASE 1 Asterisk 610471 VASOHIBIN 2; VASH2 Asterisk 610472 ACYLTRANSFERASE-LIKE 2; AYTL2 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE; LPCAT;; LPC ACYLTRANSFERASE 1; LPCAT1 Asterisk 610473 LYSOPHOSPHATIDYLGLYCEROL ACYLTRANSFERASE 1; LPGAT1 Number Sign 610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME; CATSHLS CATSHL SYNDROME Number Sign 610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2;; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD2 Number Sign 610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11; ARVC11 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR, INCLUDED Asterisk 610477 TRANSMEMBRANE PROTEASE, SERINE 9; TMPRSS9 POLYSERASE 1 Number Sign 610478 RETINAL CONE DYSTROPHY 4; RCD4 Asterisk 610479 SERUM RESPONSE FACTOR BINDING PROTEIN 1; SRFBP1 SRF-DEPENDENT TRANSCRIPTION REGULATION-ASSOCIATED PROTEIN;; p49/STRAP;; p49 Asterisk 610480 LEM DOMAIN-CONTAINING PROTEIN 1; LEMD1 Asterisk 610481 SH2 DOMAIN-CONTAINING PROTEIN D; SHD Asterisk 610482 SH2 DOMAIN-CONTAINING PROTEIN E; SHE Percent 610483 AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS Asterisk 610484 PROLINE-RICH SYNAPSE-ASSOCIATED PROTEIN-INTERACTING PROTEIN 1 PROSAP-INTERACTING PROTEIN 1; PROSAPIP1;; KIAA0552 Asterisk 610485 LOSS OF HETEROZYGOSITY, CHROMOSOME 3, REGION 2, GENE A; LOH3CR2A ESTROGEN RECEPTOR REPRESSOR, 10-KD; ERR10;; NAG7 Asterisk 610486 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 4; LRRC4 Asterisk 610487 KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED PROTEIN 2; KHDRBS2 SLM1 Asterisk 610488 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 9; TTC9 KIAA0227 Number Sign 610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 PIGMENTED MICRONODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1;; CUSHING SYNDROME, ADRENAL, DUE TO PPNAD1;; ADRENOCORTICAL NODULAR DYSPLASIA, PRIMARY Asterisk 610490 PURPLE ACID PHOSPHATASE, LONG FORM PAPL;; FLJ16165 Asterisk 610491 SLAIN MOTIF FAMILY, MEMBER 1; SLAIN1 Asterisk 610492 SLAIN MOTIF FAMILY, MEMBER 2; SLAIN2 KIAA1458 Asterisk 610493 DIX DOMAIN-CONTAINING PROTEIN 1; DIXDC1 COILED-COIL DIX1; CCD1;; KIAA1735 Asterisk 610494 DDB1- AND CUL4-ASSOCIATED FACTOR 6; DCAF6 IQ MOTIF- AND WD REPEATS-CONTAINING 1; IQWD1;; NUCLEAR RECEPTOR INTERACTION PROTEIN; NRIP;; HOM-TES-88/94/95 Asterisk 610495 HOM-TES-103 GENE Asterisk 610496 RHO GTPase-ACTIVATING PROTEIN 29; ARHGAP29 PTPL1-ASSOCIATED RHOGAP1; PARG1 Asterisk 610497 BRAIN AND REPRODUCTIVE ORGAN-EXPRESSED PROTEIN; BRE BRCC4;; BRCC45 Number Sign 610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS Asterisk 610499 RAP GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; RAPGEF6 RAS-ASSOCIATING GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RAGEF2;; PDZ DOMAIN-CONTAINING GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; PDZGEF2 Asterisk 610500 ANKYRIN REPEAT AND KH DOMAIN-CONTAINING PROTEIN 1; ANKHD1 MULTIPLE ANKYRIN REPEATS, SINGLE KH-DOMAIN, DROSOPHILA, HOMOLOG OF; MASK;; KIAA1085 MASK-BP3, INCLUDED;; VPR-BINDING ANKYRIN REPEAT PROTEIN, INCLUDED; VBARP, INCLUDED Asterisk 610501 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 1; NBPF1 KIAA1693 Asterisk 610502 RETICULON 4-INTERACTING PROTEIN 1; RTN4IP1 NOGO-INTERACTING MITOCHONDRIAL PROTEIN; NIMP Asterisk 610503 CELL DEATH-INDUCING p53 TARGET 1; CDIP1 CHROMOSOME 16 OPEN READING FRAME 5; C16ORF5 Number Sign 610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM Number Sign 610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;; CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS Asterisk 610506 PAF1 RNA POLYMERASE II-ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF; PAF1 PANCREATIC DIFFERENTIATION PROTEIN 2; PD2 Asterisk 610507 LEO1 RNA POLYMERASE II ASSOCIATED FACTOR, S. CEREVISIAE, HOMOLOG OF; LEO1 REPLICATIVE SENESCENCE DOWNREGULATED LEO1-LIKE; RDL Number Sign 610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY7 Asterisk 610509 RESISTANCE TO INHIBITORS OF CHOLINESTERASE 3, C. ELEGANS, HOMOLOG OF; RIC3 Asterisk 610510 AURORA BOREALIS; BORA CHROMOSOME 13 OPEN READING FRAME 34; C13ORF34 Asterisk 610511 SEC23, S. CEREVISIAE, HOMOLOG OF, A; SEC23A Asterisk 610512 SEC23, S. CEREVISIAE, HOMOLOG OF, B; SEC23B Asterisk 610513 ATPase, TYPE 13A2; ATP13A2 Asterisk 610514 PHD FINGER PROTEIN 17; PHF17 GENE FOR APOPTOSIS AND DIFFERENTIATION IN EPITHELIA; JADE1;; KIAA1807 Asterisk 610515 PHD FINGER PROTEIN 15; PHF15 JADE2;; KIAA0239 Asterisk 610516 GLYCERATE KINASE; GLYCTK GLYCTK1 GLYCTK2, INCLUDED Asterisk 610517 CONTACTIN-ASSOCIATED PROTEIN-LIKE 3; CNTNAP3 CONTACTIN-ASSOCIATED PROTEIN 3; CASPR3;; KIAA1714 Asterisk 610518 CONTACTIN-ASSOCIATED PROTEIN-LIKE 4; CNTNAP4 CONTACTIN-ASSOCIATED PROTEIN 4; CASPR4;; KIAA1763 Asterisk 610519 CONTACTIN-ASSOCIATED PROTEIN-LIKE 5; CNTNAP5 CONTACTIN-ASSOCIATED PROTEIN 5; CASPR5 Asterisk 610520 CD300 ANTIGEN-LIKE FAMILY, MEMBER G; CD300LG TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 4; TREM4;; CLM9;; NEPMUCIN Asterisk 610521 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 12; KCTD12 PREDOMINANTLY FETAL-EXPRESSED T1 DOMAIN; PFET1;; PFETIN;; KIAA1778;; CHROMOSOME 13 OPEN READING FRAME 2; C13ORF2 Asterisk 610522 COORDINATED EXPRESSION TO IRXA2 CEI Asterisk 610523 CENTROSOMAL PROTEIN, 41-KD; CEP41 TESTIS-SPECIFIC PROTEIN A14 TESTIS-SPECIFIC PROTEIN 14, FORMERLY; TSGA14, FORMERLY Asterisk 610524 ENDOGENOUS RETROVIRUS GROUP FRD, MEMBER 1; ERVFRD1 HUMAN ENDOGENOUS RETROVIRUS FRD ENVELOPE PROTEIN;; HERV-FRD ENV PROTEIN;; SYNCYTIN 2;; SYNCYTIN B, MOUSE, HOMOLOG OF Asterisk 610525 5-PRIME-NUCLEOTIDASE, CYTOSOLIC, IA; NT5C1A NUCLEOTIDASE, 5-PRIME, CYTOSOLIC, IA;; CYTOSOLIC 5-PRIME NUCLEOTIDASE IA; CNIA; CN1A;; CYTOSOLIC 5-PRIME NUCLEOTIDASE I; CNI; CN1 Asterisk 610526 5-PRIME-NUCLEOTIDASE, CYTOSOLIC, IB; NT5C1B NUCLEOTIDASE, 5-PRIME, CYTOSOLIC, IB;; CYTOSOLIC 5-PRIME NUCLEOTIDASE IB; CNIB; CN1B;; AUTOIMMUNE INFERTILITY-RELATED PROTEIN; AIRP Asterisk 610527 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 1; TXNDC1 TRANSMEMBRANE TRX-RELATED PROTEIN; TMX Asterisk 610528 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 8; CHD8 AXIS DUPLICATION INHIBITOR; DUPLIN;; KIAA1564 Asterisk 610529 TUMOR SUPPRESSOR CANDIDATE 1; TUSC1 TSG9 Asterisk 610530 TRIPARTITE MOTIF-CONTAINING PROTEIN 41; TRIM41 Asterisk 610531 FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A DOWNREGULATED BY CTNNB1, PROTEIN A; DRCTNNB1A;; HYCCIN Number Sign 610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 HYPOMYELINATION AND CONGENITAL CATARACT: HCC Asterisk 610533 WW, C2, AND COILED-COIL DOMAIN-CONTAINING 1; WWC1 KIDNEY AND BRAIN EXPRESSED PROTEIN; KIBRA;; KIAA0869 Asterisk 610534 DECAPPING ENZYME, SCAVENGER; DCPS HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 5; HINT5;; DCS1, C. ELEGANS, HOMOLOG OF; DCS1 Percent 610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M Number Sign 610536 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM;; GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE Asterisk 610537 DIPEPTIDYL PEPTIDASE VII; DPP7 QUIESCENT CELL PROLINE DIPEPTIDASE; QPP Asterisk 610538 UBIQUITIN-CONJUGATING ENZYME E2T; UBE2T HSPC150 Number Sign 610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY Asterisk 610540 GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT 1; GNASAS1 GNASAS;; SANG;; GNAS1, ANTISENSE; GNAS1AS;; NESP, ANTISENSE; NESPAS Asterisk 610541 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3B; PPP1R3B PROTEIN PHOSPHATASE 1, GLYCOGEN-TARGETING SUBUNIT, LIVER; GL;; PP1G, HEPATIC Number Sign 610542 MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1; CMSTA1 Number Sign 610543 CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL RUBINSTEIN-TAYBI DELETION SYNDROME;; RSTS DELETION SYNDROME Asterisk 610544 IGF-LIKE FAMILY MEMBER 1; IGFL1 Asterisk 610545 IGF-LIKE FAMILY MEMBER 2; IGFL2 Asterisk 610546 IGF-LIKE FAMILY MEMBER 3; IGFL3 Asterisk 610547 IGF-LIKE FAMILY MEMBER 4; IGFL4 Asterisk 610548 AQUARIUS, MOUSE, HOMOLOG OF; AQR INTRON-BINDING PROTEIN, 160-KD; IBP160;; KIAA0560 Number Sign 610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS;; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A;; IRAN, TYPE A Asterisk 610550 METHIONINE ADENOSYLTRANSFERASE I, ALPHA; MAT1A MATA1;; S-ADENOSYLMETHIONINE SYNTHETASE 1; SAMS1;; SAMS, LIVER-SPECIFIC Number Sign 610551 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; IIAE1 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 Asterisk 610552 UBIQUITIN-LIKE MODIFIER ACTIVATING ENZYME 5; UBA5 UBIQUITIN-ACTIVATING ENZYME E1 DOMAIN-CONTAINING 1; UBE1DC1 Asterisk 610553 UBIQUITIN-FOLD MODIFIER 1; UFM1 Asterisk 610554 UBIQUITIN-FOLD MODIFIER-CONJUGATING ENZYME 1; UFC1 UFM1-CONJUGATING ENZYME 1 Asterisk 610555 CORE 1 SYNTHASE, GLYCOPROTEIN-N-ACETYLGALACTOSAMINE 3-BETA-GALACTOSYLTRANSFERASE, 1; C1GALT1 CORE 1 BETA-3-GAL-T;; T SYNTHASE Asterisk 610556 HIGHLY ACCELERATED REGION GENE 1A; HAR1A HAR1F Asterisk 610557 HIGHLY ACCELERATED REGION GENE 1B; HAR1B HAR1R Asterisk 610558 MITOGEN-ACTIVATED PROTEIN KINASE-ASSOCIATED PROTEIN 1; MAPKAP1 SAPK-INTERACTING PROTEIN 1; SIN1;; MEKK2-INTERACTING PROTEIN 1; MIP1;; JC310 Asterisk 610559 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 4; RASSF4 AD037 Asterisk 610560 PROTEASE, SERINE, 36; PRSS36 POLYSERASE 2;; POLYSERINE PROTEASE 2 Asterisk 610561 PROTEASE, SERINE, 53; PRSS53 POLYSERASE 3; POL3S Asterisk 610562 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12A; ZC3H12A MCP1-INDUCED PROTEIN; MCPIP;; MCPIP1;; REGNASE 1 Asterisk 610563 KARYOPHERIN ALPHA-6; KPNA6 IMPORTIN ALPHA-7 Asterisk 610564 PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2; PDSS2 DECAPRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2;; D-LESS POLYPRENYL PYROPHOSPHATE SYNTHASE 1; DLP1;; CHROMOSOME 6 OPEN READING FRAME 210; C6ORF210 Asterisk 610565 DYNEIN, AXONEMAL, LIGHT CHAIN 4; DNAL4 DNALC4, MOUSE, HOMOLOG OF Asterisk 610566 MICRO RNA 146A; MIR146A miRNA146A;; MIRN146A Asterisk 610567 MICRO RNA 146B; MIR146B miRNA146B;; MIRN146B Asterisk 610568 ZINC FINGER PROTEIN 687; ZNF687 KIAA1441 ZNF687/RUNX1 FUSION GENE, INCLUDED Asterisk 610569 UBIQUITIN-SPECIFIC PROTEASE 24; USP24 KIAA1057 Asterisk 610570 UBIQUITIN-SPECIFIC PROTEASE 40; USP40 Asterisk 610571 FK506-BINDING PROTEIN 11; FKBP11 FK506-BINDING PROTEIN, 19-KD; FKBP19 Asterisk 610572 MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2 MARVD2;; TRICELLULIN; TRIC Asterisk 610573 R-SPONDIN FAMILY, MEMBER 4; RSPO4 CRISTIN4 Asterisk 610574 R-SPONDIN FAMILY, MEMBER 3; RSPO3 PWTSR;; CRISTIN1 Asterisk 610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2 CRISTIN2 Asterisk 610576 RHO GTPase-ACTIVATING PROTEIN 9; ARHGAP9 Asterisk 610577 RHO GTPase-ACTIVATING PROTEIN 12; ARHGAP12 Asterisk 610578 RHO GTPase-ACTIVATING PROTEIN 15; ARHGAP15 BM046 Asterisk 610579 RCSD DOMAIN-CONTAINING PROTEIN 1; RCSD1 CAPZ-INTERACTING PROTEIN; CAPZIP Asterisk 610580 ONCOGENE PIM3; PIM3 SERINE/THREONINE PROTEIN KINASE PIM3 Asterisk 610581 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2, INTRONIC TRANSCRIPT 1; COPG2IT1 COPG2 INTRONIC TRANSCRIPT 1; CIT1 Number Sign 610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3 TNDM3 DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED Asterisk 610583 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 6; ANKRD6 KIAA0957;; DIVERSIN Asterisk 610584 TRIPARTITE MOTIF-CONTAINING PROTEIN 67; TRIM67 TRIM9-LIKE; TNL Asterisk 610585 RHO GTPase-ACTIVATING PROTEIN 22; ARHGAP22 Asterisk 610586 RHO GTPase-ACTIVATING PROTEIN 24; ARHGAP24 RAC1- AND CDC42-SPECIFIC GTPase-ACTIVATING PROTEIN, 72-KD; RCGAP72;; p73RHOGAP;; FILAMIN A-ASSOCIATED RHOGAP; FILGAP Asterisk 610587 RHO GTPase-ACTIVATING PROTEIN 25; ARHGAP25 KIAA0053 Asterisk 610588 DENDRIN; DDN KIAA0749 Asterisk 610589 RHO GTPase-ACTIVATING PROTEIN 11A; ARHGAP11A KIAA0013 Asterisk 610590 RHO GTPase-ACTIVATING PROTEIN 23; ARHGAP23 KIAA1501 Asterisk 610591 RHO GTPase-ACTIVATING PROTEIN 27; ARHGAP27 CIN85-ASSOCIATED MULTIDOMAIN-CONTAINING RhoGAP1; CAMGAP1 Asterisk 610592 RHO GTPase-ACTIVATING PROTEIN 28; ARHGAP28 KIAA1314 Asterisk 610593 MAP6 DOMAIN-CONTAINING PROTEIN 1; MAP6D1 STOP-LIKE PROTEIN, 21-KD; SL21 Asterisk 610594 FOLLICULIN-INTERACTING PROTEIN 1; FNIP1 KIAA1961 Asterisk 610595 FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE, S. CEREVISIAE, HOMOLOG OF; FLAD1 FAD1, S. CEREVISIAE, HOMOLOG OF;; FAD SYNTHETASE; FADS;; FMN ADENYLYLTRANSFERASE Asterisk 610596 BLOCK OF PROLIFERATION 1; BOP1 KIAA0124 Asterisk 610597 GLUTAMATE-RICH WD REPEAT-CONTAINING PROTEIN 1; GRWD1 GRWD;; KIAA1942 Asterisk 610598 PHOTORECEPTOR DISC COMPONENT; PRCD PRCD, DOG, HOMOLOG OF Number Sign 610599 RETINITIS PIGMENTOSA 36; RP36 Number Sign 610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY CMO II DEFICIENCY;; ALDOSTERONE DEFICIENCY II;; HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1; FHHA1B;; ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE;; STEROID 18-OXIDASE DEFICIENCY;; 18-OXIDASE DEFICIENCY Asterisk 610601 KALLIKREIN-RELATED PEPTIDASE 15; KLK15 KALLIKREIN 15;; ACO PROTEASE;; PROSTINOGEN PROSTIN, INCLUDED Asterisk 610602 AlkB, E. COLI, HOMOLOG OF, 2; ALKBH2 ABH2 Asterisk 610603 AlkB, E. COLI, HOMOLOG OF, 3; ALKBH3 PROSTATE CANCER ANTIGEN 1; PCA1;; DEPC1;; ABH3 Asterisk 610604 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, PSEUDOGENE 1; KIR3DP1 CD158C;; KIRX;; KIR48;; KIR2DS6 Asterisk 610605 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 2; CPEB2 Asterisk 610606 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 3; CPEB3 KIAA0940 CPEB3 RIBOZYME, INCLUDED Asterisk 610607 CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4; CPEB4 CPE-BINDING PROTEIN 4;; KIAA1673 Asterisk 610608 GINS COMPLEX SUBUNIT 1; GINS1 PSF1, S. CEREVISIAE, HOMOLOG OF; PSF1;; KIAA0186 GINS COMPLEX, INCLUDED Asterisk 610609 GINS COMPLEX SUBUNIT 2; GINS2 PSF2, S. CEREVISIAE, HOMOLOG OF; PSF2 Asterisk 610610 GINS COMPLEX SUBUNIT 3; GINS3 PSF3, S. CEREVISIAE, HOMOLOG OF; PSF3 Asterisk 610611 GINS COMPLEX SUBUNIT 4; GINS4 SLD5, S. CEREVISIAE, HOMOLOG OF; SLD5 Number Sign 610612 LEBER CONGENITAL AMAUROSIS 12; LCA12 Asterisk 610613 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1 STEROID 11-BETA-HYDROXYLASE;; P450C11 Asterisk 610614 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 1; TBRG1 TGFB REGULATOR 1;; NUCLEAR INTERACTOR OF ARF AND MDM2; NIAM Asterisk 610615 RAB-LIKE PROTEIN 6; RABL6 PARTNER OF ARF; PARF;; CHROMOSOME 9 OPEN READING FRAME 86; C9ORF86 Asterisk 610616 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 12; ANKRD12 ANKYRIN REPEAT-CONTAINING COFACTOR 2; ANCO2;; KIAA0874 Asterisk 610617 DENTICLELESS, DROSOPHILA, HOMOLOG OF; DTL RETINOIC ACID-REGULATED NUCLEAR MATRIX-ASSOCIATED PROTEIN; RAMP;; DDB1- AND CUL4-ASSOCIATED FACTOR 2; DCAF2;; CDT2, S. POMBE, HOMOLOG OF; CDT2;; L2DTL Number Sign 610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 HAE III;; ESTROGEN-RELATED HAE;; ESTROGEN-SENSITIVE HAE;; ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION;; HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION;; HEREDITARY ANGIOEDEMA WITH NORMAL C1 INHIBITOR ACTIVITY Asterisk 610619 COAGULATION FACTOR XII; F12 HAGEMAN FACTOR Asterisk 610620 ADP-RIBOSYLHYDROLASE-LIKE 1; ADPRHL1 ADP-RIBOSYLHYDROLASE 2; ARH2 Asterisk 610621 INTURNED, DROSOPHILA, HOMOLOG OF; INTU KIAA1284;; PDZ DOMAIN-CONTAINING 6; PDZK6 Asterisk 610622 FUZZY, DROSOPHILA, HOMOLOG OF; FUZ Number Sign 610623 CATARACT 11, MULTIPLE TYPES; CTRCT11 CATARACT, POSTERIOR POLAR, 4; CTPP4;; CPP4 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES, INCLUDED Asterisk 610624 ADP-RIBOSYLHYDROLASE-LIKE 2; ADPRHL2 ADP-RIBOSYLHYDROLASE 3; ARH3 Asterisk 610625 ADP-RIBOSYLTRANSFERASE 5; ART5 Asterisk 610626 PHOSPHOLIPID PHOSPHATASE 5; PLPP5 PPAP2 DOMAIN-CONTAINING PROTEIN 1B; PPAPDC1B;; HTPAP Asterisk 610627 ALPHA-2-MACROGLOBULIN-LIKE 1; A2ML1 Number Sign 610628 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4 Number Sign 610629 DIAMOND-BLACKFAN ANEMIA 3; DBA3 Asterisk 610630 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 20A; PTPN20A PTPN20, CENTROMERIC COPY Asterisk 610631 PROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 20B; PTPN20B PTPN20, TELOMERIC COPY Asterisk 610632 MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 2; MICU2 EF-HAND DOMAIN FAMILY, MEMBER A1; EFHA1 Asterisk 610633 MITOCHONDRIAL CALCIUM UPTAKE PROTEIN 3; MICU3 EF-HAND DOMAIN FAMILY, MEMBER A2; EFHA2 Caret 610634 MOVED TO 115650 Asterisk 610635 COLLAGEN TRIPLE-HELIX REPEAT-CONTAINING PROTEIN 1; CTHRC1 Asterisk 610636 MICRO RNA 27B; MIR27B miRNA27B;; MIRN27B Asterisk 610637 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 5; MARCHF5 MARCH V; MARCH5 Asterisk 610638 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 5; IGSF5 JUNCTIONAL ADHESION MOLECULE 4; JAM4 Asterisk 610639 GRID2-INTERACTING PROTEIN 1; GRID2IP1 DELPHILIN Asterisk 610640 YTH N6-METHYLADENOSINE RNA-BINDING PROTEIN 2; YTHDF2 YTH DOMAIN FAMILY, MEMBER 2 YTHDF2/RUNX1 FUSION GENE, INCLUDED Asterisk 610641 TERMINAL URIDYLYL TRANSFERASE 1, U6 snRNA-SPECIFIC; TUT1 U6-TUTase;; POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 2; PAPD2;; PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 2;; NUCLEAR SPECKLE-TARGETED PIPK1A-REGULATED POLY(A) POLYMERASE; STAR-PAP Asterisk 610642 ENDOPLASMIC RETICULUM PROTEIN, 27-KD; ERP27 ERp27;; CHROMOSOME 12 OPEN READING FRAME 46; C12ORF46 Asterisk 610643 CELL PROLIFERATION-REGULATING INHIBITOR OF PROTEIN PHOSPHATASE 2A; CIP2A KIAA1524 GENE; KIAA1524;; AUTOANTIGEN, 90-KD;; p90;; CANCEROUS INHIBITOR OF PP2A KIAA1524/MLL FUSION GENE, INCLUDED Number Sign 610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, INCLUDED Asterisk 610645 CALCIUM- AND INTEGRIN-BINDING PROTEIN 3; CIB3 KINASE-INTERACTING PROTEIN 3; KIP3 Asterisk 610646 CALCIUM- AND INTEGRIN-BINDING PROTEIN 4; CIB4 KINASE-INTERACTING PROTEIN 4; KIP4 Asterisk 610647 N-ACETYLTRANSFERASE 8-LIKE; NAT8L NAT8-LIKE;; ASPARTATE N-ACETYLTRANSFERASE;; CAMELL0, XENOPUS, HOMOLOG OF, 3; CML3 Asterisk 610648 CUT-LIKE HOMEOBOX 2; CUX2 CUT, DROSOPHILA, HOMOLOG OF, 2;; CUT-LIKE 2; CUTL2;; CDP2;; KIAA0293 Percent 610649 BONE SIZE QUANTITATIVE TRAIT LOCUS 3 BSZQTL3 Asterisk 610650 ADHESION-REGULATING MOLECULE 1; ADRM1 ARM1;; RPN13, S. CEREVISIAE, HOMOLOG OF; RPN13 Number Sign 610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB XP, GROUP B; XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED;; XPB/CS, INCLUDED Asterisk 610652 PHOSPHODIESTERASE 10A; PDE10A Asterisk 610653 RIBOSOMAL RNA-PROCESSING 1, S. CEREVISIAE, HOMOLOG OF; RRP1 NUCLEOLAR PROTEIN, 52-KD; NOP52;; NOVEL NUCLEAR PROTEIN 1; NNP1 Asterisk 610654 RIBOSOMAL RNA-PROCESSING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF, B; RRP1B KIAA0179 GENE; KIAA0179;; NNP1-LIKE; NNP1L Percent 610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4 Asterisk 610656 CYSTEINE CONJUGATE BETA-LYASE 2; CCBL2 KYNURENINE AMINOTRANSFERASE III; KAT3 Asterisk 610657 WASH COMPLEX, SUBUNIT 5; WASHC5 KIAA0196 GENE; KIAA0196;; STRUMPELLIN Asterisk 610658 TRIPARTITE MOTIF-CONTAINING PROTEIN 29; TRIM29 ATAXIA-TELANGIECTASIA GROUP D-ASSOCIATED PROTEIN; ATDC Asterisk 610659 GLUTAMATE RECEPTOR, IONOTROPIC, DELTA 1; GRID1 KIAA1220 Asterisk 610660 GLYOXYLATE REDUCTASE 1 HOMOLOG; GLYR1 NUCLEAR PROTEIN, 60-KD; NP60;; CYTOKINE-LIKE NUCLEAR FACTOR N-PAC Asterisk 610661 N-GLYCANASE 1; NGLY1 PEPTIDE-N-GLYCANASE 1, S. CEREVISIAE, HOMOLOG OF; PNG1 Asterisk 610662 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Y PROTEIN; PIGY PIGY UPSTREAM READING FRAME, INCLUDED; PYURF, INCLUDED;; PreY, INCLUDED Asterisk 610663 SET AND MYND DOMAIN-CONTAINING PROTEIN 2; SMYD2 Asterisk 610664 BREAST CANCER-OVEREXPRESSED GENE 1 BCOX1;; KIAA0100 Asterisk 610665 Fc FRAGMENT OF IgG, LOW AFFINITY IIIb, RECEPTOR FOR; FCGR3B IMMUNOGLOBULIN G Fc RECEPTOR III-1;; FCRIII-1;; CD16B NEUTROPHIL ANTIGEN NA, INCLUDED;; NEUTROPHIL-SPECIFIC ANTIGEN NA1, INCLUDED;; NEUTROPHIL-SPECIFIC ANTIGEN NA2, INCLUDED;; NEUTROPHIL-SPECIFIC ANTIGEN NC1, INCLUDED Asterisk 610666 NEURENSIN 2; NRSN2 Asterisk 610667 UBIQUITIN CARBOXYL-TERMINAL HYDROLASE L5; UCHL5 UCH37 Asterisk 610668 INSCUTEABLE, DROSOPHILA, HOMOLOG OF; INSC Asterisk 610669 TNFAIP3-INTERACTING PROTEIN 2; TNIP2 A20-BINDING INHIBITOR OF NFKB 2; ABIN2;; FLIP1 Asterisk 610670 CYTOCHROME P450, FAMILY 2, SUBFAMILY U, POLYPEPTIDE 1; CYP2U1 Asterisk 610671 ZINC FINGER PROTEIN 628; ZNF628 ZEC Asterisk 610672 NUCLEUS ACCUMBENS-ASSOCIATED PROTEIN 1, BEN AND BTB/POZ DOMAINS-CONTAINING; NACC1 NAC1;; BTB/POZ DOMAIN-CONTAINING PROTEIN 14B; BTBD14B Asterisk 610673 NUCLEAR APOPTOSIS-INDUCING FACTOR 1; NAIF1 CHROMOSOME 9 OPEN READING FRAME 90; C9ORF90 Asterisk 610674 SPERM FLAGELLAR PROTEIN 1; SPEF1 CHROMOSOME 20 OPEN READING FRAME 28; C20ORF28;; CALPONIN-HOMOLOGY AND MICROTUBULE-ASSOCIATED PROTEIN; CLAMP Asterisk 610675 UNCONVENTIONAL SNARE IN THE ER 1, S. CEREVISIAE, HOMOLOG OF; USE1 HEMATOPOIETIC STEM/PROGENITOR CELL PROTEIN MDS032; MDS032;; p31 Percent 610676 AUTISM, SUSCEPTIBILITY TO, 7; AUTS7 Asterisk 610677 LSM14A PROTEIN; LSM14A RNA-ASSOCIATED PROTEIN 55; RAP55 Number Sign 610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4 Asterisk 610679 CYCLIN-DEPENDENT KINASE 14; CDK14 PFTAIRE PROTEIN KINASE 1; PFTK1;; PFTAIRE1;; KIAA0834 NULL 610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS Asterisk 610681 PHOSPHOFRUCTOKINASE, MUSCLE TYPE; PFKM PFK1;; PFK, MUSCLE TYPE Number Sign 610682 OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 OI, TYPE VII;; OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY; OI2B, FORMERLY Asterisk 610683 BBS12 GENE; BBS12 FLJ35630;; C4ORF24 Asterisk 610684 C-TERMINAL DOMAIN NUCLEAR ENVELOPE PHOSPHATASE 1; CTDNEP1 CTD NUCLEAR ENVELOPE PHOSPHATASE 1;; DULLARD, XENOPUS, HOMOLOG OF; DULLARD;; NEM1, S. CEREVISIAE, HOMOLOG OF Percent 610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2 Asterisk 610686 UBX DOMAIN PROTEIN 2B; UBXN2B LOC137886 GENE;; p37 Number Sign 610687 NEMALINE MYOPATHY 7; NEM7 Number Sign 610688 JOUBERT SYNDROME 6; JBTS6 Asterisk 610689 DIPLA1, ANTISENSE DIPAS Asterisk 610690 3-HYDROXYISOBUTYRYL-CoA HYDROLASE; HIBCH BETA-HYDROXYISOBUTYRYL-COENZYME A HYDROLASE;; HIBYL-CoA-H Asterisk 610691 PRUNE, DROSOPHILA, HOMOLOG OF, 2; PRUNE2 BCH MOTIF-CONTAINING MOLECULE AT THE C-TERMINAL REGION 1; BMCC1;; KIAA0367 Asterisk 610692 HEAT-SHOCK 27-KD PROTEIN 7; HSPB7 CARDIOVASCULAR HEAT-SHOCK PROTEIN; CVHSP Asterisk 610693 HYLS1 GENE; HYLS1 FLJ32915 Asterisk 610694 PYROGLUTAMYL PEPTIDASE I; PGPEP1 PGP; PGP I;; PYRROLIDONE-CARBOXYLATE PEPTIDASE; PCP;; 5-OXOPROLYL PEPTIDASE Asterisk 610695 HEAT-SHOCK 27-KD PROTEIN 6; HSPB6 HEAT-SHOCK PROTEIN, 20-KD; HSP20 Asterisk 610696 PCNA-ASSOCIATED FACTOR, 15-KD PAF;; p15(PAF);; OVEREXPRESSED IN ANAPLASTIC THYROID CARCINOMA 1; OEATC1;; KIAA0101 Asterisk 610697 PDZ DOMAIN-CONTAINING 2; PDZD2 PLAKOPHILIN-RELATED ARMADILLO REPEAT PROTEIN-INTERACTING PDZ PROTEIN; PAPIN;; PIN1;; ACTIVATED IN PROSTATE CANCER; AIPC;; KIAA0300 Number Sign 610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4 Asterisk 610699 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 2A; ZFAND2A AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2A;; ARSENITE-INDUCIBLE RNA-ASSOCIATED PROTEIN; AIRAP Asterisk 610700 HTRA SERINE PEPTIDASE 4; HTRA4 Asterisk 610701 HEAT-SHOCK 70-KD PROTEIN 12A; HSPA12A KIAA0417 Asterisk 610702 HEAT-SHOCK 70-KD PROTEIN 12B; HSPA12B Asterisk 610703 HEAT-SHOCK 105/110-KD PROTEIN 1; HSPH1 HEAT-SHOCK PROTEIN, 105-KD; HSP105;; HEAT-SHOCK PROTEIN, 110-KD; HSP110;; KIAA0201 Asterisk 610704 PROHIBITIN 2; PHB2 REPRESSOR OF ESTROGEN RECEPTOR ACTIVITY; REA Asterisk 610705 CD300 ANTIGEN-LIKE FAMILY, MEMBER B; CD300LB CD300B;; CLM7;; TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 5; TREM5;; IMMUNE RECEPTOR EXPRESSED BY MYELOID CELLS 3; IREM3;; LEUKOCYTE MONOIMMUNOGLOBULIN-LIKE RECEPTOR 5; LMIR5 Number Sign 610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA;; DEAFNESS WITH LAMM Percent 610707 PSORIASIS 8, SUSCEPTIBILITY TO; PSORS8 Number Sign 610708 OPTIC ATROPHY 5; OPA5 Asterisk 610709 TESTIS-SPECIFIC SERINE/THREONINE KINASE 1; TSSK1 STK22A, MOUSE, HOMOLOG OF;; SERINE/THREONINE PROTEIN KINASE 22D; STK22D Asterisk 610710 TESTIS-SPECIFIC SERINE/THREONINE KINASE 2; TSSK2 SERINE/THREONINE PROTEIN KINASE 22B; STK22B Asterisk 610711 TESTIS-SPECIFIC SERINE/THREONINE KINASE 4; TSSK4 TSSK5 Asterisk 610712 TESTIS-SPECIFIC SERINE/THREONINE KINASE 6; TSSK6 SMALL SERINE/THREONINE PROTEIN KINASE; SSTK;; TSSK4 Number Sign 610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME, INCLUDED; BDSDO, INCLUDED Asterisk 610714 PROTEIN KINASE N3; PKN3 PKN-BETA Asterisk 610715 HEMOGEN; HEMGN ERYTHROID DIFFERENTIATION-ASSOCIATED GENE; EDAG Asterisk 610716 TIMELESS-INTERACTING PROTEIN; TIPIN Number Sign 610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM NEUTRAL LIPID STORAGE DISEASE WITHOUT ICHTHYOSIS Asterisk 610718 MICRO RNA 195; MIR195 miRNA195;; MIRN195 Asterisk 610719 MICRO RNA 199A1; MIR199A1 miRNA199A1;; MIRN199A1 Asterisk 610720 MICRO RNA 199A2; MIR199A2 miRNA199A2;; MIRN199A2 Asterisk 610721 MICRO RNA 214; MIR214 miRNA214;; MIRN214 Caret 610722 MOVED TO 607962 Asterisk 610723 MICRO RNA 23B; MIR23B miRNA23B;; MIRN23B Asterisk 610724 MICRO RNA 24-2; MIR24-2 miRNA24-2;; MIRN24-2 Number Sign 610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3 NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 Asterisk 610726 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 1; TRUB1 PUS4 Asterisk 610727 TRUB PSEUDOURIDINE SYNTHASE, E. COLI, HOMOLOG OF, 2; TRUB2 Asterisk 610728 SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3A; SMPDL3A ACID SPHINGOMYELINASE-LIKE PHOSPHODIESTERASE 3A; ASML3A Asterisk 610729 WD REPEAT-CONTAINING PROTEIN 92; WDR92 LOC116143;; MONAD PROTEIN Asterisk 610730 CHAPERONIN-CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 6B; CCT6B CHAPERONIN-CONTAINING TCP1, SUBUNIT 6B;; CCT-ZETA 2; CCTZ2 Asterisk 610731 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 7; ANKRD7 Asterisk 610732 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 12; TTC12 TPARM Number Sign 610733 NOONAN SYNDROME 4; NS4 Asterisk 610734 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; ANKRD2 ANKYRIN REPEAT PROTEIN WITH PEST MOTIF AND PROLINE-RICH REGION; ARPP Asterisk 610735 MYOZENIN 3; MYOZ3 CALSARCIN 3;; FATZ-RELATED PROTEIN 3; FRP3 Asterisk 610736 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 23; ANKRD23 DIABETES-RELATED ANKYRIN REPEAT PROTEIN; DARP Asterisk 610737 KINASE SUPPRESSOR OF RAS 2; KSR2 Number Sign 610738 NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 KOSTMANN DISEASE;; AGRANULOCYTOSIS, INFANTILE Asterisk 610739 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6A; TNRC6A GLYCINE/TRYPTOPHAN REPEAT PROTEIN, 182-KD; GW182;; KIAA1460 Asterisk 610740 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6B; TNRC6B KIAA1093 Asterisk 610741 TRINUCLEOTIDE REPEAT-CONTAINING GENE 6C; TNRC6C KIAA1582 Asterisk 610742 MOLONEY LEUKEMIA VIRUS 10, MOUSE, HOMOLOG OF; MOV10 KIAA1631 Number Sign 610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 ATAXIA, RECESSIVE, OF BEAUCE;; CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1; ARCA1 Percent 610744 IRIS PATTERN Asterisk 610745 STIMULATED BY RETINOIC ACID 6; STRA6 Asterisk 610746 DOLICHOL KINASE; DOLK DOLICHOL KINASE 1; DK1;; SEC59, YEAST, HOMOLOG OF; SEC59;; KIAA1094;; TRANSMEMBRANE PROTEIN 15, FORMERLY; TMEM15, FORMERLY Asterisk 610747 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 4A; SAMD4A SMAUG, DROSOPHILA, HOMOLOG OF, 1; SMAUG1;; KIAA1053 Asterisk 610748 UBIQUITIN-SPECIFIC PROTEASE 28; USP28 KIAA1515 Asterisk 610749 KELCH-LIKE 31; KLHL31 KLHL Asterisk 610750 ZINC FINGER CCHC DOMAIN- AND RNA-BINDING MOTIF-CONTAINING PROTEIN 1; ZCRB1 MADP1;; U11/U12 snRNP, 31-KD SUBUNIT Asterisk 610751 PHOSPHORIBOSYL TRANSFERASE DOMAIN-CONTAINING PROTEIN 1; PRTFDC1 Asterisk 610752 URONYL 2-SULFOTRANSFERASE; UST URONOSYL 2-O-SULFOTRANSFERASE; 2OST Percent 610753 ALOPECIA AREATA 2; AA2 Asterisk 610754 WINGS APART-LIKE PROTEIN, DROSOPHILA, HOMOLOG OF; WAPL KIAA0261;; WAPAL;; FRIEND OF EBNA2; FOE Number Sign 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4 Number Sign 610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2 Asterisk 610757 CHEMOKINE, CC MOTIF, LIGAND 4-LIKE 2; CCL4L2 Number Sign 610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 Number Sign 610759 CORNELIA DE LANGE SYNDROME 3; CDLS3 Percent 610760 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 CLQTL2 Percent 610761 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5 HDLCQ5 Number Sign 610762 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; HDLCQ6 Asterisk 610763 N-ACETYLNEURAMINIC ACID PHOSPHATASE; NANP Neu5Ac-9-PHOSPHATE PHOSPHATASE HALOACID DEHALOGENASE-LIKE HYDROLASE DOMAIN-CONTAINING PROTEIN-4; HDHD4 Asterisk 610764 BENZODIAZAPINE RECEPTOR (PERIPHERAL)-ASSOCIATED PROTEIN 1; BZRAP1 PERIPHERAL BENZODIAZAPINE RECEPTOR-ASSOCIATED PROTEIN 1; PRAX1;; RIMS-BINDING PROTEIN 1; RIMBP1;; KIAA0612 Caret 610765 MOVED TO 602400 Asterisk 610766 MEIOSIS-SPECIFIC NUCLEAR STRUCTURAL PROTEIN 1; MNS1 FLJ11222 Asterisk 610767 AUTOPHAGY 16-LIKE 1; ATG16L1 APG16-LIKE; APG16L Number Sign 610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M CDG Im; CDGIm;; DOLICHOL KINASE DEFICIENCY;; DK1 DEFICIENCY Asterisk 610769 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; NOC3L FACTOR FOR ADIPOCYTE DIFFERENTIATION 24; FAD24 Asterisk 610770 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 2, S. CEREVISIAE, HOMOLOG OF; NOC2L NOVEL INHAT REPRESSOR; NIR Asterisk 610771 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 5; CHD5 Asterisk 610772 NK6 HOMEOBOX 3; NKX6-3 NK6, DROSOPHILA, HOMOLOG OF, 3;; NKX6.3 Number Sign 610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY MPCD Asterisk 610774 CANOPY FGF SIGNALING REGULATOR 3; CNPY3 CANOPY 3, ZEBRAFISH, HOMOLOG OF;; TRINUCLEOTIDE REPEAT-CONTAINING GENE 5; TNRC5;; PROTEIN ASSOCIATED WITH TOLL-LIKE RECEPTOR 4, A; PRAT4A;; PROTEIN ASSOCIATED WITH TLR4, A;; EXPANDED REPEAT DOMAIN, CAG/CTG, 5; ERDA5 Asterisk 610775 TP53-INDUCED GLYCOLYSIS AND APOPTOSIS REGULATOR; TIGAR CHROMOSOME 12 OPEN READING FRAME 5; C12ORF5 Asterisk 610776 DAMAGE-REGULATED AUTOPHAGY MODULATOR 1; DRAM1 DRAM Asterisk 610777 NEUROGUIDIN; NGDN NGD Asterisk 610778 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-1-LIKE; GNB1L WD REPEAT-CONTAINING PROTEIN 14; WDR14 Asterisk 610779 NUCLEOTIDE-BINDING PROTEIN 2; NUBP2 CYTOSOLIC Fe-S CLUSTER DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF; CFD1 Asterisk 610780 LARGE SUBUNIT GTPase 1, S. CEREVISIAE, HOMOLOG OF; LSG1 Asterisk 610781 GUANOSINE MONOPHOSPHATE REDUCTASE 2; GMPR2 GMP REDUCTASE 2 Asterisk 610782 MICRO RNA 29A; MIR29A miRNA29A;; MIRN29A Asterisk 610783 MICRO RNA 29B1; MIR29B1 miRNA29B1;; MIRN29B1 Asterisk 610784 MICRO RNA 29C; MIR29C miRNA29C;; MIRN29C Asterisk 610785 PDLIM1-INTERACTING KINASE 1-LIKE; PDIK1L Asterisk 610786 SRC KINASE SIGNALING INHIBITOR 1; SRCIN1 SNAP25-INTERACTING PROTEIN; SNIP;; KIAA1684 Asterisk 610787 PRAC2 SMALL NUCLEAR PROTEIN; PRAC2 PROSTATE, RECTUM, AND COLON GENE 2;; HOMEOBOX B CLUSTER ANTISENSE RNA 5; HOXBAS5 Asterisk 610788 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER), MEMBER B2; SLC35B2 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER 1; PAPST1;; PAPS TRANSPORTER 1;; SLALOM, DROSOPHILA, HOMOLOG OF; SLL Asterisk 610789 p53 AND DNA DAMAGE-REGULATED 1; PDRG1 PDRG;; CHROMOSOME 20 OPEN READING FRAME 126; C20ORF126 Asterisk 610790 SOLUTE CARRIER FAMILY 35, MEMBER B1; SLC35B1 UDP-GALACTOSE TRANSPORTER-RELATED 1; UGTREL1 Asterisk 610791 SOLUTE CARRIER FAMILY 43 (L-TYPE AMINO ACID TRANSPORTER), MEMBER 2; SLC43A2 L-TYPE AMINO ACID TRANSPORTER 4; LAT4 Asterisk 610792 SOLUTE CARRIER FAMILY 22, MEMBER 25; SLC22A25 ORGANIC ANION TRANSPORTER UST6; UST6 Asterisk 610793 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, KIDNEY), MEMBER 30; SLC25A30 KIDNEY MITOCHONDRIAL CARRIER PROTEIN 1; KMCP1 Asterisk 610794 ZINC FINGER PROTEIN 323; ZNF323 Asterisk 610795 SORBIN AND SH3 DOMAINS-CONTAINING PROTEIN 3; SORBS3 SH3 DOMAIN-CONTAINING ADAPTOR MOLECULE 1; SCAM1;; SH3D4 VINEXIN-ALPHA, INCLUDED;; VINEXIN-BETA, INCLUDED Asterisk 610796 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER 31; SLC25A31 ADENINE NUCLEOTIDE TRANSLOCATOR 4; ANT4;; ADP/ATP CARRIER 4; AAC4 NULL 610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE Number Sign 610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN Number Sign 610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED Asterisk 610800 AUTOPHAGY 10, S. CEREVISIAE, HOMOLOG OF; ATG10 APG10, S. CEREVISIAE, HOMOLOG OF; APG10 Asterisk 610801 SOLUTE CARRIER FAMILY 41, MEMBER 1; SLC41A1 Asterisk 610802 SOLUTE CARRIER FAMILY 41, MEMBER 2; SLC41A2 Asterisk 610803 SOLUTE CARRIER FAMILY 41, MEMBER 3; SLC41A3 Asterisk 610804 SOLUTE CARRIER FAMILY 35 (UDP-GLUCURONIC ACID/UDP-N-ACETYLGALACTOSAMINE DUAL TRANSPORTER), MEMBER D1; SLC35D1 UDP-GALACTOSE TRANSPORTER-RELATED 7; UGTREL7;; KIAA0260 Number Sign 610805 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1; RHDNS1 Asterisk 610806 TBC1 DOMAIN FAMILY, MEMBER 3C; TBC1D3C Asterisk 610807 TBC1 DOMAIN FAMILY, MEMBER 3D; TBC1D3D Asterisk 610808 TBC1 DOMAIN FAMILY, MEMBER 3E; TBC1D3E Asterisk 610809 TBC1 DOMAIN FAMILY, MEMBER 3F; TBC1D3F Asterisk 610810 TBC1 DOMAIN FAMILY, MEMBER 3G; TBC1D3G Asterisk 610811 TBC1 DOMAIN FAMILY, MEMBER 3H; TBC1D3H Asterisk 610812 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF; HYDIN HYDIN1 Asterisk 610813 HYDROCEPHALUS-INDUCING, MOUSE, HOMOLOG OF, 2; HYDIN2 HYDIN, MOUSE, HOMOLOG OF, 2;; KIAA1864 Caret 610814 MOVED TO 601186 Asterisk 610815 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, FOLATE), MEMBER 32; SLC25A32 MITOCHONDRIAL FOLATE TRANSPORTER; MFT Asterisk 610816 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PYRIMIDINE NUCLEOTIDE TRANSPORTER), MEMBER 33; SLC25A33 BONE MARROW STROMAL CELL MITOCHONDRIAL CARRIER PROTEIN; BMSCMCP;; PYRIMIDINE NUCLEOTIDE CARRIER 1; PNC1 Asterisk 610817 SOLUTE CARRIER FAMILY 25, MEMBER 34; SLC25A34 Asterisk 610818 SOLUTE CARRIER FAMILY 25, MEMBER 35; SLC25A35 Asterisk 610819 SOLUTE CARRIER FAMILY 25, MEMBER 38; SLC25A38 Asterisk 610820 SOLUTE CARRIER FAMILY 25, MEMBER 39; SLC25A39 CGI69 Asterisk 610821 SOLUTE CARRIER FAMILY 25, MEMBER 40; SLC25A40 Asterisk 610822 SOLUTE CARRIER FAMILY 25, MEMBER 41; SLC25A41 Asterisk 610823 SOLUTE CARRIER FAMILY 25, MEMBER 42; SLC25A42 Asterisk 610824 SOLUTE CARRIER FAMILY 25, MEMBER 44; SLC25A44 Asterisk 610825 SOLUTE CARRIER FAMILY 25, MEMBER 45; SLC25A45 Asterisk 610826 SOLUTE CARRIER FAMILY 25, MEMBER 46; SLC25A46 Asterisk 610827 ZINC FINGER PROTEIN 335; ZNF335 NRC-INTERACTING FACTOR; NIF1 NIF2, INCLUDED Number Sign 610828 HOLOPROSENCEPHALY 7; HPE7 Number Sign 610829 HOLOPROSENCEPHALY 9; HPE9 PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES;; HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES NULL 610830 POLYOSTEOLYSIS-HYPEROSTOSIS SYNDROME Asterisk 610831 TBC1 DOMAIN FAMILY, MEMBER 10C; TBC1D10C CARABIN Number Sign 610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN Asterisk 610833 N-ACETYLTRANSFERASE 5; NAT5 NAT3, S. CEREVISIAE, HOMOLOG OF Asterisk 610834 N-ACETYLTRANSFERASE 13; NAT13 NAT5, S. CEREVISIAE, HOMOLOG OF;; SAN, DROSOPHILA, HOMOLOG OF Asterisk 610835 NMDA RECEPTOR-REGULATED 2; NARG2 Percent 610836 AUTISM, SUSCEPTIBILITY TO, 11; AUTS11 Asterisk 610837 BCL2-LIKE 12; BCL2L12 Percent 610838 AUTISM, SUSCEPTIBILITY TO, 12; AUTS12 Percent 610839 OSTEOARTHRITIS SUSCEPTIBILITY 4; OS4 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1 Percent 610840 MITRAL VALVE PROLAPSE 3; MVP3 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3;; MYXOMATOUS MITRAL VALVE PROLAPSE 3 Asterisk 610841 STROMAL INTERACTION MOLECULE 2; STIM2 KIAA1482 Number Sign 610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY Asterisk 610843 UBIQUINOL-CYTOCHROME C REDUCTASE, COMPLEX III SUBUNIT X; UQCR10 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX, 7.2-KD SUBUNIT; UCRC;; CYTOCHROME C1-ASSOCIATED PROTEIN Asterisk 610844 SPG11 GENE; SPG11 SPATACSIN;; KIAA1840;; FLJ21439 Asterisk 610845 SOLUTE CARRIER FAMILY 35 (3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER), MEMBER B3; SLC35B3 3-PRIME-PHOSPHOADENOSINE 5-PRIME-PHOSPHOSULFATE TRANSPORTER; PAPST2;; PAPS TRANSPORTER 2 Asterisk 610846 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 10; LRRC10 HEART-RESTRICTED LEUCINE-RICH REPEAT PROTEIN; HRLRRP Asterisk 610847 ZINC FINGER PROTEIN 322A; ZNF322A ZINC FINGER PROTEIN 489; ZNF489;; ZNF322 Asterisk 610848 RAB15 EFFECTOR PROTEIN; REP15 Asterisk 610849 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 6; TTLL6 Asterisk 610850 XPA-BINDING PROTEIN 2; XAB2 Asterisk 610851 CHROMOSOME 4 OPEN READING FRAME 16; C4ORF16 GAMMA-1 ADAPTIN BREFELDIN-A RESISTANCE PROTEIN; GBAR;; 2C18 Number Sign 610852 CILIARY DYSKINESIA, PRIMARY, 6; CILD6 Asterisk 610853 AT HOOK-CONTAINING TRANSCRIPTION FACTOR 1; AHCTF1 EMBRYONIC LARGE MOLECULE DERIVED FROM YOLK SAC; ELYS Caret 610854 MOVED TO 610682 Asterisk 610855 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26; ANKRD26 KIAA1074 Asterisk 610856 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30A; ANKRD30A BREAST CANCER ANTIGEN NY-BR-1 Asterisk 610857 SMALL BREAST EPITHELIAL MUCIN SBEM Asterisk 610858 RNA TRANSCRIPTION, TRANSLATION, AND TRANSPORT FACTOR; RTRAF CHROMOSOME 14 OPEN READING FRAME 166; C14ORF166;; CGI99;; CLE Asterisk 610859 CAPPING PROTEIN REGULATOR AND MYOSIN 1 LINKER 2; CARMIL2 RGD-, LEUCINE-RICH REPEAT-, TROPOMODULIN DOMAIN-, AND PROLINE-RICH DOMAIN-CONTAINING PROTEIN; RLTPR Asterisk 610860 AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFERASE; AGL GLYCOGEN DEBRANCHER ENZYME; GDE Asterisk 610861 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 3; SYNE3 NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 3; NESP3;; NESPRIN 3;; CHROMOSOME 14 OPEN READING FRAME 49; C14ORF49 Asterisk 610862 DELTA(4)-DESATURASE, SPHINGOLIPID, 2; DEGS2 DEGENERATIVE SPERMATOCYTE, DROSOPHILA, HOMOLOG OF, 2;; DES2, MOUSE, HOMOLOG OF;; SPHINGOLIPID DELTA-4-DESATURASE/C4-HYDROXYLASE Asterisk 610863 GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-4; GNB4 G PROTEIN, BETA-4 SUBUNIT; G BETA-4 Asterisk 610864 LQK1 PROTEIN LQK1 Asterisk 610865 FELINE LEUKEMIA VIRUS SUBGROUP C RECEPTOR 2; FLVCR2 FLVCR-LIKE ON CHROMOSOME 14q; FLVCRL14q;; CALCIUM CHELATE TRANSPORTER; CCT;; CHROMOSOME 14 OPEN READING FRAME 58; C14ORF58 Asterisk 610866 URIDINE/CYTIDINE KINASE-LIKE 1; UCKL1 URKL1;; UCK1-LIKE; UCK1L Asterisk 610867 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 1: LRRTM1 Asterisk 610868 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 2; LRRTM2 KIAA0416 Asterisk 610869 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 3; LRRTM3 Asterisk 610870 LEUCINE-RICH REPEAT TRANSMEMBRANE PROTEIN 4; LRRTM4 NULL 610871 SAKODA COMPLEX SPHENOETHMOIDAL ENCEPHALOMENINGOCELE, AGENESIS OF THE CORPUS CALLOSUM, AND CLEFT LIP/PALATE SAKODA SPECTRUM, INCLUDED Asterisk 610872 IBR DOMAIN-CONTAINING PROTEIN 3; IBRDC3 NATURAL KILLER LYTIC-ASSOCIATED MOLECULE; NKLAM Percent 610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1 Asterisk 610874 SPERMATOGENESIS AND CENTRIOLE-ASSOCIATED 1; SPATC1 SPERIOLIN Asterisk 610875 SAPS DOMAIN FAMILY, MEMBER 1; SAPS1 PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 1; PP6R1;; KIAA1115 Asterisk 610876 HECT DOMAIN- AND ANKYRIN REPEAT-CONTAINING E3 UBIQUITIN PROTEIN LIGASE 1; HACE1 KIAA1320 Asterisk 610877 SAPS DOMAIN FAMILY, MEMBER 2; SAPS2 PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 2; PP6R2;; KIAA0685 Number Sign 610878 VESICOURETERAL REFLUX 2; VUR2 Asterisk 610879 SAPS DOMAIN FAMILY, MEMBER 3; SAPS3 PROTEIN PHOSPHATASE 6, REGULATORY SUBUNIT 3; PP6R3;; CHROMOSOME 11 OPEN READING FRAME 23; C11ORF23;; KIAA1558 Asterisk 610880 CHROMOSOME 11 OPEN READING FRAME 24; C11ORF24 Asterisk 610881 LYSINE-SPECIFIC METHYLTRANSFERASE 5B; KMT5B SUPPRESSOR OF VARIEGATION 4-20, DROSOPHILA, HOMOLOG OF, 1; SUV420H1;; SU(VAR)4-20, DROSOPHILA, HOMOLOG OF, 1;; CGI85 Asterisk 610882 SJOGREN SYNDROME NUCLEAR AUTOANTIGEN 1; SSNA1 NUCLEAR AUTOANTIGEN, 14-KD; NA14 Number Sign 610883 POTOCKI-LUPSKI SYNDROME; PTLS CHROMOSOME 17p11.2 DUPLICATION SYNDROME Asterisk 610884 CHROMOSOME 19 OPEN READING FRAME 40; C19ORF40 FANCONI ANEMIA-ASSOCIATED PROTEIN, 24-KD; FAAP24 Asterisk 610885 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 1; EME1 EME1, S. POMBE, HOMOLOG OF, 1 Asterisk 610886 ESSENTIAL MEIOTIC ENDONUCLEASE 1, S. POMBE, HOMOLOG OF, 2; EME2 EME1, S. POMBE, HOMOLOG OF, 2 Asterisk 610887 POLYMERASE, DNA, NU; POLN DNA POLYMERASE N;; POL4P Asterisk 610888 GASTRIC CANCER-RELATED GENE 224 GCRG224 Asterisk 610889 IMPORTIN 11; IPO11 RAN-BINDING PROTEIN 11; RANBP11 SYNLEURIN, INCLUDED; SLRN, INCLUDED Asterisk 610890 REGULATOR OF G PROTEIN SIGNALING 7-BINDING PROTEIN; RGS7BP R7-BINDING PROTEIN; R7BP Asterisk 610891 FAMILY WITH SEQUENCE SIMILARITY 102, MEMBER A; FAM102A EARLY ESTROGEN-INDUCED GENE 1; EEIG1 Asterisk 610892 SYNAPTOTAGMIN 14-LIKE PROTEIN; SYT14L SYTDEP;; CHR415SYT Asterisk 610893 CHMP FAMILY, MEMBER 2A; CHMP2A CHROMATIN-MODIFYING PROTEIN 2A;; CHARGED MULTIVESICULAR BODY PROTEIN 2A;; VACUOLAR PROTEIN SORTING 2, YEAST, HOMOLOG OF, A; VPS2A;; VPS2;; BC2 Asterisk 610894 NEUREGULIN 4; NRG4 HEREGULIN 4; HRG4 Asterisk 610895 WAP, FOLLISTATIN, IMMUNOGLOBULIN, KUNITZ, AND NTR DOMAINS-CONTAINING PROTEIN 2; WFIKKN2 WFIKKN RELATED-PROTEIN; WFIKKNRP;; GDF-ASSOCIATED SERUM PROTEIN 1; GASP1 Number Sign 610896 BRANCHIOOTORENAL SYNDROME 2; BOR2 Asterisk 610897 CHMP FAMILY, MEMBER 4B; CHMP4B CHROMATIN-MODIFYING PROTEIN 4B;; CHARGED MULTIVESICULAR BODY PROTEIN 4B;; SNF7, YEAST, HOMOLOG OF, 2;; SNF7-2 Percent 610898 SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3 Asterisk 610899 CHMP FAMILY, MEMBER 4C; CHMP4C CHROMATIN-MODIFYING PROTEIN 4C;; CHARGED MULTIVESICULAR BODY PROTEIN 4C;; SNF7, YEAST, HOMOLOG OF, 3;; SNF7-3 Asterisk 610900 CHMP FAMILY, MEMBER 5; CHMP5 CHROMATIN-MODIFYING PROTEIN 5;; CHARGED MULTIVESICULAR BODY PROTEIN 5;; HSPC177 Asterisk 610901 CHMP FAMILY, MEMBER 6; CHMP6 CHROMATIN-MODIFYING PROTEIN 6;; CHARGED MULTIVESICULAR BODY PROTEIN 6;; VPS20, YEAST, HOMOLOG OF; VPS20 Asterisk 610902 CHROMOSOME 6 OPEN READING FRAME 55; C6ORF55 SKD1-BINDING PROTEIN 1; SBP1;; LYST-INTERACTING PROTEIN 5; LIP5;; VTA1, YEAST, HOMOLOG OF; VTA1;; DOPAMINE-RESPONSIVE GENE 1; DRG1 Asterisk 610903 VACUOLAR PROTEIN SORTING 36, S. CEREVISIAE, HOMOLOG OF; VPS36 ELL-ASSOCIATED PROTEIN, 45-KD; EAP45 Asterisk 610904 SNF8, S. CEREVISIAE, HOMOLOG OF; SNF8 VACUOLAR PROTEIN SORTING 22, S. CEREVISIAE, HOMOLOG OF; VPS22;; ELL-ASSOCIATED PROTEIN, 30-KD; EAP30 Caret 610905 MOVED TO 225750 Percent 610906 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 ASRT4;; ASTHMA AND ALLERGIC RHINITIS, SUSCEPTIBILITY TO Asterisk 610907 VACUOLAR PROTEIN SORTING 25, S. CEREVISIAE, HOMOLOG OF; VPS25 ELL-ASSOCIATED PROTEIN, 20-KD; EAP20 Percent 610908 AUTISM, SUSCEPTIBILITY TO, 13; AUTS13 Asterisk 610909 MINICHROMOSOME MAINTENANCE COMPLEX-BINDING PROTEIN; MCMBP CHROMOSOME 10 OPEN READING FRAME 119; C10ORF119 Percent 610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED PAP, ACQUIRED;; PULMONARY ALVEOLAR LIPOPROTEINOSIS, ACQUIRED;; PULMONARY ALVEOLAR PROTEINOSIS, AUTOIMMUNE Asterisk 610911 RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31 CDC42 GTPase-ACTIVATING PROTEIN; CDGAP;; KIAA1204 Asterisk 610912 AMELOTIN; AMTN Number Sign 610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY;; DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN C DEFICIENCY;; PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2 Asterisk 610914 ECTO-NOX DISULFIDE-THIOL EXCHANGER 1; ENOX1 CNOX Number Sign 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 OI, TYPE VIII Asterisk 610916 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 2; NSUN2 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 2;; TRM4, S. CEREVISIAE, HOMOLOG OF; TRM4;; SUBSTRATE OF AIM1/AURORA KINASE B; SAKI;; MYC-INDUCED SUN DOMAIN-CONTAINING PROTEIN; MISU Asterisk 610917 RAS-ASSOCIATED PROTEIN 34; RAB34 RAH, MOUSE, HOMOLOG OF; RAH Asterisk 610918 SELENOPROTEIN M; SELENOM SELM;; SEPM Asterisk 610919 GTP-BINDING PROTEIN 5; GTPBP5 OBGH1 Asterisk 610920 GTP-BINDING PROTEIN 10; GTPBP10 OBGH2 Number Sign 610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3 PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3;; INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY Asterisk 610922 NUCLEAR PORE ASSOCIATED PROTEIN 1; NPAP1 CHROMOSOME 15 OPEN READING FRAME 2; C15ORF2 Asterisk 610923 SOLUTE CARRIER FAMILY 35 (UDP-XYLOSE/UDP-N-ACETYLGLUCOSAMINE TRANSPORTER), MEMBER B4; SLC35B4 Asterisk 610924 RANBP-TYPE AND C3HC4-TYPE ZINC FINGER-CONTAINING 1; RBCK1 RBCC PROTEIN INTERACTING WITH PKC 1;; HEME-OXIDIZED IRP2 UBIQUITIN LIGASE 1; HOIL1;; HOIL1L;; HEPATITIS B VIRUS X-ASSOCIATED PROTEIN 3; XAP3 Asterisk 610925 INTERLEUKIN 17 RECEPTOR C; IL17RC INTERLEUKIN 17 RECEPTOR-LIKE PROTEIN; IL17RL Percent 610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5 HYPODONTIA/OLIGODONTIA 5;; HE-ZHAO DEFICIENCY Number Sign 610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9; SLEB9 Asterisk 610928 SRY-BOX 17; SOX17 SRY-RELATED HMG-BOX GENE 17 Asterisk 610929 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 2; ORAI2 TRANSMEMBRANE PROTEIN 142B; TMEM142B;; CHROMOSOME 7 OPEN READING FRAME 19; C7ORF19 Asterisk 610930 ORAI CALCIUM RELEASE-ACTIVATED CALCIUM MODULATOR 3; ORAI3 TRANSMEMBRANE PROTEIN 142C; TMEM142C Asterisk 610931 ZINC FINGER GENE IN AUTOIMMUNE THYROID DISEASE 1; ZFAT1 ZINC FINGER PROTEIN 406; ZNF406 Asterisk 610932 TWINFILIN, DROSOPHILA, HOMOLOG OF, 1; TWF1 PROTEIN TYROSINE KINASE 9; PTK9;; A6 PROTEIN TYROSINE KINASE Asterisk 610933 LEUCINE-RICH REPEAT- AND STERILE ALPHA MOTIF-CONTAINING 1; LRSAM1 TSG101-ASSOCIATED LIGASE; TAL;; RING ZINC FINGER AND LEUCINE-RICH REPEAT-CONTAINING PROTEIN; RIFLE Asterisk 610934 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX Asterisk 610935 LIGAND-GATED ION CHANNEL, ZINC-ACTIVATED, 1; LGICZ1 Zn(2+)-ACTIVATED CHANNEL; ZAC;; L2 Asterisk 610936 PHOSPHOSERINE AMINOTRANSFERASE 1; PSAT1 PSAT;; ENDOMETRIAL PROGESTERONE-INDUCED PROTEIN; EPIP Asterisk 610937 RPGRIP1-LIKE; RPGRIP1L NEPHROCYSTIN 8; NPHP8;; KIAA1005 Number Sign 610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7; CHDS7 Asterisk 610939 MICRO RNA 192; MIR192 miRNA192;; MIRN192 Asterisk 610940 MICRO RNA 194-1; MIR194-1 miRNA194-1;; MIRN194-1 Asterisk 610941 MICRO RNA 194-2; MIR194-2 miRNA194-2;; MIRN194-2 Asterisk 610942 MICRO RNA 204; MIR204 miRNA204;; MIRN204 Asterisk 610943 MICRO RNA 215; MIR215 miRNA215;; MIRN215 Asterisk 610944 MICRO RNA 216; MIR216 miRNA216;; MIRN216 Asterisk 610945 MICRO RNA 296; MIR296 miRNA296;; MIRN296 Asterisk 610946 MICRO RNA 133B; MIR133B miRNA133B;; MIRN133B Number Sign 610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2 Percent 610948 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7 HYT7 Asterisk 610949 SYNAPTOTAGMIN 14; SYT14 Asterisk 610950 SYNAPTOTAGMIN 16; SYT16 SYNAPTOTAGMIN 14-RELATED PROTEIN; STREP14 Number Sign 610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 Asterisk 610952 CROOKED NECK PRE-mRNA SPLICING FACTOR-LIKE 1; CRNKL1 CROOKED NECK, DROSOPHILA, HOMOLOG OF; CRN Asterisk 610953 PIF1, S. CEREVISIAE, HOMOLOG OF; PIF1 PIF Number Sign 610954 PITT-HOPKINS SYNDROME; PTHS ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;; MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION Asterisk 610955 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 3; TRAPPC3 BET3, YEAST, HOMOLOG OF; BET3 Asterisk 610956 ASPARTYL-tRNA SYNTHETASE 2; DARS2 ASPARTYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-ASPRS Asterisk 610957 TYROSYL-tRNA SYNTHETASE 2; YARS2 TYROSYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-TYRRS Asterisk 610958 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 9; AGPAT9 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE 3; GPAT3;; GPAT, ENDOPLASMIC RETICULUM-ASSOCIATED;; LUNG CANCER METASTASIS-ASSOCIATED GENE 1; MAG1;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, THETA;; LPAAT-THETA Asterisk 610959 MICRO RNA 376A1; MIR376A1 miRNA376A1;; MIRN376A1 Asterisk 610960 MICRO RNA 376A2; MIR376A2 miRNA376A2;; MIRN376A2 Asterisk 610961 MICRO RNA 376B; MIR376B miRNA376B;; MIRN376B; MIR376B Asterisk 610962 SMG5, C. ELEGANS, HOMOLOG OF; SMG5 EVER SHORTER TELOMERES 1, S. CEREVISIAE, HOMOLOG OF, B; EST1B;; KIAA1089 Asterisk 610963 SMG6, C. ELEGANS, HOMOLOG OF; SMG6 EVER SHORTER TELOMERES 1, S. CEREVISIAE, HOMOLOG OF, A; EST1A;; KIAA0732 Asterisk 610964 SMG7, C. ELEGANS, HOMOLOG OF; SMG7 EVER SHORTER TELOMERES 1, S. CEREVISIAE, HOMOLOG OF, C; EST1C;; KIAA0250 Number Sign 610965 XFE PROGEROID SYNDROME; XFEPS XPF-ERCC1 PROGEROID SYNDROME Asterisk 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO FATSO, MOUSE, HOMOLOG OF Number Sign 610967 OSTEOGENESIS IMPERFECTA, TYPE V; OI5 OI, TYPE V Number Sign 610968 OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 OI, TYPE XI Asterisk 610969 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 1; TRAPPC1 BET5, S. CEREVISIAE, HOMOLOG OF;; MELANOMA UBIQUITOUS MUTATED 2; MUM2 Asterisk 610970 TRAFFICKING PROTEIN PARTICLE COMPLEX 2-LIKE; TRAPPC2L Asterisk 610971 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 4; TRAPPC4 SYNBINDIN Asterisk 610972 ADHERENS JUNCTION-ASSOCIATED PROTEIN 1; AJAP1 SHREW1 Asterisk 610973 MEMBRANE PROTEIN, PALMITOYLATED 7; MPP7 Asterisk 610974 ZINC FINGER PROTEIN 521; ZNF521 EARLY HEMATOPOIETIC ZINC FINGER; EHZF;; EVI3, MOUSE, HOMOLOG OF Asterisk 610975 SKIN-, EMBRYO-, BRAIN-, AND OOCYTE-SPECIFIC HOMEOBOX SEBOX;; OG9 Asterisk 610976 APOLIPOPROTEIN B mRNA EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3H; APOBEC3H APOBEC-RELATED PROTEIN 10; ARP10 Asterisk 610977 TETRACYCLINE TRANSPORTER-LIKE PROTEIN TETRAN;; TPO1, S. CEREVISIAE, HOMOLOG OF; TPO1 Number Sign 610978 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP BRAIN-LUNG-THYROID SYNDROME Asterisk 610979 DIPHOSPHOINOSITOL PENTAKISPHOSPHATE KINASE 1; PPIP5K1 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 2A; HISPPD2A;; INOSITOL PYROPHOSPHATE SYNTHASE 1; IPS1;; IP6 KINASE: IP6K;; VIP1;; KIAA0377 Asterisk 610980 KCNQ1 DOWNSTREAM NEIGHBOR; KCNQ1DN Asterisk 610981 WWBP2 N-TERMINAL-LIKE PROTEIN; WBP2NL POSTACROSOMAL SHEATH WW DOMAIN-BINDING PROTEIN; PAWP Asterisk 610982 INVERTED FORMIN 2; INF2 FORMIN, INVERTED, 2;; CHROMOSOME 14 OPEN READING FRAME 173; C14ORF173 Asterisk 610983 MICRO RNA 376C; MIR376C miRNA376C;; MIRN376C;; MICRO RNA 368; MIR368; MIRN368;; miRNA368 Number Sign 610984 COMPLEMENT FACTOR I DEFICIENCY; CFID COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY;; C3 INACTIVATOR DEFICIENCY Asterisk 610985 UBIQUITIN E2 VARIANT AND LACTATE/MALATE DEHYDROGENASE DOMAINS-CONTAINING PROTEIN; UEVLD UEV2 AND LDH DOMAINS-CONTAINING PROTEIN;; UBIQUITIN-CONJUGATING ENZYME E2 VARIANT 3; UEV3;; ATTP Asterisk 610986 LEUCINE-RICH REPEAT KINASE 1; LRRK1 Asterisk 610987 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2C; ASAH2C NONLYSOSOMAL CERAMIDASE C;; CERAMIDASE, NONLYSOSOMAL, C;; ASAH2-LIKE; ASAH2L Number Sign 610988 LEPROSY, SUSCEPTIBILITY TO, 4; LPRS4 LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO, INCLUDED Asterisk 610989 LEMUR TYROSINE KINASE 2; LMTK2 KINASE/PHOSPHATASE INHIBITOR 2; KPI2;; BRAIN-ENRICHED KINASE; BREK;; KIAA1079 Asterisk 610990 PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT 18; PPP1R18 KIAA1949 GENE; KIAA1949;; PROTEIN PHOSPHATASE 1 F-ACTIN CYTOSKELETON-TARGETING SUBUNIT;; PHOSTENSIN Asterisk 610991 OBSCURIN-LIKE 1; OBSL1 KIAA0657 Number Sign 610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD PSAT DEFICIENCY Asterisk 610993 UBIQUITIN-SPECIFIC PROTEASE 44; USP44 Asterisk 610994 TRANSMEMBRANE PROTEIN 189; TMEM189 KUA KUA/UEV1 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED Asterisk 610995 PRENYLCYSTEINE OXIDASE 1; PCYOX1 PRENYLCYSTEINE LYASE; PCL1;; KIAA0908 Asterisk 610996 D-TYROSYL-tRNA DEACYLASE 1, S. CEREVISIAE, HOMOLOG OF; DTD1 CHROMOSOME 20 OPEN READING FRAME 88; C20ORF88 Number Sign 610997 PROSTATE CANCER, HEREDITARY, 9; HPC9 Asterisk 610998 METEORIN; METRN Asterisk 610999 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 1; EPC1 Asterisk 611000 ENHANCER OF POLYCOMB, DROSOPHILA, HOMOLOG OF, 2; EPC2 EPC-LIKE Asterisk 611001 MYST/ESA1-ASSOCIATED FACTOR 6; MEAF6 EAF6, S. CEREVISIAE, HOMOLOG OF; EAF6;; CHROMOSOME 1 OPEN READING FRAME 149; C1ORF149 Asterisk 611002 TRANSMEMBRANE PROTEIN 204; TMEM204 CLAUDIN-LIKE PROTEIN, 24-KD; CLP24;; CHROMOSOME 16 OPEN READING FRAME 30; C16ORF30 Percent 611003 SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1 Percent 611004 SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2 Asterisk 611005 MEX3, C. ELEGANS, HOMOLOG OF, C; MEX3C RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 2; RKHD2 Asterisk 611006 IRON-SULFUR CLUSTER ASSEMBLY 1, S. CEREVISIAE, HOMOLOG OF; ISCA1 HESB-LIKE DOMAIN-CONTAINING 2; HBLD2;; HISCA Asterisk 611007 MEX3, C. ELEGANS, HOMOLOG OF, A; MEX3A Asterisk 611008 MEX3, C. ELEGANS, HOMOLOG OF, B; MEX3B RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 3; RKHD3 Asterisk 611009 MEX3, C. ELEGANS, HOMOLOG OF, D; MEX3D RING FINGER- AND KH DOMAIN-CONTAINING PROTEIN 1; RKHD1;; TINO;; KIAA2031 Percent 611010 FIBROMATOSIS, GINGIVAL, 4; GINGF4 GGF4;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 4; HGF4 Asterisk 611011 TRANSMEMBRANE PROTEIN 259; TMEM259 CHROMOSOME 19 OPEN READING FRAME 6; C19ORF6;; MEMBRALIN Asterisk 611012 REGULATOR OF G PROTEIN SIGNALING-LIKE 1; RGSL1 Asterisk 611013 REGULATOR OF G PROTEIN SIGNALING-LIKE 2; RGSL2 Percent 611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8 Percent 611015 AUTISM, SUSCEPTIBILITY TO, 9; AUTS9 Percent 611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10 Asterisk 611017 TRYPSIN DOMAIN-CONTAINING PROTEIN 1; TYSND1 Asterisk 611018 POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 2B; PAIP2B POLY(A)-BINDING PROTEIN-INTERACTING PROTEIN 2B;; PABP-INTERACTING PROTEIN 2B Asterisk 611019 ATPase, H+ TRANSPORTING, LYSOSOMAL, 9-KD, V0 SUBUNIT E2; ATP6V0E2 Asterisk 611020 MICRO RNA 21; MIR21 miRNA21;; MIRN21 Asterisk 611021 NMD3, S. CEREVISIAE, HOMOLOG OF; NMD3 Number Sign 611022 DEAFNESS, AUTOSOMAL RECESSIVE 24; DFNB24 Asterisk 611023 tRNA METHYLTRANSFERASE 5, S. CEREVISIAE, HOMOLOG OF; TRMT5 TRM5;; KIAA1393 Asterisk 611024 ZINC FINGER PROTEIN 667; ZNF667 MIPU1, RAT, HOMOLOG OF; MIPU1 Asterisk 611025 ENKURIN, TRPC CHANNEL-INTERACTING PROTEIN; ENKUR ENKURIN, MOUSE, HOMOLOG OF;; CHROMOSOME 10 OPEN READING FRAME 63; C10ORF63 Asterisk 611026 FATTY ACID 2-HYDROXYLASE; FA2H FATTY ACID ALPHA-HYDROXYLASE; FAAH;; FATTY ACID HYDROXYLASE DOMAIN-CONTAINING PROTEIN 1; FAXDC1;; FAH1, S. CEREVISIAE, HOMOLOG OF; FAH1;; SCS7, S. CEREVISIAE, HOMOLOG OF; SCS7 Asterisk 611027 SHC SH2 DOMAIN-BINDING PROTEIN 1; SHCBP1 PROTEIN EXPRESSED IN ACTIVATED LYMPHOCYTES; PAL Asterisk 611028 TRANSMEMBRANE PROTEIN 30A; TMEM30A CDC50, S. CEREVISIAE, HOMOLOG OF, A; CDC50A Asterisk 611029 TRANSMEMBRANE PROTEIN 30B; TMEM30B CDC50, S. CEREVISIAE, HOMOLOG OF, B; CDC50B Asterisk 611030 TRANSMEMBRANE PROTEIN 30C; TMEM30C CDC50, S. CEREVISIAE, HOMOLOG OF, C; CDC50C Percent 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2 DYSTONIA 19; DYT19 Asterisk 611032 SPERMATOGENESIS-ASSOCIATED PROTEIN 17; SPATA17 MSRG11 Asterisk 611033 CHROMOSOME 11 OPEN READING FRAME 21; C11ORF21 Asterisk 611034 SOLUTE CARRIER FAMILY 17 (ORGANIC ANION TRANSPORTER), MEMBER 3; SLC17A3 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 3;; NPT4 Asterisk 611035 APRATAXIN- AND PNKP-LIKE FACTOR; APLF APRATAXIN- AND PNK-LIKE FACTOR;; CHROMOSOME 2 OPEN READING FRAME 13; C2ORF13 Asterisk 611036 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 13; SLC2A13 PROTON (H+) MYOINOSITOL SYMPORTER; HMIT Asterisk 611037 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PHOSPHATE CARRIER), MEMBER 26; SLC25A26 S-ADENOSYLMETHIONINE CARRIER PROTEIN; SAMC Number Sign 611038 MICROPHTHALMIA, ISOLATED 3; MCOP3 Asterisk 611039 SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 14; SLC2A14 GLUCOSE TRANSPORTER 14; GLUT14 Number Sign 611040 MICROPHTHALMIA, ISOLATED 5; MCOP5 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN Asterisk 611041 TRIPARTITE MOTIF-CONTAINING PROTEIN 47; TRIM47 GENE OVEREXPRESSED IN ASTROCYTOMA; GOA Asterisk 611042 LATE CORNIFIED ENVELOPE-LIKE PROLINE-RICH 1; LELP1 Asterisk 611043 LIN28, C. ELEGANS, HOMOLOG OF, A; LIN28A LIN28;; ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 1; ZCCHC1 Asterisk 611044 LIN28, C. ELEGANS, HOMOLOG OF, B; LIN28B Asterisk 611045 GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3; G6PC3 UBIQUITOUS GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT-RELATED PROTEIN; UGRP;; GLUCOSE-6-PHOSPHATASE, BETA;; G6Pase-BETA Percent 611046 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 MTBS2 Asterisk 611047 RETINOIC ACID EARLY TRANSCRIPT 1L; RAET1L Asterisk 611048 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15A; PPP1R15A GROWTH ARREST AND DNA-DAMAGE-INDUCIBLE GENE 34; GADD34 Asterisk 611049 SOLUTE CARRIER FAMILY 17, MEMBER 2; SLC17A2 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 2;; NPT3 Asterisk 611050 LEUCINE ZIPPER PROTEIN 6; LUZP6 MYELOPROLIFERATIVE DISEASE-ASSOCIATED ANTIGEN, 6-KD; MPD6 Asterisk 611051 COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50 YMER;; CHROMOSOME 3 OPEN READING FRAME 6; C3ORF6 Asterisk 611052 SET DOMAIN-CONTAINING PROTEIN 1A; SETD1A SET1A;; SET1;; LYSINE-SPECIFIC METHYLTRANSFERASE 2F; KMT2F;; KIAA0339 Asterisk 611053 RUN DOMAIN AND SH3 DOMAIN-CONTAINING PROTEIN 2; RUSC2 KIAA0375;; IPORIN Asterisk 611054 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, F POLYPEPTIDE-INTERACTING PROTEIN ALPHA-1; PPFIA1 LAR-INTERACTING PROTEIN 1; LIP1;; LIPRIN-ALPHA-1 Asterisk 611055 SET DOMAIN-CONTAINING PROTEIN 1B; SETD1B SET1B;; LYSINE-SPECIFIC METHYLTRANSFERASE 2G; KMT2G;; KIAA1076 Asterisk 611056 SELENOCYSTEINE LYASE; SCLY SCL Caret 611057 MOVED TO 603989 Asterisk 611058 PEROXISOME BIOGENESIS FACTOR 5-LIKE; PEX5L PEX5-RELATED PROTEIN; PEX5R;; PXR2B;; TRIP8B Asterisk 611059 WD REPEAT-CONTAINING PROTEIN 82; WDR82 TRANSMEMBRANE PROTEIN 113; TMEM113 Asterisk 611060 SET-BINDING PROTEIN 1; SETBP1 SEB;; KIAA0437 SETBP1/NUP98 FUSION GENE, INCLUDED Asterisk 611061 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER C; FAM20C DENTIN MATRIX PROTEIN 4; DMP4 Asterisk 611062 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER A; FAM20A Asterisk 611063 FAMILY WITH SEQUENCE SIMILARITY 20, MEMBER B; FAM20B KIAA0475 Number Sign 611064 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 ASRT5 Asterisk 611065 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1K; PPM1K PROTEIN PHOSPHATASE, PP2C DOMAIN-CONTAINING, 1K;; PROTEIN PHOSPHATASE 2C, MITOCHONDRIAL; PP2CM;; PP2C-TYPE MITOCHONDRIAL PHOSPHATASE; PTMP;; BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE PHOSPHATASE; BDP Asterisk 611066 PH DOMAIN AND LEUCINE-RICH REPEAT PROTEIN PHOSPHATASE-LIKE; PHLPPL PHLPP-LIKE;; PHLPP2 Number Sign 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4 Asterisk 611068 SMALL NUCLEOLAR RNA, C/D BOX, 43; SNORD43 RNA, U43 SMALL NUCLEOLAR; RNU43;; snoRNA, U43 Asterisk 611069 RNA, U86 SMALL NUCLEOLAR RNU86;; snoRNA, U86 Asterisk 611070 SMALL NUCLEOLAR RNA, C/D BOX, 83A; SNORD83A RNA, U83A SMALL NUCLEOLAR; RNU83A;; snoRNA, U83A Asterisk 611071 SMALL NUCLEOLAR RNA, C/D BOX, 83B; SNORD83B RNA, U83B SMALL NUCLEOLAR; RNU83B;; snoRNA, U83B Asterisk 611072 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 24; DNAJC24 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 4; DPH4;; DPH4, S. CEREVISIAE, HOMOLOG OF Percent 611073 ALZHEIMER DISEASE 12 AD12;; ALZHEIMER DISEASE, FAMILIAL, 12 Asterisk 611074 BRAIN-SPECIFIC HOMEOBOX, MOUSE, HOMOLOG OF; BSX BSX1 Asterisk 611075 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 5; DPH5 DPH5, S. CEREVISIAE, HOMOLOG OF;; HSPC143 Asterisk 611076 5-PRIME-NUCLEOTIDASE DOMAIN-CONTAINING PROTEIN 3; NT5DC3 TU12B1TY;; GRP94-NEIGHBORING NUCLEOTIDASE; GNN Asterisk 611077 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 4; CHCHD4 MIA40, S. CEREVISIAE, HOMOLOG OF; MIA40 Asterisk 611078 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 1; CBWD1 COBW DOMAIN-CONTAINING PROTEIN 1 Asterisk 611079 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 2; CBWD2 COBW DOMAIN-CONTAINING PROTEIN 2 Asterisk 611080 COBALAMIN SYNTHETASE W DOMAIN-CONTAINING PROTEIN 3; CBWD3 COBW DOMAIN-CONTAINING PROTEIN 3 Number Sign 611081 INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 10; IBD10 Asterisk 611082 MIAT GENE; MIAT C22ORF35 Asterisk 611083 ALCOHOL DEHYDROGENASE, IRON-CONTAINING, 1; ADHFE1 HYDROXYACID-OXOACID TRANSHYDROGENASE; HOT;; ALCOHOL DEHYDROGENASE 8; ADH8 Asterisk 611084 FORKHEAD BOX D4-LIKE 1; FOXD4L1 FOXD4-LIKE 1 Asterisk 611085 FORKHEAD BOX D4-LIKE 4; FOXD4L4 FOXD4B;; FORKHEAD BOX D4-LIKE 2; FOXD4L2;; FOXD4-LIKE 2 Asterisk 611086 FORKHEAD BOX D4-LIKE 3; FOXD4L3 FOXD4-LIKE 3 Number Sign 611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE PMSE SYNDROME Asterisk 611088 COILED-COIL DOMAIN-CONTAINING PROTEIN 65; CCDC65 NYD-SP28 Asterisk 611089 MYOTUBULARIN-RELATED PROTEIN 14; MTMR14 CHROMOSOME 3 OPEN READING FRAME 29; C3ORF29;; EGG-DERIVED TYROSINE PHOSPHATASE, DROSOPHILA, HOMOLOG OF;; HJUMPY Number Sign 611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12 Number Sign 611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5 Number Sign 611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6 Number Sign 611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22; MRT22 Caret 611094 MOVED TO 614300 Percent 611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26; MRT26 Percent 611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10; MRT10 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 20; MRT20 Percent 611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11; MRT11 Asterisk 611098 SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE 4; STEAP4 SIX-TRANSMEMBRANE PROTEIN OF PROSTATE 2; STAMP2;; TUMOR NECROSIS-ALPHA-INDUCED ADIPOSE-RELATED PROTEIN; TIARP Asterisk 611099 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 6; PDIA6 P5;; ENDOPLASMIC RETICULUM PROTEIN 5; ERP5 Percent 611100 PROSTATE CANCER, HEREDITARY, 10; HPC10 Asterisk 611101 PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G5; PLEKHG5 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 5;; KIAA0720 Number Sign 611102 DEAFNESS-INFERTILITY SYNDROME; DIS DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY;; CHROMOSOME 15q15.3 DELETION SYNDROME Asterisk 611103 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9; ACAD9 Asterisk 611104 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 4; FGD4 FGD1-RELATED F-ACTIN-BINDING PROTEIN; FRABIN Number Sign 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY Asterisk 611106 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12D; ZC3H12D p34;; C6ORF95;; MCPIP4 Percent 611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4; MRT4 Asterisk 611108 VON WILLEBRAND FACTOR C DOMAIN-CONTAINING PROTEIN 2; VWC2 BRAIN-SPECIFIC CHORDIN-LIKE PROTEIN; BRORIN Percent 611109 CINNAMON ODOR, PLEASANTNESS OF CINN Asterisk 611110 MAP3K7 C-TERMINAL-LIKE PROTEIN; MAP3K7CL TAK1-LIKE; TAK1L;; CHROMOSOME 21 OPEN READING FRAME 7; C21ORF7 Asterisk 611111 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 5; DPPA5 EMBRYONAL STEM CELL-SPECIFIC GENE 1; ESG1 Asterisk 611112 DAPPER, ANTAGONIST OF BETA-CATENIN, 3; DACT3 DAPPER, XENOPUS, HOMOLOG OF, 3 Asterisk 611113 CEMENTUM PROTEIN 1; CEMP1 CEMENTUM PROTEIN 23; CP23 Asterisk 611114 MICRO RNA 150; MIR150 miRNA150;; MIRN150 Asterisk 611115 VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; VWCE VWC1;; URG11 Asterisk 611116 MICRO RNA 208A; MIR208A miRNA208A;; MIRN208A;; MIR208;; miRNA208;; MIRN208 Asterisk 611117 PROTEIN PHOSPHATASE METHYLESTERASE 1; PPME1 PME1 Asterisk 611118 NUCLEAR PRELAMIN A RECOGNITION FACTOR-LIKE; NARFL IRON-ONLY HYDROGENASE-LIKE PROTEIN 1; IOP1 Asterisk 611119 KELCH-LIKE 7; KLHL7 Asterisk 611120 SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 3; SPTLC3 SPTLC2L;; LCB2B Asterisk 611121 CALMIN; CLMN CALPONIN-LINE TRANSMEMBRANE DOMAIN PROTEIN;; KIAA1188 Asterisk 611122 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 28; ANKRD28 PHOSPHATASE INTERACTOR TARGETING K PROTEIN; PITK;; KIAA0379 Asterisk 611123 EPHRIN RECEPTOR EphA10; EPHA10 Asterisk 611124 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 8; MFSD8 MGC33302 Asterisk 611125 DERMATAN SULFATE EPIMERASE-LIKE; DSEL CHROMOSOME 18 OPEN READING FRAME 4; C18ORF4;; NCAG1 Number Sign 611126 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY;; ACYL-CoA DEHYDROGENASE 9 DEFICIENCY;; ACAD9 DEFICIENCY Asterisk 611127 UBIQUITIN-LIKE 4B; UBL4B Asterisk 611128 MAM DOMAIN-CONTAINING GLYCOSYLPHOSPHATIDYLINOSITOL ANCHOR 2; MDGA2 MAM DOMAIN-CONTAINING PROTEIN 1; MAMDC1 Asterisk 611129 WW DOMAIN-BINDING PROTEIN 1-LIKE; WBP1L CHROMOSOME 10 OPEN READING FRAME 26; C10ORF26;; OPAL1 Asterisk 611130 CHMP FAMILY, MEMBER 7; CHMP7 CHARGED MULTIVESICULAR BODY PROTEIN 7;; CHROMATIN-MODIFYING PROTEIN 7 Number Sign 611131 RETINITIS PIGMENTOSA 37; RP37 Asterisk 611132 RIBOKINASE; RBKS Asterisk 611133 SMALL NUCLEOLAR RNA, C/D BOX, 82; SNORD82 RNA, U82 SMALL NUCLEOLAR; RNU82;; snoRNA, U82 Number Sign 611134 MECKEL SYNDROME, TYPE 4; MKS4 MECKEL-GRUBER SYNDROME, TYPE 4 MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED Asterisk 611135 KLOTHO, BETA; KLB BETA-KLOTHO; BKL Number Sign 611136 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5, INCLUDED; EJM5, INCLUDED;; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4, INCLUDED; ECA4, INCLUDED Asterisk 611137 PROTEASOME SUBUNIT, BETA-TYPE, 11; PSMB11 PROTEASOME SUBUNIT, BETA-5 FAMILY, THYMUS-SPECIFIC;; PROTEASOME SUBUNIT BETA-5T Asterisk 611138 SPERMATID PERINUCLEAR RNA-BINDING PROTEIN; STRBP SPNR;; p74, RAT, HOMOLOG OF Percent 611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8 Asterisk 611140 TELOMERE MAINTENANCE 2, S. CEREVISIAE, HOMOLOG OF; TELO2 TEL2, S. CEREVISIAE, HOMOLOG OF; TEL2;; CLK2, C. ELEGANS, HOMOLOG OF; CLK2;; KIAA0683;; HCLK2 Asterisk 611141 MINDBOMB, DROSOPHILA, HOMOLOG OF, 2; MIB2 SKELETROPHIN Asterisk 611142 CYTOSKELETON-ASSOCIATED PROTEIN 5; CKAP5 COLONIC AND HEPATIC TUMOR OVEREXPRESSED GENE; CHTOG;; MINI SPINDLES, DROSOPHILA, HOMOLOG OF; MSPS;; KIAA0097 Asterisk 611143 FAMILY WITH SEQUENCE SIMILARITY 175, MEMBER A; FAM175A COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98;; ABRAXAS; ABRA1 Asterisk 611144 FAMILY WITH SEQUENCE SIMILARITY 175, MEMBER B; FAM175B ABRAXAS BROTHER 1; ABRO1;; KIAA0157 Asterisk 611145 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 8; SLC30A8 ZINC TRANSPORTER 8; ZNT8 Asterisk 611146 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 10; SLC30A10 ZINC TRANSPORTER 10; ZNT10 Percent 611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2 DYSTONIA 20; DYT20 Asterisk 611148 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 6; SLC30A6 ZINC TRANSPORTER 6; ZNT6 Asterisk 611149 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 7; SLC30A7 ZINC TRANSPORTER 7; ZNT7 Asterisk 611150 ATAXIN 10; ATXN10 E46-LIKE; E46L Asterisk 611151 tRNA METHYLTRANSFERASE 2, S. CEREVISIAE, HOMOLOG OF, A; TRMT2A HPAII TINY FRAGMENTS LOCUS 9C; HTF9C Percent 611152 ALZHEIMER DISEASE 13; AD13 Asterisk 611153 XPA GENE; XPA XPA COMPLEMENTING GENE; XPAC Percent 611154 ALZHEIMER DISEASE 14; AD14 Percent 611155 ALZHEIMER DISEASE 15; AD15 Asterisk 611156 ENDOPLASMIC RETICULUM METALLOPEPTIDASE 1; ERMP1 FXNA, RAT, HOMOLOG OF;; KIAA1815 Asterisk 611157 MRG/MORF4L-BINDING PROTEIN; MRGBP CHROMOSOME 20 OPEN READING FRAME 20; C20ORF20 Asterisk 611158 KERATIN 77, TYPE II; KRT77 K77;; KB39;; KERATIN 1B; K1B Asterisk 611159 KERATIN 78, TYPE II; KRT78 K78;; KB40;; KERATIN 5B; K5B Asterisk 611160 KERATIN 79, TYPE II; KRT79 K79;; KB38;; KERATIN 6-LIKE; K6L; KRT6L Asterisk 611161 KERATIN 80, TYPE II; KRT80 K80;; KERATIN B20; KB20 Number Sign 611162 MALARIA, SUSCEPTIBILITY TO MALARIA, RESISTANCE TO, INCLUDED;; MALARIA, SEVERE, SUSCEPTIBILITY TO, INCLUDED;; MALARIA, SEVERE, RESISTANCE TO, INCLUDED;; MALARIA, CEREBRAL, SUSCEPTIBILITY TO, INCLUDED;; MALARIA, CEREBRAL, RESISTANCE TO, INCLUDED Asterisk 611163 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 2; TOX2 GRANULOSA CELL HMG-BOX PROTEIN 1; GCX1;; CHROMOSOME 20 OPEN READING FRAME 100; C20ORF100 Asterisk 611164 ARGININE-FIFTY HOMEOBOX; ARGFX Asterisk 611165 DIVERGENT-PAIRED RELATED HOMEOBOX; DPRX Asterisk 611166 TETRAPEPTIDE REPEAT HOMEOBOX 1; TPRX1 Asterisk 611167 TETRAPEPTIDE REPEAT HOMEOBOX-LIKE; TPRXL Asterisk 611168 DOUBLE HOMEOBOX A; DUXA Asterisk 611169 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT BETA; CATSPERB CATSPER-BETA;; CHROMOSOME 14 OPEN READING FRAME 161; C14ORF161 Asterisk 611170 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 9-LIKE; SAMD9L Asterisk 611171 SHOOTIN1; SHTN1 KIAA1598 Asterisk 611172 MICRO RNA 34A; MIR34A miRNA34A;; MIRN34A Asterisk 611173 MICRO RNA 375; MIR375 miRNA375;; MIRN375 Number Sign 611174 HAMAMY SYNDROME; HMMS HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY Asterisk 611175 OBG-LIKE ATPase 1; OLA1 GTP-BINDING PROTEIN 9; GTPBP9 Asterisk 611176 JNK/MAPK8-ASSOCIATED MEMBRANE PROTEIN; JKAMP JNK1-ASSOCIATED MEMBRANE PROTEIN; JAMP;; CHROMOSOME 14 OPEN READING FRAME 100; C14ORF100 Asterisk 611177 INTRAFLAGELLAR TRANSPORT 80, CHLAMYDOMONAS, HOMOLOG OF; IFT80 KIAA1374;; WD REPEAT-CONTAINING PROTEIN 56; WDR56 Asterisk 611178 GALANIN-LIKE PEPTIDE; GALP GALANIN-LIKE PEPTIDE PRECURSOR PROTEIN, INCLUDED;; GALP PRECURSOR PROTEIN, INCLUDED;; ALARIN, INCLUDED Asterisk 611179 SHROOM FAMILY MEMBER 1; SHROOM1 APXL2;; KIAA1960 Asterisk 611180 COFACTOR OF BRCA1; COBRA1 NEGATIVE ELONGATION FACTOR POLYPEPTIDE B; NELFB;; KIAA1182 Asterisk 611181 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 10; ACAD10 Number Sign 611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H CDG IIh; CDGIIh Asterisk 611183 BRICK1, SCAR/WAVE ACTIN-NUCLEATING COMPLEX SUBUNIT; BRK1 BRICK1;; CHROMOSOME 3 OPEN READING FRAME 10; C3ORF10;; HSPC300 Asterisk 611184 PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT 1; PIEZO1 FAMILY WITH SEQUENCE SIMILARITY 38, MEMBER A; FAM38A;; MEMBRANE PROTEIN INDUCED BY BETA-AMYLOID TREATMENT; MIB Percent 611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6; RLS6 PERIODIC LIMB MOVEMENTS IN SLEEP Asterisk 611186 MICRO RNA 9-1; MIR9-1 MIRN9-1;; miRNA9-1 Asterisk 611187 MICRO RNA 9-2; MIR9-2 MIRN9-2;; miRNA9-2 Asterisk 611188 MICRO RNA 9-3; MIR9-3 MIRN9-3;; miRNA9-3 Asterisk 611189 MICRO RNA 197; MIR197 miRNA197;; MIRN197 Asterisk 611190 MICRO RNA 346; MIR346 miRNA346;; MIRN346 Asterisk 611191 MICRO RNA 125A; MIR125A MIRN125A;; miRNA125A Asterisk 611192 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11 ANKYRIN REPEAT-CONTAINING COFACTOR 1; ANCO1;; NASOPHARYNGEAL CARCINOMA SUSCEPTIBILITY PROTEIN;; T13;; LZ16 Asterisk 611193 RIBOSOMAL RNA-PROCESSING 15, S. CEREVISIAE, HOMOLOG OF; RRP15 Asterisk 611194 RUN AND FYVE DOMAINS-CONTAINING PROTEIN 3; RUFY3 SINGLE AXON-RELATED 1; SINGAR1;; RAP2-INTERACTING PROTEIN X; RIPX Asterisk 611195 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 1; JAKMIP1 JAMIP1;; MULTIPLE ALPHA HELICES AND RNA-LINKER PROTEIN; MARLIN1 Asterisk 611196 ZINC FINGER MIZ-DOMAIN CONTAINING 2; ZMIZ2 KIAA1886;; ZIMP7 Asterisk 611197 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 2; JAKMIP2 JAMIP2;; NEUROENDOCRINE LONG COILED-COIL PROTEIN 1; NECC1;; KIAA0555 Asterisk 611198 JANUS KINASE AND MICROTUBULE-INTERACTING PROTEIN 3; JAKMIP3 NEUROENDOCRINE LONG COILED-COIL PROTEIN 2; NECC2;; CHROMOSOME 10 OPEN READING FRAME 39; C10ORF39;; JAMIP3 Asterisk 611199 DNTT-INTERACTING PROTEIN 2; DNTTIP2 ESTROGEN RECEPTOR-BINDING PROTEIN; ERBP;; FCF2, S. CEREVISIAE, HOMOLOG OF; FCF2 Asterisk 611200 TUDOR DOMAIN-CONTAINING PROTEIN 6; TDRD6 Asterisk 611201 KELCH-LIKE 9; KLHL9 KIAA1354 Asterisk 611202 N-ACYLSPHINGOSINE AMIDOHYDROLASE 2; ASAH2 CERAMIDASE, NONLYSOSOMAL;; NONLYSOSOMAL CERAMIDASE Asterisk 611203 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5; DNAJC5 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, ALPHA; DNAJC5A;; CYSTEINE STRING PROTEIN; CSP;; CSP-ALPHA Asterisk 611204 COILED-COIL DOMAIN-CONTAINING PROTEIN 88C; CCDC88C HOOK-RELATED PROTEIN 2; HKRP2;; DAPLE;; KIAA1509 Asterisk 611205 COILED-COIL DOMAIN-CONTAINING PROTEIN 88B; CCDC88B HOOK-RELATED PROTEIN 3; HKRP3;; GPR78-INTERACTING PROTEIN INDUCED BY ENDOPLASMIC RETICULUM STRESS; GIPIE Asterisk 611206 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 9; DNAJC9 J DOMAIN OF DNAJ-LIKE PROTEIN 1; JDD1;; KIAA0974 Asterisk 611207 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 1; DNAJC1 HTJ1 Asterisk 611208 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN L-LIKE; HNRNPLL HNRPLL;; STROMAL RNA-REGULATING FACTOR; SRRF Number Sign 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G CDG IIg; CDGIIg;; CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME Asterisk 611210 PDZ-BINDING KINASE; PBK LYMPHOKINE-ACTIVATED KILLER T CELL-ORIGINATED PROTEIN KINASE; TOPK Asterisk 611211 RECEPTOR EXPRESSED IN LYMPHOID TISSUES; RELT TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 19-LIKE; TNFRSF19L Asterisk 611212 RELT-LIKE 1; RELL1 Asterisk 611213 RELT-LIKE 2; RELL2 Asterisk 611214 TSR1, 20S rRNA ACCUMULATION, S. CEREVISIAE, HOMOLOG OF; TSR1 KIAA1401 Asterisk 611215 PRADER-WILLI REGION NONCODING RNA 1; PWRN1 Asterisk 611216 UBX DOMAIN PROTEIN 4; UBXN4 UBX DOMAIN-CONTAINING PROTEIN 2; UBXD2;; KIAA2042;; ERASIN Asterisk 611217 PRADER-WILLI REGION NONCODING RNA 2; PWRN2 Asterisk 611218 GASDERMIN A; GSDMA GASDERMIN 1; GSDM1;; GSDM Asterisk 611219 UNC45, C. ELEGANS, HOMOLOG OF, A; UNC45A SMOOTH MUSCLE CELL-ASSOCIATED PROTEIN 1; SMAP1;; GCUNC45 Asterisk 611220 UNC45, C. ELEGANS, HOMOLOG OF, B; UNC45B SMUNC45 Asterisk 611221 GASDERMIN B; GSDMB GASDERMIN-LIKE; GSDML Percent 611222 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10 MICROPHTHALMIA AND BRAIN ATROPHY; MOBA Asterisk 611223 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 3; AKT3 PROTEIN KINASE B, GAMMA; PKBG;; PKB-GAMMA MAGI3/AKT3 FUSION GENE, INCLUDED Asterisk 611224 SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; SUCLG1 SUCCINATE-CoA LIGASE, GDP-FORMING, ALPHA SUBUNIT;; SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1;; G-ALPHA Number Sign 611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES; IDMDC Asterisk 611226 ARMADILLO REPEAT-CONTAINING PROTEIN 3; ARMC3 KU-CT-1 Asterisk 611227 HYDROGEN VOLTAGE-GATED CHANNEL 1; HVCN1 HV1;; VOLTAGE SENSOR DOMAIN-ONLY PROTEIN; VSOP Number Sign 611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J Asterisk 611229 ENDOPLASMIC RETICULUM LECTIN 1; ERLEC1 ERLECTIN;; CHROMOSOME 2 OPEN READING FRAME 30; C2ORF30 Asterisk 611230 NON-SMC CONDENSIN II COMPLEX SUBUNIT H2; NCAPH2 CONDENSIN II COMPLEX, NON-SMC SUBUNIT H2;; CHROMOSOME-ASSOCIATED PROTEIN H2; CAPH2;; KLEISIN, BETA Asterisk 611231 CLAUDIN 8; CLDN8 Asterisk 611232 CLAUDIN 12; CLDN12 Asterisk 611233 ARGININE-RICH PROTEIN MUTATED IN EARLY STAGE TUMORS-LIKE 1; ARMETL1 CONSERVED DOPAMINE NEUROTROPHIC FACTOR; CDNF Asterisk 611234 FAMILY WITH SEQUENCE SIMILARITY 84, MEMBER A; FAM84A NEUROLOGIC/SENSORY 1; NSE1 Asterisk 611235 TRANSMEMBRANE PROTEIN 38A; TMEM38A TRIMERIC INTRACELLULAR CATION CHANNEL TYPE A; TRICA;; MITSUGUMIN 33 Asterisk 611236 TRANSMEMBRANE PROTEIN 38B; TMEM38B TRIMERIC INTRACELLULAR CATION CHANNEL TYPE B; TRICB Asterisk 611237 BTB/POZ DOMAIN-CONTAINING PROTEIN 9; BTBD9 KIAA1880 Asterisk 611238 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 7; CHCHD7 CHCHD7/PLAG1 FUSION GENE, INCLUDED Asterisk 611239 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 1; GPRIN1 GRIN1;; KIAA1893 Asterisk 611240 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 2; GPRIN2 GRIN2;; KIAA0514 Asterisk 611241 G PROTEIN-REGULATED INDUCER OF NEURITE OUTGROWTH 3; GPRIN3 GRIN3 Percent 611242 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5; RLS5 Asterisk 611243 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; TYW1 tRNA-YW-SYNTHESIZING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF Asterisk 611244 tRNA METHYLTRANSFERASE 12, S. CEREVISIAE, HOMOLOG OF; TRMT12 TRM12;; tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 2, S. CEREVISIAE, HOMOLOG OF; TYW2;; tRNA-YW-SYNTHESIZING PROTEIN 2, S. CEREVISIAE, HOMOLOG OF Asterisk 611245 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 3, S. CEREVISIAE, HOMOLOG OF; TYW3 tRNA-YW-SYNTHESIZING PROTEIN 3, S. CEREVISIAE, HOMOLOG OF Asterisk 611246 LEUCINE CARBOXYL METHYLTRANSFERASE 2; LCMT2 tRNA-WYBUTOSINE-SYNTHESIZING PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; TYW4;; tRNA-YW-SYNTHESIZING PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;; KIAA0547 Percent 611247 MAJOR AFFECTIVE DISORDER 4; MAFD4 BIPOLAR AFFECTIVE DISORDER; BPAD Asterisk 611248 KELCH DOMAIN-CONTAINING PROTEIN 3; KLHDC3 PEAS Asterisk 611249 MICRO RNA LET7B; MIRLET7B LET7, C. ELEGANS, HOMOLOG OF, B; LET7B;; miRNA LET7B;; MIRNLET7B Asterisk 611250 MICRO RNA LET7E; MIRLET7E LET7, C. ELEGANS, HOMOLOG OF, E; LET7E;; miRNA LET7E;; MIRNLET7E Asterisk 611251 PATCHED DOMAIN-CONTAINING PROTEIN 2; PTCHD2 DISPATCHED, DROSOPHILA, HOMOLOG OF, 3; DISP3;; KIAA1337 Percent 611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32 Asterisk 611253 KINESIN FAMILY MEMBER 27; KIF27 Asterisk 611254 KINESIN FAMILY MEMBER 7; KIF7 Asterisk 611255 NADPH OXIDASE ACTIVATOR 1; NOXA1 NOX ACTIVATOR 1;; p51-NOX Asterisk 611256 NADPH OXIDASE ORGANIZER 1; NOXO1 p41-NOX Asterisk 611257 TRANSMEMBRANE PROTEIN 132D; TMEM132D KIAA1944;; MATURE OLIGODENDROCYTE TRANSMEMBRANE PROTEIN; MOLT Asterisk 611258 TUDOR DOMAIN-CONTAINING PROTEIN 7; TDRD7 KIAA1529;; PCTAIRE2-BINDING PROTEIN;; TUDOR REPEAT ASSOCIATOR WITH PCTAIRE2; TRAP Asterisk 611259 CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1 Asterisk 611260 THREONINE SYNTHASE-LIKE 1; THNSL1 TSH1 Asterisk 611261 THREONINE SYNTHASE-LIKE 2; THNSL2 THS2 Asterisk 611262 DEOXYHYPUSINE HYDROXYLASE; DOHH DEOXYHYPUSINE MONOOXYGENASE;; DEOXYHYPUSINE DIOXYGENASE;; HEAT-LIKE REPEAT-CONTAINING PROTEIN 1; HLRC1 Number Sign 611263 SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 Asterisk 611264 CENTROMERIC PROTEIN W; CENPW CHROMOSOME 6 OPEN READING FRAME 173; C6ORF173;; CANCER-UPREGULATED GENE 2; CUG2 Asterisk 611265 PEROXISOMAL PROLIFERATOR-ACTIVATED RECEPTOR ALPHA-INTERACTING COFACTOR COMPLEX, 285-KD SUBUNIT KIAA1769;; PRIC COMPLEX, 285-KD SUBUNIT; PRIC285;; PPAR-GAMMA DNA-BINDING DOMAIN-INTERACTING PROTEIN 1; PDIP1;; PDIP1-ALPHA;; PDIP1-BETA Asterisk 611266 POTE ANKYRIN DOMAIN FAMILY, MEMBER K, PSEUDOGENE; POTEKP ACTIN, KAPPA ACTIN-LIKE PROTEIN;; FKSG30 Asterisk 611267 OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 1; OR51E1 DGPCR;; PROSTATE-SPECIFIC G PROTEIN-COUPLED RECEPTOR 2; PSGR2 Asterisk 611268 OLFACTORY RECEPTOR, FAMILY 51, SUBFAMILY E, MEMBER 2; OR51E2 PROSTATE-SPECIFIC G PROTEIN-COUPLED RECEPTOR; PSGR Asterisk 611269 NUCLEOLAR PROTEIN WITH MIF4G DOMAIN 1; NOM1 CHROMOSOME 7 OPEN READING FRAME 3; C7ORF3 Asterisk 611270 N-ETHYLMALEIMIDE-SENSITIVE FACTOR ATTACHMENT PROTEIN, BETA; NAPB SOLUBLE NSF-ATTACHMENT PROTEIN, BETA; SNAPB;; SNAP, BETA Asterisk 611271 KINESIN FAMILY MEMBER 18A; KIF18A MARROW STROMAL KIF18A; MS-KIF18A Asterisk 611272 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 5; ZKSCAN5 ZINC FINGER PROTEIN 95; ZFP95;; KIAA1015 Asterisk 611273 LBX1 COREPRESSOR 1, MOUSE, HOMOLOG OF; LBXCOR1 CORL1 Percent 611274 GLAUCOMA 1, OPEN ANGLE, N; GLC1N Asterisk 611275 BCL2/ADENOVIRUS E1B 19-KD PROTEIN-INTERACTING PROTEIN 2-LIKE; BNIPL BNIP2-SIMILAR; BNIPS;; BNIPL1;; BNIPL2 Percent 611276 GLAUCOMA 1, OPEN ANGLE, H; GLC1H Caret 611277 MOVED TO 607681 Asterisk 611278 KINESIN FAMILY MEMBER 12; KIF12 Asterisk 611279 KINESIN FAMILY MEMBER 14; KIF14 KIAA0042 Asterisk 611280 KELCH DOMAIN-CONTAINING PROTEIN 2; KLHDC2 HOST CELL FACTOR-LIKE PROTEIN 1; HCLP1 Asterisk 611281 KELCH DOMAIN-CONTAINING PROTEIN 1; KLHDC1 Asterisk 611282 DYNAMIN-BINDING PROTEIN; DNMBP TUBA;; KIAA1010 Number Sign 611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY; IBDD IBD DEFICIENCY;; ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8, DEFICIENCY OF;; ACAD8 DEFICIENCY Percent 611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD MUSICIAN'S DYSTONIA, INCLUDED Asterisk 611285 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 5; KCTD5 Asterisk 611286 RNA TERMINAL PHOSPHATE CYCLASE DOMAIN-CONTAINING PROTEIN 1; RTCD1 RTC DOMAIN-CONTAINING PROTEIN 1;; RNA 3-PRIME-TERMINAL PHOSPHATE CYCLASE: RPC Asterisk 611287 CORNICHON, DROSOPHILA, HOMOLOG OF, 1; CNIH1 CNIH;; T-CELL GROWTH-ASSOCIATED MOLECULE 77; TGAM77 Asterisk 611288 CORNICHON, DROSOPHILA, HOMOLOG OF, 2; CNIH2 CNI-LIKE; CNIL Asterisk 611289 LEUCINE-RICH ALPHA-2-GLYCOPROTEIN 1; LRG1 LRG Asterisk 611290 NONHOMOLOGOUS END-JOINING FACTOR 1; NHEJ1 XRCC4-LIKE FACTOR; XLF;; CERNUNNOS;; NEJ1, S. CEREVISIAE, HOMOLOG OF Number Sign 611291 SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION;; NHEJ1 SYNDROME SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED;; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED Asterisk 611292 CLAVESIN 1; CLVS1 CLATHRIN VESICLE-ASSOCIATED SEC14 PROTEIN 1;; RETINALDEHYDE-BINDING PROTEIN 1-LIKE 1; RLBP1L1;; CELLULAR RETINALDEHYDE-BINDING PROTEIN-LIKE; CRALBPL Asterisk 611293 COILED-COIL DOMAIN-CONTAINING PROTEIN 86; CCDC86 CYTOKINE-INDUCED PROTEIN WITH COILED-COIL DOMAIN; CYCLON Asterisk 611294 ONE CUT HOMEOBOX 3; ONECUT3 ONE CUT DOMAIN, FAMILY MEMBER 3; OC3 Asterisk 611295 KELCH-LIKE 24; KLHL24 KAINATE RECEPTOR-INTERACTING PROTEIN FOR GLUR6; KRIP6 Asterisk 611296 ANNEXIN A2 RECEPTOR; ANXA2R CHROMOSOME 5 OPEN READING FRAME 39; C5ORF39;; ANNEXIN II RECEPTOR;; AXIIR Asterisk 611297 ODD-SKIPPED-RELATED 2; OSR2 Asterisk 611298 KIAA1324 ESTROGEN-INDUCED GENE 121; EIG121 Asterisk 611299 G2/M PHASE-SPECIFIC E3 UBIQUITIN LIGASE; G2E3 KIAA1333 Asterisk 611300 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 6; LARP6 ACHERON; ACHN Asterisk 611301 CHROMOSOME 17 OPEN READING FRAME 70; C17ORF70 FANCONI ANEMIA-ASSOCIATED PROTEIN, 100-KD SUBUNIT; FAAP100 Number Sign 611302 SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2 Asterisk 611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A KIAA0350 Asterisk 611304 TRANSMEMBRANE PROTEIN 159; TMEM159 PROMETHIN Asterisk 611305 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 3; ABLIM3 KIAA0843 Asterisk 611306 SCAVENGER RECEPTOR CLASS A, MEMBER 5; SCARA5 Number Sign 611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L Percent 611308 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT; PHPVAD Asterisk 611309 CHROMOSOME 10 OPEN READING FRAME 10; C10ORF10 DECIDUAL PROTEIN INDUCED BY PROGESTERONE; DEPP;; FASTING-INDUCED GENE; FIG Asterisk 611310 PHOSPHOSERYL-tRNA KINASE; PSTK CHROMOSOME 10 OPEN READING FRAME; C10ORF89 Caret 611311 MOVED TO 221900 Asterisk 611312 CORNULIN; CRNN CHROMOSOME 1 OPEN READING FRAME 10; C1ORF10;; PDRC1 Asterisk 611313 ARMS2 GENE; ARMS2 LOC387715 Asterisk 611314 HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 2 PSEUDOGENE 46; HMGN2P46 HMGN2 PSEUDOGENE 46;; CHROMOSOME 15 OPEN READING FRAME 21; C15ORF21;; DPCA2 Asterisk 611315 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 20; ZSCAN20 ZINC FINGER PROTEIN 31; ZNF31;; KOX29 Asterisk 611316 SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 8; SLC12A8 Asterisk 611317 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 5; PIK3R5 p101 Asterisk 611318 MEDIATOR COMPLEX SUBUNIT 12-LIKE; MED12L NO OPPOSITE-PAIRED REPEAT; NOPAR;; KIAA1635 Asterisk 611319 INTERFERON-ALPHA-INDUCIBLE PROTEIN 27-LIKE 2; IFI27L2 INTERFERON-STIMULATED GENE 12B; ISG12B;; FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER A; FAM14A Asterisk 611320 FAMILY WITH SEQUENCE SIMILARITY 14, MEMBER B; FAM14B INTERFERON-STIMULATED GENE 12C; ISG12C Asterisk 611321 CALSYNTENIN 1; CLSTN1 ALCADEIN, ALPHA;; ALC-ALPHA;; KIAA0911 Asterisk 611322 DNAJ/HSP40 HOMOLOG, SUBFAMILY A, MEMBER 2; DNAJA2 DJ3;; CELL CYCLE PROGRESSION RESTORATION 3; CPR3 Asterisk 611323 CALSYNTENIN 2; CLSTN2 ALCADEIN, GAMMA;; ALC-GAMMA Asterisk 611324 CALSYNTENIN 3; CLSTN3 ALCADEIN, BETA;; ALC-BETA;; KIAA0726 Asterisk 611325 TRANSFORMING GROWTH FACTOR-BETA REGULATOR 4; TBRG4 FAST KINASE DOMAIN-CONTAINING PROTEIN 4; FASTKD4;; KIAA0948;; CELL CYCLE PROGRESSION RESTORATION 2; CPR2 Asterisk 611326 CELL CYCLE PROGRESSION 1; CCPG1 KIAA1254;; CELL CYCLE PROGRESSION RESTORATION 8; CPR8 Asterisk 611327 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 4; DNAJB4 HUMAN LIVER DNAJ-LIKE; HLJ1 Asterisk 611328 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 5; DNAJB5 KIAA1045;; HEAT SHOCK COGNATE 40; HSC40 Asterisk 611329 SMALL CAJAL BODY-SPECIFIC RNA 18; SCARNA18 snoRNA, U109 Asterisk 611330 SMALL NUCLEOLAR RNA, H/ACA BOX, 12; SNORA12 snoRNA, U108 Asterisk 611331 SMALL NUCLEOLAR RNA, H/ACA BOX, 74B; SNORA74B snoRNA, U19-2 Asterisk 611332 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 6; DNAJB6 MRJ;; DJ4 Asterisk 611333 SMALL NUCLEOLAR RNA, H/ACA BOX, 3B; SNORA3B SMALL NUCLEOLAR RNA, H/ACA BOX, 45; SNORA45;; snoRNA, ACA3-2 Asterisk 611334 SMALL NUCLEOLAR RNA, H/ACA BOX, 81; SNORA81 snoRNA, HBI-61 Asterisk 611335 SMALL NUCLEOLAR RNA, H/ACA BOX, 5C; SNORA5C snoRNA, HBI-80 Asterisk 611336 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 7; DNAJB7 DJ5;; HSC3 Asterisk 611337 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 8; DNAJB8 DJ6 Asterisk 611338 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, B; ATG4B APG4, S. CEREVISIAE, HOMOLOG OF, B; APG4B;; AUTOPHAGIN 1;; AUTL1;; KIAA0943 Asterisk 611339 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, C; ATG4C APG4, S. CEREVISIAE, HOMOLOG OF, C; APG4C;; AUTOPHAGIN 3;; AUTL3 Asterisk 611340 AUTOPHAGY 4, S. CEREVISIAE, HOMOLOG OF, D; ATG4D APG4, S. CEREVISIAE, HOMOLOG OF, D; APG4D;; AUTOPHAGIN 4;; AUTL4 Asterisk 611341 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 11; DNAJB11 HUMAN ENDOPLASMIC RETICULUM-ASSOCIATED DNAJ; HEDJ;; DJ9;; APOBEC1-BINDING PROTEIN 2; ABBP2 Asterisk 611342 CHROMOSOME 9 OPEN READING FRAME 64; C9ORF64 Asterisk 611343 CHROMOSOME 9 OPEN READING FRAME 103; C9ORF103 Asterisk 611344 RAS AND EF-HAND DOMAINS-CONTAINING PROTEIN; RASEF Asterisk 611345 INTEGRATOR COMPLEX SUBUNIT 1; INTS1 INT1;; KIAA1440 Asterisk 611346 INTEGRATOR COMPLEX SUBUNIT 2; INTS2 INT2;; KIAA1287 Asterisk 611347 INTEGRATOR COMPLEX SUBUNIT 3; INTS3 INT3;; SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT A; SOSSA;; SOSS COMPLEX, SUBUNIT A Asterisk 611348 INTEGRATOR COMPLEX SUBUNIT 4; INTS4 INT4 Asterisk 611349 INTEGRATOR COMPLEX SUBUNIT 5; INTS5 INT5;; KIAA1698 Asterisk 611350 INTEGRATOR COMPLEX SUBUNIT 7; INTS7 INT7 Asterisk 611351 INTEGRATOR COMPLEX SUBUNIT 8; INTS8 INT8 Asterisk 611352 INTEGRATOR COMPLEX SUBUNIT 9; INTS9 INT9;; RELATED TO CPSF SUBUNITS, 74-KD PROTEIN; RC74 Asterisk 611353 INTEGRATOR COMPLEX SUBUNIT 10; INTS10 INT10 Asterisk 611354 CLEAVAGE AND POLYADENYLATION-SPECIFIC FACTOR 3-LIKE; CPSF3L INTEGRATOR COMPLEX SUBUNIT 11; INTS11;; RELATED TO CPSF SUBUNITS, 68-KD PROTEIN; RC68 Asterisk 611355 INTEGRATOR COMPLEX SUBUNIT 12; INTS12 INT12 Asterisk 611356 G KINASE-ANCHORING PROTEIN 1; GKAP1 cGMP-DEPENDENT PROTEIN KINASE-ANCHORING PROTEIN, 42-KD; GKAP42 Asterisk 611357 TERMINAL NUCLEOTIDYLTRANSFERASE 5A; TENT5A FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER A; FAM46A;; CHROMOSOME 6 OPEN READING FRAME 37; C6ORF37 Asterisk 611358 RING FINGER PROTEIN 135; RNF135 RIPLET Asterisk 611359 ACTIVATING MOLECULE IN BECLIN 1-REGULATED AUTOPHAGY; AMBRA1 DDB1- AND CUL4-ASSOCIATED FACTOR 3; DCAF3;; KIAA1736 Asterisk 611360 FANCI GENE; FANCI KIAA1794 Asterisk 611361 UBIQUITIN-ACTIVATING ENZYME E1-LIKE 2; UBE1L2 UBIQUITIN-ACTIVATING ENZYME 6; UBA6 Asterisk 611362 UBIQUITIN-CONJUGATING ENZYME E2Z; UBE2Z UBA6-SPECIFIC E2; USE1 Number Sign 611363 ATRIAL SEPTAL DEFECT 4; ASD4 Percent 611364 MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4 Asterisk 611365 TRANSMEMBRANE PROTEIN 183B; TMEM183B C1ORF37DUP Asterisk 611366 CHROMOSOME 12 OPEN READING FRAME 10; C12ORF10 MELANOCYTE PROLIFERATING GENE 1, MOUSE, HOMOLOG OF; MYG1 Asterisk 611367 ASPARTYL AMINOPEPTIDASE; DNPEP ASPEP; DAP Asterisk 611368 MAELSTROM, DROSOPHILA, HOMOLOG OF; MAEL Number Sign 611369 LETHAL CONGENITAL CONTRACTURE SYNDROME 3; LCCS3 MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE B Asterisk 611370 FGGY CARBOHYDRATE KINASE DOMAIN-CONTAINING PROTEIN; FGGY FLJ10986 Asterisk 611371 ZINC FINGER PROTEIN 653; ZNF653 ZIP67 Asterisk 611372 SMALL ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 1; SMAP1 SMALL ARFGAP 1;; STROMAL MEMBRANE-ASSOCIATED PROTEIN 1 Asterisk 611373 LIVER-EXPRESSED ANTIMICROBIAL PEPTIDE 2; LEAP2 Asterisk 611374 MICRO RNA 34B; MIR34B miRNA34B;; MIRN34B Asterisk 611375 MICRO RNA 34C; MIR34C miRNA34C;; MIRN34C Number Sign 611376 MUNGAN SYNDROME; MGS VISCERAL NEUROMYOPATHY, FAMILIAL, WITH PSEUDOOBSTRUCTION, MEGADUODENUM, BARRETT ESOPHAGUS, AND CARDIAC ABNORMALITIES;; PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, WITH BARRETT ESOPHAGUS AND CARDIAC ABNORMALITIES Number Sign 611377 BRACHYDACTYLY, TYPE B2; BDB2 Number Sign 611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9 Asterisk 611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B KIAA1463 Asterisk 611380 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, C; DIP2C KIAA0934 Percent 611381 KALA-AZAR, SUSCEPTIBILITY TO, 2; KAZA2 LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 2 Percent 611382 KALA-AZAR, SUSCEPTIBILITY TO, 3; KAZA3 LEISHMANIASIS, VISCERAL, SUSCEPTIBILITY TO, 3 Number Sign 611383 USHER SYNDROME, TYPE IID; USH2D Percent 611384 PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1 PFFE1;; MALARIA FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1 Caret 611385 MOVED TO 176846 Asterisk 611386 ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP ADNP1;; KIAA0784 Asterisk 611387 CXC CHEMOKINE LIGAND 17; CXCL17 VEGF COREGULATED CHEMOKINE 1; VCC1;; DENDRITIC CELL AND MONOCYTE CHEMOKINE-LIKE PROTEIN; DMC Asterisk 611388 DEOXYNUCLEOTIDYLTRANSFERASE, TERMINAL, INTERACTING PROTEIN 1; DNTTIP1 TDT-INTERACTING FACTOR; TDIF1;; CHROMOSOME 20 OPEN READING FRAME 167; C20ORF167 Asterisk 611389 PRICKLE, DROSOPHILA, HOMOLOG OF, 4; PRICKLE4 PRICKLE-LIKE 4;; CHROMOSOME 6, OPEN READING FRAME 49; C6ORF49;; OVEREXPRESSED BREAST TUMOR PROTEIN; OEBT; OBTP Number Sign 611390 SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE; SPAX3 AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY; ARSAL Number Sign 611391 CATARACT 33, MULTIPLE TYPES; CTRCT33 Asterisk 611392 2-AMINOETHANETHIOL DIOXYGENASE; ADO CHROMOSOME 10 OPEN READING FRAME 22; C10ORF22;; CYSTEAMINE DIOXYGENASE Asterisk 611393 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER A; FAM110A CHROMOSOME 20 OPEN READING FRAME 55; C20ORF55 Asterisk 611394 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER B; FAM110B CHROMOSOME 8 OPEN READING FRAME 72; C8ORF72 Asterisk 611395 FAMILY WITH SEQUENCE SIMILARITY 110, MEMBER C; FAM110C Asterisk 611396 ADIPOGENIN; ADIG SMALL ADIPOCYTE FACTOR 1; SMAF1 Asterisk 611397 TETRATRICOPEPTIDE REPEAT-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN 1; TANC1 TPR DOMAIN-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN; TANC;; KIAA1728 Asterisk 611398 GROWTH ARREST-SPECIFIC 2-LIKE 2; GAS2L2 GAS2-RELATED PROTEIN;; GAS2-RELATED ON CHROMOSOME 17; GAR17 Asterisk 611399 SODIUM CHANNEL AND CLATHRIN LINKER 1; SCLT1 CLATHRIN-ASSOCIATED PROTEIN 1A; CAP1A Asterisk 611400 HOX TRANSCRIPT ANTISENSE RNA, NONCODING; HOTAIR HOX ANTISENSE INTERGENIC RNA;; LONG INTERGENIC NONCODING RNA HOTAIR;; lincRNA HOTAIR Asterisk 611401 CHROMOSOME 6 OPEN READING FRAME 15; C6ORF15 SIMIAN TASTE BUD-SPECIFIC GENE; STG Asterisk 611402 DOCKING PROTEIN 6; DOK6 Percent 611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 ASRT6 Asterisk 611404 CHROMOSOME 6 OPEN READING FRAME 21; C6ORF21 G6F PROTEIN Asterisk 611405 RNA TERMINAL PHOSPHATE CYCLASE-LIKE 1; RCL1 RPCL1;; RNAC Asterisk 611406 DYNEIN, CYTOPLASMIC 1, LIGHT INTERMEDIATE CHAIN 2; DYNC1LI2 LIC2 Number Sign 611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W Asterisk 611408 LCA5 GENE; LCA5 LEBERCILIN;; CHROMOSOME 6 OPEN READING FRAME 152; C6ORF152 Asterisk 611409 OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2 OCA2 GENE;; PINK-EYED DILUTION; PED;; P GENE Asterisk 611410 FAMILY WITH SEQUENCE SIMILARITY 65, MEMBER B; FAM65B CHROMOSOME 6 OPEN READING FRAME 32; C6ORF32;; KIAA0386;; PL48 Asterisk 611411 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE 1, ALPHA; CAMKK1 CAMKK-ALPHA; CAMKKA Asterisk 611412 N-ACETYLNEURAMINATE PYRUVATE LYASE; NPL CHROMOSOME 1 OPEN READING FRAME 13; C1ORF13;; DIHYDRODIPICOLINATE SYNTHASE;; C112 Asterisk 611413 DISCS LARGE-ASSOCIATED PROTEIN 3; DLGAP3 SAP90/PSD95-ASSOCIATED PROTEIN 3; SAPAP3 Asterisk 611414 CALRETICULIN 3; CALR3 CALRETICULIN 2; CRT2 Asterisk 611415 POLYMERASE (DNA-DIRECTED), DELTA 3, ACCESSORY SUBUNIT; POLD3 KIAA0039;; P66 Asterisk 611416 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3; TOX3 TRINUCLEOTIDE REPEAT-CONTAINING 9; TNRC9;; CAGF9 Asterisk 611417 SMALL G PROTEIN SIGNALING MODULATOR 1; SGSM1 KIAA1941 Asterisk 611418 SMALL G PROTEIN SIGNALING MODULATOR 2; SGSM2 KIAA0397 Asterisk 611419 CHROMOSOME 6 OPEN READING FRAME 1; C6ORF1 LBH Asterisk 611420 CDKN1A-INTERACTING ZINC FINGER PROTEIN 1; CIZ1 CIP1-INTERACTING ZINC FINGER PROTEIN;; ZINC FINGER PROTEIN 356; ZNF356;; LSFR1;; NP94 Asterisk 611421 SNF2-RELATED CBP ACTIVATOR PROTEIN; SRCAP SWR1, S. CEREVISIAE, HOMOLOG OF; SWR1;; KIAA0309 Asterisk 611422 MEIOTIC NUCLEAR DIVISION 1, S. CEREVISIAE, HOMOLOG OF; MND1 Asterisk 611423 CENTROSOMAL PROTEIN, 135-KD; CEP135 KIAA0635 Asterisk 611424 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 19; ZMYND19 MCHR1-INTERACTING ZINC FINGER PROTEIN; MIZIP Asterisk 611425 CENTROSOMAL BRCA2-INTERACTING PROTEIN; CNTROB CENTROBIN;; LYST-INTERACTING PROTEIN LIP8; LIP8 NULL 611426 TENTED EYEBROWS Asterisk 611427 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1-LIKE, NADP(+)-DEPENDENT; MTHFD1L MITOCHONDRIAL C1-TETRAHYDROFOLATE SYNTHASE; MTC1THFS Asterisk 611428 DOWNSTREAM NEIGHBOR OF SON; DONSON CHROMOSOME 21 OPEN READING FRAME 60; C21ORF60;; B17 Asterisk 611429 CHROMOSOME 3 OPEN READING FRAME 35; C3ORF35 AP20 REGION PROTEIN 1; APRG1 Asterisk 611430 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21A; TTC21A STRESS-INDUCIBLE PROTEIN 2; STI2;; INTRAFLAGELLAR TRANSPORT PROTEIN 139A; IFT139A Number Sign 611431 LEGIUS SYNDROME; LGSS NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME; NFLS Asterisk 611432 DEDICATOR OF CYTOKINESIS 8; DOCK8 Asterisk 611433 SERINE/THREONINE/TYROSINE KINASE 1; STYK1 NOVEL ONCOGENE WITH KINASE DOMAIN; NOK Asterisk 611434 CYTOKINE-DEPENDENT HEMATOPOIETIC CELL LINKER; CLNK MAST CELL IMMUNORECEPTOR SIGNAL TRANSDUCER; MIST Asterisk 611435 DOCKING PROTEIN 3; DOK3 DOK-LIKE PROTEIN; DOKL Asterisk 611436 CARBONIC ANHYDRASE XIII; CA13 Asterisk 611437 DUAL-SPECIFICITY PHOSPHATASE 19; DUSP19 SAPK PATHWAY-REGULATING PHOSPHATASE 1; SKRP1;; DUSP17;; LMWDSP3 Asterisk 611438 TAXILIN, BETA; TXLNB Asterisk 611439 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 22; ZBTB22 BING1 Asterisk 611440 WD REPEAT-CONTAINING PROTEIN 46; WDR46 BING4 Asterisk 611441 DOUBLE HOMEOBOX PROTEIN 1; DUX1 Asterisk 611442 DOUBLE HOMEOBOX PROTEIN 2; DUX2 Asterisk 611443 DOUBLE HOMEOBOX PROTEIN 3; DUX3 Asterisk 611444 DOUBLE HOMEOBOX PROTEIN 5; DUX5 Asterisk 611445 DYNAMIN 3; DNM3 KIAA0820 Asterisk 611446 DUAL-SPECIFICITY PHOSPHATASE 18; DUSP18 LMWDSP20 Asterisk 611447 Y BOX-BINDING PROTEIN 2; YBX2 MSY2;; CSDA3;; CONTRIN;; DNA-BINDING PROTEIN C; DBPC Asterisk 611448 BMS1, RIBOSOME ASSEMBLY PROTEIN, S. CEREVISIAE, HOMOLOG OF; BMS1 RIBOSOME BIOGENESIS PROTEIN BMS1;; BMS1-LIKE; BMS1L;; KIAA0187 Asterisk 611449 EXPORTIN 4; XPO4 EXP4;; KIAA1721 Asterisk 611450 PXK DOMAIN-CONTAINING SERINE/THREONINE KINASE; PXK MODULATOR OF Na,K-ATPase; MONAKA Number Sign 611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63 Caret 611452 MOVED TO 278150 Asterisk 611453 DYSBINDIN DOMAIN-CONTAINING 2; DBNDD2 SCF APOPTOSIS RESPONSE PROTEIN 1;; HSMNP1 Caret 611454 MOVED TO 105550 Asterisk 611455 KINOCILIN; KNCN KINO;; L5 Percent 611456 TREMOR, HEREDITARY ESSENTIAL, 3; ETM3 Asterisk 611457 FORKHEAD BOX O6 FOXO6 Asterisk 611458 GALACTOSIDASE, BETA-1; GLB1 BETA-GALACTOSIDASE-1 ELASTIN-BINDING PROTEIN, INCLUDED; EBP, INCLUDED;; S-GAL, INCLUDED;; ELASTIN RECEPTOR 1, INCLUDED Asterisk 611459 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 7; SLC10A7 Asterisk 611460 TUMOR PROTEIN p63-REGULATED PROTEIN 1-LIKE; TPRG1L TPRG1-LIKE;; FAMILY WITH SEQUENCE SIMILARITY 79, MEMBER A; FAM79A;; MOVER Asterisk 611461 SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 17; SLC22A17 NEUTROPHIL GELATINASE-ASSOCIATED LIPOCALCIN RECEPTOR; NGALR;; BRAIN-TYPE ORGANIC ION TRANSPORTER; BOCT; BOIT NGALR2, INCLUDED;; NGALR3, INCLUDED Asterisk 611462 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 6; PIK3R6 CHROMOSOME 17 OPEN READING FRAME 38; C17ORF38;; PHOSPHOINOSITIDE 3-KINASE-GAMMA ADAPTOR PROTEIN, 87-KD;; p87-PIKAP Asterisk 611463 SPERMIDINE/SPERMINE N(1)-ACETYLTRANSFERASE 2; SAT2 SSAT2;; THIALYSINE N-EPSILON-ACETYLTRANSFERASE Asterisk 611464 MON1, S. CEREVISIAE, HOMOLOG OF, A; MON1A SAND1 Number Sign 611465 GALLBLADDER DISEASE 4; GBD4 Asterisk 611466 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY M, MEMBER 1; PLEKHM1 ADAPTOR PROTEIN, 162-KD; AP162;; KIAA0356 Asterisk 611467 GUANYLATE-BINDING PROTEIN 5: GBP5 GUANYLATE-BINDING PROTEIN 5, MOUSE, HOMOLOG OF Asterisk 611468 BDNF ANTISENSE RNA; BDNFAS BRAIN-DERIVED NEUROTROPHIC FACTOR, OPPOSITE STRAND; BDNFOS;; ANTI-BDNF Percent 611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q24 Asterisk 611470 GLUTAMATE-AMMONIA LIGASE (GLUTAMINE SYNTHETASE) DOMAIN-CONTAINING 1; GLULD1 LENGSIN; LGS Asterisk 611471 ACID PHOSPHATASE 6, LYSOPHOSPHATIDE; ACP6 LYSOPHOSPHATIDIC ACID-SPECIFIC PHOSPHATASE; LPAP;; ACID PHOSPHATASE-LIKE 1; ACPL1 Asterisk 611472 METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5 KIAA1461 Asterisk 611473 EMBRYONIC STEM CELL-RELATED PROTEIN HESRG Asterisk 611474 HRAS-LIKE SUPPRESSOR FAMILY, MEMBER 5; HRASLS5 LECITHIN-RETINOL ACYLTRANSFERASE-LIKE PROTEIN 1; RLP1;; H-REV107-LIKE PROTEIN 5; HRLP5 Asterisk 611475 RNA POLYMERASE II-ASSOCIATED PROTEIN 1; RPAP1 KIAA1403 Asterisk 611476 RNA POLYMERASE II-ASSOCIATED PROTEIN 2; RPAP2 CHROMOSOME 1 OPEN READING FRAME 82; C1ORF82 Asterisk 611477 RNA POLYMERASE II-ASSOCIATED PROTEIN 3; RPAP3 Asterisk 611478 METHYLPHOSPHATE CAPPING ENZYME; MEPCE BICOID-INTERACTING 3, DROSOPHILA, HOMOLOG OF; BCDIN3 Asterisk 611479 XPA-BINDING PROTEIN 1; XAB1 MBD2-INTERACTING PROTEIN; MBDIN Asterisk 611480 PIH1 DOMAIN-CONTAINING PROTEIN 1; PIH1D1 NOP17, S. CEREVISIAE, HOMOLOG OF; NOP17 Asterisk 611481 UFM1-SPECIFIC PEPTIDASE 1; UFSP1 UFM1-SPECIFIC PROTEASE 1 Asterisk 611482 UFM1-SPECIFIC PEPTIDASE 2; UFSP2 UFM1-SPECIFIC PROTEASE 2;; CHROMOSOME 4 OPEN READING FRAME 20; C4ORF20 Asterisk 611483 YIP1 DOMAIN FAMILY, MEMBER 5; YIPF5 SMOOTH MUSCLE CELL-ASSOCIATED PROTEIN 5; SMAP5;; YIP1A Asterisk 611484 YIP1-INTERACTING FACTOR, S. CEREVISIAE, HOMOLOG OF, A; YIF1A YIF1 Asterisk 611485 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 12; CYP4F12 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 12 Asterisk 611486 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1; SYCE1 Asterisk 611487 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 2; SYCE2 CENTRAL ELEMENT SYNAPTONEMAL COMPLEX 1; CESC1 Percent 611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10 Number Sign 611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY CBG DEFICIENCY;; TRANSCORTIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED, INCLUDED Number Sign 611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4 OSTEOPETROSIS, INFANTILE MALIGNANT 2 Asterisk 611491 RAS ASSOCIATION AND DILUTE DOMAINS PROTEIN; RADIL RAP GTPase INTERACTOR;; KIAA1849 Asterisk 611492 CARBONIC ANHYDRASE II; CA2 CA II;; CARBONIC ANHYDRASE B;; CARBONIC ANHYDRASE C, FORMERLY Number Sign 611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 Percent 611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5 Asterisk 611495 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 22; CYP4F22 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 22 Asterisk 611496 GATA-BINDING PROTEIN 5; GATA5 Number Sign 611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6 OSTEOPETROSIS, AUTOSOMAL RECESSIVE, INTERMEDIATE FORM Number Sign 611498 NEPHRONOPHTHISIS 7; NPHP7 Asterisk 611499 BETA-GLUCURONIDASE; GUSB Asterisk 611500 MICRO RNA 219-1; MIR219-1 miRNA219-1;; MIRN219-1 Asterisk 611501 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1; CAMTA1 KIAA0833 Asterisk 611502 CENTROMERIC PROTEIN K; CENPK SOLT Asterisk 611503 CENTROMERIC PROTEIN L; CENPL Asterisk 611504 CENTROMERIC PROTEIN O; CENPO Asterisk 611505 CENTROMERIC PROTEIN P; CENPP Asterisk 611506 CENTROMERIC PROTEIN Q; CENPQ Asterisk 611507 CDGSH IRON SULFUR DOMAIN PROTEIN 2; CISD2 MITONEET-RELATED 1; MINER1;; ZINC FINGER PROTEIN ZCD2; ZCD2;; ENDOPLASMIC RETICULUM INTERMEMBRANE SMALL PROTEIN; ERIS;; NUTRIENT DEPRIVATION AUTOPHAGY FACTOR 1; NAF1 Asterisk 611508 CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 2; CAMTA2 KIAA0909 Asterisk 611509 CENTROMERIC PROTEIN N; CENPN Asterisk 611510 CENTROMERIC PROTEIN T; CENPT Asterisk 611511 MLF1-INTERACTING PROTEIN; MLF1IP CENTROMERIC PROTEIN U; CENPU;; CENP50 Asterisk 611512 LYSINE-SPECIFIC DEMETHYLASE 3A; KDM3A K-SPECIFIC DEMETHYLASE 3A;; JMJC DOMAIN-CONTAINING HISTONE DEMETHYLASE 2A; JHDM2A;; TESTIS-SPECIFIC GENE A; TSGA;; KIAA0742;; JUMONJI DOMAIN-CONTAINING PROTEIN 1A, FORMERLY; JMJD1A, FORMERLY Asterisk 611513 NEUROGENIC DIFFERENTIATION 6; NEUROD6 ATOH2;; MATH2 Asterisk 611514 WNTLESS, DROSOPHILA, HOMOLOG OF; WLS G PROTEIN-COUPLED RECEPTOR 177; GPR177;; EVENNESS INTERRUPTED, DROSOPHILA, HOMOLOG OF; EVI Percent 611515 FEBRILE SEIZURES, FAMILIAL, 7; FEB7 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7 Asterisk 611516 NICOLIN 1; NICN1 Asterisk 611517 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 11; CYP4F11 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 11 Asterisk 611518 DEDICATOR OF CYTOKINESIS 10; DOCK10 KIAA0694;; ZIZIMIN 3; ZIZ3 Asterisk 611519 POLYMERASE DELTA-INTERACTING PROTEIN 2; POLDIP2 PDIP38 Asterisk 611520 POLYMERASE DELTA-INTERACTING PROTEIN 3; POLDIP3 S6K1 ALY/REF-LIKE TARGET; SKAR;; PDIP46 Number Sign 611521 IMMUNODEFICIENCY 35; IMD35 TYROSINE KINASE 2 DEFICIENCY;; TYK2 DEFICIENCY;; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;; HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE Percent 611522 INTRAOCULAR PRESSURE QUANTITATIVE TRAIT LOCUS; IOPQTL GLAUCOMA, SUSCEPTIBILITY TO Number Sign 611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS Asterisk 611524 ARGINYL-tRNA SYNTHETASE 2; RARS2 ARGINYL-tRNA SYNTHETASE, MITOCHONDRIAL;; RARSL Asterisk 611525 POLYMERASE (DNA-DIRECTED), DELTA 4; POLD4 CDM1, S. POMBE, HOMOLOG OF;; DNA POLYMERASE, DELTA 4, SMALLEST SUBUNIT; POLDS;; P12 Asterisk 611526 NOP14, S. CEREVISIAE, HOMOLOG OF; NOP14 NUCLEOLAR PROTEIN 14; NOL14;; RES4-25 Asterisk 611527 Na+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 1; NHEDC1 SODIUM/HYDROGEN EXCHANGER DOMAIN-CONTAINING PROTEIN 1;; Na+/H+ EXCHANGER PROTEIN Number Sign 611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 12; ARVC12 Asterisk 611529 CYTOCHROME P450, FAMILY 2, SUBFAMILY S, POLYPEPTIDE 1; CYP2S1 CYTOCHROME P450, SUBFAMILY IIS, POLYPEPTIDE 1 Asterisk 611530 NEUROLYSIN; NLN KIAA1226;; NEUROTENSIN ENDOPEPTIDASE;; ANGIOTENSIN-BINDING PROTEIN; AGTBP Asterisk 611531 ESSENTIAL FOR MITOTIC GROWTH 1, S. CEREVISIAE, HOMOLOG OF; EMG1 NUCLEOLAR ESSENTIAL PROTEIN 1; NEP1;; C2F Asterisk 611532 NUCLEOLAR PROTEIN 6; NOL6 NUCLEOLAR RNA-ASSOCIATED PROTEIN; NRAP;; UTP22, S. CEREVISIAE, HOMOLOG OF; UTP22 Asterisk 611533 NUCLEOLAR PROTEIN 7; NOL7 NUCLEOLAR PROTEIN, 27-KD;; RETINOIC ACID REPRESSIBLE PROTEIN Asterisk 611534 NUCLEOLAR PROTEIN 8; NOL8 NOP132 Percent 611535 MAJOR AFFECTIVE DISORDER 5; MAFD5 BIPOLAR AFFECTIVE DISORDER; BPAD Percent 611536 MAJOR AFFECTIVE DISORDER 6; MAFD6 BIPOLAR AFFECTIVE DISORDER; BPAD Asterisk 611537 CATENIN, BETA-LIKE, 1; CTNNBL1 NUCLEAR-ASSOCIATED PROTEIN; NAP NYD-SP19, INCLUDED Asterisk 611538 OLFACTORY RECEPTOR, FAMILY 7, SUBFAMILY D, MEMBER 4; OR7D4 OLFACTORY RECEPTOR OR19-7;; ODORANT RECEPTOR FAMILY SUBFAMILY D, MEMBER 4RT;; OR19-B Asterisk 611539 FORKHEAD BOX D3; FOXD3 HFH2;; GENESIS, MOUSE, HOMOLOG OF Asterisk 611540 SH3-DOMAIN GRB2-LIKE (ENDOPHILIN)-INTERACTING PROTEIN 1; SGIP1 Asterisk 611541 SORTING NEXIN 27; SNX27 METHAMPHETAMINE-RESPONSIVE TRANSCRIPT 1; MRT1 Asterisk 611542 ARYLSULFATASE B; ARSB Number Sign 611543 CAVITARY OPTIC DISC ANOMALIES; CODA Number Sign 611544 CATARACT 17, MULTIPLE TYPES; CTRCT17 CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3 Asterisk 611545 CYTOCHROME P450, FAMILY 4, SUBFAMILY F, POLYPEPTIDE 8; CYP4F8 CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 8 Asterisk 611546 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 6; ELOVL6 LONG-CHAIN FATTY-ACYL ELONGASE; LCE;; FATTY ACYL-CoA ELONGASE; FACE Percent 611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9 Number Sign 611548 PREMATURE OVARIAN FAILURE 5; POF5 Asterisk 611549 SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN Asterisk 611550 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 3; NCR3 1C7;; ACTIVATING NATURAL KILLER RECEPTOR p30; NKp30;; CD337 ANTIGEN; CD337 Asterisk 611551 FIBULIN 7; FBLN7 TM14, MOUSE, HOMOLOG OF Asterisk 611552 NICOTINATE PHOSPHORIBOSYLTRANSFERASE DOMAIN-CONTAINING 1; NAPRT1 NICOTINIC ACID PHOSPHORIBOSYLTRANSFERASE Number Sign 611553 NOONAN SYNDROME 5; NS5 Number Sign 611554 LEOPARD SYNDROME 2; LPRD2 NULL 611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES Number Sign 611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE; GSD0B GSD 0b;; MUSCLE GLYCOGEN STORAGE DISEASE 0;; MUSCLE GLYCOGEN SYNTHASE DEFICIENCY Asterisk 611557 UROPLAKIN 1A; UPK1A UPIA Asterisk 611558 UROPLAKIN 2; UPK2 UP2;; UPII Asterisk 611559 UROPLAKIN 3A; UPK3A UROPLAKIN 3; UPK3;; UPIII;; UPIIIA Number Sign 611560 JOUBERT SYNDROME 7; JBTS7 Number Sign 611561 MECKEL SYNDROME, TYPE 5; MKS5 Asterisk 611562 SEPTIN 12; SEPT12 Asterisk 611563 SEPTIN 13; SEPT13 Asterisk 611564 BTG3-ASSOCIATED NUCLEAR PROTEIN; BANP SCAFFOLD/MATRIX-ASSOCIATED REGION 1; SMAR1 Asterisk 611565 KIAA1109 GENE; KIAA1109 TWEEK, DROSOPHILA, HOMOLOG OF; TWEEK Asterisk 611566 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 1-LIKE 1; PRPS1L1 PRPS1-LIKE 1;; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE 3; PRPS3 Asterisk 611567 MACRO DOMAIN-CONTAINING 2; MACROD2 CHROMOSOME 20 OPEN READING FRAME 133; C20ORF133 Asterisk 611568 SYNTABULIN; SYBU GOLGI-LOCALIZED SYNTAPHILIN-RELATED PROTEIN; GOLSYN;; KIAA1472 GOLSYN A, INCLUDED;; GOLSYN B, INCLUDED;; GOLSYN C, INCLUDED Asterisk 611569 CYTOSKELETON-ASSOCIATED PROTEIN 2; CKAP2 TUMOR- AND MICROTUBULE-ASSOCIATED PROTEIN; TMAP;; LB1 Asterisk 611570 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1 FRUCTOSE-1,6-BISPHOSPHATASE, LIVER;; FRUCTOSE-1,6-DIPHOSPHATASE Percent 611571 OTOSCLEROSIS 4; OTSC4 Percent 611572 OTOSCLEROSIS 7; OTSC7 Asterisk 611573 SPHINGOMYELIN SYNTHASE 1; SGMS1 SMS1;; TRANSMEMBRANE PROTEIN 23; TMEM23;; MEDULLA OBLONGATA-DERIVED PROTEIN; MOB Asterisk 611574 SPHINGOMYELIN SYNTHASE 2; SGMS2 SMS2 Asterisk 611575 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 8; SAMD8 SPHINGOMYELIN SYNTHASE-RELATED; SMSR Asterisk 611576 MICRO RNA 10B; MIR10B miRNA10B;; MIRN10B Asterisk 611577 LYSINE-SPECIFIC DEMETHYLASE 6B; KDM6B JUMONJI DOMAIN-CONTAINING PROTEIN 3; JMJD3;; KIAA0346 Asterisk 611578 FERRIC CHELATE REDUCTASE 1; FRRS1 STROMAL CELL-DERIVED RECEPTOR 2, MOUSE, HOMOLOG OF; SDR2 Asterisk 611579 TRANSMEMBRANE PROTEIN 114; TMEM114 Asterisk 611580 EPIDIDYMAL PROTEIN 3A; EDDM3A HUMAN EPIDIDYMIS-SPECIFIC PROTEIN 3, ALPHA; HE3A;; FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER A; FAM12A Caret 611581 MOVED TO 601067 Asterisk 611582 FAMILY WITH SEQUENCE SIMILARITY 12, MEMBER B; FAM12B HUMAN EPIDIDYMIS-SPECIFIC 3, BETA; HE3B Asterisk 611583 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 5A; ARID5A ARID-CONTAINING PROTEIN 5A;; MODULATOR RECOGNITION FACTOR 1; MRF1 Number Sign 611584 WAARDENBURG SYNDROME, TYPE 2E; WS2E HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION;; WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT;; WAARDENBURG SYNDROME, TYPE IIE Asterisk 611585 TESCALCIN, MOUSE, HOMOLOG OF; TESC TSC Asterisk 611586 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 1; C1QL1 C1q-RELATED FACTOR; CRF;; C1QRF Asterisk 611587 RHO GTPase-ACTIVATING PROTEIN 19; ARHGAP19 GTPase-ACTIVATING PROTEIN, RHO, 19 Number Sign 611588 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4; MDDGC4 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 13; LGMDR13;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M Asterisk 611589 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 5; PNPLA5 GS2-LIKE PROTEIN; GS2L Number Sign 611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA RTA, DISTAL, AUTOSOMAL RECESSIVE, WITH HEMOLYTIC ANEMIA RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED Asterisk 611591 PRO-PLATELET BASIC PROTEIN PSEUDOGENE 2; PPBPP2 PRO-PLATELET BASIC PROTEIN-LIKE 2; PPBPL2;; DNA-BINDING PROTEIN AMPLIFYING EXPRESSION OF SURFACTANT PROTEIN B Asterisk 611592 PHENYLALANYL-tRNA SYNTHETASE 2, MITOCHONDRIAL; FARS2 FARS1;; MITOCHONDRIAL PHERS Asterisk 611593 SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 3B; SMR3B SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 1, MOUSE, HOMOLOG OF, B; SMR1B;; PROLINE-RICH PROTEIN 3; PRL3;; PBII P-B PEPTIDE, INCLUDED Asterisk 611594 UBIQUITIN-SPECIFIC PROTEASE 39; USP39 snRNP ASSEMBLY DEFECTIVE 1, S. CEREVISIAE, HOMOLOG OF; SAD1 Asterisk 611595 THIOREDOXIN-LIKE 4A; TXNL4A DIM1, S. POMBE, HOMOLOG OF; DIM1;; U5 snRNP-SPECIFIC PROTEIN, 15-KD;; U5-15KD Asterisk 611596 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4; DHRS4 SDR FAMILY, MEMBER 4;; NADPH-DEPENDENT RETINOL DEHYDROGENASE/REDUCTASE; NRDR Number Sign 611597 CATARACT 12, MULTIPLE TYPES; CTRCT12 Percent 611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 6 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AIS5, INCLUDED Asterisk 611599 MICRO RNA 206; MIR206 miRNA206;; MIRN206 Asterisk 611600 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 3; RIMS3 RIM3-GAMMA;; NIM3;; KIAA0237 Asterisk 611601 PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 4; RIMS4 RIM4-GAMMA Asterisk 611602 RIMS-BINDING PROTEIN 2; RIMBP2 KIAA0318 Number Sign 611603 LISSENCEPHALY 3; LIS3 Asterisk 611604 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 1; ERLIN1 KEO4 Asterisk 611605 ENDOPLASMIC RETICULUM LIPID RAFT-ASSOCIATED PROTEIN 2; ERLIN2 SPFH DOMAIN-CONTAINING PROTEIN 2; SPFH2;; CHROMOSOME 8 OPEN READING FRAME 2; C8ORF2 Asterisk 611606 MICRO RNA 96; MIR96 miRNA96;; MIRN96 Asterisk 611607 MICRO RNA 182; MIR182 miRNA182;; MIRN182 Asterisk 611608 MICRO RNA 183; MIR183 miRNA183;; MIRN183 Asterisk 611609 SIPA1-LIKE PROTEIN 2; SIPA1L2 KIAA1389 Asterisk 611610 PHOSPHOGLUCOMUTASE 2-LIKE 1; PGM2L1 Asterisk 611611 S-PHASE CYCLIN A-ASSOCIATED PROTEIN IN THE ENDOPLASMIC RETICULUM; SCAPER KIAA1454;; ZINC FINGER PROTEIN 291; ZNF291 Asterisk 611612 THIAMINE TRIPHOSPHATASE; THTPA THTPase Asterisk 611613 PROTEIN O-GLUCOSYLTRANSFERASE 2; POGLUT2 KDEL MOTIF-CONTAINING PROTEIN 1; KDELC1;; ENDOPLASMIC RETICULUM RESIDENT PROTEIN 58; EP58 Asterisk 611614 UTP3, S. CEREVISIAE, HOMOLOG OF; UTP3 CHARGED AMINO ACID-RICH LEUCINE ZIPPER 1; CRL1; CRLZ1 Number Sign 611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS Asterisk 611616 NAD KINASE; NADK Asterisk 611617 EF-HAND DOMAIN FAMILY, MEMBER D1; EFHD1 Caret 611618 MOVED TO 248370 Asterisk 611619 MICRO RNA 877; MIR877 miRNA877;; MIRN877 Asterisk 611620 MICRO RNA 1224; MIR1224 miRNA1224;; MIRN1224 Asterisk 611621 MICRO RNA 1225; MIR1225 miRNA1225;; MIRN1225 Asterisk 611622 IQ MOTIF-CONTAINING PROTEIN J; IQCJ IQCJ/SCHIP1 FUSION GENE, INCLUDED Asterisk 611623 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 1; NECAP1 ADAPTIN EAR-BINDING COAT-ASSOCIATED PROTEIN 1 Asterisk 611624 NECAP ENDOCYTOSIS-ASSOCIATED PROTEIN 2; NECAP2 ADAPTIN EAR-BINDING COAT-ASSOCIATED PROTEIN 2 Asterisk 611625 GID COMPLEX, SUBUNIT 8; GID8 GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 8, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 20 OPEN READING FRAME 11; C20ORF11;; TWO-HYBRID-ASSOCIATED PROTEIN WITH RANBPM 1; TWA1 Asterisk 611626 M-PHASE PHOSPHOPROTEIN 8; MPHOSPH8 MPP8;; TWO-HYBRID-ASSOCIATED PROTEIN WITH RANBPM 3; TWA3 Asterisk 611627 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER A; FAM57A CT120 Asterisk 611628 NEURON NAVIGATOR 1; NAV1 PORE MEMBRANE- AND/OR FILAMENT-INTERACTING-LIKE PROTEIN 3; POMFIL3;; KIAA1151 Asterisk 611629 NEURON NAVIGATOR 3; NAV3 PORE MEMBRANE- AND/OR FILAMENT-INTERACTING-LIKE PROTEIN 1; POMFIL1;; KIAA0938 Percent 611630 EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE Percent 611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4 EPILEPSY, OCCIPITOTEMPORAL LOBE, AND MIGRAINE WITH AURA; EPOLM Asterisk 611632 UbiA PRENYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; UBIAD1 TRANSITIONAL EPITHELIAL RESPONSE PROTEIN 1; TERE1 Asterisk 611633 RTF1, S. CEREVISIAE, HOMOLOG OF; RTF1 KIAA0252 Percent 611634 FEBRILE SEIZURES, FAMILIAL, 9; FEB9 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9 Asterisk 611635 NEUROGENIC DIFFERENTIATION 4; NEUROD4 MATH3 Asterisk 611636 N-ACETYLATED ALPHA-LINKED ACIDIC DIPEPTIDASE 2; NAALAD2 NAALADase II Percent 611637 PRIMARY LATERAL SCLEROSIS, ADULT, 1; PLSA1 PLS, ADULT; PLSA Number Sign 611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5 Asterisk 611639 ZINC FINGER GATA-LIKE PROTEIN 1; ZGLP1 GATA-LIKE PROTEIN 1; GLP1 Asterisk 611640 FIBRONECTIN TYPE III AND ANKYRIN REPEAT DOMAINS 1; FANK1 Asterisk 611641 CANCER SUSCEPTIBILITY GENE HEPN1; HEPN1 Asterisk 611642 HEPATOCYTE CELL ADHESION MOLECULE; HEPACAM GLIAL CELL ADHESION MOLECULE; GLIALCAM;; HEPATOCYTE AND GLIAL CELL ADHESION MOLECULE Asterisk 611643 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 4; ZKSCAN4 ZINC FINGER PROTEIN 307; ZNF307 Percent 611644 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9 Asterisk 611645 CXXC FINGER PROTEIN 4; CXXC4 DVL1-BINDING PROTEIN;; INHIBITOR OF DVL/AXIN COMPLEX; IDAX Asterisk 611646 SPHK1-INTERACTING PROTEIN; SPHKAP SPHK1 INTERACTOR, AKAP DOMAIN-CONTAINING;; SKIP;; KIAA1678 Asterisk 611647 ARV1, S. CEREVISIAE, HOMOLOG OF; ARV1 Asterisk 611648 DIPHOSPHOINOSITOL PENTAKISPHOSPHATE KINASE 2; PPIP5K2 HISTIDINE ACID PHOSPHATASE DOMAIN-CONTAINING PROTEIN 1; HISPPD1;; VIP2;; KIAA0433 Asterisk 611649 MINDY LYSINE-48 DEUBIQUITINASE 3; MINDY3 CARD-CONTAINING PROTEIN; CARP;; CHROMOSOME 10 OPEN READING FRAME 97; C10ORF97;; FAMILY WITH SEQUENCE SIMILARITY 188, MEMBER A; FAM188A NULL 611650 PERIPAPILLARY ATROPHY, BETA TYPE; PPAB BETA-PPA;; PERIPAPILLARY CHORIORETINAL ATROPHY, BETA TYPE Asterisk 611651 PHOSPHOLIPASE A2, GROUP III; PLA2G3 PHOSPHOLIPASE A2, SECRETED, GROUP III;; GIII-SPLA2;; SPLA2-III Asterisk 611652 PHOSPHOLIPASE A2, GROUP XIIA; PLA2G12A PHOSPHOLIPASE A2, SECRETED, GROUP XII;; SPLA2-GXII;; GXII;; ROSSY Asterisk 611653 PHOSPHOLIPASE A2, GROUP XIIB; PLA2G12B PHOSPHOLIPASE A2, SECRETED, GROUP XIIB;; SPLA2-GXIIB;; GXIIB Asterisk 611654 CENTROSOME SPINDLE POLE-ASSOCIATED PROTEIN 1; CSPP1 CSPP CSPP1-S, INCLUDED;; CSPP1-L, INCLUDED Asterisk 611655 POST-GPI ATTACHMENT TO PROTEINS 1; PGAP1 GPI DEACYLASE Asterisk 611656 SUPPRESSOR OF IKBKE 1; SIKE1 SUPPRESSOR OF IKK-EPSILON; SIKE Asterisk 611657 SPRY DOMAIN- AND SOCS BOX-CONTAINING 1; SPSB1 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 1; SSB1 Asterisk 611658 SPRY DOMAIN- AND SOCS BOX-CONTAINING 2; SPSB2 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 2; SSB2 Asterisk 611659 SPRY DOMAIN- AND SOCS BOX-CONTAINING 3; SPSB3 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 3; SSB3 Asterisk 611660 SPRY DOMAIN- AND SOCS BOX-CONTAINING 4; SPSB4 SPRY DOMAIN-CONTAINING SOCS BOX PROTEIN 4; SSB4 Asterisk 611661 DBF4, S. CEREVISIAE, HOMOLOG OF, B; DBF4B DBF4-RELATED FACTOR 1; DRF1;; ASK-LIKE 1; ASKL1 Asterisk 611662 EOSINOPHIL GRANULE ONTOGENY EGO Asterisk 611663 TBC1 DOMAIN FAMILY, MEMBER 20; TBC1D20 CHROMOSOME 20 OPEN READING FRAME 140; C20ORF140 Number Sign 611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7 SKIN/HAIR/EYE PIGMENTATION 7, BLOND/BROWN HAIR;; SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN Asterisk 611665 DEAD/H BOX 54; DDX54 DEAD BOX RNA HELICASE, 97-KD; DP97 Asterisk 611666 PHOSPHOLIPID PHOSPHATASE 6; PLPP6 PPAP2 DOMAIN-CONTAINING PROTEIN 2; PPAPDC2 Asterisk 611667 SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2; SPATS2 SPATA10;; SERINE-RICH SPERMATOCYTES AND ROUND SPERMATID PROTEIN, 59-KD; P59SCR;; SCR59 Asterisk 611668 CORONIN 7; CORO7 POLARITY-OSMOTIC DEFECTIVE 1, DROSOPHILA, HOMOLOG OF; POD1;; CRN7 Asterisk 611669 tRNA METHYLTRANSFERASE 1, S. CEREVISIAE, HOMOLOG OF; TRMT1 TRM1;; N2,N2-DIMETHYLGUANOSINE-26 tRNA METHYLTRANSFERASE;; tRNA(m(2,2)G26)DIMETHYLTRANSFERASE Asterisk 611670 INOSITOL-3-PHOSPHATE SYNTHASE 1; ISYNA1 MYOINOSITOL 1-PHOSPHATE SYNTHASE A1;; IPS Asterisk 611671 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Z PROTEIN; PIGZ SMP3, S. CEREVISIAE, HOMOLOG OF; SMP3 Asterisk 611672 SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1 HEME CARRIER PROTEIN 1; HCP1;; PROTON-COUPLED FOLATE TRANSPORTER; PCFT Asterisk 611673 tRNA METHYLTRANSFERASE 1-LIKE; TRMT1L TRM1-LIKE; TRM1L;; CHROMOSOME 1 OPEN READING FRAME 25; C1ORF25 Asterisk 611674 X KELL BLOOD GROUP PRECURSOR-RELATED FAMILY, MEMBER 3; XKR3 XTES;; XRG3 Asterisk 611675 KIAA0513 GENE; KIAA0513 Asterisk 611676 PHOSDUCIN-LIKE 2; PDCL2 Asterisk 611677 OLFACTORY RECEPTOR, FAMILY 13, SUBFAMILY G, MEMBER 1; OR13G1 OR1-37 Asterisk 611678 PHOSDUCIN-LIKE 3; PDCL3 VIRAL IAP-ASSOCIATED FACTOR; VIAF;; PHLP2A Asterisk 611679 F-BOX AND WD40 DOMAIN PROTEIN 10; FBXW10 Asterisk 611680 SPECIFICALLY ANDROGEN-REGULATED GENE SARG;; CHROMOSOME 1 OPEN READING FRAME 116; C1ORF116 Asterisk 611681 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 20; ADAMTS20 Asterisk 611682 LIPOPROTEIN(a)-LIKE 2; LPAL2 LP(a)-LIKE 2;; LPA-LIKE 2;; APOLIPOPROTEIN(a)-RELATED GENE C; APOARGC Asterisk 611683 FRUCTOSAMINE 3-KINASE-RELATED PROTEIN FN3K-RELATED PROTEIN; FN3KRP Asterisk 611684 SQUAMOUS CELL CARCINOMA ANTIGEN RECOGNIZED BY T CELLS 3; SART3 TAT-INTERACTING PROTEIN, 110-KD: TIP110;; p110;; KIAA0156 Asterisk 611685 RING FINGER PROTEIN 8; RNF8 KIAA0646 Asterisk 611686 CAS1 DOMAIN-CONTAINING PROTEIN 1; CASD1 CHROMOSOME 7 OPEN READING FRAME 12; C7ORF12 Asterisk 611687 KHDC3-LIKE PROTEIN, SUBCORTICAL MATERNAL COMPLEX MEMBER; KHDC3L CHROMOSOME 6 OPEN READING FRAME 221; C6ORF221;; EMBRYONIC STEM CELL-ASSOCIATED TRANSCRIPT 1; ECAT1 Asterisk 611688 KH HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; KHDC1 Asterisk 611689 OOCYTE-EXPRESSED PROTEIN, DOG, HOMOLOG OF; OOEP KH HOMOLOGY DOMAIN-CONTAINING PROTEIN 2; KHDC2;; FLOPED, MOUSE, HOMOLOG OF; FLOPED Asterisk 611690 PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 4; PRRG4 PROLINE-RICH GLA PROTEIN 4; PRGP4;; TRANSMEMBRANE GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 4; TMG4 Asterisk 611691 SUSHI, VON WILLEBRAND FACTOR TYPE A, EGF, AND PENTRAXIN DOMAINS-CONTAINING 1; SVEP1 POLYDOM;; SELECTIN-LIKE OSTEOBLAST-DERIVED PROTEIN; SELOB Asterisk 611692 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 34; ZBTB34 KIAA1993 Asterisk 611693 COXSACKIEVIRUS- AND ADENOVIRUS RECEPTOR-LIKE MEMBRANE PROTEIN; CLMP CXADR-LIKE MEMBRANE PROTEIN;; ADIPOCYTE-SPECIFIC ADHESION MOLECULE; ASAM;; ADIPOCYTE ADHESION MOLECULE; ACAM Percent 611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA Asterisk 611695 TAU TUBULIN KINASE 2; TTBK2 Asterisk 611696 SOLUTE CARRIER FAMILY 22, MEMBER 20; SLC22A20 ORGANIC ANION TRANSPORTER 6; OAT6 Asterisk 611697 CHROMOSOME 6 OPEN READING FRAME 85; C6ORF85 SOLUTE CARRIER FAMILY 22, MEMBER 23; SLC22A23 Asterisk 611698 SOLUTE CARRIER FAMILY 22, MEMBER 24; SLC22A24 Asterisk 611699 SV2-RELATED PROTEIN; SVOP Asterisk 611700 SV2-RELATED PROTEIN-LIKE; SVOPL Asterisk 611701 SPHINGOLIPID TRANSPORTER 3; SPNS3 SPINSTER, DROSOPHILA, HOMOLOG OF, 3 NULL 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE Asterisk 611703 ZINC FINGER PROTEIN 436; ZNF436 KIAA1710 Asterisk 611704 TRANSMEMBRANE PROTEASE, SERINE 11A; TMPRSS11A ESOPHAGEAL CANCER-RELATED GENE 1; ECRG1 Number Sign 611705 SALIH MYOPATHY; SALMY MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY; EOMFC Percent 611706 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12; MGR12 Asterisk 611707 MYELIN PROTEIN ZERO-LIKE 3; MPZL3 Asterisk 611708 MICRO RNA 431; MIR431 miRNA431;; MIRN431 Asterisk 611709 MICRO RNA 127; MIR127 miRNA127;; MIRN127 Asterisk 611710 MICRO RNA 136; MIR136 miRNA136;; MIRN136 Asterisk 611711 MICRO RNA 433; MIR433 miRNA433;; MIRN433 Asterisk 611712 HOMEODOMAIN-INTERACTING PROTEIN KINASE 4; HIPK4 Asterisk 611713 TCTEX1 DOMAIN-CONTAINING PROTEIN 4; TCTEX1D4 TCTEX2-BETA Asterisk 611714 GTPase-ACTIVATING PROTEIN AND VPS9 DOMAINS 1; GAPVD1 RAB5-ACTIVATING PROTEIN 6; RAP6;; RAB5 EXCHANGE FACTOR; GAPEX5;; KIAA1521 Asterisk 611715 STEROID 5-ALPHA-REDUCTASE 3; SRD5A3 STEROID 5-ALPHA-REDUCTASE 2-LIKE 1; SRD5A2L1;; SRD5A2L;; POLYPRENOL REDUCTASE Asterisk 611716 ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2; ATP6V0A2 A2V-ATPase Percent 611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH SED-BDS;; FANTASY ISLAND SYNDROME;; TATOO DYSPLASIA Number Sign 611718 HYPOMAGNESEMIA 4, RENAL; HOMG4 HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC Number Sign 611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5 Asterisk 611720 INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN LIKE; IRF2BPL CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4;; ENHANCED AT PUBERTY 1; EAP1 Number Sign 611721 COMBINED SAPOSIN DEFICIENCY PROSAPOSIN DEFICIENCY; PSAPD;; COMBINED SAP DEFICIENCY Number Sign 611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY SAPOSIN A DEFICIENCY Asterisk 611723 CHROMOSOME 21 OPEN READING FRAME 24; C21ORF24 Number Sign 611724 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8 SKIN/HAIR/EYE PIGMENTATION 8, BROWN HAIR;; SKIN/HAIR/EYE PIGMENTATION 8, FAIR SKIN;; SKIN/HAIR/EYE PIGMENTATION 8, BLUE/LIGHT EYE COLOR;; SKIN/HAIR/EYE PIGMENTATION 8, FRECKLING/SUNBURN Asterisk 611725 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 7; KCTD7 Number Sign 611726 EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 CEROID LIPOFUSCINOSIS, NEURONAL, 14; CLN14 Asterisk 611727 CHROMOSOME 1 OPEN READING FRAME 76; C1ORF76 NEUROBLASTOMA-DERIVED SECRETORY PROTEIN; NDSP Asterisk 611728 PROLINE-RICH PROTEIN 5-LIKE; PRR5L PROTEIN OBSERVED WITH RICTOR 2; PROTOR2;; FLJ14213 Asterisk 611729 KINESIN LIGHT CHAIN 2; KLC2 Asterisk 611730 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 5; EPB41L5 KIAA1548 Asterisk 611731 APC GENE; APC DELETED IN POLYPOSIS 2.5; DP2.5 Asterisk 611732 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; MBOAT1 MEMBRANE-BOUND O-ACETYLTRANSFERASE 1;; LYSOPHOSPHATIDYLETHANOLAMINE ACYLTRANSFERASE 1; LPEAT1 NULL 611733 DAUWERSE-PETERS SYNDROME SHORT STATURE, FACIAL DYSMORPHISM, SEVERE BRACHYDACTYLY, AND SYNDACTYLY Asterisk 611734 WD REPEAT-CONTAINING PROTEIN 77; WDR77 METHYLOSOME PROTEIN, 50-KD; MEP50;; ANDROGEN RECEPTOR-ASSOCIATED PROTEIN, 44-KD; p44 Asterisk 611735 CUB DOMAIN-CONTAINING PROTEIN 1; CDCP1 SIMA135;; CD318 ANTIGEN; CD318 Asterisk 611736 GREB1 PROTEIN GREB1;; KIAA0575 Asterisk 611737 SEPTIN 10; SEPT10 SEPT1-LIKE Percent 611738 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7 Percent 611739 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 8; BMND8 OSTEOPOROSIS, SUSCEPTIBILITY TO Asterisk 611740 BETA-CAROTENE OXYGENASE 2; BCO2 BETA-CAROTENE DIOXYGENASE 2; BCDO2;; BETA-DIOX-II;; BETA-CAROTENE 9-PRIME,10-PRIME MONOOXYGENASE;; BETA-CAROTENE 9-PRIME,10-PRIME OXYGENASE Asterisk 611741 CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL 3; ACCN3 ACID-SENSING ION CHANNEL 3; ASIC3;; TESTIS SODIUM CHANNEL 1; TNAC1;; DORSAL ROOT ACID-SENSING ION CHANNEL; DRASIC Number Sign 611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9 SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR;; SKIN/HAIR/EYE PIGMENTATION 9, BROWN/NONBROWN EYES;; SKIN/HAIR/EYE PIGMENTATION 9, RED/NONRED HAIR;; SKIN/HAIR/EYE PIGMENTATION 9, FRECKLING/SUNBURN Asterisk 611743 PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G6; PLEKHG6 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 6;; MYOSIN-INTERACTING GUANINE NUCLEOTIDE EXCHANGE FACTOR; MYOGEF Asterisk 611744 OTU DOMAIN-CONTAINING PROTEIN 4; OTUD4 HIV-1 INTEGRATION 1; HIN1;; KIAA1046 Asterisk 611745 VCP/p47 COMPLEX-INTERACTING PROTEIN 1; VCPIP1 VCP/p47 COMPLEX-INTERACTING PROTEIN, 135-KD; VCIP135;; KIAA1850 Asterisk 611746 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 1; SCUBE1 Asterisk 611747 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 2; SCUBE2 Asterisk 611748 OTU DOMAIN-CONTAINING PROTEIN 7B; OTUD7B CELLULAR ZINC FINGER ANTI-NFKB;; CEZANNE Asterisk 611749 ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 1; ZRANB1 ZINC FINGER RAN-BINDING DOMAIN-CONTAINING PROTEIN 1;; TRAF-BINDING DOMAIN-CONTAINING PROTEIN; TRABID Asterisk 611750 SYNCOILIN 1; SYNC1 SYNCOILIN Asterisk 611751 THUMP DOMAIN-CONTAINING PROTEIN 2; THUMPD2 CHROMOSOME 2 OPEN READING FRAME 8; C2ORF8;; SAM-DEPENDENT METHYLTRANSFERASE Asterisk 611752 CHROMOSOME 2 OPEN READING FRAME 40; C2ORF40 ESOPHAGEAL CANCER-RELATED GENE 4; ECRG4 Asterisk 611753 VACUOLE MEMBRANE PROTEIN 1; VMP1 TRANSMEMBRANE PROTEIN 49; TMEM49 Asterisk 611754 ALPHA-AMINOADIPATE AMINOTRANSFERASE; AADAT KYNURENINE AMINOTRANSFERASE II; KAT2 Number Sign 611755 LEBER CONGENITAL AMAUROSIS 10; LCA10 Asterisk 611756 RHOPHILIN ASSOCIATED TAIL PROTEIN 1-LIKE; ROPN1L ROPN1-LIKE PROTEIN;; AKAP-ASSOCIATED SPERM PROTEIN; ASP;; RADIAL SPOKE HEAD 11, CHLAMYDOMONAS, HOMOLOG OF; RSPH11 Asterisk 611757 RHOPHILIN-ASSOCIATED TAIL PROTEIN 1; ROPN1 ROPPORIN;; OUTER DENSE FIBER OF SPERM TAILS 6; ODF6 Asterisk 611758 OTU DOMAIN-CONTAINING PROTEIN 3; OTUD3 KIAA0459 Asterisk 611759 STARD3 N-TERMINAL-LIKE; STARD3NL MLN64 N-TERMINAL DOMAIN HOMOLOG; MENTHO Asterisk 611760 PROTOCADHERIN 17; PCDH17 PROTOCADHERIN 68; PCDH68 Asterisk 611761 LIPASE MATURATION FACTOR 1; LMF1 TRANSMEMBRANE PROTEIN 112; TMEM112 Number Sign 611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2 Asterisk 611763 LIMB BUD AND HEART DEVELOPMENT, MOUSE, HOMOLOG OF; LBH Asterisk 611764 CORNIFELIN; CNFN Asterisk 611765 ASPARTIC PEPTIDASE, RETROVIRAL-LIKE 1; ASPRV1 SKIN ASPARTIC PROTEASE; SASP;; SASPase;; TPA-INDUCIBLE ASPARTIC PROTEINASE; TAPS;; MUNO Asterisk 611766 MITOCHONDRIAL METHIONYL-tRNA FORMYLTRANSFERASE; MTFMT Asterisk 611767 MICRO RNA 126; MIR126 miRNA126;; MIRN126 MICRO RNA 126*, INCLUDED; MIR126*, INCLUDED;; MICRO RNA 123, INCLUDED; MIR123, INCLUDED Asterisk 611768 MICRO RNA 335; MIR335 miRNA335;; MIRN335 Asterisk 611769 MICRO RNA 128-2; MIR128-2 miRNA128-2;; MIRN128-2;; MIR128B Asterisk 611770 NK2, DROSOPHILA, HOMOLOG OF, 6; NKX2-6 CARDIAC-SPECIFIC HOMEOBOX 2; CSX2 Number Sign 611771 LIPOPROTEIN GLOMERULOPATHY; LPG Asterisk 611772 NUF2, S. CEREVISIAE, HOMOLOG OF; NUF2 NUF2R;; CELL DIVISION CYCLE-ASSOCIATED PROTEIN 1; CDCA1 Number Sign 611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC Asterisk 611774 MICRO RNA 128-1; MIR128-1 miRNA128-1;; MIRN128-1;; MIR128A Number Sign 611775 KAWASAKI DISEASE KD;; MUCOCUTANEOUS LYMPH NODE SYNDROME;; INFANTILE POLYARTERITIS Asterisk 611776 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 4; NDUFAF4 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 4;; HORMONE-REGULATED PROLIFERATION-ASSOCIATED PROTEIN, 20-KD; HRPAP20;; CHROMOSOME 6 OPEN READING FRAME 66; C6ORF66 Number Sign 611777 BRUGADA SYNDROME 2; BRGDA2 Asterisk 611778 GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1-LIKE; GPD1L KIAA0089 Asterisk 611779 FIBROUS SHEATH CABYR-BINDING PROTEIN; FSCB CHROMOSOME 14 OPEN READING FRAME 155; C14ORF155 Asterisk 611780 PHD AND RING FINGER DOMAIN-CONTAINING PROTEIN 1; PHRF1 KIAA1542 Asterisk 611781 PR DOMAIN-CONTAINING PROTEIN 14; PRDM14 PFM11 Asterisk 611782 DOWN SYNDROME CELL ADHESION MOLECULE-LIKE 1; DSCAML1 DSCAM-LIKE 1;; KIAA1132 Number Sign 611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 Asterisk 611784 GENERAL TRANSCRIPTION FACTOR 3C, POLYPEPTIDE 6; GTF3C6 TRANSCRIPTION FACTOR IIIC, 35-KD SUBUNIT; TFIIIC35;; C6ORF51 Asterisk 611785 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 5; ABCB5 Asterisk 611786 MEDIATOR OF CELL MOTILITY 1; MEMO1 MEMO;; CHROMOSOME 2 OPEN READING FRAME 4; C2ORF4 Asterisk 611787 CYTIDINE MONOPHOSPHATE (UMP-CMP) KINASE 2, MITOCHONDRIAL; CMPK2 CYTIDYLATE KINASE 2;; URIDINE MONOPHOSPHATE/CYTIDINE MONOPHOSPHATE 2;; UMP/CMP KINASE 2;; UMP/CMPK2 Number Sign 611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI Asterisk 611789 NA+/H+ EXCHANGER DOMAIN-CONTAINING PROTEIN 2; NHEDC2 SODIUM/HYDROGEN EXCHANGER DOMAIN-CONTAINING PROTEIN 2;; SODIUM HYDROGEN ANTIPORTER 2; NHA2 Asterisk 611790 MYOSIN VIIA- AND RAB-INTERACTING PROTEIN; MYRIP SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS C; SLAC2C Asterisk 611791 PATCHED DOMAIN-CONTAINING PROTEIN 3; PTCHD3 Asterisk 611792 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 4; ZCCHC4 Asterisk 611793 LSM12, S. CEREVISIAE, HOMOLOG OF; LSM12 Asterisk 611794 MICRO RNA 369; MIR369 miRNA369;; MIRN369;; MIR369-3p; MIR369-3 MICRO RNA 369-5p, INCLUDED; MIR369-5p, INCLUDED Asterisk 611795 MICRO RNA 145; MIR145 miRNA145;; MIRN145 Asterisk 611796 SECRETOGRANIN III; SCG3 Asterisk 611797 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX CHAPERONE 1; UQCC1 UQCC;; CBP3, S. CEREVISIAE, HOMOLOG OF; CBP3;; BASIC FIBROBLAST GROWTH FACTOR-REPRESSED ZIC-BINDING PROTEIN; BFZB;; BFGF-REPRESSED ZIC-BINDING PROTEIN;; CHROMOSOME 20 OPEN READING FRAME 44; C20ORF44 Asterisk 611798 EFR3, S. CEREVISIAE, HOMOLOG OF, A; EFR3A KIAA0143 Asterisk 611799 LIGAND-DEPENDENT NUCLEAR RECEPTOR COREPRESSOR-LIKE PROTEIN; LCORL LCOR-LIKE PROTEIN;; MBLK1-RELATED PROTEIN 1; MLR1 PRC2-ASSOCIATED LCOR ISOFORM 2, INCLUDED; PALI2, INCLUDED Asterisk 611800 THYROID ADENOMA-ASSOCIATED GENE; THADA KIAA1767 Asterisk 611801 POST-GPI ATTACHMENT TO PROTEINS 3; PGAP3 PER1-LIKE DOMAIN-CONTAINING PROTEIN 1; PERLD1;; GENE COAMPLIFIED WITH ERBB2; CAB2;; MGC9753 Asterisk 611802 MIGRATION AND INVASION ENHANCER 1; MIEN1 CHROMOSOME 17 OPEN READING FRAME 37; C17ORF37;; REDOX PROTEIN, 12-KD; RDX12;; C35 Asterisk 611803 INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 1; ITFG1 T-CELL IMMUNOMODULATORY PROTEIN; TIP Number Sign 611804 ELLIPTOCYTOSIS 1; EL1 ELLIPTOCYTOSIS, RHESUS-LINKED TYPE;; PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF;; 4.1-MINUS TRAIT;; 4.1- TRAIT Asterisk 611805 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 5; ELOVL5 HELO1 Asterisk 611806 ARSENIC (+3 OXIDATION STATE) METHYLTRANSFERASE; AS3MT S-ADENOSYL-L-METHIONINE:ARSENIC(III) METHYLTRANSFERASE;; CYT19 Asterisk 611807 TIP41-LIKE PROTEIN; TIPRL TIP41, S. CEREVISIAE, HOMOLOG OF; TIP41;; PROTEIN PHOSPHATASE 2A-INTERACTING PROTEIN; TIP NULL 611808 TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS; ETINPH Number Sign 611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB Asterisk 611810 USH1C-BINDING PROTEIN 1; USHBP1 MUTATED IN COLON CANCER 2; MCC2 Asterisk 611811 ZINC FINGER PROTEIN 333; ZNF333 KIAA1806 Number Sign 611812 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL SERKAL SYNDROME Asterisk 611813 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 1; ELOVL1 SSC1, MOUSE, HOMOLOG OF Asterisk 611814 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 2; ELOVL2 SSC2, MOUSE, HOMOLOG OF Asterisk 611815 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 3; ELOVL3 CIG30, MOUSE, HOMOLOG OF Number Sign 611816 TEMPLE-BARAITSER SYNDROME; TMBTS MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX Asterisk 611817 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY K, MEMBER 1; KLRK1 NKG2D Number Sign 611818 LONG QT SYNDROME 9; LQT9 LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED Number Sign 611819 LONG QT SYNDROME 10; LQT10 ATRIAL FIBRILLATION, FAMILIAL, 17, INCLUDED; ATFB17, INCLUDED Number Sign 611820 LONG QT SYNDROME 11; LQT11 Asterisk 611821 MITOCHONDRIAL RIBOSOMAL PROTEIN L1; MRPL1 Asterisk 611822 MITOCHONDRIAL RIBOSOMAL PROTEIN L2; MRPL2 Asterisk 611823 MITOCHONDRIAL RIBOSOMAL PROTEIN L4; MRPL4 Asterisk 611824 MITOCHONDRIAL RIBOSOMAL PROTEIN L9; MRPL9 Asterisk 611825 MITOCHONDRIAL RIBOSOMAL PROTEIN L10; MRPL10 MRPL8 Asterisk 611826 MITOCHONDRIAL RIBOSOMAL PROTEIN L11; MRPL11 Asterisk 611827 MITOCHONDRIAL RIBOSOMAL PROTEIN L14; MRPL14 MRPL32 Asterisk 611828 MITOCHONDRIAL RIBOSOMAL PROTEIN L15; MRPL15 Asterisk 611829 MITOCHONDRIAL RIBOSOMAL PROTEIN L16; MRPL16 Asterisk 611830 MITOCHONDRIAL RIBOSOMAL PROTEIN L17; MRPL17 Asterisk 611831 MITOCHONDRIAL RIBOSOMAL PROTEIN L18; MRPL18 Asterisk 611832 MITOCHONDRIAL RIBOSOMAL PROTEIN L19; MRPL19 MRPL15;; KIAA0104 Asterisk 611833 MITOCHONDRIAL RIBOSOMAL PROTEIN L20; MRPL20 Asterisk 611834 MITOCHONDRIAL RIBOSOMAL PROTEIN L21; MRPL21 Asterisk 611835 MITOCHONDRIAL RIBOSOMAL PROTEIN L22; MRPL22 MRPL25 Asterisk 611836 MITOCHONDRIAL RIBOSOMAL PROTEIN L24; MRPL24 Asterisk 611837 MITOCHONDRIAL RIBOSOMAL PROTEIN L27; MRPL27 Asterisk 611838 MITOCHONDRIAL RIBOSOMAL PROTEIN L30; MRPL30 MRPL28 Asterisk 611839 MITOCHONDRIAL RIBOSOMAL PROTEIN L32; MRPL32 Asterisk 611840 MITOCHONDRIAL RIBOSOMAL PROTEIN L34; MRPL34 Asterisk 611841 MITOCHONDRIAL RIBOSOMAL PROTEIN L35; MRPL35 Asterisk 611842 MITOCHONDRIAL RIBOSOMAL PROTEIN L36; MRPL36 Asterisk 611843 MITOCHONDRIAL RIBOSOMAL PROTEIN L37; MRPL37 Asterisk 611844 MITOCHONDRIAL RIBOSOMAL PROTEIN L38; MRPL38 Asterisk 611845 MITOCHONDRIAL RIBOSOMAL PROTEIN L39; MRPL39 MRPL5 Asterisk 611846 MITOCHONDRIAL RIBOSOMAL PROTEIN L41; MRPL41 MRPL27 Asterisk 611847 MITOCHONDRIAL RIBOSOMAL PROTEIN L42; MRPL42 MRPL31;; MRPS32 Asterisk 611848 MITOCHONDRIAL RIBOSOMAL PROTEIN L43; MRPL43 Asterisk 611849 MITOCHONDRIAL RIBOSOMAL PROTEIN L44; MRPL44 Asterisk 611850 MITOCHONDRIAL RIBOSOMAL PROTEIN L45; MRPL45 Asterisk 611851 MITOCHONDRIAL RIBOSOMAL PROTEIN L46; MRPL46 Asterisk 611852 MITOCHONDRIAL RIBOSOMAL PROTEIN L47; MRPL47 Asterisk 611853 MITOCHONDRIAL RIBOSOMAL PROTEIN L48; MRPL48 Asterisk 611854 MITOCHONDRIAL RIBOSOMAL PROTEIN L50; MRPL50 Asterisk 611855 MITOCHONDRIAL RIBOSOMAL PROTEIN L51; MRPL51 MRP64 Asterisk 611856 MITOCHONDRIAL RIBOSOMAL PROTEIN L52; MRPL52 Asterisk 611857 MITOCHONDRIAL RIBOSOMAL PROTEIN L53; MRPL53 Asterisk 611858 MITOCHONDRIAL RIBOSOMAL PROTEIN L54; MRPL54 Asterisk 611859 MITOCHONDRIAL RIBOSOMAL PROTEIN L55; MRPL55 Caret 611860 MOVED TO 210720 Asterisk 611861 ADP-DEPENDENT GLUCOKINASE; ADPGK ADP-GK Number Sign 611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1 Percent 611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA Asterisk 611864 ARMADILLO REPEAT-CONTAINING 10; ARMC10 SPLICING VARIANT INVOLVED IN HEPATOCARCINOGENESIS; SVH Asterisk 611865 L3MBT-LIKE 2; L3MBTL2 L3MBT, DROSOPHILA, HOMOLOG OF, 2 Asterisk 611866 RETINOL-BINDING PROTEIN 5; RBP5 CELLULAR RETINOL-BINDING PROTEIN 3; CRBP3;; CRBPIII Number Sign 611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL DISTAL CHROMOSOME 22q11.2 DELETION SYNDROME Number Sign 611868 PROSTATE CANCER, HEREDITARY, 12; HPC12 Asterisk 611869 RABAPTIN, RAB GTPase-BINDING EFFECTOR PROTEIN 2; RABEP2 RABAPTIN 5-BETA Asterisk 611870 CENTLEIN; CNTLN CHROMOSOME 9 OPEN READING FRAME 39; C9ORF39;; CHROMOSOME 9 OPEN READING FRAME 101; C9ORF101 Asterisk 611871 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER B; FAM82B REGULATOR OF MICROTUBULE DYNAMICS 1; RMD1 Asterisk 611872 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A1; FAM82A1 REGULATOR OF MICROTUBULE DYNAMICS 2; RMD2;; FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A, FORMERLY; FAM82A, FORMERLY Asterisk 611873 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER A2; FAM82A2 REGULATOR OF MICROTUBULE DYNAMICS 3; RMD3;; PROTEIN TYROSINE PHOSPHATASE-INTERACTING PROTEIN 51: PTPIP51 FAMILY WITH SEQUENCE SIMILARITY 82, MEMBER C, FORMERLY; FAM82C, FORMERLY Asterisk 611874 NEURON-DERIVED NEUROTROPHIC FACTOR; NENF NEUDESIN;; CELL IMMORTALIZATION-RELATED PROTEIN 2; CIR2 Number Sign 611875 BRUGADA SYNDROME 3; BRGDA3 Number Sign 611876 BRUGADA SYNDROME 4; BRGDA4 Asterisk 611877 BAI1-ASSOCIATED PROTEIN 2-LIKE 1; BAIAP2L1 INSULIN RECEPTOR TYROSINE KINASE SUBSTRATE; IRTKS Number Sign 611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y LEFT VENTRICULAR NONCOMPACTION 9, INCLUDED; LVNC9, INCLUDED Number Sign 611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z Number Sign 611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE;; CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE Number Sign 611881 GLYCOGEN STORAGE DISEASE XII; GSD12 GSD XII;; ALDOLASE A DEFICIENCY;; ALDOA DEFICIENCY;; ALDOLASE DEFICIENCY, RED CELL;; RED CELL ALDOLASE DEFICIENCY Asterisk 611882 PROLINE-RICH NUCLEAR RECEPTOR COACTIVATOR 2; PNRC2 Asterisk 611883 BRCA2- AND CDKN1A-INTERACTING PROTEIN; BCCIP p21- AND CDK-ASSOCIATED PROTEIN 1; TOK1 Number Sign 611884 CILIARY DYSKINESIA, PRIMARY, 7; CILD7 CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS Asterisk 611885 SHANK-ASSOCIATED RH DOMAIN INTERACTOR; SHARPIN SHANK-INTERACTING PROTEIN-LIKE 1; SIPL1 NULL 611886 MESOMELIC DYSPLASIA, CAMERA TYPE Asterisk 611887 UROPLAKIN 3B; UPK3B UPIIIB;; P35 Asterisk 611888 ETS2 REPRESSOR FACTOR; ERF PE2 Asterisk 611889 S100P-BINDING PROTEIN; S100PBP S100PBPR Number Sign 611890 CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; CAAHD LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE, FORMERLY; LAAHD, FORMERLY Percent 611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 3; AAA3 Percent 611892 ANEURYSM, INTRACRANIAL BERRY, 6; ANIB6 Asterisk 611893 PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G2; PLEKHG2 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 2;; CLG Asterisk 611894 MICRO RNA 140; MIR140 miRNA140;; MIRN140 Number Sign 611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9 Asterisk 611896 RETROTRANSPOSON-LIKE GENE 1; RTL1 PATERNALLY EXPRESSED GENE 11; PEG11 Percent 611897 NANOPHTHALMOS 3; NNO3 NANOPHTHALMIA 3 Asterisk 611898 ENDO-BETA-N-ACETYLGLUCOSAMINIDASE; ENGASE FLJ21865 Asterisk 611899 MICRO RNA 203; MIR203 miRNA203;; MIRN203 Asterisk 611900 METALLOPHOSPHOESTERASE 1; MPPE1 PGAP5 Asterisk 611901 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 1; VWA1 VA DOMAIN-CONTAINING PROTEIN 1;; VON WILLEBRAND FACTOR A DOMAIN-RELATED PROTEIN; WARP Asterisk 611902 COILED-COIL DOMAIN-CONTAINING PROTEIN 136; CCDC136 NAG6;; KIAA1793 Asterisk 611903 ZINC FINGER PROTEIN 649; ZNF649 Asterisk 611904 PLACENTA-EXPRESSED TRANSCRIPT 1, MOUSE, HOMOLOG OF; PLET1 CHROMOSOME 11 OPEN READING FRAME 34; C11ORF34 Asterisk 611905 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 4; FNDC4 FRCP1 Asterisk 611906 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; FNDC5 FRCP2 IRISIN, INCLUDED Percent 611907 EPISODIC ATAXIA, TYPE 7; EA7 Asterisk 611908 RFT1, S. CEREVISIAE, HOMOLOG OF; RFT1 Asterisk 611909 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3B; FNDC3B FACTOR FOR ADIPOCYTE DIFFERENTIATION 104; FAD104 Asterisk 611910 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 12; SLC16A12 MONOCARBOXYLATE TRANSPORTER 12; MCT12 Asterisk 611911 IRON-SULFUR CLUSTER SCAFFOLD, E. COLI, HOMOLOG OF; ISCU Asterisk 611912 NUCLEAR CASEIN KINASE AND CYCLIN-DEPENDENT KINASE SUBSTRATE 1; NUCKS1 NUCKS Number Sign 611913 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB AUTISM, SUSCEPTIBILITY TO, 14A, INCLUDED; AUTS14A, INCLUDED Asterisk 611914 TSC22 DOMAIN FAMILY, MEMBER 4; TSC22D4 TSC22 HOMOLOGOUS GENE 1; THG1;; TSC22-LIKE Asterisk 611915 VESICULAR, OVEREXPRESSED IN CANCER, PROSURVIVAL PROTEIN 1; VOPP1 EGFR-COAMPLIFIED AND OVEREXPRESSED PROTEIN; ECOP;; GLIOBLASTOMA-AMPLIFIED SECRETED PROTEIN; GASP Asterisk 611916 COLLAGEN, TYPE VI, ALPHA-5; COL6A5 COLLAGEN, TYPE XXIX, ALPHA-1; COL29A1 Asterisk 611917 LYSINE-SPECIFIC DEMETHYLASE 8; KDM8 LYSINE DEMETHYLASE 8;; JUMONJI DOMAIN-CONTAINING PROTEIN 5; JMJD5 Caret 611918 MOVED TO 601869 Asterisk 611919 RIBOSOMAL OXYGENASE 1; RIOX1 MYC-ASSOCIATED PROTEIN WITH JMJC DOMAIN; MAPJD;; NUCLEOLAR PROTEIN, 66-KD; NO66;; CHROMOSOME 14 OPEN READING FRAME 169; C14ORF169 Percent 611920 C-REACTIVE PROTEIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; CRPQTL1 Asterisk 611921 GAP JUNCTION PROTEIN, BETA-7; GJB7 CONNEXIN 25; CX25 Asterisk 611922 GAP JUNCTION PROTEIN, DELTA-4; GJD4 CONNEXIN 40.1; CX40.1 Asterisk 611923 GAP JUNCTION PROTEIN, ALPHA-9; GJA9 CONNEXIN 59; CX59 Asterisk 611924 GAP JUNCTION PROTEIN, ALPHA-10; GJA10 CONNEXIN 62; CX62 Asterisk 611925 GAP JUNCTION PROTEIN, GAMMA-3; GJC3 CONNEXIN 30.2; CX30.2;; CONNEXIN 31.3; CX31.3;; CONNEXIN 29; CX29;; GAP JUNCTION PROTEIN, EPSILON-1, FORMERLY; GJE1, FORMERLY Percent 611926 IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS Asterisk 611927 FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER H; FAM83H Number Sign 611928 PROSTATE CANCER, HEREDITARY, 13; HPC13 Percent 611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III Asterisk 611930 INTERFERON-STIMULATED EXONUCLEASE GENE 20-KD-LIKE 2; ISG20L2 Asterisk 611931 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1L; PPM1L PROTEIN PHOSPHATASE 1-LIKE;; PPM1-LIKE;; PROTEIN PHOSPHATASE 2C, EPSILON ISOFORM; PP2CE;; PP2C-EPSILON Asterisk 611932 CDGSH IRON SULFUR DOMAIN PROTEIN 1; CISD1 MITOCHONDRIAL ASN-GLU-GLU-THR (NEET); MITONEET Asterisk 611933 CDGSH IRON SULFUR DOMAIN PROTEIN 3; CISD3 MITONEET-RELATED 2; MINER2 Percent 611934 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 10 Asterisk 611935 MMADHC GENE; MMADHC CHROMOSOME 2 OPEN READING FRAME 25; C2ORF25 Number Sign 611936 CHROMOSOME 3q29 DUPLICATION SYNDROME MICRODUPLICATION 3q29 SYNDROME Asterisk 611937 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY GENE 3-3; IGHD3-3 IGHD33;; DXP4 Number Sign 611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2 VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP Asterisk 611939 IMMUNOGLOBULIN HEAVY CHAIN VARIABLE GENE 3-23; IGHV3-23 IGHV323;; V3-23;; VH26;; DP47 Asterisk 611940 MEMBRANE-BOUND O-ACETYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 4; MBOAT4 GHRELIN O-ACETYLTRANSFERASE; GOAT Asterisk 611941 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2; ATAD2 AAA NUCLEAR COREGULATOR, CANCER-ASSOCIATED; ANCCA Number Sign 611942 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6, INCLUDED; EIG6, INCLUDED Number Sign 611943 RIDDLE SYNDROME RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES Percent 611944 LYMPHATIC MALFORMATION 2; LMPHM2 LYMPHEDEMA, HEREDITARY, IB, FORMERLY; LMPH1B, FORMERLY Percent 611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37 Asterisk 611946 UBX DOMAIN PROTEIN 6; UBXN6 UBX DOMAIN-CONTAINING GENE 1; UBXD1 Asterisk 611947 NLR FAMILY MEMBER X1; NLRX1 NOD9;; CLR11.3 Caret 611948 MOVED TO 267750 Asterisk 611949 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; MBOAT2 MEMBRANE-BOUND O-ACYLTRANSFERASE 2;; LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 4; LPCAT4 Asterisk 611950 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 3; LPCAT3 MEMBRANE-BOUND O-ACYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 5; MBOAT5;; MEMBRANE-BOUND O-ACYLTRANSFERASE 5;; NESSY, DROSOPHILA, HOMOLOG OF Asterisk 611951 B9 DOMAIN-CONTAINING PROTEIN 2; B9D2 STUMPY, MOUSE, HOMOLOG OF;; MKS1-RELATED PROTEIN 2; MKSR2 Asterisk 611952 VACUOLAR PROTEIN SORTING 28, YEAST, HOMOLOG OF; VPS28 Number Sign 611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11 Asterisk 611954 MICRO RNA 373; MIR373 miRNA373;; MIRN373 Percent 611955 PROSTATE CANCER, HEREDITARY, 11; HPC11 Asterisk 611956 CHROMOSOME 3 OPEN READING FRAME 52; C3ORF52 TPA-INDUCED TRANSMEMBRANE PROTEIN; TTMP Asterisk 611957 MICRO RNA 378; MIRN378 miRNA378;; MIR378 Percent 611958 PROSTATE CANCER, HEREDITARY, 14; HPC14 Percent 611959 PROSTATE CANCER, HEREDITARY, 15; HPC15 Number Sign 611960 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7 NULL 611961 STEVENSON-CAREY SYNDROME Percent 611962 HUNTER-MACDONALD SYNDROME Asterisk 611963 ACYL-CoA THIOESTERASE 7-LIKE LOC344967 Asterisk 611964 CYTOCHROME b5, TYPE B (OUTER MITOCHONDRIAL MEMBRANE); CYB5B OUTER MITOCHONDRIAL MEMBRANE CYTOCHROME b5; OMB5;; CYPB5M;; CYTB5, TYPE 2 Asterisk 611965 THO COMPLEX, SUBUNIT 7; THOC7 NIF3L1-BINDING PROTEIN 1; NIF3L1BP1;; FSAP24 Asterisk 611966 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 9; TRAPPC9 NIK- AND IKBKB-BINDING PROTEIN; NIBP;; KIAA1882 Asterisk 611967 KELCH-LIKE 8; KLHL8 KIAA1378 Asterisk 611968 CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD, TAU VARIANT; CSTF2T CSTF2, TAU VARIANT;; CSTF64, TAU VARIANT;; TAU-CSTF64;; KIAA0689 Asterisk 611969 HCCA2 GENE; HCCA2 Asterisk 611970 NUCLEOLAR PROTEIN INTERACTING WITH THE FHA DOMAIN OF MKI67; NIFK MKI67-INTERACTING NUCLEOLAR PHOSPHOPROTEIN; MKI67IP;; NOPP34 Asterisk 611971 MITOCHONDRIAL RIBOSOMAL PROTEIN S2; MRPS2 Asterisk 611972 MITOCHONDRIAL RIBOSOMAL PROTEIN S5; MRPS5 Asterisk 611973 MITOCHONDRIAL RIBOSOMAL PROTEIN S6; MRPS6 Asterisk 611974 MITOCHONDRIAL RIBOSOMAL PROTEIN S7; MRPS7 Asterisk 611975 MITOCHONDRIAL RIBOSOMAL PROTEIN S9; MRPS9 Asterisk 611976 MITOCHONDRIAL RIBOSOMAL PROTEIN S10; MRPS10 Asterisk 611977 MITOCHONDRIAL RIBOSOMAL PROTEIN S11; MRPS11 Asterisk 611978 MITOCHONDRIAL RIBOSOMAL PROTEIN S14; MRPS14 Asterisk 611979 MITOCHONDRIAL RIBOSOMAL PROTEIN S15; MRPS15 Asterisk 611980 MITOCHONDRIAL RIBOSOMAL PROTEIN S17; MRPS17 Asterisk 611981 MITOCHONDRIAL RIBOSOMAL PROTEIN S18A; MRPS18A MRPS18-3 Asterisk 611982 MITOCHONDRIAL RIBOSOMAL PROTEIN S18B; MRPS18B MRPS18-2 Asterisk 611983 MITOCHONDRIAL RIBOSOMAL PROTEIN S18C; MRPS18C MRPS18-1 Asterisk 611984 MITOCHONDRIAL RIBOSOMAL PROTEIN S21; MRPS21 Asterisk 611985 MITOCHONDRIAL RIBOSOMAL PROTEIN S23; MRPS23 Asterisk 611986 MITOCHONDRIAL RIBOSOMAL PROTEIN S24; MRPS24 Asterisk 611987 MITOCHONDRIAL RIBOSOMAL PROTEIN S25; MRPS25 Asterisk 611988 MITOCHONDRIAL RIBOSOMAL PROTEIN S26; MRPS26 MRPS13 Asterisk 611989 MITOCHONDRIAL RIBOSOMAL PROTEIN S27; MRPS27 KIAA0264 Asterisk 611990 MITOCHONDRIAL RIBOSOMAL PROTEIN S28; MRPS28 MRPS35 Asterisk 611991 MITOCHONDRIAL RIBOSOMAL PROTEIN S30; MRPS30 Asterisk 611992 MITOCHONDRIAL RIBOSOMAL PROTEIN S31; MRPS31 IMOGEN 38 Asterisk 611993 MITOCHONDRIAL RIBOSOMAL PROTEIN S33; MRPS33 Asterisk 611994 MITOCHONDRIAL RIBOSOMAL PROTEIN S34; MRPS34 MRPS12 Asterisk 611995 MITOCHONDRIAL RIBOSOMAL PROTEIN S35; MRPS35 MRPS28 Asterisk 611996 MITOCHONDRIAL RIBOSOMAL PROTEIN S36; MRPS36 Asterisk 611997 MITOCHONDRIAL RIBOSOMAL PROTEIN 63; MRP63 Asterisk 611998 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 3; CREB3L3 CREBH Asterisk 611999 RAB11 FAMILY-INTERACTING PROTEIN 4; RAB11FIP4 KIAA1821 Asterisk 612000 TRIPARTITE MOTIF-CONTAINING PROTEIN 66; TRIM66 TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-DELTA; TIF1D;; TIF1-DELTA;; KIAA0298 Number Sign 612001 CHROMOSOME 15q13.3 DELETION SYNDROME CHROMOSOME 15q13.3 MICRODELETION SYNDROME Asterisk 612002 DEP DOMAIN-CONTAINING PROTEIN 1; DEPDC1 FLJ20354 Asterisk 612003 GRB10-INTERACTING GYF PROTEIN 2; GIGYF2 KIAA0642 Number Sign 612004 THROMBOCYTOPENIA 4; THC4 THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4 Percent 612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 7 Percent 612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 8 Percent 612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 9 Percent 612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 10 Percent 612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 11 Percent 612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 12 Percent 612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13 GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 13 Asterisk 612012 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; ZFYVE26 KIAA0321;; SPASTIZIN;; SPG15 GENE; SPG15 Asterisk 612013 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A KIAA1345 Asterisk 612014 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B; TTC21B TETRATRICOPEPTIDE REPEAT-CONTAINING HEDGEHOG MODULATOR 1; THM1 Number Sign 612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N CDG In; CDGIn Number Sign 612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9 Percent 612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3 Number Sign 612018 CATARACT 47; CTRCT47 CATARACT, JUVENILE, WITH MICROCORNEA;; CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, FORMERLY; CJMG, FORMERLY Asterisk 612019 INTESTINE-SPECIFIC HOMEOBOX; ISX RAX-LIKE HOMEOBOX; RAXLX Number Sign 612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39 NTE-RELATED MOTOR NEURON DISORDER; NTEMND Asterisk 612021 OTU DOMAIN-CONTAINING PROTEIN 6B; OTUD6B DUBA5 Asterisk 612022 OTU DOMAIN-CONTAINING PROTEIN 1; OTUD1 DUBA7 Asterisk 612023 YOD1 OTU DEUBIQUITINATING ENZYME 1, S. CEREVISIAE, HOMOLOG OF; YOD1 OTU DOMAIN-CONTAINING PROTEIN 2; OTUD2;; DUBA8 Asterisk 612024 OTU DOMAIN-CONTAINING PROTEIN 7A; OTUD7A OTUD7;; CHROMOSOME 16 OPEN READING FRAME 15; C16ORF15;; CEZANNE2 Asterisk 612025 IODOTYROSINE DEIODINASE; IYD IODOTYROSINE DEHALOGENASE 1; DEHAL1 Asterisk 612026 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 7; LARP7 PTEFB INTERACTION PROTEIN FOR 7SK STABILITY; PIP7S Asterisk 612027 GRP1-ASSOCIATED SCAFFOLD PROTEIN; GRASP TAMALIN Asterisk 612028 FAT STORAGE-INDUCING TRANSMEMBRANE PROTEIN 1; FITM1 FAT-INDUCING TRANSCRIPT 1; FIT1 Asterisk 612029 FAT STORAGE-INDUCING TRANSMEMBRANE PROTEIN 2; FITM2 FAT-INDUCING TRANSCRIPT 2; FIT2;; CHROMOSOME 20 OPEN READING FRAME 142; C20ORF142 Percent 612030 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9 Asterisk 612031 INHIBIN, BETA E; INHBE ACTIVIN BETA-E, INCLUDED Asterisk 612032 DPY30, C. ELEGANS, HOMOLOG OF: DPY30 Asterisk 612033 PAXIP1-ASSOCIATED GLUTAMATE-RICH PROTEIN 1; PAGR1 PTIP-ASSOCIATED 1 PROTEIN; PA1;; CHROMOSOME 16 OPEN READING FRAME 53; C16ORF53 Asterisk 612034 APC2 GENE; APC2 APC-LIKE; APCL Asterisk 612035 ALANYL-tRNA SYNTHETASE 2; AARS2 ALANYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-ALARS;; KIAA1270 Asterisk 612036 PROLYL-tRNA SYNTHETASE 2; PARS2 PROLYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MT-PRORS Asterisk 612037 MITOCHONDRIAL UBIQUITIN LIGASE ACTIVATOR OF NFKB 1; MUL1 MULAN;; CHROMOSOME 1 OPEN READING FRAME 166; C1ORF166 Asterisk 612038 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 4; TMED4 TRANSMEMBRANE EMP24 PROTEIN TRANSPORT DOMAIN-CONTAINING PROTEIN 4 Asterisk 612039 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 7; AGPAT7 ACYLTRANSFERASE-LIKE 3; AYTL3 Asterisk 612040 LYSOPHOSPHATIDYLCHOLINE ACYLTRANSFERASE 2; LPCAT2 ACYLTRANSFERASE-LIKE 1; AYTL1 Asterisk 612041 RING FINGER PROTEIN 212; RNF212 ZHP3, C. ELEGANS, HOMOLOG OF; ZHP3;; ZIP3-RELATED PROTEIN Number Sign 612042 RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1 Asterisk 612043 MICRO RNA 371A; MIR371A miRNA371A;; miRNA371;; MIRN371 Asterisk 612044 MICRO RNA 372; MIRN372 miRNA372;; MIR372 Asterisk 612045 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 3; C1QTNF3 CTRP3;; COLLAGENOUS REPEAT-CONTAINING SEQUENCE, 26-KD PROTEIN; CORS26 Asterisk 612046 E2F TRANSCRIPTION FACTOR 7; E2F7 Asterisk 612047 E2F TRANSCRIPTION FACTOR 8; E2F8 Asterisk 612048 TRANSMEMBRANE PROTEIN 43; TMEM43 LUMA Asterisk 612049 MYC-INDUCED NUCLEAR ANTIGEN; MINA MYC-INDUCED NUCLEAR ANTIGEN, 53-KD; MINA53;; MINERAL DUST-INDUCED GENE; MDIG Asterisk 612050 NEDD4 FAMILY-INTERACTING PROTEIN 1; NDFIP1 NEDD4 WW DOMAIN-BINDING PROTEIN 5; N4WBP5 Asterisk 612051 BRAIN-EXPRESSED, ASSOCIATED WITH NEDD4; BEAN Number Sign 612052 SMOKING AS A QUANTITATIVE TRAIT LOCUS 3; SQTL3 NICOTINE DEPENDENCE, SUSCEPTIBILITY TO LUNG CANCER SUSCEPTIBILITY 2, INCLUDED; LNCR2, INCLUDED Asterisk 612053 ZINC FINGER PROTEIN 36-LIKE 2; ZFP36L2 ZFP36-LIKE 2;; EGF RESPONSE FACTOR 2; ERF2;; TIS11D, MOUSE, HOMOLOG OF; TIS11D Asterisk 612054 REQUIRED FOR CELL DIFFERENTIATION 1, S. POMBE, HOMOLOG OF; RQCD1 RCD1;; CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 9; CNOT9 Asterisk 612055 RIBOSOMAL PROTEIN S27-LIKE; RPS27L RPS27-LIKE Asterisk 612056 GOLGI TO ER TRAFFIC PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; GET4 CHROMOSOME 7 OPEN READING FRAME 20; C7ORF20;; CONSERVED EDGE-EXPRESSED PROTEIN; CEE;; TRANSMEMBRANE DOMAIN RECOGNITION COMPLEX, 35-KD;; TRC35 Asterisk 612057 SUPPRESSOR APC DOMAIN-CONTAINING PROTEIN 2; SAPCD2 CHROMOSOME 9 OPEN READING FRAME 140; C9ORF140;; p42.3 Asterisk 612058 SORTING AND ASSEMBLY MACHINERY COMPONENT 50, S. CEREVISIAE, HOMOLOG OF; SAMM50 SAM50 Asterisk 612059 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 1; LARP1 La-RELATED PROTEIN; LARP;; KIAA0731 Asterisk 612060 ZINC FINGER AND RING FINGER PROTEIN 1; ZNRF1 NERVE INJURY GENE 283; NIN283 Asterisk 612061 ZINC FINGER AND RING FINGER PROTEIN 2; ZNRF2 Asterisk 612062 ZINC FINGER AND RING FINGER PROTEIN 3; ZNRF3 KIAA1133 Asterisk 612063 ZINC FINGER AND RING FINGER PROTEIN 4; ZNRF4 SPERMATID-SPECIFIC RING ZINC FINGER PROTEIN; SPERIZIN Asterisk 612064 GRB10-INTERACTING GYF PROTEIN 1; GIGYF1 Asterisk 612065 POLY(ADP-RIBOSE) POLYMERASE 9; PARP9 B-AGGRESSIVE LYMPHOMA 1; BAL1;; BAL Asterisk 612066 POLY(ADP-RIBOSE) POLYMERASE 15; PARP15 B-AGGRESSIVE LYMPHOMA 3; BAL3 Number Sign 612067 DYSTONIA 16; DYT16 Asterisk 612068 PHOSPHOINOSITIDE-INTERACTING REGULATOR OF TRANSIENT RECEPTOR POTENTIAL CHANNELS; PIRT PHOSPHOINOSITIDE-INTERACTING REGULATOR OF TRP Number Sign 612069 AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;; FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, INCLUDED;; FTLD-TDP, TARDBP-RELATED, INCLUDED Asterisk 612070 MICRO RNA 144; MIRN144 miRNA144;; MIR144 Asterisk 612071 MICRO RNA 451; MIRN451 miRNA451;; MIR451 Asterisk 612072 MIF4G DOMAIN-CONTAINING PROTEIN; MIF4GD SLBP-INTERACTING PROTEIN 1; SLIP1 Number Sign 612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA); MTDPS5 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED Asterisk 612074 RNA-BINDING MOTIF PROTEIN 28; RBM28 Number Sign 612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDPS8B, INCLUDED;; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED, INCLUDED;; MNGIE, RRM2B-RELATED, INCLUDED Number Sign 612076 HYPOURICEMIA, RENAL, 2; RHUC2 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2, INCLUDED; UAQTL2, INCLUDED;; GOUT SUSCEPTIBILITY 2, INCLUDED; GOUT2, INCLUDED Asterisk 612077 MICRO RNA 22; MIR22 miRNA22;; MIRN22 Asterisk 612078 ZINC FINGER PROTEIN 469; ZNF469 KIAA1858 Number Sign 612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES ANE SYNDROME Asterisk 612080 UBIQUINOL-CYTOCHROME c REDUCTASE, COMPLEX III SUBUNIT VII, 9.5-KD; UQCRQ QPC Asterisk 612081 INTERLEUKIN 34; IL34 CHROMOSOME 16 OPEN READING FRAME 77; C16ORF77 Asterisk 612082 CAPICUA, DROSOPHILA, HOMOLOG OF; CIC KIAA0306 Percent 612083 MUSCLE STRENGTH QUANTITATIVE TRAIT LOCUS 1 MUSTQTL1 Asterisk 612084 ORGANIC SOLUTE TRANSPORTER, ALPHA OST-ALPHA; OSTA Asterisk 612085 ORGANIC SOLUTE TRANSPORTER, BETA OST-BETA; OSTB Asterisk 612086 MINOR HISTOCOMPATIBILITY ANTIGEN, SERPIN DOMAIN-CONTAINING; HMSD Asterisk 612087 C-TYPE LECTIN DOMAIN FAMILY 2, MEMBER A; CLEC2A PROLIFERATION-INDUCED LYMPHOCYTE-ASSOCIATED RECEPTOR; PILAR Asterisk 612088 C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER A; CLEC12A MYELOID INHIBITORY C-TYPE LECTIN-LIKE RECEPTOR; MICL Percent 612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM Asterisk 612090 MICRO RNA 200A; MIR200A miRNA200A;; MIRN200A Asterisk 612091 MICRO RNA 200B; MIRN200B miRNA200B;; MIR200B Asterisk 612092 MICRO RNA 200C; MIR200C miRNA200C;; MIRN200C Asterisk 612093 MICRO RNA 141; MIR141 miRNA141;; MIRN141 Asterisk 612094 MICRO RNA 429; MIRN429 miRNA429;; MIR429 Number Sign 612095 RETINITIS PIGMENTOSA 41; RP41 RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED Percent 612096 OTOSCLEROSIS 8; OTSC8 Percent 612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS Number Sign 612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11 Percent 612099 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2 MFT2 Number Sign 612100 AUTISM, SUSCEPTIBILITY TO, 15; AUTS15 Asterisk 612101 PHOSPHATIDYLINOSITOL 4-KINASE, TYPE 2, BETA; PI4K2B PHOSPHATIDYLINOSITOL 4-KINASE, TYPE II, BETA;; PI4KII-BETA Asterisk 612102 MICRO RNA LET7G; MIRNLET7G LET7, C. ELEGANS, HOMOLOG OF, G; LET7G;; miRNA LET7G;; MIRLET7G Asterisk 612103 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 2A; OBFC2A SINGLE-STRANDED DNA-BINDING PROTEIN 2; SSB2 Asterisk 612104 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 2B; OBFC2B SINGLE-STRANDED DNA-BINDING PROTEIN 1; SSB1 Asterisk 612105 KILLIN; KLLN Asterisk 612106 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 40; ZBTB40 KIAA0478 Asterisk 612107 SOLUTE CARRIER FAMILY 17 (VESICULAR NUCLEOTIDE TRANSPORTER), MEMBER 9; SLC17A9 CHROMOSOME 20 OPEN READING FRAME 59; C20ORF59 Percent 612108 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1 Number Sign 612109 OCULOAURICULAR SYNDROME; OCACS MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR;; SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME Percent 612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9 Asterisk 612111 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8; TNFAIP8 SCC-S2;; OXI-ALPHA Asterisk 612112 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 2; TNFAIP8L2 TNFAIP8-LIKE 2; TIPE2 Percent 612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10 Percent 612114 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11 Asterisk 612115 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARHGEF3 XPLN Asterisk 612116 UBIQUITIN-SPECIFIC PROTEASE 22; USP22 KIAA1063 Asterisk 612117 MICRO RNA 143; MIR143 miRNA143;; MIRN143 Asterisk 612118 IQ MOTIF- AND SEC7 DOMAIN-CONTAINING PROTEIN 3; IQSEC3 KIAA1110 Number Sign 612119 TREHALASE DEFICIENCY TREHALOSE INTOLERANCE Asterisk 612120 CELL DEATH-INDUCING DFFA-LIKE EFFECTOR C; CIDEC CELL DEATH ACTIVATOR CIDE3;; FAT-SPECIFIC PROTEIN 27; FSP27 Asterisk 612121 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 1; PNPLA1 Asterisk 612122 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 7; PNPLA7 NTE-LIKE 1; NTEL1 Asterisk 612123 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 8; PNPLA8 PNPLA-GAMMA;; PHOSPHOLIPASE A2, CALCIUM-INDEPENDENT, INTRACELLULAR MEMBRANE-ASSOCIATED, GAMMA; IPLA2-GAMMA;; IPLA2-2 Number Sign 612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12 Asterisk 612125 SERTA DOMAIN-CONTAINING PROTEIN 3; SERTAD3 RPA-BINDING TRANSACTIVATOR 1; RBT1 Number Sign 612126 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;; PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;; PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;; DYSTONIA 18; DYT18 Asterisk 612127 17-BETA-HYDROXYSTEROID DEHYDROGENASE XIII; HSD17B13 SHORT-CHAIN DEHYDROGENASE/REDUCTASE 9; SCDR9 Asterisk 612128 RAS-LIKE, FAMILY 10, MEMBER B; RASL10B RAS-RELATED PROTEIN 17; RRP17 Asterisk 612129 INDOLEAMINE 2,3-DIOXYGENASE 2; IDO2 INDOLEAMINE 2,3-DIOXYGENASE-LIKE 1; INDOL1;; INDOLEAMINE-PYRROLE 2,3-DIOXYGENASE-LIKE 1 Asterisk 612130 GENE AMPLIFIED IN ESOPHAGEAL CANCER 1; GAEC1 Asterisk 612131 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 9; DHRS9 SDR FAMILY, MEMBER 9;; RETINOL DEHYDROGENASE, TRACHEOBRONCHIAL EPITHELIAL CELL-SPECIFIC; RDHTBE;; 3-ALPHA-HYDROXYSTEROID DEHYDROGENASE;; 3-ALPHA-HSD;; RDHL Number Sign 612132 ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2; EDAID2 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY 2;; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNODEFICIENCY 2;; ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT Asterisk 612133 TRANSCRIPTION FACTOR NFE4; NFE4 ERYTHROID-SPECIFIC FACTOR p22-NFE4;; GAMMA-GLOBIN GENE ACTIVATOR;; FETAL GLOBIN ACTIVATOR NFE4 p14-NFE4, INCLUDED Asterisk 612134 GLUCURONIC ACID EPIMERASE; GLCE D-GLUCURONYL C5-EPIMERASE;; C5-EPIMERASE;; HEPARIN/HEPARAN SULFATE GLUCURONIC ACID C5-EPIMERASE;; HEPARAN SULFATE D-GLUCURONYL C5-EPIMERASE; HSEPI;; KIAA0836 Asterisk 612135 CALCIUM-BINDING TYROSINE PHOSPHORYLATION-REGULATED PROTEIN; CABYR FIBROUSHEATHIN 2; FSP2 Asterisk 612136 ENOYL COENZYME A HYDRATASE DOMAIN-CONTAINING PROTEIN 1; ECHDC1 Asterisk 612137 RING FINGER PROTEIN 146; RNF146 DACTYLIDIN;; IDUNA Number Sign 612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA EBS WITH PYLORIC ATRESIA Asterisk 612139 PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 2; PREX2 DEP DOMAIN-CONTAINING PROTEIN 2; DEPDC2 Asterisk 612140 SEPTIN 14; SEPT14 SEPT14/EGFR FUSION GENE, INCLUDED Asterisk 612141 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1-LIKE 4A; EPB41L4A EPB41L4;; NBL4 Asterisk 612142 MICRO RNA LET7A2; MIRLET7A2 LET7, C. ELEGANS, HOMOLOG OF, A2; LET7A2;; miRNA LET7A2;; MIRNLET7A2 Asterisk 612143 MICRO RNA LET7A3; MIRNLET7A3 LET7, C. ELEGANS, HOMOLOG OF, A3; LET7A3;; miRNA LET7A3;; MIRLET7A3 Asterisk 612144 MICRO RNA LET7C; MIRLET7C LET7, C. ELEGANS, HOMOLOG OF, C; LET7C;; miRNA LET7C;; MIRNLET7C Asterisk 612145 MICRO RNA LET7D; MIRNLET7D LET7, C. ELEGANS, HOMOLOG OF, D; LET7D;; miRNA LET7D;; MIRLET7D Asterisk 612146 MICRO RNA LET7F1; MIRLET7F1 LET7, C. ELEGANS, HOMOLOG OF, F1; LET7F1;; miRNA LET7F1;; MIRNLET7F1 Asterisk 612147 MYOSIN LIGHT CHAIN KINASE 3; MYLK3 MLCK, CARDIAC Asterisk 612148 MICRO RNA LET7I; MIRNLET7I LET7, C. ELEGANS, HOMOLOG OF, I; LET7I;; miRNA LET7I;; MIRLET7I Asterisk 612149 RNA-BINDING PROTEIN FOX1, C. ELEGANS, HOMOLOG OF, 2; RBFOX2 FOX1, C. ELEGANS, HOMOLOG OF, 2; FOX2;; RNA-BINDING MOTIF PROTEIN 9; RBM9;; REPRESSOR OF TAMOXIFEN TRANSCRIPTIONAL ACTIVITY; RTA Asterisk 612150 MICRO RNA 25; MIR25 miRNA25;; MIRN25 Asterisk 612151 MICRO RNA 26A1; MIR26A1 miRNA26A1;; MIRN26A1;; MIR26A Asterisk 612152 MICRO RNA 26B; MIR26B miRNA26B;; MIRN26B Asterisk 612153 MICRO RNA 27A; MIR27A miRNA27A;; MIRN27A;; MIR27 Asterisk 612154 MICRO RNA 28; MIR28 miRNA28;; MIRN28 Asterisk 612155 MICRO RNA 31; MIR31 miRNA31;; MIRN31 Asterisk 612156 MICRO RNA 33A; MIR33A MIRN33A;; miRNA33A;; MIR33 Asterisk 612157 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 1; SENP1 SENP1/MESDC2 FUSION GENE, INCLUDED Number Sign 612158 CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION, INCLUDED; CMH23, INCLUDED Asterisk 612159 RABPHILIN 3A; RPH3A KIAA0985 Number Sign 612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS Percent 612161 ANEURYSM, INTRACRANIAL BERRY, 7; ANIB7 Percent 612162 ANEURYSM, INTRACRANIAL BERRY, 8; ANIB8 Asterisk 612163 TWO-PORE SEGMENT CHANNEL 2; TPCN2 TWO-PORE CHANNEL 2; TPC2 Number Sign 612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 Percent 612165 RETINITIS PIGMENTOSA 29; RP29 Asterisk 612166 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 2; SLC39A2 ZRT- AND IRT-LIKE PROTEIN 2; ZIP2 Asterisk 612167 WD REPEAT-CONTAINING PROTEIN 48; WDR48 p80;; KIAA1449;; USP1-ASSOCIATED FACTOR 1; UAF1 Asterisk 612168 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 3; SLC39A3 ZRT- AND IRT-LIKE PROTEIN 3; ZIP3 Asterisk 612169 Fc FRAGMENT OF IgG, LOW AFFINITY IIc, RECEPTOR FOR; FCGR2C Fc-GAMMA-RIIC;; FcRIIC;; CD32C Asterisk 612170 MUCIN 19, OLIGOMERIC; MUC19 Asterisk 612171 REPRIMO; RPRM Asterisk 612172 DEAD BOX POLYPEPTIDE 23; DDX23 PRP28, S. CEREVISIAE, HOMOLOG OF; PRP28;; U5 snRNP-SPECIFIC PROTEIN, 100-KD;; U5-100KD Asterisk 612173 SPERM-ASSOCIATED ANTIGEN 16; SPAG16 PF20 Asterisk 612174 CALCIUM-BINDING PROTEIN 39; CAB39 MO25-ALPHA Asterisk 612175 CALCIUM-BINDING PROTEIN 39-LIKE PROTEIN; CAB39L CAB39-LIKE PROTEIN;; MO25-BETA Asterisk 612176 MYB-LIKE, SWIRM, AND MPN DOMAINS-CONTAINING PROTEIN 1; MYSM1 HISTONE H2A DEUBIQUITINASE; 2ADUB;; KIAA1915 Asterisk 612177 RNA, 7SL, CYTOPLASMIC 1; RN7SL1 7SL;; 7L1A Asterisk 612178 HEN1 METHYLTRANSFERASE, ARABIDOPSIS, HOMOLOG OF; HENMT1 HEN1;; CHROMOSOME 1 OPEN READING FRAME 59; C1ORF59 Asterisk 612179 RNA, 7SL, CYTOPLASMIC 2; RN7SL2 7L1C;; 7L30.1 Asterisk 612180 RNA, 7SL, CYTOPLASMIC 3; RN7SL3 7L30.2 Asterisk 612181 MUCIN 13, CELL SURFACE-ASSOCIATED; MUC13 Asterisk 612182 N-ACETYLTRANSFERASE 2; NAT2 ARYLAMIDE ACETYLASE 2; AAC2 Asterisk 612183 G PROTEIN-COUPLED RECEPTOR 176; GPR176 Asterisk 612184 CASK-INTERACTING PROTEIN 1; CASKIN1 KIAA1306 Asterisk 612185 CASK-INTERACTING PROTEIN 2; CASKIN2 KIAA1139 Asterisk 612186 DMX-LIKE 2; DMXL2 RABCONNECTIN 3; RC3;; KIAA0856 Asterisk 612187 HEME-RESPONSIVE GENE 1 HRG1 Asterisk 612188 VACUOLAR PROTEIN SORTING 39, YEAST, HOMOLOG OF; VPS39 VAM6, YEAST, HOMOLOG OF; VAM6;; TRAP1-LIKE PROTEIN; TLP;; KIAA0770 Asterisk 612189 PHENAZINE BIOSYNTHESIS-LIKE PROTEIN DOMAIN-CONTAINING PROTEIN; PBLD MAWD-BINDING PROTEIN; MAWBP;; MAWDBP Asterisk 612190 MTOR-ASSOCIATED PROTEIN LST8; MLST8 G-BETA-LIKE PROTEIN; GBL;; G PROTEIN BETA SUBUNIT-LIKE PROTEIN;; LST8, S. CEREVISIAE, HOMOLOG OF; LST8;; WAT1, S. POMBE, HOMOLOG OF; WAT1;; POP3, S. POMBE, HOMOLOG OF; POP3 Asterisk 612191 MICROSEMINOPROTEIN, PROSTATE-ASSOCIATED; MSMP PC3 PROSTATE CANCER CELL-SECRETED MICROPROTEIN; PSMP Asterisk 612192 ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF; ZFP57 Asterisk 612193 CARDIOMYOPATHY-ASSOCIATED PROTEIN 5; CMYA5 MYOSPRYN;; TRIPARTITE MOTIF-CONTAINING PROTEIN 76; TRIM76 Asterisk 612194 RAS-RELATED GTP-BINDING PROTEIN A; RRAGA RAGA;; FIP1 Asterisk 612195 ABHYDROLASE DOMAIN-CONTAINING 1; ABHD1 LUNG ALPHA/BETA HYDROLASE 1; LABH1 Asterisk 612196 ABHYDROLASE DOMAIN-CONTAINING 2; ABHD2 LUNG ALPHA/BETA HYDROLASE 2; LABH2 Asterisk 612197 ABHYDROLASE DOMAIN-CONTAINING 3; ABHD3 LUNG ALPHA/BETA HYDROLASE 3; LABH3 Percent 612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA Number Sign 612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1; CRMCC1 CRMCC;; COATS PLUS SYNDROME Asterisk 612200 CHROMOSOME 3 OPEN READING FRAME 58; C3ORF58 DELETED IN AUTISM 1; DIA1 Number Sign 612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6 Asterisk 612202 SRY-BOX 7; SOX7 Asterisk 612203 NUCLEOSOME ASSEMBLY PROTEIN 1-LIKE 5; NAP1L5 DOWNREGULATED IN LIVER MALIGNANCY; DRLM Asterisk 612204 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, A; ATG9A APG9-LIKE 1; APG9L1 Asterisk 612205 AUTOPHAGY 9, S. CEREVISIAE, HOMOLOG OF, B; ATG9B ENDOTHELIAL NITRIC OXIDE SYNTHASE 3 ANTISENSE; NOS3AS;; APG9-LIKE 2; APG9L2 SONE, INCLUDED Asterisk 612206 FOUR-JOINTED BOX, DROSOPHILA, HOMOLOG OF, 1; FJX1 Asterisk 612207 GOLGI PHOSPHOPROTEIN 3; GOLPH3 GOLGI-ASSOCIATED PROTEIN, 34-KD; GPP34;; MITOCHONDRIAL DNA ABSENCE-SENSITIVE FACTOR; MIDAS Asterisk 612208 GOLGI PHOSPHOPROTEIN 3-LIKE; GOLPH3L GPP34-RELATED; GPP34R Asterisk 612209 MESOGENIN 1; MSGN1 Asterisk 612210 HIGHLY UPREGULATED IN LIVER CANCER; HULC Asterisk 612211 TUMOR SUPPRESSOR CANDIDATE 5; TUSC5 LOST1 Asterisk 612212 PLASMINOGEN-LIKE A; PLGLA PLASMINOGEN-RELATED GENE A; PRGA Asterisk 612213 SEMINAL PLASMA PROTEIN, BOVINE, HOMOLOG OF, 1; BSPH1 BSP, BOVINE, HOMOLOG OF, 1;; BINDER OF SPERM PROTEIN, BOVINE, HOMOLOG OF, 1;; BOVINE SEMINAL PLASMA PROTEIN-LIKE 1 Asterisk 612214 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 4; RGL4 RALGDS-RELATED, RABBIT, HOMOLOG OF; RGR Asterisk 612215 SMALL NUCLEOLAR RNA HOST GENE 6; SNHG6 U87 HOST GENE; U87HG Asterisk 612216 SMALL NUCLEOLAR RNA, C/D BOX, 87; SNORD87 U87 Asterisk 612217 CHROMOSOME 6 OPEN READING FRAME 106; C6ORF106 Asterisk 612218 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 38; ZBTB38 Number Sign 612219 EWING SARCOMA; ES NEUROEPITHELIOMA, PERIPHERAL, INCLUDED; PNE, INCLUDED;; ASKIN TUMOR, INCLUDED Asterisk 612220 BETA-1,4-N-ACETYLGALACTOSAMINYLTRANSFERASE 3; B4GALNT3 B4GalNAcT3 Percent 612221 STATURE QUANTITATIVE TRAIT LOCUS 10; STQTL10 Asterisk 612222 GALACTOSAMINE-6-SULFATE SULFATASE; GALNS N-ACETYLGALACTOSAMINE-SULFATE SULFATASE Percent 612223 STATURE QUANTITATIVE TRAIT LOCUS 11; STQTL11 Percent 612224 STATURE QUANTITATIVE TRAIT LOCUS 12; STQTL12 Number Sign 612225 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY9 Percent 612226 STATURE QUANTITATIVE TRAIT LOCUS 13; STQTL13 Number Sign 612227 DIABETES MELLITUS, KETOSIS-PRONE; KPD Percent 612228 STATURE QUANTITATIVE TRAIT LOCUS 14; STQTL14 Number Sign 612229 COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 18 Percent 612230 COLORECTAL CANCER, SUSCEPTIBILITY TO, 5; CRCS5 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 10 Percent 612231 COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 8q23 Percent 612232 COLORECTAL CANCER, SUSCEPTIBILITY TO, 7; CRCS7 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 11 Number Sign 612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4 MITOCHONDRIAL HSP60 CHAPERONOPATHY;; MITCHAP60 DISEASE Asterisk 612234 CALCIUM HOMEOSTASIS MODULATOR 1; CALHM1 FAMILY WITH SEQUENCE SIMILARITY 26, MEMBER C; FAM26C Asterisk 612235 CALCIUM HOMEOSTASIS MODULATOR 2; CALHM2 FAMILY WITH SEQUENCE SIMILARITY 26, MEMBER B; FAM26B Asterisk 612236 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 2; ERGIC2 CDA14;; PTX1 Number Sign 612237 CHONDROSARCOMA, EXTRASKELETAL MYXOID EMC Percent 612238 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4; IS4 Percent 612239 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5; IS5 Number Sign 612240 ATRIAL FIBRILLATION, FAMILIAL, 7; ATFB7 Percent 612241 INFLAMMATORY BOWEL DISEASE 12; IBD12 Number Sign 612242 CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME JUVENILE POLYPOSIS OF INFANCY, INCLUDED;; JUVENILE POLYPOSIS, INFANTILE, INCLUDED Asterisk 612243 ADHESION G PROTEIN-COUPLED RECEPTOR G6; ADGRG6 G PROTEIN-COUPLED RECEPTOR 126; GPR126;; VASCULAR-INDUCIBLE G PROTEIN-COUPLED RECEPTOR; VIGR Number Sign 612244 INFLAMMATORY BOWEL DISEASE 13; IBD13 Number Sign 612245 INFLAMMATORY BOWEL DISEASE 14; IBD14 Asterisk 612246 CD302 ANTIGEN; CD302 DEC205-ASSOCIATED C-TYPE LECTIN 1; DCL1;; KIAA0022 Number Sign 612247 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS; CAN CROUZONODERMOSKELETAL SYNDROME Asterisk 612248 ZINC FINGER PROTEIN 627; ZNF627 Asterisk 612249 THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 7A; THSD7A KIAA0960 Asterisk 612250 G PROTEIN-COUPLED RECEPTOR 161: GPR161 Number Sign 612251 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10 Asterisk 612252 C-TYPE LECTIN DOMAIN FAMILY 9, MEMBER A; CLEC9A DENDRITIC CELL NATURAL KILLER LECTIN GROUP RECEPTOR 1; DNGR1 Number Sign 612253 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11 Percent 612254 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12 Percent 612255 INFLAMMATORY BOWEL DISEASE 15; IBD15 Asterisk 612256 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1; MAST1 SYNTROPHIN-ASSOCIATED SERINE/THREONINE KINASE; SAST;; KIAA0973 Asterisk 612257 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 2; MAST2 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE, 205-KD; MAST205;; KIAA0807 Asterisk 612258 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 3; MAST3 KIAA0561 Percent 612259 INFLAMMATORY BOWEL DISEASE 16; IBD16 Number Sign 612260 MYD88 DEFICIENCY; MYD88D PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY;; RECURRENT PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Number Sign 612261 INFLAMMATORY BOWEL DISEASE 17; IBD17 Percent 612262 INFLAMMATORY BOWEL DISEASE 18; IBD18 Percent 612263 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7; CMM7 Asterisk 612264 MANNOSE RECEPTOR, C-TYPE, 2; MRC2 ENDO180;; UROKINASE-TYPE PLASMINOGEN ACTIVATOR RECEPTOR-ASSOCIATED PROTEIN; UPARAP;; UPAR-ASSOCIATED PROTEIN;; CD280;; KIAA0709 Asterisk 612265 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER A; FAM120A OXIDATIVE STRESS-ASSOCIATED SRC ACTIVATOR; OSSA;; CHROMOSOME 9 OPEN READING FRAME 10; C9ORF10;; KIAA0183 Asterisk 612266 FAMILY WITH SEQUENCE SIMILARITY 120, MEMBER B; FAM120B PPARG CONSTITUTIVE COACTIVATOR 1; PGCC1;; CONSTITUTIVE COACTIVATOR OF PPARG; CCPG;; KIAA1838 Number Sign 612267 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10 SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR Asterisk 612268 TUBULIN TYROSINE LIGASE-LIKE FAMILY, MEMBER 5; TTLL5 SRC1- AND TIF2-ASSOCIATED BINDING PROTEIN; STAMP;; KIAA0998 Number Sign 612269 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5 Asterisk 612270 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 4; CDCA4 HEMATOPOIETIC PROGENITOR PROTEIN; HEPP Number Sign 612271 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11; SHEP11 MELANESIAN BLOND HAIR;; SKIN/HAIR/EYE PIGMENTATION 11, BLUE/NONBLUE EYES Caret 612272 MOVED TO 608644 Caret 612273 MOVED TO 611884 Percent 612274 CILIARY DYSKINESIA, PRIMARY, 8; CILD8 CILIARY DYSKINESIA, PRIMARY, 8, WITH OR WITHOUT SITUS INVERSUS Asterisk 612275 GAMETOGENETIN-BINDING PROTEIN 2; GGNBP2 DIOXIN-INDUCIBLE FACTOR 3; DIF3;; LARYNGEAL CARCINOMA RELATED-GENE 1; LCRG1;; LZK1 Asterisk 612276 YRDC DOMAIN-CONTAINING PROTEIN; YRDC YRDC, E. COLI, HOMOLOG OF;; ISCHEMIA/REPERFUSION-INDUCIBLE PROTEIN; IRIP Asterisk 612277 ADAMTS-LIKE PROTEIN 2; ADAMTSL2 KIAA0605 Number Sign 612278 INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 19; IBD19 Percent 612279 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 6; GEFSP6 GEFS+, TYPE 6; GEFS+6 Asterisk 612280 FUCOSIDASE, ALPHA-L, 1; FUCA1 ALPHA-L-FUCOSIDASE 1;; FUCOSIDASE, ALPHA-L, TISSUE; FUCA Number Sign 612281 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6; ARCI6 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED Asterisk 612282 ZINC FINGER PROTEIN 804A; ZNF804A CHROMOSOME 2 OPEN READING FRAME 10; C2ORF10 Asterisk 612283 PROTEIN C; PROC PC Number Sign 612284 MECKEL SYNDROME, TYPE 6; MKS6 Number Sign 612285 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED Number Sign 612286 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1 Number Sign 612287 NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2; NPHLOP2 Percent 612288 INFLAMMATORY BOWEL DISEASE 20; IBD20 Number Sign 612289 FONTAINE PROGEROID SYNDROME; FPS GORLIN-CHAUDHRY-MOSS SYNDROME; GCMS;; PROGEROID SYNDROME, CONGENITAL, PETTY TYPE;; CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE Number Sign 612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, INCLUDED Number Sign 612291 JOUBERT SYNDROME 8; JBTS8 Number Sign 612292 BIRK-BAREL SYNDROME BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME;; MENTAL RETARDATION WITH HYPOTONIA AND FACIAL DYSMORPHISM Percent 612293 POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK5 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 3; DSAP3 Asterisk 612294 DEP DOMAIN-CONTAINING PROTEIN 7; DEPDC7 TR2 Asterisk 612295 ADP RIBOSYLATION FACTOR-LIKE GTPase 14 EFFECTOR PROTEIN; ARL14EP ADP-RIBOSYLATION FACTOR 7 EFFECTOR PROTEIN; ARF7EP;; CHROMOSOME 11 OPEN READING FRAME 46; C11ORF46 Asterisk 612296 LOC283267 GENE LOC283267 Asterisk 612297 CHROMOSOME 11 OPEN READING FRAME 41; C11ORF41 G2 Asterisk 612298 TRIPARTITE MOTIF-CONTAINING PROTEIN 44; TRIM44 MC7 Asterisk 612299 COMM DOMAIN-CONTAINING PROTEIN 9; COMMD9 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 9 Number Sign 612300 HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY; HACD59 CD59 DEFICIENCY Number Sign 612301 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 OSTEOPETROSIS, OSTEOCLAST-POOR, WITH HYPOGAMMAGLOBULINEMIA Asterisk 612302 ADHESION G PROTEIN-COUPLED RECEPTOR A1; ADGRA1 G PROTEIN-COUPLED RECEPTOR 123; GPR123;; KIAA1828 Asterisk 612303 ADHESION G PROTEIN-COUPLED RECEPTOR A3; ADGRA3 G PROTEIN-COUPLED RECEPTOR 125; GPR125 Number Sign 612304 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4 PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE;; PROC DEFICIENCY, AUTOSOMAL RECESSIVE Asterisk 612305 ADHESION G PROTEIN-COUPLED RECEPTOR E4, PSEUDOGENE; ADGRE4P EMR4, MOUSE, HOMOLOG OF; EMR4;; G PROTEIN-COUPLED RECEPTOR 127; GPR127;; FIRE Percent 612306 THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1; TSHQTL1 THYROTROPIN QUANTITATIVE TRAIT LOCUS 1 Asterisk 612307 ADHESION G PROTEIN-COUPLED RECEPTOR G7; ADGRG7 G PROTEIN-COUPLED RECEPTOR 128; GPR128 Asterisk 612308 ZINC FINGER AND BTB DOMAIN-CONTAINING 4; ZBTB4 KIAA1538 Asterisk 612309 COAGULATION FACTOR V; F5 PROTEIN C COFACTOR; PCCF;; ACTIVATED PROTEIN C COFACTOR;; APC COFACTOR;; LABILE FACTOR FACTOR V LEIDEN, INCLUDED Number Sign 612310 PREMATURE OVARIAN FAILURE 6; POF6 Percent 612311 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5 ADHD5;; MOTOR TIMING QUANTITATIVE TRAIT LOCUS Percent 612312 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6 ADHD6;; DIGIT SPAN QUANTITATIVE TRAIT LOCUS Number Sign 612313 GLASS SYNDROME; GLASS CHROMOSOME 2q32-q33 DELETION SYNDROME Asterisk 612314 GLUTATHIONE S-TRANSFERASE, OMEGA-2; GSTO2 Asterisk 612315 KERATIN 6C, TYPE II; KRT6C K6C;; KB12;; KERATIN 6E; KRT6E; K6E;; KERATIN 6H; K6H Asterisk 612316 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3A; ATAD3A Asterisk 612317 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3B; ATAD3B TOB3;; AAA-TOB3;; KIAA1273 Number Sign 612318 PSEUDOFOLLICULITIS BARBAE PFB;; PILI INCARNATI;; INGROWN HAIRS Number Sign 612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35 FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION; FAHN;; LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA Asterisk 612320 CUB DOMAIN-CONTAINING PROTEIN 2; CDCP2 Asterisk 612321 DOUBLECORTIN DOMAIN-CONTAINING PROTEIN 5; DCDC5 KIAA1493 Asterisk 612322 FAST KINASE DOMAINS 2; FASTKD2 FAST KINASE DOMAIN-CONTAINING PROTEIN 2;; KIAA0971 Asterisk 612323 INNER MITOCHONDRIAL MEMBRANE PEPTIDASE, SUBUNIT 1, S. CEREVISIAE, HOMOLOG OF; IMMP1L IMP1, S. CEREVISIAE, HOMOLOG OF; IMP1;; IMP1-LIKE Asterisk 612324 COILED-COIL DOMAIN-CONTAINING PROTEIN 34; CCDC34 NY-REN-41 Asterisk 612325 INTESTINAL CELL KINASE; ICK MAK-RELATED KINASE; MRK;; KIAA0936 Asterisk 612326 TRANSCRIPTION FACTOR 25; TCF25 NUCLEAR LOCALIZED PROTEIN 1; NULP1;; KIAA1049 Asterisk 612327 MANNOSIDASE, ENDO-ALPHA; MANEA ENDO-ALPHA-1,2-MANNOSIDASE;; ENDOMANNOSIDASE;; ENDO Asterisk 612328 COILED-COIL DOMAIN-CONTAINING PROTEIN 73: CCDC73 NY-SAR-79 Asterisk 612329 MICRO RNA 30A; MIR30A miRNA30A;; MIRN30A Asterisk 612330 MICRO RNA 610; MIRN610 miRNA610;; MIR610 Asterisk 612331 LIN7, C. ELEGANS, HOMOLOG OF, B; LIN7B VERTEBRATE LIN7 HOMOLOG 2; VELI2;; MAMMALIAN LIN7 HOMOLOG 2; MALS2 Asterisk 612332 LIN7, C. ELEGANS, HOMOLOG OF, C; LIN7C VERTEBRATE LIN7 HOMOLOG 3; VELI3;; MAMMALIAN LIN7 HOMOLOG 3; MALS3 Asterisk 612333 PROGRAMMED CELL DEATH 11; PDCD11 APOPTOSIS-LINKED GENE 4; ALG4;; NF-KAPPA-B-BINDING PROTEIN; NFBP;; KIAA0185 Asterisk 612334 N-ACYL PHOSPHATIDYLETHANOLAMINE-HYDROLYZING PHOSPHOLIPASE D; NAPEPLD N-ACYL PHOSPHATIDYLETHANOLAMINE PHOSPHOLIPASE D Percent 612335 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT; SPG38 Number Sign 612336 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT; THPH5 Number Sign 612337 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22 CHROMOSOME 1q43-q44 DELETION SYNDROME, INCLUDED;; CHROMOSOME 1qter DELETION SYNDROME, INCLUDED Asterisk 612338 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 1; GGTLC1 GGT, TYPE II-M;; GGTL6;; GGTLA4 Asterisk 612339 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 2; GGTLC2 GGT, TYPE III;; GGTL4 Asterisk 612340 GAMMA-GLUTAMYLTRANSFERASE, LIGHT CHAIN 3; GGTLC3 Asterisk 612341 GAMMA-GLUTAMYLTRANSFERASE 6; GGT6 Asterisk 612342 GAMMA-GLUTAMYLTRANSFERASE 7; GGT7 GGTL3;; GGTL5;; GGT4 Percent 612343 MUSICAL APTITUDE QUANTITATIVE TRAIT LOCUS Asterisk 612344 ZINC FINGER PROTEIN 385B; ZNF385B ZINC FINGER PROTEIN 533; ZNF533 Number Sign 612345 CHROMOSOME 2q31.2 DELETION SYNDROME Asterisk 612346 GAMMA-GLUTAMYLTRANSFERASE 1; GGT1 GGT Number Sign 612347 JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2 Percent 612348 THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR, INCLUDED Asterisk 612349 PHENYLALANINE HYDROXYLASE; PAH Number Sign 612350 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3; EDSSPD3 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE; SCD-EDS Asterisk 612351 FORKHEAD BOX I3; FOXI3 Asterisk 612352 STAM-BINDING PROTEIN-LIKE 1; STAMBPL1 AMSH-LIKE PROTEIN; AMSHLP;; AMSH-FAMILY PROTEIN; AMSHFP;; KIAA1373 Percent 612353 POROKERATOSIS 6, MULTIPLE TYPES; POROK6 POROKERATOSIS 6, DISSEMINATED SUPERFICIAL;; POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4; DSAP4 Percent 612354 INFLAMMATORY BOWEL DISEASE 21; IBD21 Asterisk 612355 MICAL C TERMINUS-LIKE PROTEIN; MICALCL ERK2-BINDING TESTICULAR PROTEIN 1; EBITEIN1 Number Sign 612356 HEPARIN COFACTOR II DEFICIENCY THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY; THPH10;; HCF II DEFICIENCY;; HCF2 DEFICIENCY Percent 612357 MAJOR AFFECTIVE DISORDER 8; MAFD8 BIPOLAR AFFECTIVE DISORDER Asterisk 612358 KININOGEN 1; KNG1 KININOGEN; KNG HIGH MOLECULAR WEIGHT KININOGEN, INCLUDED; HMWK, INCLUDED; HK, INCLUDED;; LOW MOLECULAR WEIGHT KININOGEN, INCLUDED; LMWK, INCLUDED; LK, INCLUDED;; BRADYKININ, INCLUDED; BK, INCLUDED;; FITZGERALD FACTOR, INCLUDED;; FLAUJEAC FACTOR, INCLUDED;; WILLIAMS FACTOR, INCLUDED Caret 612359 MOVED TO 158350 Asterisk 612360 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 5; NDUFAF5 CHROMOSOME 20 OPEN READING FRAME 7; C20ORF7 Percent 612361 SCHIZOPHRENIA 14 SCZD14;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 2q32-RELATED Number Sign 612362 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12 OBESITY, SUSCEPTIBILITY TO Percent 612363 ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 ALTQTL1 Percent 612364 ALANINE AMINOTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 ALTQTL2 Percent 612365 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 GGTQTL1 Percent 612366 GAMMA GLUTAMYLTRANSFERASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 GGTQTL2 Percent 612367 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 ALPQTL2 Percent 612368 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 ALPQTL3 Percent 612369 ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 4 ALPQTL4 Number Sign 612370 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5 Number Sign 612371 MAJOR AFFECTIVE DISORDER 7; MAFD7 BIPOLAR AFFECTIVE DISORDER Percent 612372 MAJOR AFFECTIVE DISORDER 9; MAFD9 BIPOLAR AFFECTIVE DISORDER Asterisk 612373 SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 3: SLC29A3 EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 3; ENT3 Asterisk 612374 TRANSMEMBRANE PROTEIN 173; TMEM173 STIMULATOR OF INTERFERON GENES; STING;; MPYS;; MEDIATOR OF IRF3 ACTIVATION; MITA;; ENDOPLASMIC RETICULUM INTERFERON STIMULATOR; ERIS Asterisk 612375 AXIN INTERACTOR, DORSALIZATION-ASSOCIATED; AIDA AXIN-INTERACTING PROTEIN AND DORSALIZATION ANTAGONIST Number Sign 612376 ACUTE PROMYELOCYTIC LEUKEMIA; APL LEUKEMIA, ACUTE PROMYELOCYTIC Asterisk 612377 COMM DOMAIN-CONTAINING PROTEIN 6; COMMD6 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 6 Percent 612378 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 13; SLEB13 Number Sign 612379 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES;; CDG Iq; CDGIq Percent 612380 INFLAMMATORY BOWEL DISEASE 22; IBD22 Percent 612381 INFLAMMATORY BOWEL DISEASE 23; IBD23 Asterisk 612382 MEDIATOR COMPLEX SUBUNIT 10; MED10 NUT2, S. CEREVISIAE, HOMOLOG OF Asterisk 612383 MEDIATOR COMPLEX SUBUNIT 11; MED11 HSPC296 Asterisk 612384 MEDIATOR COMPLEX SUBUNIT 18; MED18 TRAP/MEDIATOR COMPLEX SUBUNIT p28b; P28B Asterisk 612385 MEDIATOR COMPLEX SUBUNIT 19; MED19 LUNG CANCER METASTASIS-RELATED PROTEIN 1; LCMR1;; DT2P1G7 Asterisk 612386 FERROCHELATASE; FECH HEME SYNTHASE;; HEME SYNTHETASE;; IRON CHELATASE Number Sign 612387 SARCOIDOSIS, SUSCEPTIBILITY TO, 2; SS2 Percent 612388 SARCOIDOSIS, SUSCEPTIBILITY TO, 3; SS3 Number Sign 612389 PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B Number Sign 612390 PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C Caret 612391 MOVED TO 602782 Asterisk 612392 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6; NDUFAF6 CHROMOSOME 8 OPEN READING FRAME 38; C8ORF38 Asterisk 612393 WAS PROTEIN HOMOLOG ASSOCIATED WITH ACTIN, GOLGI MEMBRANES, AND MICROTUBULES; WHAMM WASP HOMOLOG-ASSOCIATED PROTEIN WITH ACTIN, MEMBRANES, AND MICROTUBULES;; WAS PROTEIN HOMOLOGY REGION 2 DOMAIN-CONTAINING PROTEIN 1; WHDC1;; WH2 DOMAIN-CONTAINING PROTEIN 1;; KIAA1971 Number Sign 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS LYSYL HYDROXYLASE 3 DEFICIENCY;; LH3 DEFICIENCY Asterisk 612395 CHOLINE KINASE, BETA; CHKB CKB;; CHOLINE KINASE-LIKE PROTEIN; CHKL;; CHOLINE/ETHANOLAMINE KINASE, BETA; CKEKB;; ETHANOLAMINE KINASE, BETA; EKB NULL 612396 ALLANTOICASE; ALLC Asterisk 612397 COLLAGEN, TYPE VI, ALPHA-4, PSEUDOGENE 1; COL6A4P1 DUAL INTRACELLULAR VON WILLEBRAND FACTOR DOMAIN A-CONTAINING PROTEIN; DVWA;; DIVA;; LOC344875 Asterisk 612398 RAB-ASSOCIATED PROTEIN RAB21; RAB21 KIAA0118 Asterisk 612399 TRANSDUCIN-LIKE ENHANCER OF SPLIT 6; TLE6 GROUCHO-RELATED GENE 6; GRG6 Number Sign 612400 OSTEOARTHRITIS SUSCEPTIBILITY 5; OS5 OSTEOARTHRITIS OF HIP Percent 612401 OSTEOARTHRITIS SUSCEPTIBILITY 6; OS6 OSTEOARTHRITIS OF KNEE Asterisk 612402 ALS2 C-TERMINAL-LIKE PROTEIN; ALS2CL Asterisk 612403 RAS-LIKE, FAMILY 11, MEMBER A; RASL11A Asterisk 612404 RAS-LIKE, FAMILY 11, MEMBER B; RASL11B Asterisk 612405 ADP-RIBOSYLATION FACTOR-LIKE 9; ARL9 Percent 612406 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17 Asterisk 612407 REGULATOR OF G PROTEIN SIGNALING 21; RGS21 Asterisk 612408 PARASPECKLE COMPONENT 1; PSPC1 PARASPECKLE PROTEIN 1; PSP1 Asterisk 612409 RNA-BINDING MOTIF PROTEIN 14; RBM14 PARASPECKLE PROTEIN 2; PSP2;; COACTIVATOR ACTIVATOR; COAA;; SYT-INTERACTING PROTEIN; SIP Percent 612410 PSORIASIS 10, SUSCEPTIBILITY TO; PSORS10 Asterisk 612411 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 4; FAT4 FATJ Asterisk 612412 SPERMATOGENESIS AND CENTRIOLE-ASSOCIATED PROTEIN 1-LIKE; SPATC1L CHROMOSOME 21 OPEN READING FRAME 56; C21ORF56 Asterisk 612413 RNA-BINDING MOTIF PROTEIN 7; RBM7 Asterisk 612414 LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE; LRTOMT LEUCINE-RICH REPEAT-CONTAINING PROTEIN 51; LRRC51;; CATECHOL-O-METHYL-TRANSFERASE-2; COMT2 LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE 1, INCLUDED; LRTOMT1, INCLUDED;; LEUCINE-RICH TRANSMEMBRANE O-METHYLTRANSFERASE 2, INCLUDED; LRTOMT2, INCLUDED Asterisk 612415 RAS-ASSOCIATED PROTEIN 24; RAB24 Number Sign 612416 FACTOR XI DEFICIENCY F11 DEFICIENCY;; PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY;; PTA DEFICIENCY;; ROSENTHAL SYNDROME Percent 612417 NARCOLEPSY 4, SUSCEPTIBILITY TO; NRCLP4 Asterisk 612418 TRANSMEMBRANE PROTEIN 70; TMEM70 Asterisk 612419 CARTILAGE INTERMEDIATE LAYER PROTEIN 2; CILP2 Asterisk 612420 ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE PROTEIN 2; AFAP1L2 AFAP1-LIKE PROTEIN 2;; XB130;; KIAA1914 Percent 612421 ALOPECIA, ANDROGENETIC, 3; AGA3 Number Sign 612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3 Number Sign 612423 PREKALLIKREIN DEFICIENCY PKK DEFICIENCY;; FLETCHER FACTOR DEFICIENCY Asterisk 612424 EYES SHUT, DROSOPHILA, HOMOLOG OF; EYS SPACEMAKER; SPAM Asterisk 612425 SHUGOSHIN-LIKE 2; SGOL2 SHUGOSHIN 2; SGO2;; TRIPIN Asterisk 612426 RECQ-MEDIATED GENOME INSTABILITY 2; RMI2 CHROMOSOME 16 OPEN READING FRAME 75; C16ORF75;; BLM-ASSOCIATED PROTEIN, 18-KD; BLAP18 Asterisk 612427 RNA-BINDING MOTIF PROTEIN 25; RBM25 ARG/GLU/ASP-RICH PROTEIN, 120-KD; RED120 Asterisk 612428 RNA-BINDING MOTIF PROTEIN 38; RBM38 RNPC1 Asterisk 612429 ZINC FINGER PROTEIN 300; ZNF300 Asterisk 612430 RNA-BINDING MOTIF PROTEIN 22; RBM22 Percent 612431 DEAFNESS, AUTOSOMAL DOMINANT 27; DFNA27 Asterisk 612432 WAS/WASL-INTERACTING PROTEIN FAMILY, MEMBER 3; WIPF3 CR16 Percent 612433 DEAFNESS, AUTOSOMAL RECESSIVE 45; DFNB45 Asterisk 612434 CYSTEINE-RICH SECRETORY PROTEIN, LCCL DOMAIN-CONTAINING, 2; CRISPLD2 Asterisk 612435 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 3A1; SLCO3A1 ORGANIC ANION TRANSPORTER D; OATPD;; ORGANIC ANION TRANSPORTER 3A1; OATP3A1 Asterisk 612436 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 4A1; SLCO4A1 ORGANIC ANION TRANSPORTER E; OATPE;; ORGANIC ANION TRANSPORTER 4A1; OATP4A1 Number Sign 612437 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B Number Sign 612438 LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 LEUKODYSTROPHY, HYPOMYELINATING, WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM; HABC Asterisk 612439 ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 3; ARFGAP3 Caret 612440 MOVED TO 607694 Asterisk 612441 ALPHA-1,6-MANNOSYL-GLYCOPROTEIN BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B; MGAT5B UDP-N-ACETYLGLUCOSAMINE:ALPHA-1,6-D-MANNOSIDE BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE;; GNT-VB;; GNT-IX Asterisk 612442 SECRETION DEFICIENT 22, S. CEREVISIAE, HOMOLOG OF, A; SEC22A SEC22L2 Caret 612443 MOVED TO 612319 Number Sign 612444 CILIARY DYSKINESIA, PRIMARY, 9; CILD9 CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS NULL 612445 SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS Number Sign 612446 COMPLEMENT COMPONENT 6 DEFICIENCY; C6D C6 DEFICIENCY COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL, INCLUDED;; C6 DEFICIENCY, SUBTOTAL, INCLUDED Number Sign 612447 SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION Percent 612448 AGE-RELATED HEARING IMPAIRMENT 1; ARHI1 PRESBYCUSIS 1 Asterisk 612449 GEN1, DROSOPHILA, HOMOLOG OF; GEN1 Asterisk 612450 HBS1-LIKE PROTEIN; HBS1L HBS1, S. CEREVISIAE, HOMOLOG OF;; ERF3-SIMILAR PROTEIN; ERFS;; KIAA1038 Asterisk 612451 RING FINGER PROTEIN 114; RNF114 ZINC FINGER PROTEIN 313; ZNF313 Asterisk 612452 KAT8 REGULATORY NSL COMPLEX, SUBUNIT 1; KANSL1 MSL1V1;; KIAA1267 Asterisk 612453 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 10; MEGF10 KIAA1780 Asterisk 612454 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 11; MEGF11 KIAA1781 Asterisk 612455 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 12; SLC5A12 SODIUM-COUPLED MONOCARBOXYLATE TRANSPORTER 2; SMCT2 Asterisk 612456 APOLIPOPROTEIN L DOMAIN-CONTAINING 1; APOLD1 VASCULAR EARLY RESPONSE GENE; VERGE Asterisk 612457 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 3B; ARID3B ARID-CONTAINING PROTEIN 3B;; DEAD RINGER, DROSOPHILA, HOMOLOG-LIKE 2; DRIL2;; BDP;; DEAD RINGER, DROSOPHILA, HOMOLOG OF, 2 Asterisk 612458 ACTIN-LIKE 6B; ACTL6B ACTIN-RELATED PROTEIN, ALPHA;; ARPN-ALPHA;; BAF53B Percent 612459 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13; BMIQ13 Number Sign 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14 OBESITY, SUSCEPTIBILITY TO Asterisk 612461 ACTIVITY-REGULATED CYTOSKELETON-ASSOCIATED PROTEIN; ARC KIAA0278 Number Sign 612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C PHP IC Number Sign 612463 PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE Asterisk 612464 ARRESTIN DOMAIN-CONTAINING 3; ARRDC3 THIOREDOXIN-BINDING PROTEIN-2-LIKE INDUCIBLE MEMBRANE; TLIMP;; KIAA1376 Asterisk 612465 TBC1 DOMAIN FAMILY, MEMBER 4; TBC1D4 AKT SUBSTRATE, 160-KD; AS160;; KIAA0603 Asterisk 612466 GUANYLATE-BINDING PROTEIN 4; GBP4 GUANYLATE-BINDING PROTEIN 3, MOUSE, HOMOLOG OF Asterisk 612467 GUANYLATE-BINDING PROTEIN 6; GBP6 GUANYLATE-BINDING PROTEIN 4, MOUSE, HOMOLOG OF; GBP4 Asterisk 612468 GUANYLATE-BINDING PROTEIN 7; GBP7 GUANYLATE-BINDING PROTEIN 7, MOUSE, HOMOLOG OF Number Sign 612469 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION, AND OBESITY SYNDROME; WAGRO WAGRO SYNDROME;; WAGR SYNDROME WITH OBESITY;; CHROMOSOME 11p13-p12 DELETION SYNDROME Asterisk 612470 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE 3; BATF3 SMALL NUCLEAR FACTOR ISOLATED FROM T CELLS, 21-KD;; p21(SNFT) Asterisk 612471 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2; AGXT2 AGT2;; BETA-ALANINE PYRUVATE AMINOTRANSFERASE;; BETA-ALAAT II Asterisk 612472 METHYLTRANSFERASE-LIKE 3; METTL3 MT-A70;; IME4, S. CEREVISIAE, HOMOLOG OF Asterisk 612473 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4 PEBP4;; COUSIN OF RKIP 1; CORK1 Number Sign 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB Number Sign 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME Asterisk 612476 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE; BATF B-CELL ACTIVATING TRANSCRIPTION FACTOR;; BATF1;; SFA2 Asterisk 612477 IQ MOTIF-CONTAINING PROTEIN G; IQCG IQCG/NUP98 FUSION GENE, INCLUDED Asterisk 612478 N-TERMINAL EF-HAND CALCIUM-BINDING PROTEIN 3; NECAB3 EFCBP3;; NEK2-INTERACTING PROTEIN 1; NIP1;; AMYLOID BETA PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2BP;; X11L-BINDING PROTEIN 51; XB51;; SYNAPTOTAGMIN-INTERACTING PROTEIN 3; STIP3;; SYNAPTOTAGMIN-INTERACTING PROTEIN 2; SYTIP2 Caret 612479 MOVED TO 603075 AND 603029 Asterisk 612480 TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP Asterisk 612481 POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 12; PARP12 ZC3HDC1;; FLJ22693 Asterisk 612482 RING FINGER PROTEIN 43; RNF43 RNF124 Asterisk 612483 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 3; FAT3 Asterisk 612484 RIBONUCLEASE, RNase A FAMILY, 7; RNASE7 Asterisk 612485 RIBONUCLEASE, RNase A FAMILY, 8; RNASE8 RNASE8, PLACENTAL Asterisk 612486 DACHSOUS, DROSOPHILA, HOMOLOG OF, 2; DCHS2 CADHERIN J, INCLUDED; CDHJ, INCLUDED;; PROTOCADHERIN J, INCLUDED; PCDHJ, INCLUDED Asterisk 612487 RING FINGER PROTEIN 31; RNF31 ZINC, IN-BETWEEN-RING FINGER, AND UBIQUITIN-ASSOCIATED DOMAINS; ZIBRA;; HOIL1-INTERACTING PROTEIN; HOIP Asterisk 612488 RING FINGER PROTEIN 38; RNF38 Asterisk 612489 RING FINGER PROTEIN 24; RNF24 GOLIATH-LIKE PROTEIN (C3CH4 TYPE); G1L Asterisk 612490 RING FINGER PROTEIN 181; RNF181 Asterisk 612491 APAF1-INTERACTING PROTEIN; APIP CGI29;; MMRP19 Asterisk 612492 UBIQUITIN-SPECIFIC PROTEASE 30; USP30 Asterisk 612493 CANOPY FGF SIGNALING REGULATOR 1; CNPY1 CANOPY 1, ZEBRAFISH, HOMOLOG OF Asterisk 612494 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10-LIKE PROTEIN; ARHGEF10L GRINCHGEF;; KIAA1626 Asterisk 612495 UBIQUITIN-CONJUGATING ENZYME E2C-BINDING PROTEIN; UBE2CBP H10BH Asterisk 612496 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19 WEAKLY SIMILAR TO RHOGEF5; WGEF Asterisk 612497 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1 TGFB-INDUCIBLE NUCLEAR PROTEIN 1; TINP1;; NSA2, S. CEREVISIAE, HOMOLOG OF; NSA2;; HUMAN SEQUENCE SIMILAR TO YEAST 29; HUSSY29 Asterisk 612498 ADENYLOSUCCINATE SYNTHASE-LIKE 1; ADSSL1 Asterisk 612499 DIMETHYLADENOSINE TRANSFERASE 1-LIKE; DIMT1L DIM1, S. CEREVISIAE, HOMOLOG OF; DIM1;; HUMAN SEQUENCE SIMILAR TO YEAST 5; HUSSY5 Asterisk 612500 DEAD BOX POLYPEPTIDE 52; DDX52 ROK1, S. CEREVISIAE, HOMOLOG OF; ROK1;; HUMAN SEQUENCE SIMILAR TO YEAST 19; HUSSY19 Asterisk 612501 UBIQUITIN-CONJUGATING ENZYME E2Q 2; UBE2Q2 LOC92912 Asterisk 612502 COLLECTIN 11; COLEC11 COLLECTIN, KIDNEY, 1; CLK1 Asterisk 612503 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5 KIAA1888 Asterisk 612504 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 6; ABCA6 Asterisk 612505 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 8; ABCA8 KIAA0822 Asterisk 612506 UBIQUITIN-CONJUGATING ENZYME E2R 2; UBE2R2 UBIQUITIN-CONJUGATING ENZYME UBC3B; UBC3B Asterisk 612507 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 9; ABCA9 Asterisk 612508 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 10; ABCA10 Asterisk 612509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 10; ABCC10 MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 7; MRP7 Asterisk 612510 ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 2; ABCF2 HUMAN SEQUENCE SIMILAR TO YEAST 18; HUSSY18 Asterisk 612511 MICRO RNA 101-1; MIRN101-1 miRNA101-1;; MIR101-1 Asterisk 612512 MICRO RNA 101-2; MIRN101-2 miRNA101-2;; MIR101-2 Number Sign 612513 CHROMOSOME 2p16.1-p15 DELETION SYNDROME Percent 612514 SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4 Asterisk 612515 DDB1- AND CUL4-ASSOCIATED FACTOR 17; DCAF17 CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37 Asterisk 612516 UVEAL AUTOANTIGEN WITH COILED-COIL DOMAINS AND ANKYRIN REPEATS; UACA NUCLING Asterisk 612517 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 2; DNAAF2 KINTOUN, MEDAKA, HOMOLOG OF; KTU;; CHROMOSOME 14 OPEN READING FRAME 104; C14ORF104 Number Sign 612518 CILIARY DYSKINESIA, PRIMARY, 10; CILD10 CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS Asterisk 612519 SOLUTE CARRIER FAMILY 35, MEMBER D3; SLC35D3 Number Sign 612520 DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20 Percent 612521 DIABETES MELLITUS, INSULIN-DEPENDENT, 21; IDDM21 Number Sign 612522 DIABETES MELLITUS, INSULIN-DEPENDENT, 22; IDDM22 Asterisk 612523 IQ MOTIF-CONTAINING PROTEIN H: IQCH NYD-SP5 Asterisk 612524 RIBONUCLEASE P/MRP, 21-KD SUBUNIT; RPP21 Percent 612525 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 5; IHPS5 Number Sign 612526 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; BSCL3;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 3 Number Sign 612527 DIAMOND-BLACKFAN ANEMIA 4; DBA4 Number Sign 612528 DIAMOND-BLACKFAN ANEMIA 5; DBA5 Number Sign 612529 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 2 Number Sign 612530 CHROMOSOME 1q41-q42 DELETION SYNDROME HOLOPROSENCEPHALY 10, INCLUDED; HPE10, INCLUDED Asterisk 612531 THAP DOMAIN-CONTAINING PROTEIN 2; THAP2 Asterisk 612532 THAP DOMAIN-CONTAINING PROTEIN 3; THAP3 Asterisk 612533 THAP DOMAIN-CONTAINING PROTEIN 4; THAP4 Asterisk 612534 THAP DOMAIN-CONTAINING PROTEIN 5; THAP5 Asterisk 612535 THAP DOMAIN-CONTAINING PROTEIN 6; THAP6 Asterisk 612536 THAP DOMAIN-CONTAINING PROTEIN 8; THAP8 Asterisk 612537 THAP DOMAIN-CONTAINING PROTEIN 9; THAP9 Asterisk 612538 THAP DOMAIN-CONTAINING PROTEIN 10; THAP10 Number Sign 612539 SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; SPG42 Number Sign 612540 MYOPATHY, CONGENITAL, COMPTON-NORTH; MYPCN Number Sign 612541 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4 DURSUN SYNDROME, INCLUDED;; PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT, INCLUDED Number Sign 612542 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B12QTL1 Asterisk 612543 UBIQUITIN-SPECIFIC PROTEASE 36; USP36 KIAA1453 Asterisk 612544 ACTIN-BINDING LIM PROTEIN FAMILY, MEMBER 2; ABLIM2 KIAA1808 Asterisk 612545 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 26; WBSCR26 Asterisk 612546 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 27; WBSCR27 Asterisk 612547 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 28; WBSCR28 Asterisk 612548 TRIPARTITE MOTIF-CONTAINING PROTEIN 50; TRIM50 TRIM50A Asterisk 612549 TRIPARTITE MOTIF-CONTAINING PROTEIN 73; TRIM73 TRIM50B Asterisk 612550 TRIPARTITE MOTIF-CONTAINING PROTEIN 74; TRIM74 TRIM50C Number Sign 612551 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO; FSGS4 END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO, INCLUDED Asterisk 612552 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 4; ZBED4 BED-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 4;; KIAA0637 Asterisk 612553 MICRO RNA 370; MIR370 miRNA370;; MIRN370 Percent 612554 MYOPIA 16, AUTOSOMAL DOMINANT; MYP16 Number Sign 612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED;; OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, INCLUDED Number Sign 612556 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1; ADIPQTL1 ADIPONECTIN DEFICIENCY, INCLUDED;; HYPOADIPONECTINEMIA, INCLUDED Percent 612557 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 3 CLLS3 Percent 612558 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 4 CLLS4 Percent 612559 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 5 CLLS5 Number Sign 612560 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12 Number Sign 612561 DIAMOND-BLACKFAN ANEMIA 6; DBA6 AASE-SMITH SYNDROME II Number Sign 612562 DIAMOND-BLACKFAN ANEMIA 7; DBA7 Number Sign 612563 DIAMOND-BLACKFAN ANEMIA 8; DBA8 Asterisk 612564 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 9; TXNDC9 PHOSDUCIN-LIKE PROTEIN 3; PHLP3 Asterisk 612565 RAS-ASSOCIATED PROTEIN RAB1B; RAB1B Percent 612566 INFLAMMATORY BOWEL DISEASE 24; IBD24 Number Sign 612567 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE Asterisk 612568 SPIC TRANSCRIPTION FACTOR; SPIC Asterisk 612569 CELL DIVISION CYCLE AND APOPTOSIS REGULATOR 1; CCAR1 CELL CYCLE AND APOPTOSIS REGULATORY PROTEIN 1; CARP1 Asterisk 612570 FIBRILLIN 2; FBN2 Percent 612571 LUNG CANCER SUSCEPTIBILITY 3; LNCR3 ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO Number Sign 612572 RETINITIS PIGMENTOSA 46; RP46 RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED Percent 612573 MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 1; MPVCQTL1 Percent 612574 MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 2; MPVCQTL2 PLATELET COUNT QUANTITATIVE TRAIT LOCUS 1 Percent 612575 MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 3; MPVCQTL3 Number Sign 612576 CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 3; SHFLD3 Number Sign 612577 AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11 Percent 612578 STATURE QUANTITATIVE TRAIT LOCUS 15; STQTL15 Percent 612579 STATURE QUANTITATIVE TRAIT LOCUS 16; STQTL16 Number Sign 612580 MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD3 Percent 612581 MENTAL RETARDATION, AUTOSOMAL DOMINANT 4; MRD4 Number Sign 612582 CHROMOSOME 6pter-p24 DELETION SYNDROME Asterisk 612583 SPHINGOLIPID TRANSPORTER 1; SPNS1 SPINSTER, DROSOPHILA, HOMOLOG OF, 1;; SPIN1 Asterisk 612584 SPHINGOLIPID TRANSPORTER 2; SPNS2 SPINSTER, DROSOPHILA, HOMOLOG OF, 2 Asterisk 612585 CLPTM1-LIKE PROTEIN; CLPTM1L CISPLATIN RESISTANCE-RELATED PROTEIN 9; CRR9 Percent 612586 ANEURYSM, INTRACRANIAL BERRY, 9; ANIB9 Percent 612587 ANEURYSM, INTRACRANIAL BERRY, 10; ANIB10 Asterisk 612588 BCL2-ASSOCIATED TRANSCRIPTION FACTOR 1; BCLAF1 BTF;; KIAA0164 Percent 612589 COLORECTAL CANCER, SUSCEPTIBILITY TO, 8; CRCS8 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 14q Percent 612590 COLORECTAL CANCER, SUSCEPTIBILITY TO, 9; CRCS9 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 16q Number Sign 612591 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10; CRCS10 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q Percent 612592 COLORECTAL CANCER, SUSCEPTIBILITY TO, 11; CRCS11 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 20p Percent 612593 LUNG CANCER SUSCEPTIBILITY 4; LNCR4 Percent 612594 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2 Percent 612595 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3 Percent 612596 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 4; MS4 Asterisk 612597 CYTOTOXIC AND REGULATORY T-CELL MOLECULE; CRTAM CLASS I MAJOR HISTOCOMPATIBILITY COMPLEX-RESTRICTED T-CELL-ASSOCIATED MOLECULE Asterisk 612598 RING FINGER PROTEIN 11; RNF11 Percent 612599 PSORIASIS 11, SUSCEPTIBILITY TO; PSORS11 Asterisk 612600 RNA METHYLTRANSFERASE-LIKE 1; RNMTL1 HC90 Asterisk 612601 RET FINGER PROTEIN-LIKE 4A; RFPL4A RNF210 Asterisk 612602 RNA-BINDING MOTIF PROTEIN 15B; RBM15B ONE TWENTY TWO PROTEIN 3; OTT3;; HUMAGCGB Asterisk 612603 LATE CORNIFIED ENVELOPE PROTEIN 1A; LCE1A LATE ENVELOPE PROTEIN 1; LEP1 LATE CORNIFIED ENVELOPE GENE CLUSTER, INCLUDED;; LCE GENE CLUSTER, INCLUDED Asterisk 612604 LATE CORNIFIED ENVELOPE PROTEIN 1B; LCE1B LATE ENVELOPE PROTEIN 2; LEP2 Asterisk 612605 LATE CORNIFIED ENVELOPE 1C; LCE1C LATE ENVELOPE PROTEIN 3; LEP3 Asterisk 612606 LATE CORNIFIED ENVELOPE PROTEIN 1D; LCE1D LATE ENVELOPE PROTEIN 4; LEP4 Asterisk 612607 LATE CORNIFIED ENVELOPE PROTEIN 1E; LCE1E LATE ENVELOPE PROTEIN 5; LEP5 Asterisk 612608 LATE CORNIFIED ENVELOPE PROTEIN 1F; LCE1F LATE ENVELOPE PROTEIN 6; LEP6 Asterisk 612609 LATE CORNIFIED ENVELOPE PROTEIN 2A; LCE2A LATE ENVELOPE PROTEIN 9; LEP9 Asterisk 612610 LATE CORNIFIED ENVELOPE PROTEIN 2B; LCE2B LATE ENVELOPE PROTEIN 10; LEP10;; XP5 Asterisk 612611 LATE CORNIFIED ENVELOPE PROTEIN 2C; LCE2C LATE ENVELOPE PROTEIN 11; LEP11 Asterisk 612612 LATE CORNIFIED ENVELOPE PROTEIN 2D; LCE2D LATE ENVELOPE PROTEIN 12; LEP12 Asterisk 612613 LATE CORNIFIED ENVELOPE PROTEIN 3A; LCE3A LATE ENVELOPE PROTEIN 13; LEP13 Asterisk 612614 LATE CORNIFIED ENVELOPE PROTEIN 3B; LCE3B LATE ENVELOPE PROTEIN 14; LEP14 Asterisk 612615 LATE CORNIFIED ENVELOPE PROTEIN 3C; LCE3C LATE ENVELOPE PROTEIN 15; LEP15 Asterisk 612616 LATE CORNIFIED ENVELOPE PROTEIN 3D; LCE3D LATE ENVELOPE PROTEIN 16; LEP16 Asterisk 612617 LATE CORNIFIED ENVELOPE PROTEIN 3E; LCE3E LATE ENVELOPE PROTEIN 17; LEP17 Asterisk 612618 LATE CORNIFIED ENVELOPE PROTEIN 4A; LCE4A LATE ENVELOPE PROTEIN 8; LEP8 Asterisk 612619 LATE CORNIFIED ENVELOPE PROTEIN 5A; LCE5A LATE ENVELOPE PROTEIN 18; LEP18 Asterisk 612620 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 6; RASSF6 Number Sign 612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 Percent 612622 DIABETES MELLITUS, INSULIN-DEPENDENT, 23; IDDM23 Number Sign 612623 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2; MVCD2 PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO Number Sign 612624 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3; MVCD3 NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO;; END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO Asterisk 612625 LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1 LMBD1;; NES-INTERACTING PROTEIN; NESI Number Sign 612626 CHROMOSOME 15q26-qter DELETION SYNDROME DRAYER SYNDROME Percent 612627 SEIZURES, BENIGN FAMILIAL INFANTILE, 4; BFIS4 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 4; BFIC4 Number Sign 612628 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4; MVCD4 NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO Percent 612629 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 4; ADIPQTL4 Number Sign 612630 HAIR MORPHOLOGY 1; HRM1 HAIR THICKNESS, VARIATION IN Number Sign 612631 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO Percent 612632 USHER SYNDROME, TYPE IH; USH1H Number Sign 612633 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5; MVCD5 RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO Number Sign 612634 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6 NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO Number Sign 612635 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7; MVCD7 PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO;; NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO Asterisk 612636 UNC80, C. ELEGANS, HOMOLOG OF; UNC80 CHROMOSOME 2 OPEN READING FRAME 21; C2ORF21;; KIAA1843 Percent 612637 FEBRILE SEIZURES, FAMILIAL, 10; FEB10 CONVULSIONS, FAMILIAL FEBRILE, 10 Asterisk 612638 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, 11; NDUFA11 Percent 612639 INFLAMMATORY BOWEL DISEASE 26; IBD26 Asterisk 612640 THYMUS, BRAIN, AND TESTES ASSOCIATED; TBATA CHROMOSOME 10 OPEN READING FRAME 27; C10ORF27 Asterisk 612641 ANKYRIN 1; ANK1 ANKYRIN, ERYTHROID ANKYRIN-R, INCLUDED; ANK, INCLUDED;; ANKYRIN 1 MUSCLE-SPECIFIC ISOFORM, INCLUDED Percent 612642 DEAFNESS, AUTOSOMAL DOMINANT 59; DFNA59 Number Sign 612643 DEAFNESS, AUTOSOMAL DOMINANT 3B; DFNA3B Number Sign 612644 DEAFNESS, AUTOSOMAL DOMINANT 2B; DFNA2B Number Sign 612645 DEAFNESS, AUTOSOMAL RECESSIVE 1B; DFNB1B Asterisk 612646 METASTASIS-ASSOCIATED GENE IN COLON CANCER 1; MACC1 Asterisk 612647 RADIAL SPOKE HEAD 4, CHLAMYDOMONAS, HOMOLOG OF, A; RSPH4A Asterisk 612648 RADIAL SPOKE HEAD 9, CHLAMYDOMONAS, HOMOLOG OF; RSPH9 Number Sign 612649 CILIARY DYSKINESIA, PRIMARY, 11; CILD11 CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS Number Sign 612650 CILIARY DYSKINESIA, PRIMARY, 12; CILD12 CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS Number Sign 612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO Caret 612652 MOVED TO 219150 Number Sign 612653 SPHEROCYTOSIS, TYPE 4; SPH4 SPHEROCYTOSIS, HEREDITARY, 4; HS4 Asterisk 612654 TRICHOPLEIN; TCHP TRICHOPLEIN, KERATIN FILAMENT-BINDING;; MITOSTATIN Asterisk 612655 TBC1 DOMAIN FAMILY, MEMBER 7; TBC1D7 CELL MIGRATION-INDUCING PROTEIN 23;; PIG51;; TBC7 Number Sign 612656 EPISODIC ATAXIA, TYPE 6; EA6 Number Sign 612657 CONE-ROD DYSTROPHY 12; CORD12 Asterisk 612658 TIGHT JUNCTION-ASSOCIATED PROTEIN 1; TJAP1 PROTEIN INCORPORATED LATER INTO TIGHT JUNCTIONS; PILT;; TIGHT JUNCTION PROTEIN 4; TJP4 Asterisk 612659 REGULATORY FACTOR X, 6; RFX6 RFXDC1 Asterisk 612660 REGULATORY FACTOR X, 7; RFX7 RFXDC2 Asterisk 612661 WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53; WRAP53 TELOMERASE CAJAL BODY PROTEIN 1; TCAB1;; WD REPEAT-CONTAINING PROTEIN 79; WDR79 Asterisk 612662 TBC1 DOMAIN FAMILY, MEMBER 15; TBC1D15 Asterisk 612663 TRAF-INTERACTING PROTEIN WITH FORKHEAD-ASSOCIATED DOMAIN, FAMILY MEMBER B; TIFAB TIFA-RELATED PROTEIN Asterisk 612664 RAS-LIKE AND ESTROGEN-REGULATED GROWTH INHIBITOR; RERG Asterisk 612665 TESTIS-EXPRESSED GENE 101; TEX101 SPERMATOGENESIS-RELATED GENE; SGRG;; SCLERODERMA-ASSOCIATED AUTOANTIGEN;; TESTIS-SPECIFIC 101 REACTIVE PROTEIN; TES101RP Asterisk 612666 DUAL SERINE/THREONINE AND TYROSINE PROTEIN KINASE; DSTYK RECEPTOR-INTERACTING SERINE/THREONINE KINASE 5; RIPK5;; KIAA0472;; RECEPTOR-INTERACTING PROTEIN 5; RIP5;; DUSTY PROTEIN KINASE; DUSTYPK Asterisk 612667 HOLLIDAY JUNCTION RECOGNITION PROTEIN; HJURP Asterisk 612668 TASTE RECEPTOR, TYPE 2, MEMBER 43; TAS2R43 T2R52 Asterisk 612669 TASTE RECEPTOR, TYPE 2, MEMBER 31; TAS2R31 T2R53;; TASTE RECEPTOR, TYPE 2, MEMBER 44, FORMERLY; TAS2R44, FORMERLY Caret 612670 MOVED TO 138900 Number Sign 612671 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 GOUT SUSCEPTIBILITY 4; GOUT4 Asterisk 612672 RAS-ASSOCIATED PROTEIN RAB10; RAB10 Asterisk 612673 RAS-ASSOCIATED PROTEIN RAB14; RAB14 Number Sign 612674 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC Asterisk 612675 SMALL CAJAL BODY-SPECIFIC RNA 15; SCARNA15 ACA45 Asterisk 612676 QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR DIHYDROPTERIDINE REDUCTASE; DHPR Asterisk 612677 PYRIN AND HIN DOMAIN FAMILY, MEMBER 1; PYHIN1 INTERFERON-INDUCIBLE PROTEIN X; IFIX Asterisk 612678 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 3; CELF3 TRINUCLEOTIDE REPEAT-CONTAINING GENE 4; TNRC4;; BRUNO-LIKE 1; BRUNOL1;; CUGBP- AND ETR3-LIKE FACTOR 3 Asterisk 612679 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 4; CELF4 CUGBP- AND ETR3-LIKE FACTOR 4;; BRUNO-LIKE 4; BRUNOL4 Asterisk 612680 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 5; CELF5 BRUNO-LIKE 5; BRUNOL5;; CUGBP- AND ETR3-LIKE FACTOR 5 Asterisk 612681 CUGBP- AND ELAV-LIKE FAMILY, MEMBER 6; CELF6 BRUNO-LIKE 6; BRUNOL6;; CUGBP- AND ETR3-LIKE FACTOR 6 Asterisk 612682 DORSAL REPULSIVE AXON GUIDANCE PROTEIN DRAXIN;; CHROMOSOME 1 OPEN READING FRAME 187; C1ORF187;; NEUCRIN Asterisk 612683 TEKTIN 3; TEKT3 TESTICULAR MICROTUBULES-RELATED PROTEIN Asterisk 612684 ISTHMIN 2, ZEBRAFISH, HOMOLOG OF; ISM2 THROMBOSPONDIN TYPE 1 DOMAIN-CONTAINING PROTEIN 3; THSD3;; THROMBOSPONDIN- AND AMOP-CONTAINING ISTHMIN-LIKE 1; TAIL1 Asterisk 612685 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 3; CAMSAP3 KIAA1543 GENE; KIAA1543;; NEZHA Asterisk 612686 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY A, MEMBER 7; PLEKHA7 Asterisk 612687 RGM DOMAIN FAMILY, MEMBER B; RGMB DRAGON;; REPULSIVE GUIDANCE MOLECULE B Asterisk 612688 RING FINGER PROTEIN 168; RNF168 Asterisk 612689 TIGHT JUNCTION PROTEIN 3; TJP3 ZONA OCCLUDENS 3; ZO3 Number Sign 612690 SPHEROCYTOSIS, TYPE 5; SPH5 SPHEROCYTOSIS, HEREDITARY, 5; HS5 Number Sign 612691 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL; BTOP Number Sign 612692 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT Asterisk 612693 UBIQUITIN-RELATED MODIFIER 1, S. CEREVISIAE, HOMOLOG OF; URM1 Asterisk 612694 CYTOSOLIC THIOURIDYLASE, SUBUNIT 1; CTU1 ATP-BINDING DOMAIN PROTEIN 3; ATPBD3 Asterisk 612695 VAULT RNA 1-1; VTRNA1-1 HVG1;; VAULT RNA COMPONENT 1; VAULTRC1 Asterisk 612696 VAULT RNA 1-2; VTRNA1-2 HVG2;; VAULT RNA COMPONENT 2; VAULTRC2 Asterisk 612697 VAULT RNA 1-3; VTRNA1-3 HVG3;; VAULT RNA COMPONENT 3; VAULTRC3 Asterisk 612698 MICRO RNA 187; MIR187 MIRN187;; miRNA187 Asterisk 612699 RIMS-BINDING PROTEIN 3; RIMBP3 RIMBP3A;; RIMBP3.1;; KIAA1666 Asterisk 612700 RIMS-BINDING PROTEIN 3B; RIMBP3B RIMBP3.2 Asterisk 612701 RIMS-BINDING PROTEIN 3C; RIMBP3C RIMBP3.3 Number Sign 612702 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6 Number Sign 612703 MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7 Asterisk 612704 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 1; RGPD1 RGP1 Asterisk 612705 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 2; RGPD2 RGP2 Asterisk 612706 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 3; RGPD3 RGP3 Asterisk 612707 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 4; RGPD4 RGP4 Asterisk 612708 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 5; RGPD5 RGP5;; BS63 Asterisk 612709 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 6; RGPD6 RGP6 Asterisk 612710 RANBP2-LIKE AND GRIP DOMAIN-CONTAINING PROTEIN 7; RGPD7 RGP7 Asterisk 612711 GRIP AND COILED-COIL DOMAIN-CONTAINING PROTEIN 2; GCC2 GCC PROTEIN, 185-KD; GCC185;; KIAA0336 Number Sign 612712 LEBER CONGENITAL AMAUROSIS 13; LCA13 RETINITIS PIGMENTOSA 53, INCLUDED; RP53, INCLUDED Number Sign 612713 KAHRIZI SYNDROME; KHRZ MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE Number Sign 612714 EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS Percent 612715 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 2; DUH2 Number Sign 612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY SEPIAPTERIN REDUCTASE DEFICIENCY; SRD;; SPR DEFICIENCY Percent 612717 MYOPIA 15, AUTOSOMAL DOMINANT; MYP15 Number Sign 612718 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY;; AGAT DEFICIENCY;; GATM DEFICIENCY;; CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY Asterisk 612719 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS PTPS Asterisk 612720 DEAH BOX POLYPEPTIDE 29; DHX29 Asterisk 612721 REGULATED ENDOCRINE-SPECIFIC PROTEIN 18 RESP18 Asterisk 612722 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 3; ELP3 ELONGATION PROTEIN 3, S. CEREVISIAE, HOMOLOG OF;; KAT9 Asterisk 612723 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY H, MEMBER 2; PLEKHH2 Asterisk 612724 ALDOLASE B, FRUCTOSE-BISPHOSPHATE; ALDOB FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B;; ALDOLASE B; ALDB;; ALDOLASE 2; ALDO2 Asterisk 612725 PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C Percent 612726 HARDIKAR SYNDROME Percent 612727 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 13; BMND13 Percent 612728 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 14; BMND14 Percent 612729 LEAN BODY MASS QUANTITATIVE TRAIT LOCUS 1; LBMQTL1 Asterisk 612730 SOLUTE CARRIER FAMILY 9 (SODIUM/HYDROGEN EXCHANGER), MEMBER 8; SLC9A8 SODIUM/HYDROGEN EXCHANGER 8; NHE8;; KIAA0939 Percent 612731 FACIOCARDIOMELIC SYNDROME Asterisk 612732 COPROPORPHYRINOGEN OXIDASE; CPOX CPO;; CPX Asterisk 612733 THO COMPLEX, SUBUNIT 5; THOC5 FMS-INTERACTING PROTEIN; FMIP;; PK1.3;; FSAP79 Asterisk 612734 TLX1 DIVERGENT GENE TD1 Asterisk 612735 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-3; HLA-DRB3 HLA-DR52 Number Sign 612736 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY;; GAMT DEFICIENCY;; CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY Percent 612737 STATURE QUANTITATIVE TRAIT LOCUS 17; STQTL17 Asterisk 612738 SOLUTE CARRIER FAMILY 9, MEMBER 10; SLC9A10 SPERM-SPECIFIC SODIUM PROTON EXCHANGER Asterisk 612739 SPERM ACROSOME-ASSOCIATED PROTEIN 1; SPACA1 SPERM ACROSOME MEMBRANE-ASSOCIATED PROTEIN 32; SAMP32 Number Sign 612740 PORPHYRIA, ACUTE HEPATIC DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY;; ALAD DEFICIENCY;; PORPHYRIA, ALAD;; PORPHOBILINOGEN SYNTHASE DEFICIENCY;; DOSS PORPHYRIA LEAD POISONING, SUSCEPTIBILITY TO, INCLUDED Asterisk 612741 SNAIL FAMILY TRANSCRIPTIONAL REPRESSOR 3; SNAI3 SNAIL, DROSOPHILA, HOMOLOG OF, 3; SNAIL3;; SMUC;; ZFP293 Asterisk 612742 MICRO RNA 181A1; MIR181A1 miRNA181A1;; MIRN181A1;; MIR213 Asterisk 612743 MICRO RNA 181A2; MIR181A2 miRNA181A2;; MIRN181A2 Asterisk 612744 MICRO RNA 181B1; MIR181B1 miRNA181B1;; MIRN181B1 Asterisk 612745 MICRO RNA 181B2; MIR181B2 miRNA181B2;; MIRN181B2 Asterisk 612746 MICRO RNA 181C; MIR181C miRNA181C;; MIRN181C Asterisk 612747 TUFTELIN-INTERACTING PROTEIN 11; TFIP11 TUFTELIN-INTERACTING PROTEIN, 39-KD; TIP39;; NTR1, S. CEREVISIAE, HOMOLOG OF Asterisk 612748 LYSOZYME-LIKE 2; LYZL2 LYSOZYME 2 Asterisk 612749 SPERM ACROSOME-ASSOCIATED PROTEIN 3; SPACA3 LYSOZYME-LIKE 3; LYZL3;; SPERM LYSOZYME-LIKE PROTEIN 1; SLLP1;; LYC3;; ALLP17 Asterisk 612750 LYSOZYME-LIKE 4; LYZL4 Asterisk 612751 LYSOZYME-LIKE 6; LYZL6 Asterisk 612752 CXXC FINGER PROTEIN 5; CXXC5 RETINOID-INDUCIBLE NUCLEAR FACTOR; RINF Asterisk 612753 COLLAGEN AND CALCIUM-BINDING EGF DOMAIN-CONTAINING PROTEIN 1; CCBE1 KIAA1983 Asterisk 612754 GLUTAREDOXIN 3; GLRX3 GRX3;; PROTEIN KINASE C-INTERACTING COUSIN OF THIOREDOXIN; PICOT Asterisk 612755 MITOCHONDRIAL DISTRIBUTION AND MORPHOLOGY 20, YEAST, HOMOLOG OF MDM20;; CHROMOSOME 12 OPEN READING FRAME 30; C12ORF30 Asterisk 612756 TESTICULAR CELL ADHESION MOLECULE 1; TCAM1 Asterisk 612757 GLYCOSYLPHOSPHATIDYLINOSITOL-ANCHORED HIGH DENSITY LIPOPROTEIN-BINDING PROTEIN 1; GPIHBP1 Asterisk 612758 TRANSMEMBRANE ANTERIOR POSTERIOR TRANSFORMATION 1; TAPT1 CYTOMEGALOVIRUS gH FUSION RECEPTOR; CMVFR Percent 612759 SYNESTHESIA SYNSTH Asterisk 612760 SNF-RELATED KINASE; SNRK SNF1-RELATED KINASE;; KIAA0096 Asterisk 612761 SWI/SNF-RELATED, MATRIX-ASSOCIATED ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, DEAD/H BOX-CONTAINING, 1; SMARCAD1 KIAA1122;; ENHANCER TRAP LOCUS 1, MOUSE, HOMOLOG OF; ETL1;; HUMAN HELICASE 1; HEL1 Asterisk 612762 SUPPRESSOR OF TY 7-LIKE; SUPT7L SUPPRESSOR OF TY 7, S. CEREVISIAE, HOMOLOG OF, 7; SUPT7H;; SPTF-ASSOCIATED FACTOR 65-GAMMA; STAF65-GAMMA;; STAGA COMPLEX, 65-KD, GAMMA SUBUNIT;; SPT7L;; KIAA0764 Asterisk 612763 TRANSCRIPTIONAL ADAPTOR 1-LIKE; TADA1L HFI1/ADA1, YEAST, HOMOLOG OF;; SPT3-ASSOCIATED FACTOR 42; STAF42 Asterisk 612764 ISY1 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; ISY1 KIAA1160 Asterisk 612765 SFI1, YEAST, HOMOLOG OF; SFI1 SPINDLE ASSEMBLY-ASSOCIATED PROTEIN SFI1;; KIAA0542 Asterisk 612766 BRISC AND BRCA1 A COMPLEX, MEMBER 1; BABAM1 CHROMOSOME 19 OPEN READING FRAME 62; C19ORF62;; MEDIATOR OF RAP80 INTERACTIONS AND TARGETING, 40-KD; MERIT40;; NEW COMPONENT OF BRCA1 A COMPLEX 1; NBA1 Asterisk 612767 DEAH BOX POLYPEPTIDE 36; DHX36 G4 RESOLVASE 1; G4R1;; RNA HELICASE ASSOCIATED WITH AU-RICH ELEMENTS; RHAU;; KIAA1488 Asterisk 612768 FOLLICULIN-INTERACTING PROTEIN 2; FNIP2 FNIP1-LIKE PROTEIN; FNIPL;; METHYLGUANINE-INDUCED APOPTOSIS 1; MAPO1;; KIAA1450 Asterisk 612769 NONCODING NUCLEAR-ENRICHED ABUNDANT TRANSCRIPT 1; NEAT1 NONCODING RNA 84; NCRNA00084 TROPHOBLAST-DERIVED NONCODING RNA, INCLUDED; TNCRNA, INCLUDED Asterisk 612770 PHOSPHATIDYLSERINE DECARBOXYLASE; PISD PSD;; PSSC Asterisk 612771 DUAL OXIDASE MATURATION FACTOR 1; DUOXA1 Asterisk 612772 DUAL OXIDASE MATURATION FACTOR 2; DUOXA2 Asterisk 612773 BASAL CELL ADHESION MOLECULE; BCAM B-CELL ADHESION MOLECULE;; CD239;; MSK19 Asterisk 612774 TASTE RECEPTOR, TYPE 2, MEMBER 46; TAS2R46 T2R46;; T2R54 Number Sign 612775 CONE-ROD DYSTROPHY 9; CORD9 Percent 612776 HYPOGLOSSIA WITH SITUS INVERSUS HYPOGLOSSIA, ISOLATED, INCLUDED NULL 612777 HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY Asterisk 612778 SET DOMAIN-CONTAINING PROTEIN 2; SETD2 SET2;; HUNTINGTIN-INTERACTING PROTEIN B; HYPB;; HUNTINGTIN-BINDING PROTEIN, 231-KD; HBP231;; KIAA1732 Asterisk 612779 DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD DPD Number Sign 612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES SESAME SYNDROME;; EPILEPSY, ATAXIA, SENSORINEURAL DEAFNESS, AND TUBULOPATHY;; EAST SYNDROME Number Sign 612781 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B IGHD IB Number Sign 612782 IMMUNODEFICIENCY 9; IMD9 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 Number Sign 612783 IMMUNODEFICIENCY 10; IMD10 IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2;; STIM1 DEFICIENCY Asterisk 612784 HUNTINGTIN-INTERACTING PROTEIN K HUNTINGTIN YEAST 2-HYBRID PROTEIN K; HYPK NULL 612785 MEGARBANE-JALKH SYNDROME DEVELOPMENTAL DELAY, DYSMORPHIC FEATURES, NEONATAL SPONTANEOUS FRACTURES, WRINKLED SKIN, AND HEPATIC FAILURE Asterisk 612786 CYCLIN Y; CCNY CYCLIN-FOLD PROTEIN 1; CFP1;; CYCLIN X; CCNX;; CHROMOSOME 10 OPEN READING FRAME 9; C10ORF9 Asterisk 612787 PSEUDOURIDYLATE SYNTHASE 10; PUS10 PSEUDOURIDINE SYNTHASE 10;; DOWNSTREAM OF BID; DOBI Asterisk 612788 FORKHEAD BOX Q1; FOXQ1 HFH1 Percent 612789 DEAFNESS, AUTOSOMAL RECESSIVE 71; DFNB71 Asterisk 612790 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 28; ARHGEF28 RGNEF, MOUSE, HOMOLOG OF;; GUANINE NUCLEOTIDE EXCHANGE FACTOR, 190-KD;; p190RHOGEF;; KIAA1998;; RHO-INTERACTING PROTEIN 2; RIP2;; RhoGEF Asterisk 612791 ZINC FINGER PROTEIN WITH KRAB AND SCAN DOMAINS 3; ZKSCAN3 ZINC FINGER PROTEIN 306; ZNF306 Asterisk 612792 PHOSPHATIDYLSERINE SYNTHASE 1; PTDSS1 PSS1;; KIAA0024 Asterisk 612793 PHOSPHATIDYLSERINE SYNTHASE 2; PTDSS2 PSS2 Number Sign 612794 ATRIAL SEPTAL DEFECT 5; ASD5 Percent 612795 POLYUNSATURATED FATTY ACIDS PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; PUFAQTL1 Percent 612796 INFLAMMATORY BOWEL DISEASE 27; IBD27 Number Sign 612797 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12; HDLCQ12 Number Sign 612798 QUESTION MARK EARS, ISOLATED; QME EARS, PROMINENT AND CONSTRICTED;; COSMAN DEFORMITY OF THE AURICLE;; AURICULAR CLEFT, CONGENITAL Asterisk 612799 GLUTAMYL-tRNA SYNTHETASE 2; EARS2 GLUTAMYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL GLURS;; KIAA1970 Asterisk 612800 CYSTEINYL-tRNA SYNTHETASE 2; CARS2 CYSTEINYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL CYSRS Asterisk 612801 ISOLEUCYL-tRNA SYNTHETASE 2; IARS2 ISOLEUCYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL ILERS Asterisk 612802 VALYL-tRNA SYNTHETASE 2; VARS2 VALYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL VALRS;; KIAA1885 Asterisk 612803 ASPARAGINYL-tRNA SYNTHETASE 2; NARS2 ASPARAGINYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL ASNRS Asterisk 612804 SERYL-tRNA SYNTHETASE 2; SARS2 SERYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL SERRS Asterisk 612805 THREONYL-tRNA SYNTHETASE 2; TARS2 THREONYL-tRNA SYNTHETASE, MITOCHONDRIAL;; MITOCHONDRIAL THRRS Asterisk 612806 G PROTEIN-COUPLED RECEPTOR 89B; GPR89B GOLGI pH REGULATOR; GPHR;; GPR89, TELOMERIC COPY Asterisk 612807 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; LRFN1 SYNAPTIC ADHESION-LIKE MOLECULE 2; SALM2;; KIAA1484 Asterisk 612808 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 2; LRFN2 SYNAPTIC ADHESION-LIKE MOLECULE 1; SALM1;; KIAA1246 Asterisk 612809 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3; LRFN3 SYNAPTIC ADHESION-LIKE MOLECULE 4; SALM4 Asterisk 612810 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 4; LRFN4 SYNAPTIC ADHESION-LIKE MOLECULE 3; SALM3 Asterisk 612811 LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 5; LRFN5 SYNAPTIC ADHESION-LIKE MOLECULE 5; SALM5 Asterisk 612812 PROFILIN 3; PFN3 Number Sign 612813 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE; SEMDAG SEMD, AGGRECAN TYPE Asterisk 612814 SPERMATOGENESIS-ASSOCIATED PROTEIN 18; SPATA18 SPERMATID-EXPRESSED GENE 1; SPETEX1 Asterisk 612815 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 13; ZDHHC13 HIP14-LIKE; HIP14L Asterisk 612816 UTP18, S. CEREVISIAE, HOMOLOG OF; UTP18 Asterisk 612817 KRR1, YEAST, HOMOLOG OF; KRR1 Asterisk 612818 NUCLEOLAR AND SPINDLE-ASSOCIATED PROTEIN 1; NUSAP1 NUCLEOLAR PROTEIN ANKT; ANKT;; NUSAP Asterisk 612819 NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 4, S. CEREVISIAE, HOMOLOG OF; NOC4L NOC4 Asterisk 612820 NEUROPLASTIN; NPTN STROMAL CELL-DERIVED FACTOR RECEPTOR 1; SDFR1 GLYCOPROTEIN, 55-KD, INCLUDED; GP55, INCLUDED;; NEUROPLASTIN 55, INCLUDED; NP55, INCLUDED;; GLYCOPROTEIN, 65-KD, INCLUDED; GP65, INCLUDED;; NEUROPLASTIN 65, INCLUDED; NP65, INCLUDED Asterisk 612821 G PROTEIN-COUPLED RECEPTOR 89A; GPR89A GPR89, CENTROMERIC COPY Asterisk 612822 UTP20, S. CEREVISIAE, HOMOLOG OF; UTP20 DOWNREGULATED IN METASTASIS; DRIM Asterisk 612823 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1D; TAF1D TBP-ASSOCIATED FACTOR, RNA POLYMERASE I, 41-kD; TAFI41;; JOSEPHIN DOMAIN-CONTAINING 3; JOSD3 Asterisk 612824 SEC14-LIKE 3; SEC14L3 SEC14, S. CEREVISIAE, HOMOLOG OF, 3;; TOCOPHEROL-ASSOCIATED PROTEIN 2; TAP2 Asterisk 612825 SEC14-LIKE 4; SEC14L4 SEC14, S. CEREVISIAE, HOMOLOG OF, 4;; TOCOPHEROL-ASSOCIATED PROTEIN 3; TAP3 Asterisk 612826 SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 1; SGPP1 SPP1;; SPPASE1 Asterisk 612827 SPHINGOSINE-1-PHOSPHATE PHOSPHATASE 2; SGPP2 SPHINGOSINE-1-PHOSPHATE PHOSPHOHYDROLASE 2; SPP2 Asterisk 612828 CCAAT/ENHANCER-BINDING PROTEIN, ZETA; CEBPZ CBF;; NUCLEOLAR COMPLEX-ASSOCIATED PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; NOC1 Asterisk 612829 RAS-ASSOCIATED PROTEIN RAB3C; RAB3C Asterisk 612830 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 3; DHRS3 SDR FAMILY, MEMBER 3;; RETSDR1 Asterisk 612831 17-BETA-HYDROXYSTEROID DEHYDROGENASE XI; HSD17B11 17-BETA-HSDXI;; RETSDR2;; PAN1B Asterisk 612832 17-BETA-HYDROXYSTEROID DEHYDROGENASE XIV; HSD17B14 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 10; DHRS10;; SDR FAMILY, MEMBER 10;; RETSDR3 Asterisk 612833 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7; DHRS7 SDR FAMILY, MEMBER 7;; RETSDR4 Asterisk 612834 PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY B, MEMBER 1; PHLDB1 LL5A;; KIAA0638 Asterisk 612835 PHOSPHOLIPASE C, ETA-1; PLCH1 PHOSPHOLIPASE C LIKE-3; PLCL3;; KIAA1069 Asterisk 612836 PHOSPHOLIPASE C, ETA-2; PLCH2 PHOSPHOLIPASE C LIKE-4; PLCL4 Asterisk 612837 COENZYME 9; COQ9 COQ9, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 16 OPEN READING FRAME 49; C16ORF49 Number Sign 612838 BRUGADA SYNDROME 5; BRGDA5 CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED Asterisk 612839 TET ONCOGENE FAMILY, MEMBER 2; TET2 KIAA1546 Number Sign 612840 LEUKOCYTE ADHESION DEFICIENCY, TYPE III; LAD3 LEUKOCYTE ADHESION DEFICIENCY 3;; LEUKOCYTE ADHESION DEFICIENCY 1 VARIANT; LAD1V;; INTEGRIN ACTIVATION DEFICIENCY DISEASE; IADD Percent 612841 HYPOTRICHOSIS 5; HYPT5 MARIE UNNA HEREDITARY HYPOTRICHOSIS 2; MUHH2 Asterisk 612842 RASD FAMILY, MEMBER 2; RASD2 RAS HOMOLOG ENRICHED IN STRIATUM; RHES;; TUMOR ENDOTHELIAL MARKER 2; TEM2 Percent 612843 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT; KFSD Asterisk 612844 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 3; SENP3 SUMO-SPECIFIC PROTEASE 3 Asterisk 612845 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 5; SENP5 SUMO-SPECIFIC PROTEASE 5 Asterisk 612846 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 7; SENP7 SUMO-SPECIFIC PROTEASE 7;; KIAA1707 Number Sign 612847 BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE;; SEMD, PAKISTANI TYPE;; SPONDYLODYSPLASIA AND PREMATURE PUBARCHE Asterisk 612848 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1; SDHAF1 Asterisk 612849 UBIQUITIN-SPECIFIC PEPTIDASE 46; USP46 Asterisk 612850 TUBULIN, BETA-2B; TUBB2B TUBULIN, BETA, CLASS IIB Percent 612851 NARCOLEPSY 5, SUSCEPTIBILITY TO; NRCLP5 Number Sign 612852 OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY; DIRA Percent 612853 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7; RLS7 Asterisk 612854 SEC16, S. CEREVISIAE, HOMOLOG OF, A; SEC16A SEC16L;; p250;; KIAA0310 Asterisk 612855 SEC16, S. CEREVISIAE, HOMOLOG OF, B; SEC16B LEUCINE ZIPPER TRANSCRIPTION REGULATOR 2; LZTR2;; REGUCALCIN GENE PROMOTER REGION-RELATED PROTEIN; RGPR;; SEC16S Asterisk 612856 ASTROTACTIN 2; ASTN2 KIAA0634 Asterisk 612857 PLACENTA-SPECIFIC GENE 9; PLAC9 Percent 612858 OROFACIAL CLEFT 12; OFC12 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 12 Asterisk 612859 T-CELL IMMUNORECEPTOR WITH IMMUNOGLOBULIN AND ITIM DOMAINS; TIGIT Asterisk 612860 QUIESCIN Q6 SULFHYDRYL OXIDASE 2; QSOX2 SULFHYDRYL OXIDASE, NEUROBLASTOMA-DERIVED; SOXN Asterisk 612861 NOP16, S. CEREVISIAE, HOMOLOG OF; NOP16 HSPC111;; HBV PRE-S2 TRANSREGULATED PROTEIN 3 Percent 612862 PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO Number Sign 612863 CHROMOSOME 6q24-q25 DELETION SYNDROME Asterisk 612864 PHOSPHOLIPASE A2, GROUP IVD; PLA2G4D PHOSPHOLIPASE A2 DELTA, CYTOSOLIC;; CPLA2-DELTA Asterisk 612865 PHOSPHATIDYLINOSITOL 4-PHOSPHATE-5-KINASE-LIKE 1; PIP5KL1 PHOSPHATIDYLINOSITOL PHOSPHATE KINASE HOMOLOG; PIPKH Asterisk 612866 ALG14, S. CEREVISIAE, HOMOLOG OF; ALG14 ASPARAGINE-LINKED GLYCOSYLATION 14, S. CEREVISIAE, HOMOLOG OF NULL 612867 CORNEAL DYSTROPHY, SUBEPITHELIAL MUCINOUS; SMCD SUBEPITHELIAL MUCINOUS CORNEAL DYSTROPHY Number Sign 612868 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS; PACD CHROMOSOME 12q21.33 DELETION SYNDROME;; POSTERIOR AMORPHOUS CORNEAL DYSTROPHY Asterisk 612869 ATTRACTIN-LIKE 1; ATRNL1 KIAA0534;; ALP Asterisk 612870 PLECKSTRIN HOMOLOGY DOMAIN-INTERACTING PROTEIN; PHIP DDB1- AND CUL4-ASSOCIATED FACTOR 14; DCAF14 Asterisk 612871 Na+/K+ TRANSPORTING ATPase-INTERACTING 1; NKAIN1 Asterisk 612872 Na+/K+ TRANSPORTING ATPase-INTERACTING 3; NKAIN3 Asterisk 612873 Na+/K+ TRANSPORTING ATPase-INTERACTING 4; NKAIN4 Number Sign 612874 ERYTHROCYTE AMP DEAMINASE DEFICIENCY NULL 612875 GONADOTROPIN-RELEASING HORMONE RECEPTOR 2; GNRHR2 Percent 612876 SPINOCEREBELLAR ATAXIA 9; SCA9 Number Sign 612877 CARDIOMYOPATHY, DILATED, 1BB; CMD1BB Asterisk 612878 EXOPHILIN 5; EXPH5 SYNAPTOTAGMIN-LIKE PROTEIN LACKING C2 DOMAINS B; SLAC2B;; KIAA0624 Asterisk 612879 MAM DOMAIN-CONTAINING PROTEIN 2; MAMDC2 Asterisk 612880 SYNAPTOTAGMIN-LIKE 2; SYTL2 SYNAPTOTAGMIN-LIKE PROTEIN 2; SLP2;; SLP2A;; EXOPHILIN 4; EXO4;; KIAA1597 Number Sign 612881 CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5q DELETION;; PERIVENTRICULAR NODULAR HETEROTOPIA 5; PVNH5 Percent 612882 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENAQ2 Percent 612883 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 3; MENAQ3 Percent 612884 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 2; MENOQ2 Number Sign 612885 PREMATURE OVARIAN FAILURE 10; POF10 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3, INCLUDED; MENOQ3, INCLUDED Percent 612886 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 4; MENOQ4 Asterisk 612887 SEPTIN 11; SEPT11 Asterisk 612888 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8B; LRRC8B T-CELL ACTIVATION LEUCINE REPEAT-RICH PROTEIN; TALRRP;; KIAA0231 Asterisk 612889 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8C; LRRC8C FACTOR FOR ADIPOCYTE DIFFERENTIATION 158; FAD158;; AD158 Asterisk 612890 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8D; LRRC8D LEUCINE-RICH REPEAT-CONTAINING PROTEIN 5; LRRC5 Asterisk 612891 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 8E; LRRC8E Percent 612892 STATURE QUANTITATIVE TRAIT LOCUS 18; STQTL18 Percent 612893 STATURE QUANTITATIVE TRAIT LOCUS 19; STQTL19 Percent 612894 STATURE QUANTITATIVE TRAIT LOCUS 20; STQTL20 Asterisk 612895 NUCLEOREDOXIN; NXN Asterisk 612896 RAD52 MOTIF-CONTAINING PROTEIN 1; RDM1 Asterisk 612897 SEPTIN 1; SEPT1 DIFF6 Asterisk 612898 COENZYME Q4, S. CEREVISIAE, HOMOLOG OF; COQ4 Number Sign 612899 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8; EIG8 Number Sign 612900 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2 Asterisk 612901 TUBULIN, BETA-1; TUBB1 TUBULIN, BETA, CLASS VI Asterisk 612902 LIPOCALIN 8; LCN8 Asterisk 612903 LIPOCALIN 9; LCN9 Asterisk 612904 LIPOCALIN 10; LCN10 Asterisk 612905 LIPOCALIN 12; LCN12 Asterisk 612906 RAS-ASSOCIATED PROTEIN RAB32; RAB32 Asterisk 612907 tRNA NUCLEOTIDYLTRANSFERASE, CCA-ADDING, 1; TRNT1 MITOCHONDRIAL CCA-ADDING tRNA NUCLEOTIDYLTRANSFERASE;; CCA-ADDING tRNA NUCLEOTIDYLTRANSFERASE, MITOCHONDRIAL Number Sign 612908 KERATOSIS PALMOPLANTARIS STRIATA II; PPKS2 KERATODERMA, PALMOPLANTAR, STRIATE FORM II; KPPS2;; STRIATE PALMOPLANTAR KERATODERMA II; SPPK2 Asterisk 612909 RAS-ASSOCIATED PROTEIN RAB6C; RAB6C WTH3 Asterisk 612910 PHD FINGER PROTEIN 23; PHF23 PHF23/NUP98 FUSION GENE, INCLUDED Asterisk 612911 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 3; NDUFAF3 NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 3 Asterisk 612912 TRANSMEMBRANE PROTEIN 97; TMEM97 MAC30 Percent 612913 OROFACIODIGITAL SYNDROME XI; OFD11 OFDS XI;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XI;; ORAL-FACIAL-DIGITAL SYNDROME WITH SKELETAL ANOMALIES;; GABRIELLI SYNDROME Asterisk 612914 MEDIATOR COMPLEX SUBUNIT 29; MED29 INTERSEX, DROSOPHILA, HOMOLOG OF;; INTERSEX-LIKE; IXL Asterisk 612915 MEDIATOR COMPLEX SUBUNIT 20; MED20 TRF-PROXIMAL, DROSOPHILA, HOMOLOG OF; TRFP NULL 612916 ZECHI-CEIDE SYNDROME OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET NULL 612917 GIACHETI SYNDROME MARFANOID HABITUS AND SPECIFIC LANGUAGE AND LEARNING DISABILITIES Number Sign 612918 CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI CLOVE SYNDROME;; CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES;; CLOVES SYNDROME Asterisk 612919 LanC-LIKE 2; LANCL2 TESTIS-SPECIFIC ADRIAMYCIN SENSITIVITY PROTEIN; TASP Asterisk 612920 THROMBOSPONDIN-TYPE LAMININ G DOMAIN AND EAR REPEATS; TSPEAR CHROMOSOME 21 OPEN READING FRAME 29; C21ORF29 Number Sign 612921 THREE M SYNDROME 2; 3M2 3M SYNDROME 2 Number Sign 612922 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2 AHUS, SUSCEPTIBILITY TO, 2 Number Sign 612923 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3; AHUS3 AHUS, SUSCEPTIBILITY TO, 3 Number Sign 612924 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4; AHUS4 AHUS, SUSCEPTIBILITY TO, 4 Number Sign 612925 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5; AHUS5 AHUS, SUSCEPTIBILITY TO, 5 Number Sign 612926 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6; AHUS6 AHUS, SUSCEPTIBILITY TO, 6 Asterisk 612927 AVL9, S. CEREVISIAE, HOMOLOG OF; AVL9 KIAA0241 Asterisk 612928 ISOCHORISMATASE DOMAIN-CONTAINING 2; ISOC2 Percent 612929 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 MTBS3 Asterisk 612930 PHOSPHOTYROSINE INTERACTION DOMAIN-CONTAINING 1; PID1 NYGGF4 Asterisk 612931 PHOSPHOGLYCERATE MUTASE 2; PGAM2 PHOSPHOGLYCERATE MUTASE, MUSCLE; PGAMM Number Sign 612932 GLYCOGEN STORAGE DISEASE XIII; GSD13 GSD XIII;; ENOLASE 3 DEFICIENCY;; ENOLASE-BETA DEFICIENCY Number Sign 612933 GLYCOGEN STORAGE DISEASE XI; GSD11 GSD XI;; LACTATE DEHYDROGENASE A DEFICIENCY Caret 612934 MOVED TO 614921 Asterisk 612935 MYOSIN PHOSPHATASE RHO-INTERACTING PROTEIN; MPRIP MRIP;; KIAA0864;; p116 RHO-INTERACTING PROTEIN; p116RIP;; RIP3 Number Sign 612936 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3, FORMERLY; CPSQ3, FORMERLY Number Sign 612937 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DPM3-RELATED;; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io; CDG1O;; CDG Io; CDGIo;; CDG1(DPM3) Number Sign 612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD Asterisk 612939 HEAT-SHOCK 70-KD PROTEIN-BINDING PROTEIN 1; HSPBP1 HSPA-BINDING PROTEIN 1;; HSP70-BINDING PROTEIN 1 Number Sign 612940 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B CUTIS LAXA WITH PROGEROID FEATURES Asterisk 612941 PRECURSOR mRNA-PROCESSING FACTOR 40, S. CEREVISIAE, HOMOLOG OF, A; PRPF40A PRPF40, S. CEREVISIAE, HOMOLOG OF, A;; HUNTINGTIN-INTERACTING PROTEIN A; HYPA;; FORMIN-BINDING PROTEIN 3; FNBP3;; FBP11, MOUSE, HOMOLOG OF; FBP11 Asterisk 612942 RAS-ASSOCIATED PROTEIN RAB25; RAB25 RAB11C Number Sign 612943 RETINITIS PIGMENTOSA 42; RP42 Asterisk 612944 RIBONUCLEASE T2; RNASET2 RNASE6PL Asterisk 612945 RAS-ASSOCIATED PROTEIN RAB4B; RAB4B Percent 612946 HADZISELIMOVIC SYNDROME MICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME NULL 612947 MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUAL APPEARANCE NULL 612948 STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, MENTAL RETARDATION, AND DYSMORPHIC FEATURES Number Sign 612949 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 HYPOMYELINATION, GLOBAL CEREBRAL;; ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY;; AGC1 DEFICIENCY Percent 612950 PSORIASIS 12, SUSCEPTIBILITY TO; PSORS12 Number Sign 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY Number Sign 612952 AICARDI-GOUTIERES SYNDROME 5; AGS5 Number Sign 612953 PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE; PARK14 DYSTONIA-PARKINSONISM, ADULT-ONSET Number Sign 612954 MYOPATHY, MYOFIBRILLAR, 6; MFM6 Number Sign 612955 LONG QT SYNDROME 12; LQT12 Number Sign 612956 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2; VF2 Percent 612957 VITAMIN B6 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1; B6QTL1 Asterisk 612958 TRANSLATIONAL ACTIVATOR OF MITOCHONDRIALLY ENCODED CYTOCHROME c OXIDASE SUBUNIT I; TACO1 TRANSLATIONAL ACTIVATOR OF COX I;; TRANSLATIONAL ACTIVATOR OF MTCO1;; COILED-COIL DOMAIN-CONTAINING PROTEIN 44; CCDC44 Asterisk 612959 EPITHELIAL SPLICING REGULATORY PROTEIN 1; ESRP1 RNA-BINDING MOTIF PROTEIN 35A; RBM35A Asterisk 612960 EPITHELIAL SPLICING REGULATORY PROTEIN 2; ESRP2 RNA-BINDING MOTIF PROTEIN 35B; RBM35B Number Sign 612961 MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3 Asterisk 612962 DYNACTIN 5; DCTN5 p25 Asterisk 612963 DYNACTIN 6; DCTN6 WS3;; p27 Number Sign 612964 PREMATURE OVARIAN FAILURE 7; POF7 ADRENAL INSUFFICIENCY, NR5A1-RELATED, INCLUDED Number Sign 612965 46,XY SEX REVERSAL 3; SRXY3 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED;; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE;; SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE;; DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED Asterisk 612966 RAS-ASSOCIATED PROTEIN RAB22A; RAB22A Percent 612967 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 15; BMIQ15 Number Sign 612968 CATARACT 34, MULTIPLE TYPES; CTRCT34 CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 3; CATC3 Asterisk 612969 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 7; TIGD7 SANCHO NULL 612970 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 17, PSEUDOGENE; NBPF17P NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 23, PSEUDOGENE; NBPF23P; NBPF23 Asterisk 612971 PDZ DOMAIN-CONTAINING 7; PDZD7 Asterisk 612972 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 1; TIGD1 Asterisk 612973 TIGGER TRANSPOSABLE ELEMENT-DERIVED GENE 2; TIGD2 Asterisk 612974 DEP DOMAIN-CONTAINING PROTEIN 6; DEPDC6 DEP DOMAIN-CONTAINING MTOR-INTERACTING PROTEIN; DEPTOR Number Sign 612975 SHORT SLEEPER SHORT SLEEP PHENOTYPE Percent 612976 AGE-RELATED HEARING IMPAIRMENT 2; ARHI2 PRESBYCUSIS 2 Asterisk 612977 DCN1 DOMAIN-CONTAINING PROTEIN 4; DCUN1D4 KIAA0276 Asterisk 612978 PRECEREBELLIN 3; CBLN3 Asterisk 612979 SYS1 GOLGI-LOCALIZED INTEGRAL MEMBRANE PROTEIN, S. CEREVISIAE, HOMOLOG OF; SYS1 Asterisk 612980 IMP3, S. CEREVISIAE, HOMOLOG OF; IMP3 MITOCHONDRIAL RIBOSOMAL SUBUNIT COMPONENT; MRPS4;; BRMS2 Asterisk 612981 IMP4, S. CEREVISIAE, HOMOLOG OF; IMP4 BXDC4 Asterisk 612982 MICRO RNA 210; MIR210 miRNA210;; MIRN210 Asterisk 612983 MICRO RNA 106B; MIR106B miRNA106B;; MIRN106B Asterisk 612984 MICRO RNA 93; MIR93 miRNA93;; MIRN93 Asterisk 612985 IROQUOIS HOMEOBOX PROTEIN 3; IRX3 IRXB1 Asterisk 612986 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 3; EID3 E1A-LIKE INHIBITOR OF DIFFERENTIATION 3;; NON-SMC ELEMENT 4, S. CEREVISIAE, HOMOLOG OF, B; NSMCE4B;; NSE4B Asterisk 612987 NON-SMC ELEMENT 4, S. CEREVISIAE, HOMOLOG OF, A; NSMCE4A NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 4 HOMOLOG A;; NSE4 HOMOLOG A, SMC5-SMC6 COMPLEX COMPONENT; NSE4A;; C10ORF86 Asterisk 612988 TRANSMEMBRANE PROTEIN 126A; TMEM126A Number Sign 612989 OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY; OPA7 Asterisk 612990 ADDITIONAL SEX COMBS-LIKE 1; ASXL1 KIAA0978 Asterisk 612991 ADDITIONAL SEX COMBS-LIKE 2; ASXL2 KIAA1685 Asterisk 612992 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 3; NBPF3 Asterisk 612993 FILAMIN A-INTERACTING PROTEIN 1-LIKE; FILIP1L Asterisk 612994 RAS-ASSOCIATED PROTEIN 28; RAB28 Asterisk 612995 TRANSFER RNA VALINE (CAC) 1-2; TRV-CAC1-2 TRANSFER RNA VALINE 2; TRNAV2;; tRNA VALINE 2; TRV2 Asterisk 612996 TRANSFER RNA LYSINE (CTT) 2-4; TRK-CTT2-4 TRANSFER RNA LYSINE 2; TRNAK2;; tRNA LYSINE 2; TRK2 Number Sign 612997 SPERMATOGENIC FAILURE 7; SPGF7 MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE; MIAR Number Sign 612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES Number Sign 612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5 Number Sign 613000 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1; FNEPPK1 PPKFNE;; FOCAL NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA;; KERATODERMA, FOCAL NONEPIDERMOLYTIC PALMOPLANTAR Number Sign 613001 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Number Sign 613002 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 Number Sign 613003 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 ADHD7 Asterisk 613004 HUNTINGTIN; HTT IT15;; HD GENE NULL 613005 SANTOS SYNDROME FIBULAR AGENESIS/HYPOPLASIA, OLIGODACTYLOUS CLUBFEET, AND ANONYCHIA/NAIL HYPOPLASIA SYNDROME Percent 613006 DIABETES MELLITUS, INSULIN-DEPENDENT, 24; IDDM24 Percent 613007 BILIARY CIRRHOSIS, PRIMARY, 2; PBC2 Percent 613008 BILIARY CIRRHOSIS, PRIMARY, 3; PBC3 Asterisk 613009 O-PHOSPHOSERINE tRNA-SELENOCYSTEINE tRNA SYNTHASE; SEPSECS SOLUBLE LIVER ANTIGEN; SLA;; LIVER PANCREAS ANTIGEN; LP Asterisk 613010 RIBOFLAVIN KINASE; RFK FLAVOKINASE Number Sign 613011 LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 Asterisk 613012 UROCANASE DOMAIN-CONTAINING PROTEIN 1; UROC1 UROCANASE Number Sign 613013 NEUROBLASTOMA, SUSCEPTIBILITY TO, 2; NBLST2 NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, INCLUDED Number Sign 613014 NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3 Percent 613015 NEUROBLASTOMA, SUSCEPTIBILITY TO, 4; NBLST4 Percent 613016 NEUROBLASTOMA, SUSCEPTIBILITY TO, 5; NBLST5 Percent 613017 NEUROBLASTOMA, SUSCEPTIBILITY TO, 6; NBLST6 Asterisk 613018 TYROSINE AMINOTRANSFERASE; TAT TAT, SOLUBLE Asterisk 613019 SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SDHAF2 SUCCINATE DEHYDROGENASE 5; SDH5 Caret 613020 MOVED TO 116600 Number Sign 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2 CYSTIC FIBROSIS-LIKE SYNDROME Asterisk 613022 OXOGLUTARATE DEHYDROGENASE; OGDH ALPHA-KETOGLUTARATE DEHYDROGENASE; AKGDH;; E1K Asterisk 613023 CENTROSOMAL PROTEIN, 170-KD; CEP170 KIAA0470 Percent 613024 FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1; FL1 Percent 613025 SCHIZOPHRENIA 13; SCZD13 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q13-q14-RELATED Number Sign 613026 CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL Number Sign 613027 GLYCOGEN STORAGE DISEASE IXc; GSD9C GSD IXc Number Sign 613028 GLIOMA SUSCEPTIBILITY 2; GLM2 Number Sign 613029 GLIOMA SUSCEPTIBILITY 3; GLM3 Percent 613030 GLIOMA SUSCEPTIBILITY 5; GLM5 Percent 613031 GLIOMA SUSCEPTIBILITY 6; GLM6 Percent 613032 GLIOMA SUSCEPTIBILITY 7; GLM7 Percent 613033 GLIOMA SUSCEPTIBILITY 8; GLM8 Caret 613034 MOVED TO 612541 Percent 613035 HEARING LOSS, NOISE-INDUCED, SUSCEPTIBILITY TO; NIHL Asterisk 613036 PEPTIDASE, MITOCHONDRIAL PROCESSING, ALPHA; PMPCA MITOCHONDRIAL PROCESSING PEPTIDASE-ALPHA;; KIAA0123 Asterisk 613037 INOSITOL POLYPHOSPHATE-5-PHOSPHATASE, 72-KD; INPP5E Number Sign 613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 Asterisk 613039 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1-LIKE; CHD1L AMPLIFIED IN LIVER CANCER 1; ALC1 Asterisk 613040 COILED-COIL DOMAIN-CONTAINING PROTEIN 26; CCDC26 RETINOIC ACID MODULATOR; RAM Asterisk 613041 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A1; FAM90A1 Asterisk 613042 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A3; FAM90A3 FAM90A COPY 2 Asterisk 613043 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A5; FAM90A5 FAM90A COPY 5 Asterisk 613044 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A7; FAM90A7 FAM90A COPY 8 Asterisk 613045 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A8; FAM90A8 FAM90A COPY 15 Asterisk 613046 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A9; FAM90A9 FAM90A COPY 18 Asterisk 613047 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A10; FAM90A10 FAM90A COPY 19 Asterisk 613048 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A12; FAM90A12 FAM90A COPY 22 Asterisk 613049 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A13; FAM90A13 FAM90A COPY 4 Asterisk 613050 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A14; FAM90A14 FAM90A COPY 12 Asterisk 613051 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A15; FAM90A15 FAM90A COPY 1 Asterisk 613052 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A18; FAM90A18 FAM90A COPY 13 Asterisk 613053 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A19; FAM90A19 FAM90A COPY 17 Asterisk 613054 FAMILY WITH SEQUENCE SIMILARITY 90, MEMBER A20; FAM90A20 FAM90A COPY 6 Percent 613055 ATRIAL FIBRILLATION, FAMILIAL, 8; ATFB8 Asterisk 613056 LUC7, S. CEREVISIAE, HOMOLOG OF, 2; LUC7L2 LUC7-LIKE 2 Asterisk 613057 MICRO RNA 26A2; MIR26A2 miRNA26A2;; MIRN26A2 Percent 613058 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 2; BCC2 Percent 613059 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 3; BCC3 Number Sign 613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO, INCLUDED; GEFS5, INCLUDED;; GEFS+, TYPE 5, SUSCEPTIBILITY TO, INCLUDED;; GEFS+5, SUSCEPTIBILITY TO, INCLUDED;; GEFSP5, SUSCEPTIBILITY TO, INCLUDED;; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED; EJM7, INCLUDED Percent 613061 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 4; BCC4 Percent 613062 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 5; BCC5 Percent 613063 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 6; BCC6 Percent 613064 DERMATITIS, ATOPIC, 7; ATOD7 Percent 613065 LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 1, INCLUDED;; ALL1, INCLUDED;; LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1, INCLUDED;; LEUKEMIA, B-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED;; LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, INCLUDED;; LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO, INCLUDED Asterisk 613066 PBX/KNOTTED 1 HOMEOBOX 2; PKNOX2 PBX-REGULATING PROTEIN 2; PREP2 Percent 613067 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2; ALL2 LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 2 Number Sign 613068 NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY Asterisk 613069 PHD FINGER PROTEIN 10; PHF10 BRG1-ASSOCIATED FACTOR, 45-KD, A; BAF45A Number Sign 613070 LIVER FAILURE, INFANTILE, TRANSIENT; LFIT Number Sign 613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3 CYSTIC FIBROSIS-LIKE SYNDROME Asterisk 613072 LIPOXYGENASE HOMOLOGY DOMAIN-CONTAINING 1; LOXHD1 Number Sign 613073 METAPHYSEAL ANADYSPLASIA 2; MANDP2 Number Sign 613074 DEAFNESS, AUTOSOMAL DOMINANT 50; DFNA50 Number Sign 613075 MACS SYNDROME MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS;; TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS Number Sign 613076 MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY MYOPATHY WITH CATARACT AND COMBINED RESPIRATORY CHAIN DEFICIENCY;; MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED Number Sign 613077 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 Number Sign 613078 NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD NBS-LIKE DISORDER;; RAD50 DEFICIENCY;; MICROCEPHALY AND SPONTANEOUS CHROMOSOME INSTABILITY WITHOUT IMMUNODEFICIENCY Number Sign 613079 DEAFNESS, AUTOSOMAL RECESSIVE 77; DFNB77 Number Sign 613080 46,XY SEX REVERSAL 5; SRXY5 46,XY SEX REVERSAL, CBX2-RELATED;; 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED;; SEX REVERSAL, XY, CBX2-RELATED;; DISORDER OF SEX DEVELOPMENT, 46,XY, CBX2-RELATED Asterisk 613081 LYSINE-SPECIFIC DEMETHYLASE 1B; KDM1B LYSINE-SPECIFIC DEMETHYLASE 2; LSD2;; AMINE OXIDASE, FLAVIN-CONTAINING, 1; AOF1 Asterisk 613082 ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 2; ATP2C2 SECRETORY PATHWAY Ca(2+) ATPase 2; SPCA2;; KIAA0703 Asterisk 613083 LISTERIN E3 UBIQUITIN PROTEIN LIGASE 1; LTN1 LISTERIN, MOUSE, HOMOLOG OF;; RING FINGER PROTEIN 160; RNF160;; KIAA0714 Asterisk 613084 MYELIN TRANSCRIPTION FACTOR 1-LIKE; MYT1L KIAA1106 Percent 613085 GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C Number Sign 613086 GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D Number Sign 613087 ATRIAL SEPTAL DEFECT 6; ASD6 Percent 613088 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2 PVOP2 Number Sign 613089 CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH CLAPO;; LOPEZ-GUTIERREZ SYNDROME Number Sign 613090 BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B Number Sign 613091 SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 ASPHYXIATING THORACIC DYSTROPHY 3; ATD3;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE I; SRPS1;; SALDINO-NOONAN SYNDROME;; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE I;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE III; SRPS3;; VERMA-NAUMOFF SYNDROME;; POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE III;; SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB; SRPS2B Number Sign 613092 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2 EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE Number Sign 613093 CONE DYSTROPHY 4; COD4 ACHROMATOPSIA 5, INCLUDED; ACHM5, INCLUDED Number Sign 613094 MICROPHTHALMIA, ISOLATED 4; MCOP4 Number Sign 613095 POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE II; APKD2 Percent 613096 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36 Caret 613097 MOVED TO 601216 Number Sign 613098 INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC Number Sign 613099 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5 Number Sign 613100 GLAUCOMA 1, OPEN ANGLE, O; GLC1O Number Sign 613101 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 Number Sign 613102 HYPOTRICHOSIS AND RECURRENT SKIN VESICLES Asterisk 613103 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 4; SRRM4 NEURAL-SPECIFIC SR-RELATED PROTEIN, 100-KD; NSR100;; KIAA1853 Asterisk 613104 CALCIUM CHANNEL FLOWER-DOMAIN CONTAINING PROTEIN 1; CACFD1 FLOWER, DROSOPHILA, HOMOLOG OF; FLOWER;; CHROMOSOME 9 OPEN READING FRAME 7; C9ORF7 Number Sign 613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2 MACULAR DYSTROPHY, PROGRESSIVE Percent 613106 VERTIGO, BENIGN RECURRENT, 2; BRV2 Number Sign 613107 NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 Number Sign 613108 CANDIDIASIS, FAMILIAL, 4; CANDF4 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS Asterisk 613109 GM2 ACTIVATOR; GM2A Asterisk 613110 BLADDER CANCER-ASSOCIATED PROTEIN; BLCAP BLADDER CANCER-ASSOCIATED, 10-KD; BC10 Asterisk 613111 CATHEPSIN A; CTSA CATHA;; BETA-GALACTOSIDASE PROTECTIVE PROTEIN; PPGB;; PROTECTIVE PROTEIN/CATHEPSIN A; PPCA;; CARBOXYPEPTIDASE L;; BETA-GALACTOSIDASE 2; GLB2 Number Sign 613112 MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED Asterisk 613113 NEUROFIBROMIN 1; NF1 NEUROFIBROMIN Asterisk 613114 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER B; FAM134B JK1 Number Sign 613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B Number Sign 613116 THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY; THPH11 THROMBOPHILIA DUE TO ELEVATED HISTIDINE-RICH GLYCOPROTEIN, INCLUDED Asterisk 613117 SMALL NUCLEOLAR RNA, C/D BOX, 50A; SNORD50A RNA, U50 SMALL NUCLEOLAR; RNU50;; snoRNA, U50 Number Sign 613118 ANTITHROMBIN III DEFICIENCY; AT3D THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY; THPH7 Number Sign 613119 BRUGADA SYNDROME 6; BRGDA6 Number Sign 613120 BRUGADA SYNDROME 7; BRGDA7 ATRIAL FIBRILLATION, FAMILIAL, 16, INCLUDED; ATFB16, INCLUDED Asterisk 613121 NEXILIN F-ACTIN-BINDING PROTEIN; NEXN NEXILIN, RAT, HOMOLOG OF;; NEXILIN-LIKE PROTEIN; NELIN Number Sign 613122 CARDIOMYOPATHY, DILATED, 1CC; CMD1CC Number Sign 613123 BRUGADA SYNDROME 8; BRGDA8 NULL 613124 HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES Asterisk 613125 NUCLEAR RECEPTOR-INTERACTING PROTEIN 3; NRIP3 Asterisk 613126 PROLINE/SERINE-RICH COILED-COIL PROTEIN 1; PSRC1 DDA3, MOUSE, HOMOLOG OF; DDA3 Asterisk 613127 CHORDIN-LIKE 2; CHRDL2 CHL2;; BREAST TUMOR NOVEL FACTOR 1; BNF1 Asterisk 613128 STN1, CST COMPLEX SUBUNIT; STN1 STN1, S. POMBE, HOMOLOG OF; STN1 ALPHA ACCESSORY FACTOR, 44-KD SUBUNIT; AAF44;; OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 1; OBFC1 Asterisk 613129 CONSERVED TELOMERE MAINTENANCE COMPONENT 1; CTC1 ALPHA ACCESSORY FACTOR, 132-KD SUBUNIT; AAF132;; CHROMOSOME 17 OPEN READING FRAME 68; C17ORF68 Asterisk 613130 TEN1, CST COMPLEX SUBUNIT; TEN1 TEN1, S. POMBE, HOMOLOG OF;; CHROMOSOME 17 OPEN READING FRAME 106; C17ORF106 Asterisk 613131 MICRO RNA 449A; MIR449A miRNA449A;; MIRN449A Asterisk 613132 MICRO RNA 449B; MIR449B miRNA449B;; MIRN449B Asterisk 613133 TETRASPANIN 2; TSPAN2 NEW EST TETRASPAN 3; NET3 Asterisk 613134 TETRASPANIN 3; TSPAN3 Number Sign 613135 PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1 PKDYS;; DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS Asterisk 613136 TETRASPANIN 5; TSPAN5 NEW EST TETRASPAN 4; NET4 Asterisk 613137 TETRASPANIN 9; TSPAN9 NEW EST TETRASPAN 5; NET5 Asterisk 613138 TETRASPANIN 12; TSPAN12 NEW EST TETRASPAN 2; NET2 Asterisk 613139 TETRASPANIN 13; TSPAN13 NEW EST TETRASPAN 6; NET6 Asterisk 613140 TETRASPANIN 15; TSPAN15 NEW EST TETRASPAN 7; NET7 Asterisk 613141 DELTEX, DROSOPHILA, HOMOLOG OF, 2; DTX2 KIAA1528 Asterisk 613142 DELTEX, DROSOPHILA, HOMOLOG OF, 3; DTX3 Asterisk 613143 DTX3-LIKE; DTX3L B LYMPHOMA- AND BAL-ASSOCIATED PROTEIN; BBAP Percent 613144 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3; CACD3 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, WITH OR WITHOUT DRUSEN Percent 613145 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14; SLEB14 Asterisk 613146 MICRO RNA 184; MIR184 miRNA184;; MIRN184 MICRO RNA 184*, INCLUDED; MIR184*, INCLUDED Asterisk 613147 MICRO RNA 205; MIR205 miRNA205;; MIRN205 Number Sign 613148 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 INFLAMMATORY BOWEL DISEASE, EARLY-ONSET, AUTOSOMAL RECESSIVE Asterisk 613149 CDKN2B ANTISENSE RNA; CDKN2BAS ANTISENSE NONCODING RNA IN THE INK4 LOCUS; ANRIL Number Sign 613150 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED Number Sign 613151 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3 MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED Number Sign 613152 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED Number Sign 613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED Number Sign 613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED Number Sign 613155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED Number Sign 613156 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED Number Sign 613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 15; LGMDR15;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O; LGMD2O;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED Number Sign 613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 14; LGMDR14;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2N; LGMD2N;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED Number Sign 613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1 Asterisk 613160 VON WILLEBRAND FACTOR; VWF FACTOR VIII-VON WILLEBRAND FACTOR; F8VWF Number Sign 613161 BETA-UREIDOPROPIONASE DEFICIENCY; UPB1D Number Sign 613162 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45 Number Sign 613163 GABA-TRANSAMINASE DEFICIENCY Percent 613164 PARKINSON DISEASE 16; PARK16 Asterisk 613165 CALCIUM-ACTIVATED NUCLEOTIDASE 1; CANT1 SOLUBLE CALCIUM-ACTIVATED NUCLEOTIDASE 1; SCAN1 Asterisk 613166 DOUBLECORTIN-LIKE KINASE 2; DCLK2 DCK2;; CAMK-LIKE CREB REGULATORY KINASE 2; CLICK2; CL2 Asterisk 613167 DOUBLECORTIN-LIKE KINASE 3; DCLK3 DCK3;; CLICK-RELATED PROTEIN; CLR Asterisk 613168 SERPIN PEPTIDASE INHIBITOR, CLADE F, MEMBER 2; SERPINF2 ALPHA-2-PLASMIN INHIBITOR; PLI;; ALPHA-2-ANTIPLASMIN; AAP Asterisk 613169 KELCH DOMAIN-CONTAINING PROTEIN 8B; KLHDC8B Asterisk 613170 TETRASPANIN 1; TSPAN1 NEW EST TETRASPAN 1; NET1 Asterisk 613171 RNA-BINDING MOTIF PROTEIN 20; RBM20 Number Sign 613172 CARDIOMYOPATHY, DILATED, 1DD; CMD1DD Asterisk 613173 NEURONAL GROWTH REGULATOR 1; NEGR1 KINDRED OF IgLON: KILON Number Sign 613174 CHROMOSOME 5p13 DUPLICATION SYNDROME Asterisk 613175 SMG8 NONSENSE MEDIATED mRNA DECAY FACTOR; SMG8 CHROMOSOME 17 OPEN READING FRAME 71; C17ORF71 Asterisk 613176 SMG9 NONSENSE-MEDIATED mRNA DECAY FACTOR; SMG9 CHROMOSOME 19 OPEN READING FRAME 61; C19ORF61 Number Sign 613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES;; URBAN-RIFKIN-DAVIS SYNDROME; URDS Asterisk 613178 KIAA0427 GENE; KIAA0427 CBP80/CBP20-DEPENDENT TRANSLATION INITIATION FACTOR; CTIF Number Sign 613179 PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Number Sign 613180 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 8; CDCBM8 POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Asterisk 613181 BolA, E. COLI, HOMOLOG OF, 1; BOLA1 Asterisk 613182 BolA, E. COLI, HOMOLOG OF, 2; BOLA2 Asterisk 613183 BolA, E. COLI, HOMOLOG OF, 3; BOLA3 Asterisk 613184 TRIPARTITE MOTIF-CONTAINING PROTEIN 68; TRIM68 SS56;; GC109 Asterisk 613185 MICRO RNA 95; MIR95 miRNA95;; MIRN95 Asterisk 613186 MICRO RNA 100; MIR100 miRNA100;; MIRN100 Asterisk 613187 MICRO RNA 103-1; MIR103-1 miRNA103-1;; MIRN103-1 Asterisk 613188 MICRO RNA 103-2; MIR103-2 miRNA103-2;; MIRN103-2 Asterisk 613189 MICRO RNA 107; MIR107 miRNA107;; MIRN107 Asterisk 613190 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 1; DNAAF1 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 50; LRRC50;; ODA7, CHLAMYDOMONAS, HOMOLOG OF; ODA7 Asterisk 613191 DUAL-SPECIFICITY PHOSPHATASE 13; DUSP13 TESTIS- AND SKELETAL MUSCLE-SPECIFIC DUAL-SPECIFICITY PHOSPHATASE, INCLUDED; TMDP, INCLUDED;; MUSCLE-RESTRICTED DUAL-SPECIFICITY PHOSPHATASE, INCLUDED; MDSP, INCLUDED Number Sign 613192 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13 Number Sign 613193 CILIARY DYSKINESIA, PRIMARY, 13; CILD13 CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS Number Sign 613194 RETINITIS PIGMENTOSA 50; RP50 RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED Number Sign 613195 WEILL-MARCHESANI SYNDROME 4; WMS4 WEILL-MARCHESANI-LIKE SYNDROME; WMSL Asterisk 613196 EWING TUMOR-ASSOCIATED ANTIGEN 1; ETAA1 ETAA16 Asterisk 613197 TRAF-TYPE ZINC FINGER DOMAIN-CONTAINING 1; TRAFD1 FLN29 Asterisk 613198 SUPPRESSOR OF VARIEGATION 4-20, DROSOPHILA, HOMOLOG OF, 2; SUV420H2 Asterisk 613199 TAO KINASE 2; TAOK2 TAO2;; KIAA0881;; PROSTATE-DERIVED STE20-LIKE KINASE; PSK;; PSK1;; PSK1-ALPHA;; PSK1-BETA Asterisk 613200 PDS5, REGULATOR OF COHESION MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, A; PDS5A KIAA0648;; SCC112 Asterisk 613201 CHROMOSOME TRANSMISSION FIDELITY FACTOR 18, S. CEREVISIAE, HOMOLOG OF; CHTF18 CHL12, YEAST, HOMOLOG OF; CHL12;; CTF18 Asterisk 613202 CHROMOSOME TRANSMISSION FIDELITY FACTOR 8, S. CEREVISIAE, HOMOLOG OF; CHTF8 CTF8 Asterisk 613203 DEFECTIVE IN SISTER CHROMATID COHESION 1, S. CEREVISIAE, HOMOLOG OF; DSCC1 DCC1 Number Sign 613204 MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY Number Sign 613205 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED MDCL Number Sign 613206 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 Percent 613207 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8; ASRT8 RHINOCONJUNCTIVITIS, SUSCEPTIBILITY TO, INCLUDED Asterisk 613208 XPC GENE; XPC XPCC GENE;; RAD4, YEAST, HOMOLOG OF; RAD4 Asterisk 613209 TRANSMEMBRANE PROTEIN 181; TMEM181 G PROTEIN-COUPLED RECEPTOR 178; GPR178;; KIAA1423 Asterisk 613210 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 7; DPH7 DPH7, S. CEREVISIAE, HOMOLOG OF;; WD REPEAT-CONTAINING PROTEIN 85; WDR85 Number Sign 613211 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3; AI2A3 Asterisk 613212 ALANYL-tRNA SYNTHETASE DOMAIN-CONTAINING 1; AARSD1 Asterisk 613213 CYTOCHROME b5 REDUCTASE 3; CYB5R3 B5R;; NADH-DIAPHORASE 1; DIA1 Asterisk 613214 WD REPEAT-CONTAINING PROTEIN 72; WDR72 Number Sign 613215 CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME Number Sign 613216 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C CSNB, COMPLETE, AUTOSOMAL RECESSIVE Number Sign 613217 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5 ENTEROPATHY, CONGENITAL TUFTING; CTE;; INTESTINAL EPITHELIAL CELL DYSPLASIA Asterisk 613218 CYTOCHROME b5, TYPE A (MICROSOMAL); CYB5A CYTOCHROME b5; CYB5;; MICROSOMAL CYTOCHROME b5; MCB5 Percent 613219 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 2; FGQTL2 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 1, INCLUDED; BWQTL1, INCLUDED Asterisk 613220 TRANSMEMBRANE PROTEIN 18; TMEM18 Asterisk 613221 MITOCHONDRIAL CARRIER HOMOLOG 2; MTCH2 MET-INDUCED MITOCHONDRIAL PROTEIN; MIMP Asterisk 613222 GLUCOSAMINE-6-PHOSPHATE DEAMINASE 2; GNPDA2 GNP2 Number Sign 613223 LEPROSY, SUSCEPTIBILITY TO, 5; LPRS5 LEPROSY, PROTECTION AGAINST, INCLUDED Number Sign 613224 NOONAN SYNDROME 6; NS6 Number Sign 613225 FACTOR XIII, A SUBUNIT, DEFICIENCY OF Asterisk 613226 ZINC FINGER PROTEIN 296; ZNF296 ZFP296;; ZNF342 Number Sign 613227 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 Asterisk 613228 ASPARTYLGLUCOSAMINIDASE; AGA GLYCOSYLASPARAGINASE Number Sign 613229 TRICHOTILLOMANIA; TTM Asterisk 613230 PEPTIDASE D; PEPD PROLIDASE;; IMIDODIPEPTIDASE Asterisk 613231 KINESIN FAMILY MEMBER 26A; KIF26A KIAA1236 Asterisk 613232 RNA-BINDING MOTIF PROTEIN 42; RBM42 Percent 613233 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 3; FGQTL3 Asterisk 613234 NEUTRAL CHOLESTEROL ESTER HYDROLASE 1; NCEH1 NCEH;; KIAA1363 Number Sign 613235 FACTOR XIII, B SUBUNIT, DEFICIENCY OF Asterisk 613236 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 18; KCNJ18 KIR2.6 Number Sign 613237 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 5 Percent 613238 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3; SPDA3 Number Sign 613239 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2; TTPP2 Asterisk 613240 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1C; PPP1R1C PROTEIN PHOSPHATASE 1 INHIBITOR 5; IPP5 NULL 613241 PSEUDOPILI ANNULATI Asterisk 613242 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14C; PPP1R14C KINASE-ENHANCED PROTEIN PHOSPHATASE 1 INHIBITOR; KEPI Number Sign 613243 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13 Number Sign 613244 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8; HNPCC8 Asterisk 613245 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12C; PPP1R12C MYOSIN-BINDING SUBUNIT, 85-KD; MBS85 Asterisk 613246 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1A; PPP1R1A PROTEIN PHOSPHATASE 1 INHIBITOR 1; IPP1;; INHIBITOR 1; I1 Asterisk 613247 PERILIPIN 4; PLIN4 S3-12;; KIAA1881 Asterisk 613248 PERILIPIN 5; PLIN5 LIPID STORAGE DROPLET PROTEIN 5; LSDP5 Asterisk 613249 ENDOGENOUS BORNA-LIKE N ELEMENT-CONTAINING PROTEIN 1; EBLN1 Asterisk 613250 ENDOGENOUS BORNA-LIKE N ELEMENT-CONTAINING PROTEIN 2; EBLN2 Number Sign 613251 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14; CMH14 Number Sign 613252 CARDIOMYOPATHY, DILATED, 1EE; CMD1EE Caret 613253 MOVED TO 603046 Number Sign 613254 TUBEROUS SCLEROSIS 2; TSC2 TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED Number Sign 613255 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15; CMH15 Asterisk 613256 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 14D; PPP1R14D GUT AND BRAIN PHOSPHATASE INHIBITOR 1; GBPI1 Asterisk 613257 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 15B; PPP1R15B CREP Asterisk 613258 CHROMOSOME 18 OPEN READING FRAME 54; C18ORF54 LAS2, MOUSE, HOMOLOG OF; LAS2 Asterisk 613259 REPETIN; RPTN Asterisk 613260 KERATINOCYTE PROLINE-RICH PROTEIN; KPRP Asterisk 613261 PROTOGENIN, CHICKEN, HOMOLOG OF; PRTG Asterisk 613262 RIBOSOMAL PROTEIN L24 DOMAIN-CONTAINING PROTEIN 1; RSL24D1 RPL24 DOMAIN-CONTAINING PROTEIN 1;; RLP24, YEAST, HOMOLOG OF; RLP24 Asterisk 613263 SMALL NUCLEOLAR RNA HOST GENE 5; SNHG5 U50 HOST GENE; U50HG Asterisk 613264 SMALL NUCLEOLAR RNA, C/D BOX; SNORD50B snoRNA, U50-PRIME Number Sign 613265 WAARDENBURG SYNDROME, TYPE 4B; WS4B WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE;; WAARDENBURG SYNDROME, TYPE IVB Number Sign 613266 WAARDENBURG SYNDROME, TYPE 4C; WS4C WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C;; WAARDENBURG SYNDROME, TYPE IVC Number Sign 613267 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 FCD2 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET Number Sign 613268 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET Percent 613269 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 5; FECD5 FCD3 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET Number Sign 613270 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET Percent 613271 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 7; FECD7 FCD4 LOCUS;; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET Asterisk 613272 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3; KCTD3 NY-REN-45 Asterisk 613273 INST3- AND NABP-INTERACTING PROTEIN; INIP CHROMOSOME 9 OPEN READING FRAME 80; C9ORF80;; SENSOR OF SINGLE-STRANDED DNA COMPLEX, SUBUNIT C; SOSSC;; SOSS COMPLEX, SUBUNIT C Asterisk 613274 MOLYBDENUM COFACTOR SULFURASE; MOCOS MCS;; HMCS Asterisk 613275 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 16B; PPP1R16B TRANSFORMING GROWTH FACTOR-BETA-INHIBITED MEMBRANE-ASSOCIATED PROTEIN; TIMAP;; TGFB-INHIBITED MEMBRANE-ASSOCIATED PROTEIN;; KIAA0823 Asterisk 613276 U6 SMALL NUCLEAR RNA BIOGENESIS PHOSPHODIESTERASE 1; USB1 U6 snRNA BIOGENESIS PHOSPHODIESTERASE 1;; CHROMOSOME 16 OPEN READING FRAME 57; C16ORF57 Asterisk 613277 TRANSMEMBRANE PROTEIN 216; TMEM216 Asterisk 613278 SLX4, S. CEREVISIAE, HOMOLOG OF; SLX4 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT SLX4;; BTB/POZ DOMAIN-CONTAINING PROTEIN 12; BTBD12;; MUS312, DROSOPHILA, HOMOLOG OF; MUS312;; KIAA1784;; KIAA1987 Asterisk 613279 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 14: ZC3H14 SUPPRESSOR OF TAU 2, C. ELEGANS, HOMOLOG OF; SUT2;; NY-REN-37 Number Sign 613280 HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1 HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC Asterisk 613281 SORTING NEXIN 20; SNX20 SELECTIN LIGAND INTERACTOR CYTOPLASMIC 1; SLIC1 Percent 613282 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1; NAFLD1 LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1, INCLUDED Asterisk 613283 GLUTAREDOXIN, CYSTEINE-RICH, 1; GRXCR1 Percent 613284 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HCHGQ3 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 22 Number Sign 613285 DEAFNESS, AUTOSOMAL RECESSIVE 25; DFNB25 Number Sign 613286 CARDIOMYOPATHY, DILATED, 1FF; CMD1FF Number Sign 613287 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N; CMT2N CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N Asterisk 613288 TRIPARTITE MOTIF-CONTAINING PROTEIN 72; TRIM72 MITSUGUMIN, 53-KD; MG53 Asterisk 613289 ATAXIN 8; ATXN8 Percent 613290 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO; CIHL Number Sign 613291 BILE ACID MALABSORPTION, PRIMARY; PBAM Asterisk 613292 DENN/MADD DOMAIN-CONTAINING PROTEIN 1B; DENND1B CONNECDENN 2;; FAMILY WITH SEQUENCE SIMILARITY 31, MEMBER B; FAM31B;; CHROMOSOME 1 OPEN READING FRAME 18; C1ORF18 Asterisk 613293 SH3 AND PX DOMAINS-CONTAINING PROTEIN 2B; SH3PXD2B TYROSINE KINASE SUBSTRATE WITH 4 SH3 DOMAINS; TKS4;; KIAA1295 Asterisk 613294 SUMO1-ACTIVATING ENZYME, SUBUNIT 1; SAE1 SUA1;; ACTIVATOR OF SUMO1, S. CEREVISIAE, HOMOLOG OF; AOS1 Asterisk 613295 UBIQUITIN-LIKE MODIFIER-ACTIVATING ENZYME 2; UBA2 UBA2, S. CEREVISIAE, HOMOLOG OF;; SUMO1-ACTIVATING ENZYME, SUBUNIT 2; SAE2 Asterisk 613296 LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 4, BETA; LAPTM4B LYSOSOME-ASSOCIATED TRANSMEMBRANE PROTEIN 4, BETA Asterisk 613297 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 6; MARCHF6 MARCH VI; MARCH6;; TEB4;; DOA10, S. CEREVISIAE, HOMOLOG OF; DOA10;; KIAA0597 Asterisk 613298 TOPBP1-INTERACTING CHECKPOINT AND REPLICATION REGULATOR; TICRR CHROMOSOME 15 OPEN READING FRAME 42; C15ORF42;; TRESLIN;; SLD3, YEAST, HOMOLOG OF Asterisk 613299 FAMILY WITH SEQUENCE SIMILARITY 13, MEMBER A; FAM13A FAM13A1;; KIAA0914 Asterisk 613300 FAM13A OPPOSITE STRAND; FAM13AOS FAM13A1OS Asterisk 613301 FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1 FOREBRAIN EMBRYONIC ZINC FINGER; FEZ;; ZINC FINGER PROTEIN 312B; ZNF312B Asterisk 613302 AlkB, E. COLI, HOMOLOG OF, 4; ALKBH4 ABH4 Asterisk 613303 AlkB, E. COLI, HOMOLOG OF, 5; ALKBH5 ABH5 Asterisk 613304 AlkB, E. COLI, HOMOLOG OF, 6; ALKBH6 ABH6 Asterisk 613305 AlkB, E. COLI, HOMOLOG OF, 7; ALKBH7 ABH7 Asterisk 613306 AlkB, E. COLI, HOMOLOG OF, 8; ALKBH8 ABH8 Number Sign 613307 DEAFNESS, AUTOSOMAL RECESSIVE 79; DFNB79 Number Sign 613308 DIAMOND-BLACKFAN ANEMIA 9; DBA9 Number Sign 613309 DIAMOND-BLACKFAN ANEMIA 10; DBA10 Number Sign 613310 EXUDATIVE VITREORETINOPATHY 5; EVR5 Asterisk 613311 LYR MOTIF-CONTAINING PROTEIN 4; LYRM4 ISD11, S. CEREVISIAE, HOMOLOG OF; ISD11;; CHROMOSOME 6 OPEN READING FRAME 149; C6ORF149 Number Sign 613312 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 Number Sign 613313 HEMOCHROMATOSIS, TYPE 2B; HFE2B Asterisk 613314 RIBOSOMAL PROTEIN L37A; RPL37A Asterisk 613315 RIBOSOMAL PROTEIN L41; RPL41 HG12 Asterisk 613316 WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 4; WDFY4 KIAA1607 Asterisk 613317 DDB1- AND CUL4-ASSOCIATED FACTOR 11; DCAF11 WD REPEAT-CONTAINING PROTEIN 23; WDR23 Percent 613318 MIYOSHI MUSCULAR DYSTROPHY 2; MMD2 MIYOSHI MYOPATHY 2 Number Sign 613319 MIYOSHI MUSCULAR DYSTROPHY 3; MMD3 MIYOSHI MYOPATHY 3 Number Sign 613320 SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM CHONDRODYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE Asterisk 613321 GLUCOSIDE XYLOSYLTRANSFERASE 1; GXYLT1 GLYCOSYLTRANSFERASE 8 DOMAIN-CONTAINING PROTEIN 3; GLT8D3 Asterisk 613322 GLUCOSIDE XYLOSYLTRANSFERASE 2; GXYLT2 GLYCOSYLTRANSFERASE 8 DOMAIN-CONTAINING PROTEIN 4; GLT8D4 Asterisk 613323 FERM AND PDZ DOMAINS-CONTAINING PROTEIN 2; FRMPD2 Asterisk 613324 SPERMATOGENESIS-ASSOCIATED PROTEIN 13; SPATA13 APC-STIMULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; ASEF2 Number Sign 613325 RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2 Asterisk 613326 DIHYDROPYRIMIDINASE; DPYS 5,6-DIHYDROPYRIMIDINE AMIDOHYDROLASE; DHP Number Sign 613327 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 4, WITH MUSCULAR DYSTROPHY;; LIPODYSTROPHY, BERARDINELLI-SEIP CONGENITAL, TYPE 4, WITH MUSCULAR DYSTROPHY NULL 613328 ROIFMAN-CHITAYAT SYNDROME COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY, SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY Number Sign 613329 PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY Number Sign 613330 SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA; SMMD Asterisk 613331 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 1; MARCHF1 MARCH I; MARCH1 Asterisk 613332 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 2; MARCHF2 MARCH II; MARCH2 Asterisk 613333 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 3; MARCHF3 MARCH III; MARCH3 Asterisk 613334 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 7; MARCHF7 MARCH VII; MARCH7 Asterisk 613335 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 8; MARCHF8 MARCH VIII; MARCH8;; MIR Asterisk 613336 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 9; MARCHF9 MARCH IX; MARCH9 Asterisk 613337 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 10; MARCHF10 MARCH X; MARCH10 Asterisk 613338 MEMBRANE-ASSOCIATED RING-CH FINGER PROTEIN 11; MARCHF11 MARCH XI; MARCH11 Percent 613339 EPILEPSY, HOT WATER, 1; HWE1 BATHING EPILEPSY;; WATER IMMERSION EPILEPSY Percent 613340 EPILEPSY, HOT WATER, 2; HWE2 Number Sign 613341 LEBER CONGENITAL AMAUROSIS 14; LCA14 RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED;; RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED NULL 613342 MSELENI JOINT DISEASE Percent 613343 HANDIGODU JOINT DISEASE HJD;; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, HANDIGODU TYPE Asterisk 613344 KIAA1549 GENE; KIAA1549 KIAA1549/BRAF FUSION GENE, INCLUDED Number Sign 613345 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2 Asterisk 613346 SHISA FAMILY, MEMBER 9; SHISA9 CYSTINE-KNOT AMPA RECEPTOR-MODULATING PROTEIN, 44-KD; CKAMP44 Number Sign 613347 PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 PNCA2 Number Sign 613348 PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 PNCA3 Asterisk 613349 ORNITHINE AMINOTRANSFERASE; OAT ORNITHINE KETO ACID AMINOTRANSFERASE; OKT;; ORNITHINE DELTA-AMINOTRANSFERASE Asterisk 613350 SOLUTE CARRIER FAMILY 52 (RIBOFLAVIN TRANSPORTER), MEMBER 3; SLC52A3 RIBOFLAVIN TRANSPORTER 2; RFT2;; RFVT3;; CHROMOSOME 20 OPEN READING FRAME 54; C20ORF54 Asterisk 613351 RHO GTPase-ACTIVATING PROTEIN 18; ARHGAP18 Asterisk 613352 ARGININE/SERINE-RICH COILED-COIL PROTEIN 1; RSRC1 SR-RELATED PROTEIN, 53-KD; SRRP53 Number Sign 613353 MONONEUROPATHY OF THE MEDIAN NERVE, MILD; MNMN CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO Asterisk 613354 TAPERIN; TPRN CHROMOSOME 9 OPEN READING FRAME 75; C9ORF75 Number Sign 613355 CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Asterisk 613356 TLR4 INTERACTOR WITH LEUCINE-RICH REPEATS; TRIL KIAA0644 Asterisk 613357 FIBRINOGEN C DOMAIN-CONTAINING PROTEIN 1; FIBCD1 Asterisk 613358 ALDEHYDE DEHYDROGENASE 16 FAMILY, MEMBER A1; ALDH16A1 Asterisk 613359 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 6; LYPD6 Asterisk 613360 DAMAGE-REGULATED AUTOPHAGY MODULATOR 2; DRAM2 TRANSMEMBRANE PROTEIN 77; TMEM77 Asterisk 613361 SOLUTE CARRIER FAMILY 18, MEMBER B1; SLC18B1 CHROMOSOME 6 OPEN READING FRAME 192; C6ORF192 Asterisk 613362 CDK2-INTERACTING PROTEIN; CINP Asterisk 613363 WD REPEAT-CONTAINING PROTEIN 34; WDR34 Percent 613364 SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41 Asterisk 613365 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 6A1; SLCO6A1 GONAD-SPECIFIC TRANSPORTER; GST Asterisk 613366 SOLUTE CARRIER FAMILY 10 (SODIUM/BILE ACID COTRANSPORTER FAMILY), MEMBER 6; SLC10A6 SODIUM-DEPENDENT ORGANIC ANION TRANSPORTER; SOAT Asterisk 613367 LIN54, C. ELEGANS, HOMOLOG OF; LIN54 Asterisk 613368 CARNOSINE SYNTHASE 1; CARNS1 ATP-GRASP DOMAIN-CONTAINING PROTEIN 1; ATPGD1;; KIAA1394 Asterisk 613369 DEAD BOX HELICASE 42; DDX42 DEAD BOX POLYPEPTIDE 42;; RNA HELICASE-LIKE PROTEIN; RHELP;; SPLICING FACTOR 3B, 125-KD SUBUNIT; SF3B125 Number Sign 613370 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10 Percent 613371 SPINOCEREBELLAR ATAXIA 30; SCA30 Asterisk 613372 UFM1-SPECIFIC LIGASE 1; UFL1 NOVEL LZAP-BINDING PROTEIN; NLBP;; KIAA0776;; RCAD Asterisk 613373 YEATS DOMAIN-CONTAINING PROTEIN 2; YEATS2 KIAA1197 Asterisk 613374 COILED-COIL DOMAIN-CONTAINING PROTEIN 101; CCDC101 STAF36 Number Sign 613375 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11; MODY11 Number Sign 613376 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; HMN2C HMN IIC;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC; DHMN2C Asterisk 613377 SH3 DOMAIN-CONTAINING RING FINGER PROTEIN 2; SH3RF2 HEART PROTEIN PHOSPHATASE 1-BINDING PROTEIN; HEPP1 Asterisk 613378 AIG2-LIKE DOMAIN-CONTAINING PROTEIN 1; A2LD1 GAMMA-GLUTAMYLAMINE CYCLOTRANSFERASE; GGACT Asterisk 613379 CARBOXYMETHYLENEBUTENOLIDASE-LIKE PROTEIN; CMBL CARBOXYMETHYLENEBUTENOLIDASE, PSEUDOMONAS, HOMOLOG OF Asterisk 613380 H6 FAMILY HOMEOBOX 3; HMX3 NKX5.1 Asterisk 613381 CYSTATHIONINE BETA-SYNTHASE; CBS Number Sign 613382 BRACHYDACTYLY, TYPE E2; BDE2 Asterisk 613383 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 54; ANKRD54 LYN-INTERACTING ANKYRIN REPEAT PROTEIN; LIAR Asterisk 613384 CYCLIN L1; CCNL1 ACTIVITY- AND NEUROTRANSMITTER-INDUCED GENE 6A; ANIA6A Number Sign 613385 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD Asterisk 613386 PROTEASOME MATURATION PROTEIN; POMP UMP1, YEAST, HOMOLOG OF; UMP1;; PROTEASSEMBLIN Percent 613387 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2; NAFLD2 Number Sign 613388 FANCONI RENOTUBULAR SYNDROME 2; FRTS2 Asterisk 613389 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1C1; SLCO1C1 ORGANIC ANION TRANSPORTER F; OATPF;; ORGANIC ANION TRANSPORTER POLYPEPTIDE 14; OATP14;; SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 14; SLC21A14 Number Sign 613390 FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO Number Sign 613391 DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A DEAFNESS, AUTOSOMAL RECESSIVE 84; DFNB84;; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION Percent 613392 DEAFNESS, AUTOSOMAL RECESSIVE 85; DFNB85 Number Sign 613393 BIRBECK GRANULE DEFICIENCY BIRBECK GRANULES, ABSENCE OF Asterisk 613394 MICRO RNA 138-1; MIR138-1 miRNA138-1;; MIRN138-1 Asterisk 613395 MICRO RNA 138-2; MIR138-2 miRNA138-2;; MIRN138-2 Asterisk 613396 DOWN SYNDROME CRITICAL REGION GENE 8; DSCR8 MALIGNANT MELANOMA-ASSOCIATED PROTEIN 1; MMA1 Asterisk 613397 ADVILLIN; AVIL Number Sign 613398 WARSAW BREAKAGE SYNDROME; WABS Number Sign 613399 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED;; OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, INCLUDED Asterisk 613400 ACIREDUCTONE DIOXYGENASE 1; ADI1 SUBMERGENCE-INDUCED PROTEIN-LIKE; SIPL;; MT1-MMP CYTOPLASMIC TAIL-BINDING PROTEIN 1; MTCBP1 Asterisk 613401 VPS33B-INTERACTING PROTEIN, APICAL-BASOLATERAL POLARITY REGULATOR, SPE39 HOMOLOG; VIPAS39 VPS33B-INTERACTING PROTEIN, APICAL-BASOLATERAL POLARITY REGULATOR; VIPAR;; SPE39, C. ELEGANS, HOMOLOG OF; SPE39;; CHROMOSOME 14 OPEN READING FRAME 133; C14ORF133 Number Sign 613402 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10 Asterisk 613403 TRANSMEMBRANE PROTEIN 127; TMEM127 Number Sign 613404 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2 Asterisk 613405 MICRO RNA 2861; MIR2861 miRNA 2861;; MIRN2861 Number Sign 613406 WITTEVEEN-KOLK SYNDROME; WITKOS CHROMOSOME 15q24 DELETION SYNDROME, INCLUDED;; CHROMOSOME 15q24 DUPLICATION SYNDROME, INCLUDED Percent 613407 LEPROSY, SUSCEPTIBILITY TO, 6; LPRS6 Asterisk 613408 COILED-COIL DOMAIN-CONTAINING PROTEIN 122; CCDC122 Asterisk 613409 LACCASE (MULTICOPPER REDUCTASE) DOMAIN-CONTAINING PROTEIN 1; LACC1 CHROMOSOME 13 OPEN READING FRAME 31; C13ORF31 Number Sign 613410 AUTISM, SUSCEPTIBILITY TO, 16; AUTS16 AUTISM WITH OR WITHOUT SEIZURES Number Sign 613411 OGUCHI DISEASE 2 NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 2; CSNBO2 Percent 613412 ESOPHAGITIS, EOSINOPHILIC, 2; EOE2 Asterisk 613413 TRANSMEMBRANE PROTEIN 106B; TMEM106B Asterisk 613414 INTERLEUKIN 17 RECEPTOR E-LIKE; IL17REL Asterisk 613415 CREATINE KINASE, MITOCHONDRIAL 1A; CKMT1A CREATINE KINASE, MITOCHONDRIAL 1, TELOMERIC COPY;; CKMT1, TELOMERIC COPY Asterisk 613416 SCINDERIN; SCIN ADSEVERIN;; KIAA1905 Asterisk 613417 FAMILY WITH SEQUENCE SIMILARITY 48, MEMBER A; FAM48A p38-INTERACTING PROTEIN; P38IP;; CHROMOSOME 13 OPEN READING FRAME 19; C13ORF19 Number Sign 613418 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15; BMND15 OSTEOPOROSIS, SUSCEPTIBILITY TO;; METAPHYSEAL FRACTURE, SUSCEPTIBILITY TO;; COMPRESSION FRACTURE, SUSCEPTIBILITY TO Asterisk 613419 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 4; ZSCAN4 ZINC FINGER PROTEIN 494; ZNF494 Asterisk 613420 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 1; KCTD1 Asterisk 613421 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 10; KCTD10 Asterisk 613422 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 2; KCTD2 KIAA0176 Asterisk 613423 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 16; KCTD16 KIAA1317 Number Sign 613424 CARDIOMYOPATHY, DILATED, 1R; CMD1R LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED; LVNC4, INCLUDED Asterisk 613425 PHOTORECEPTOR CILIUM ACTIN REGULATOR; PCARE CHROMOSOME 2 OPEN READING FRAME 71; C2ORF71 Number Sign 613426 CARDIOMYOPATHY, DILATED, 1S; CMD1S LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED; LVNC5, INCLUDED Asterisk 613427 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 16; ANAPC16 METABOLIC SYNDROME-ASSOCIATED GENE; MSAG;; CHROMOSOME 10 OPEN READING FRAME 104; C10ORF104 Number Sign 613428 RETINITIS PIGMENTOSA 54; RP54 Asterisk 613429 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 2; HAUS2 CENTROSOMAL PROTEIN, 27-KD: CEP27 Asterisk 613430 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 3; HAUS3 DIM GAMMA-TUBULIN 3, DROSOPHILA, HOMOLOG OF; DGT3;; CHROMOSOME 4 OPEN READING FRAME 15; C4ORF15 Asterisk 613431 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 4; HAUS4 CHROMOSOME 14 OPEN READING FRAME 94; C14ORF94 Asterisk 613432 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 5; HAUS5 DIM GAMMA-TUBULIN 5, DROSOPHILA, HOMOLOG OF; DGT5;; KIAA0841 Asterisk 613433 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 6; HAUS6 DIM GAMMA-TUBULIN 6, DROSOPHILA, HOMOLOG OF; DGT6;; FAMILY WITH SEQUENCE SIMILARITY 29, MEMBER A; FAM29A Asterisk 613434 HAUS AUGMIN-LIKE COMPLEX, SUBUNIT 8; HAUS8 DIM GAMMA-TUBULIN 4, DROSOPHILA, HOMOLOG OF; DGT4;; HEC1-INTERACTING AND CENTROSOME-ASSOCIATED PROTEIN 1; HICE1 Number Sign 613435 AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12 Number Sign 613436 AUTISM, SUSCEPTIBILITY TO, 17; AUTS17 Asterisk 613437 FCH DOMAIN ONLY PROTEIN 1; FCHO1 Asterisk 613438 FCH DOMAIN ONLY PROTEIN 2; FCHO2 Asterisk 613439 CONSORTIN; CNST Percent 613440 STATURE QUANTITATIVE TRAIT LOCUS 21; STQTL21 Asterisk 613441 TRANSCOBALAMIN II; TCN2 TC II;; VITAMIN B12-BINDING PROTEIN 2 Asterisk 613442 PENTRAXIN 4, LONG; PTX4 Number Sign 613443 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20 MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL, INCLUDED Number Sign 613444 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16, INCLUDED; BMIQ16, INCLUDED;; OBESITY, SUSCEPTIBILITY TO, INCLUDED Caret 613445 MOVED TO 600642 Asterisk 613446 CENTROSOMAL PROTEIN, 120-KD; CEP120 COILED-COIL DOMAIN-CONTAINING PROTEIN 100; CCDC100 Asterisk 613447 SPINDLE- AND CENTRIOLE-ASSOCIATED PROTEIN 1; SPICE1 SPINDLE AND CENTRIOLE PROTEIN; SPICE;; COILED-COIL DOMAIN-CONTAINING PROTEIN 52, FORMERLY; CCDC52, FORMERLY Asterisk 613448 MITOTIC SPINDLE ORGANIZING PROTEIN 1; MZT1 MITOTIC SPINDLE-ORGANIZING PROTEIN ASSOCIATED WITH A RING OF GAMMA-TUBULIN 1; MOZART1;; CHROMOSOME 13 OPEN READING FRAME 37; C13ORF37 Asterisk 613449 FAMILY WITH SEQUENCE SIMILARITY 128, MEMBER A; FAM128A MITOTIC SPINDLE-ORGANIZING PROTEIN ASSOCIATED WITH A RING OF GAMMA-TUBULIN 2A; MOZART2A Asterisk 613450 FAMILY WITH SEQUENCE SIMILARITY 128, MEMBER B; FAM128B MITOTIC SPINDLE-ORGANIZING PROTEIN ASSOCIATED WITH A RING OF GAMMA-TUBULIN 2B; MOZART2B Number Sign 613451 FRONTONASAL DYSPLASIA 2; FND2 Asterisk 613452 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT GAMMA; CATSPERG Number Sign 613453 DEAFNESS, AUTOSOMAL RECESSIVE 91; DFNB91 Number Sign 613454 RETT SYNDROME, CONGENITAL VARIANT Asterisk 613455 MELANOMA INHIBITORY ACTIVITY FAMILY, MEMBER 3; MIA3 TRANSPORT AND GOLGI ORGANIZATION GENE 1; TANGO1;; TANGO;; KIAA0268 Number Sign 613456 FRONTONASAL DYSPLASIA 3; FND3 Number Sign 613457 CHROMOSOME 14q11-q22 DELETION SYNDROME Number Sign 613458 CHROMOSOME 16p13.3 DUPLICATION SYNDROME Percent 613459 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 2; BWQTL2 Percent 613460 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 6; FGQTL6 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 3, INCLUDED; BWQTL3, INCLUDED;; PLASMA GLUCOSE, 2-HOUR, QUANTITATIVE TRAIT LOCUS 1, INCLUDED; PGQTL1, INCLUDED Asterisk 613461 LEPTIN RECEPTOR OVERLAPPING TRANSCRIPT; LEPROT LEPTIN RECEPTOR GENE-RELATED PROTEIN; OBRGRP Percent 613462 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 4; FGQTL4 Number Sign 613463 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5; FGQTL5 Number Sign 613464 RETINITIS PIGMENTOSA 51; RP51 Asterisk 613465 NME/NM23 NUCLEOSIDE DIPHOSPHATE KINASE 7; NME7 NONMETASTATIC CELLS 7, PROTEIN EXPRESSED IN;; NM23H7;; NUCLEOSIDE DIPHOSPHATE KINASE 7 Asterisk 613466 PREFOLDIN 2; PFDN2 Asterisk 613467 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 6; ZCCHC6 TERMINAL URIDYLTRANSFERASE 7; TUT7;; KIAA1711 Asterisk 613468 N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1 ASAH;; N-ACYLSPHINGOSINE DEACYLASE;; ACID CERAMIDASE; AC;; ACID CDase;; ACDase Asterisk 613469 HEPARANASE 2; HPSE2 HPA2 Number Sign 613470 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Number Sign 613471 REYNOLDS SYNDROME PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA Asterisk 613472 UNC51-LIKE KINASE 3; ULK3 Asterisk 613473 WD REPEAT-CONTAINING PROTEIN 7; WDR7 TGF-BETA RESISTANCE-ASSOCIATED GENE; TRAG;; RABCONNECTIN 3, BETA;; KIAA0541 Asterisk 613474 ZINC FINGER AN1 DOMAIN-CONTAINING PROTEIN 2B; ZFAND2B AN1-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2B;; ARSENITE-INDUCIBLE RNA-ASSOCIATED PROTEIN-LIKE PROTEIN; AIRAPL;; AIRAP-LIKE PROTEIN Asterisk 613475 RIBOSOMAL RNA-PROCESSING FACTOR, 36-KD, S. CEREVISIAE, HOMOLOG OF; RRP36 CHROMOSOME 6 OPEN READING FRAME 153; C6ORF153 Asterisk 613476 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 6; MFSD6 MACROPHAGE MHC RECEPTOR 2; MMR2 Number Sign 613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5 Asterisk 613478 COILED-COIL DOMAIN-CONTAINING PROTEIN 106; CCDC106 Asterisk 613479 5-AZACYTIDINE-INDUCED GENE 1, MOUSE, HOMOLOG OF; AZI1 AZ1, MOUSE, HOMOLOG OF; AZ1;; KIAA1118 Number Sign 613480 LYMPHATIC MALFORMATION 3; LMPHM3 LYMPHEDEMA, HEREDITARY, IC, FORMERLY; LMPH1C, FORMERLY Asterisk 613481 COILED-COIL DOMAIN-CONTAINING PROTEIN 62: CCDC62 ESTROGEN RECEPTOR-ASSOCIATED PROTEIN, 75-KD; ERAP75 Asterisk 613482 CYCLIN L2; CCNL2 Asterisk 613483 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER E22; BHLHE22 BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 5; BHLHB5;; BETA3 Asterisk 613484 SPEN, DROSOPHILA, HOMOLOG OF; SPEN MSX2-INTERACTING NUCLEAR TARGET; MINT;; SMART/HDAC1-ASSOCIATED REPRESSOR PROTEIN; SHARP;; KIAA0929 Number Sign 613485 LONG QT SYNDROME 13; LQT13 Asterisk 613486 MICRO RNA 33B; MIR33B miRNA33B;; MIRN33B Asterisk 613487 MICRO RNA 212; MIR212 miRNA212;; MIRN212;; MIR212-3p MICRO RNA 212*, INCLUDED; MIR212*, INCLUDED;; MICRO RNA 212-5p, INCLUDED; MIR212-5p, INCLUDED Number Sign 613488 MYXOID LIPOSARCOMA Number Sign 613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J CDG IIj; CDGIIj Number Sign 613490 ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD Asterisk 613491 ALKALINE CERAMIDASE 1; ACER1 ALKALINE CDase 1;; ALKCDase1 Asterisk 613492 ALKALINE CERAMIDASE 2; ACER2 ALKALINE CDase 2;; ALKCDase2 Number Sign 613493 IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 ANTIBODY DEFICIENCY DUE TO CD19 DEFECT Number Sign 613494 IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4 ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT Number Sign 613495 IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 ANTIBODY DEFICIENCY DUE TO CD20 DEFECT Number Sign 613496 IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 ANTIBODY DEFICIENCY DUE TO CD81 DEFECT Asterisk 613497 LIPASE A, LYSOSOMAL ACID; LIPA LYSOSOMAL ACID LIPASE; LAL;; CHOLESTEROL ESTER HYDROLASE Percent 613498 SEX HORMONE-BINDING GLOBULIN CIRCULATING LEVEL QUANTITATIVE TRAIT LOCUS; SXGQTL1 TESTOSTERONE CIRCULATING LEVEL QUANTITATIVE TRAIT LOCUS, DUE TO SEX HORMONE-BINDING GLOBULIN Asterisk 613499 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER A; HIST1H2AA HISTONE GENE CLUSTER 1, H2AA;; HIST1 CLUSTER, H2AA;; H2A HISTONE FAMILY, MEMBER R; H2AFR;; H2A/R Number Sign 613500 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT Number Sign 613501 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT Number Sign 613502 AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT Asterisk 613503 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ ALPHA-2; HLA-DQA2 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DX ALPHA; HLA-DXA;; DX-ALPHA Asterisk 613504 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 21; ZFYVE21 ZINC FINGER PROTEIN 21; ZF21 Asterisk 613505 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 26; LRRC26 CYTOKERATIN-ASSOCIATED PROTEIN IN CANCER; CAPC Number Sign 613506 AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5 AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT Number Sign 613507 GLYCOGEN STORAGE DISEASE XV; GSD15 GSD XV;; GLYCOGENIN DEFICIENCY;; GYG1 DEFICIENCY Number Sign 613508 SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL1 HYPONATREMIA, INCLUDED Number Sign 613509 CHROMOSOME 4q21 DELETION SYNDROME Asterisk 613510 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MITOGEN-ACTIVATED PROTEIN KINASE AND MAMMALIAN TARGET OF RAPAMYCIN ACTIVATOR 1; LAMTOR1 LATE ENDOSOMAL/LYSOSOMAL ADAPTOR, MAPK AND MTOR ACTIVATOR 1;; p27(Kip1)-RELEASING FACTOR FROM RHOA; p27RF-Rho;; PROTEIN ASSOCIATED WITH DETERGENT-RESISTANT MEMBRANES AND ENDOSOMES; PDRO;; CHROMOSOME 11 OPEN READING FRAME 59; C11ORF59 Asterisk 613511 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 9; SPINK9 LYMPHOEPITHELIAL KAZAL-TYPE-RELATED INHIBITOR 2; LEKTI2 Asterisk 613512 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 6; ZBED6 BED-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 6 Asterisk 613513 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 11A; ZC3H11A KIAA0663 Asterisk 613514 ZONA PELLUCIDA GLYCOPROTEIN 4; ZP4 ZONA PELLUCIDA B PROTEIN; ZPB Asterisk 613515 AUTOPHAGY 14, S. CEREVISIAE, HOMOLOG OF; ATG14 YEAST ATG14-LIKE; ATG14L;; KIAA0831;; BECN1-INTERACTING PROTEIN;; BECN1-ASSOCIATED AUTOPHAGY-RELATED KEY REGULATOR; BARKOR Asterisk 613516 RUN DOMAIN- AND CYSTEINE-RICH DOMAIN-CONTAINING BECLIN-1-INTERACTING PROTEIN; RUBCN KIAA0226 GENE; KIAA0226;; RUBICON;; RUNDATAXIN; RDTX Number Sign 613517 MICROPHTHALMIA, ISOLATED 6; MCOP6 MICROPHTHALMIA, POSTERIOR NONSYNDROMIC Percent 613518 DERMATITIS, ATOPIC, 8; ATOD8 DERMATITIS, ATOPIC, SEVERITY OF Percent 613519 DERMATITIS, ATOPIC, 9; ATOD9 Asterisk 613520 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 6; FGD6 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 24; ZFYVE24 Asterisk 613521 UROPORPHYRINOGEN DECARBOXYLASE; UROD Asterisk 613522 OPSIN 1, SHORT-WAVE-SENSITIVE; OPN1SW BLUE CONE PIGMENT; BCP Number Sign 613523 CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME STEM CELL LEUKEMIA/LYMPHOMA; SCLL Asterisk 613524 SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 8; SDCCAG8 CENTROSOMAL COLON CANCER AUTOANTIGEN PROTEIN; CCCAP;; NY-CO-8;; SLSN7 GENE;; NPHP10 GENE;; BBS16 GENE Asterisk 613525 SEEK1 GENE SEEK1;; PSORIASIS SUSCEPTIBILITY 1 CANDIDATE GENE 1; PSORS1C1;; PSORS1 CANDIDATE GENE 1;; CHROMOSOME 6 OPEN READING FRAME 16; C6ORF16 Asterisk 613526 SPR1 GENE SPR1;; PSORIASIS SUSCEPTIBILITY 1 CANDIDATE GENE 2; PSORS1C2;; PSORS1 CANDIDATE GENE 2;; CHROMOSOME 6 OPEN READING FRAME 17; C6ORF17 Asterisk 613527 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 27; DNAJC27 RAB AND DNAJ DOMAIN-CONTAINING PROTEIN; RBJ Asterisk 613528 SYNAPTOTAGMIN 9; SYT9 Asterisk 613529 CENTROSOMAL PROTEIN, 152-KD; CEP152 KIAA0912 Percent 613530 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H; LGMD1H Asterisk 613531 PHOSPHATASE AND TENSIN HOMOLOG PSEUDOGENE; PTENP1 Asterisk 613532 RAS-ASSOCIATED PROTEIN RAB8B; RAB8B Number Sign 613533 CHROMOSOME 17q21.31 DUPLICATION SYNDROME Asterisk 613534 FANCD2/FANCI-ASSOCIATED NUCLEASE 1; FAN1 MYOTUBULARIN-RELATED PROTEIN 15; MTMR15;; KIAA1018 Asterisk 613535 KIAA0319-LIKE; KIAA0319L KIAA1837;; ADENO-ASSOCIATED VIRUS RECEPTOR; AAVR Asterisk 613536 LEUCINE-, GLUTAMATE-, AND LYSINE-RICH PROTEIN 1; LEKR1 Asterisk 613537 NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 5; NLRC5 NLR FAMILY, CARD-CONTAINING 5 Asterisk 613538 FEM1, C. ELEGANS, HOMOLOG OF, A; FEM1A Asterisk 613539 FEM1, C. ELEGANS, HOMOLOG OF, B; FEM1B FEM1-LIKE PROTEIN IN APOPTOTIC PATHWAY, ALPHA;; F1A-ALPHA;; KIAA0396 Asterisk 613540 SERINE PALMITOYLTRANSFERASE, SMALL SUBUNIT, A; SPTSSA SMALL SUBUNIT OF SERINE PALMITOYLTRANSFERASE A; SSSPTA;; CHROMOSOME 14 OPEN READING FRAME 147; C14ORF147 Asterisk 613541 CHROMOSOME 12 OPEN READING FRAME 65; C12ORF65 Asterisk 613542 MITOCHONDRIAL TRANSLATIONAL RELEASE FACTOR 1-LIKE; MTRF1L MTRF1A;; HUMAN MITOCHONDRIAL RELEASE FACTOR 1-LIKE; HMRF1L Asterisk 613543 SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 5A1; SLCO5A1 ORGANIC ANION TRANSPORTER POLYPEPTIDE-RELATED PROTEIN 4; OATPRP4;; SOLUTE CARRIER FAMILY 21, MEMBER 15; SLC21A15;; ORGANIC ANION TRANSPORTER POLYPEPTIDE J; OATPJ;; OATP5A1 Number Sign 613544 CHROMOSOME 6q11-q14 DELETION SYNDROME CHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED Percent 613545 MACROSTOMIA, ISOLATED LATERAL CLEFT, ISOLATED;; COMMISSURAL CLEFT, ISOLATED;; TRANSVERSE CLEFT, ISOLATED Number Sign 613546 AROMATASE DEFICIENCY PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY Percent 613547 STATURE QUANTITATIVE TRAIT LOCUS 22; STQTL22 Percent 613548 STATURE QUANTITATIVE TRAIT LOCUS 23; STQTL23 Percent 613549 STATURE QUANTITATIVE TRAIT LOCUS 24; STQTL24 Number Sign 613550 NEPHRONOPHTHISIS 11; NPHP11 Number Sign 613551 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6 Asterisk 613552 GAMMA-SECRETASE-ACTIVATING PROTEIN; GSAP PIGEON, DROSOPHILA, HOMOLOG OF; PION Asterisk 613553 X-PROLYL AMINOPEPTIDASE 3; XPNPEP3 AMINOPEPTIDASE P3; APP3 Number Sign 613554 VON WILLEBRAND DISEASE, TYPE 2; VWD2 VON WILLEBRAND DISEASE, TYPE II;; VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED; VWD2A, INCLUDED;; VON WILLEBRAND DISEASE, TYPE 2B, INCLUDED; VWD2B, INCLUDED;; VON WILLEBRAND DISEASE, TYPE 2M, INCLUDED; VWD2M, INCLUDED;; VON WILLEBRAND DISEASE, TYPE 2N, INCLUDED; VWD2N, INCLUDED Asterisk 613555 TET ONCOGENE FAMILY, MEMBER 3; TET3 KIAA0401 Asterisk 613556 MICRO RNA 659; MIR659 miRNA659;; MIRN659 Caret 613557 MOVED TO 604213 Number Sign 613558 DEAFNESS, AUTOSOMAL DOMINANT 51; DFNA51 CHROMOSOME 9q21.11 DUPLICATION SYNDROME Number Sign 613559 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7 Asterisk 613560 N-TERMINAL X-PRO-LYS N-METHYLTRANSFERASE 1; NTMT1 METHYLTRANSFERASE-LIKE 11A; METTL11A;; N-TERMINAL RCC1 METHYLTRANSFERASE; NRMT;; RCC1 METHYLTRANSFERASE, N-TERMINAL;; C9ORF32 Number Sign 613561 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2 Asterisk 613562 Fc RECEPTOR-LIKE PROTEIN 6; FCRL6 FCRH6 Number Sign 613563 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL CBL SYNDROME;; CBL MUTATION-ASSOCIATED SYNDROME Number Sign 613564 CHROMOSOME 2p12-p11.2 DELETION SYNDROME Asterisk 613565 UBIQUITINATION FACTOR E4B; UBE4B UFD2, S. CEREVISIAE, HOMOLOG OF, A; UFD2A;; KIAA0684 Number Sign 613566 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6 HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED Asterisk 613567 ZINC FINGER, MYM-TYPE 6; ZMYM6 ZINC FINGER PROTEIN 258; ZNF258;; ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 7; ZBED7;; BUSTER2;; KIAA1353 Asterisk 613568 ZINC FINGER, MYM-TYPE 4; ZMYM4 ZINC FINGER PROTEIN 262; ZNF262;; KIAA0425 CELL DEATH-INHIBITING RNA, INCLUDED; CDIR, INCLUDED Asterisk 613569 SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 2; SUN2 SUN DOMAIN-CONTAINING PROTEIN 2;; UNC84, C. ELEGANS, HOMOLOG OF, B; UNC84B;; KIAA0668 Asterisk 613570 LIPID DROPLET ASSOCIATED HYDROLASE; LDAH CHROMOSOME 2 OPEN READING FRAME 43; C2ORF43 Number Sign 613571 DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY;; DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY Asterisk 613572 G PROTEIN-COUPLED RECEPTOR, FAMILY C, GROUP 6, MEMBER A; GPRC6A Number Sign 613573 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1; EDSS1 Asterisk 613574 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 39B; TTC39B Number Sign 613575 RETINITIS PIGMENTOSA 55; RP55 Percent 613576 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2; EDSS2 Asterisk 613577 TBC1 DOMAIN FAMILY, MEMBER 24; TBC1D24 KIAA1171;; SKYWALKER, DROSOPHILA, HOMOLOG OF; SKY Asterisk 613578 PROTEASE, SERINE, 3; PRSS3 TRYPSINOGEN 3; TRY3;; MESOTRYPSINOGEN;; T9 TRYPSIN 3, INCLUDED;; MESOTRYPSIN, INCLUDED;; TRYPSINOGEN 4, INCLUDED; TRY4, INCLUDED;; TRYPSIN 4, INCLUDED Asterisk 613579 C-TYPE LECTIN DOMAIN FAMILY 6, MEMBER A; CLEC6A DECTIN 2;; CLEC4N, MOUSE, HOMOLOG OF Asterisk 613580 WD REPEAT-CONTAINING PLANAR CELL POLARITY EFFECTOR; WDPCP CHROMOSOME 2 OPEN READING FRAME 86; C2ORF86;; FRITZ, DROSOPHILA, HOMOLOG OF;; BBS15 GENE; BBS15 Number Sign 613581 RETINITIS PIGMENTOSA 56; RP56 Number Sign 613582 RETINITIS PIGMENTOSA 57; RP57 Asterisk 613583 WD REPEAT-CONTAINING PROTEIN 62; WDR62 C19ORF14 Asterisk 613584 ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L2; ALDH1L2 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE, MITOCHONDRIAL;; MITOCHONDRIAL 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE Asterisk 613585 TRANSMEMBRANE PROTEIN 147; TMEM147 Asterisk 613586 NIN1/RPN12-BINDING PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; NOB1 Number Sign 613587 OCCULT MACULAR DYSTROPHY; OCMD OMD Asterisk 613588 C-TYPE LECTIN DOMAIN FAMILY 3, MEMBER A; CLEC3A LECTIN, C-TYPE, SUPERFAMILY MEMBER 1; CLECSF1 Number Sign 613589 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6; LDLCQ6 Asterisk 613590 BUTYROPHILIN, SUBFAMILY 2, MEMBER A1; BTN2A1 BT2.1;; BTF1 Asterisk 613591 BUTYROPHILIN, SUBFAMILY 2, MEMBER A2; BTN2A2 BTF2;; BT2.2 Asterisk 613592 BUTYROPHILIN, SUBFAMILY 2, MEMBER A3; BTN2A3 Asterisk 613593 BUTYROPHILIN, SUBFAMILY 3, MEMBER A1; BTN3A1 BT3.1;; BTF5;; CD277 Asterisk 613594 BUTYROPHILIN, SUBFAMILY 3, MEMBER A2; BTN3A2 BT3.2;; BTF4 Asterisk 613595 BUTYROPHILIN, SUBFAMILY 3, MEMBER A3; BTN3A3 BTF3 Asterisk 613596 FAMILY WITH SEQUENCE SIMILARITY 161, MEMBER A; FAM161A Asterisk 613597 4-HYDROXY-2-OXOGLUTARATE ALDOLASE 1; HOGA1 DIHYDRODIPICOLINATE SYNTHASE-LIKE, MITOCHONDRIAL; DHDPSL Asterisk 613598 ZINC FINGER PROTEIN 513; ZNF513 Asterisk 613599 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 12; ABHD12 NULL 613600 TORSADE DE POINTES, SHORT-COUPLED VARIANT NULL 613601 EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION EARLY REPOLARIZATION SYNDROME Asterisk 613602 WD REPEAT-CONTAINING PROTEIN 35; WDR35 NAOFEN;; INTRAFLAGELLAR TRANSPORT 121, CHLAMYDOMONAS, HOMOLOG OF; IFT121;; KIAA1336 Number Sign 613603 CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME Number Sign 613604 CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB Asterisk 613605 BBS PROTEIN COMPLEX-INTERACTING PROTEIN 1; BBIP1 BBSOME-INTERACTING PROTEIN 1;; BBS PROTEIN COMPLEX-INTERACTING PROTEIN, 10-KD; BBIP10;; BBS18 GENE;; NONCODING RNA 81, FORMERLY; NCRNA00081, FORMERLY Percent 613606 FORSYTHE-WAKELING SYNDROME; FWS MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA Asterisk 613607 THYMOCYTE SELECTION-ASSOCIATED PROTEIN; THEMIS THYMOCYTE-EXPRESSED MOLECULE INVOLVED IN SELECTION;; THYMOCYTE SELECTION-ASSOCIATED PROTEIN FAMILY, MEMBER 1; THEMIS1;; GRB2-ASSOCIATED PROTEIN; GASP;; SIGNALING PHOSPHOPROTEIN SPECIFIC FOR T CELLS; SPOT;; CHROMOSOME 6 OPEN READING FRAME 190; C6ORF190 Percent 613608 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3; FCMTE3 Asterisk 613609 HFE GENE; HFE HLAH Number Sign 613610 CRANIOECTODERMAL DYSPLASIA 2; CED2 Number Sign 613611 CHOANAL ATRESIA AND LYMPHEDEMA; CATLPH Number Sign 613612 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I CDG IIi; CDGIIi Asterisk 613613 MICRO RNA 208B; MIR208B miRNA208B;; MIRN208B Asterisk 613614 MICRO RNA 499; MIR499 miRNA499;; MIRN499 Number Sign 613615 SENIOR-LOKEN SYNDROME 7; SLSN7 Number Sign 613616 HYPEROXALURIA, PRIMARY, TYPE III; HP3 Number Sign 613617 RETINITIS PIGMENTOSA 58; RP58 Number Sign 613618 CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME Asterisk 613619 SCAVENGER RECEPTOR CLASS F, MEMBER 2; SCARF2 SCAVENGER RECEPTOR EXPRESSED BY ENDOTHELIAL CELLS 2; SREC2;; SREC II Asterisk 613620 TBC1 DOMAIN FAMILY, MEMBER 10B; TBC1D10B RAB27AGAP-BETA Asterisk 613621 NUCLEOTIDE-BINDING PROTEIN-LIKE PROTEIN; NUBPL IRON-SULFUR PROTEIN REQUIRED FOR NADH DEHYDROGENASE; IND1 Asterisk 613622 FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; FOXRED1 NULL 613623 AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA Asterisk 613624 ZINC FINGER PROTEIN 592; ZNF592 KIAA0211 Number Sign 613625 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2 Caret 613626 MOVED TO 255500 NULL 613627 BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY, PTOSIS, HEARING LOSS, AND MENTAL RETARDATION TSUKAHARA SYNDROME Percent 613628 ODONTOID HYPOPLASIA Asterisk 613629 PIEZO-TYPE MECHANOSENSITIVE ION CHANNEL COMPONENT 2; PIEZO2 FAMILY WITH SEQUENCE SIMILARITY 38, MEMBER B; FAM38B Number Sign 613630 COCOON SYNDROME FETAL ENCASEMENT SYNDROME Asterisk 613631 WASH COMPLEX, SUBUNIT 2C; WASHC2C FAMILY WITH SEQUENCE SIMILARITY 21, MEMBER C; FAM21C;; VACCINIA VIRUS PENETRATION FACTOR; VPEF;; KIAA0592 Asterisk 613632 WASH COMPLEX, SUBUNIT 1; WASHC1 WAS PROTEIN FAMILY HOMOLOG 1; WASH1;; WASH Asterisk 613633 DENN/MADD DOMAIN-CONTAINING PROTEIN 1A; DENND1A CONNECDENN;; CONNECDENN 1;; KIAA1608 Asterisk 613634 DENN/MADD DOMAIN-CONTAINING PROTEIN 1C; DENND1C CONNECDENN 3 Asterisk 613635 EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 1; EIF2AK1 HEME-REGULATED INHIBITOR; HRI Percent 613636 TUBERCULIN SKIN TEST REACTIVITY, ABSENCE OF TST REACTIVITY, ABSENCE OF;; TST1 Percent 613637 TUBERCULIN SKIN TEST REACTIVITY QUANTITATIVE TRAIT LOCUS TST REACTIVITY QUANTITATIVE TRAIT LOCUS;; TST2 Number Sign 613638 CHROMOSOME 19p13.13 DELETION SYNDROME CHROMOSOME 19p13.13 DUPLICATION SYNDROME, INCLUDED Asterisk 613639 ADHESION G PROTEIN-COUPLED RECEPTOR D1; ADGRD1 G PROTEIN-COUPLED RECEPTOR 133; GPR133;; PGR25 Number Sign 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C HSAN IC;; NEUROPATHY, HEREDITARY SENSORY, TYPE IC; HSN1C;; HSN IC Number Sign 613641 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B; RI-CMTB Number Sign 613642 CARDIOMYOPATHY, DILATED, 1GG; CMD1GG Number Sign 613643 PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5 Asterisk 613644 ACTIVATING TRANSCRIPTION FACTOR 7-INTERACTING PROTEIN; ATF7IP ATF7-INTERACTING PROTEIN;; ATFA MODULATOR, MOUSE, HOMOLOG OF; AM;; MBD1-CONTAINING CHROMATIN-ASSOCIATED FACTOR; MCAF;; MCAF1 Asterisk 613645 ACTIVATING TRANSCRIPTION FACTOR 7-INTERACTING PROTEIN 2; ATF7IP2 ATF7-INTERACTING PROTEIN 2;; MBD1-CONTAINING CHROMATIN-ASSOCIATED FACTOR 2; MCAF2 Number Sign 613646 METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT METHYLMALONIC ACIDEMIA, TCblR TYPE Number Sign 613647 SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE; SPG48 Asterisk 613648 MATERNALLY EXPRESSED GENE 8; MEG8 Asterisk 613649 SMALL NUCLEOLAR RNA, C/D BOX, 112; SNORD112 snoRNA 14q(0) Asterisk 613650 SMALL NUCLEOLAR RNA, C/D BOX, 113-1; SNORD113-1 snoRNA 14q(I-1) Asterisk 613651 SMALL NUCLEOLAR RNA, C/D BOX, 114-1; SNORD114-1 snoRNA 14q(II-1) Number Sign 613652 C1q DEFICIENCY; C1QD Asterisk 613653 ADAPTOR-RELATED PROTEIN COMPLEX 5, ZETA-1 SUBUNIT; AP5Z1 KIAA0415;; SPG48 GENE Asterisk 613654 MICRO RNA 380; MIR380 miRNA380;; MIRN380;; MIR380-3p MICRO RNA 380*, INCLUDED; MIR380*, INCLUDED;; MIR380-5p, INCLUDED Asterisk 613655 POTASSIUM CHANNEL, SUBFAMILY K, MEMBER 18; KCNK18 TWIK-RELATED SPINAL CORD K+ CHANNEL; TRESK;; TWIK-RELATED INDIVIDUAL K+ CHANNEL; TRIK Number Sign 613656 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13 Number Sign 613657 D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2 Number Sign 613658 RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS; RILDBC RAJAB SYNDROME;; DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS, FORMERLY;; NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES, FORMERLY; NEDBLLA, FORMERLY Number Sign 613659 GASTRIC CANCER GASTRIC CANCER, INTESTINAL, INCLUDED Number Sign 613660 CONE-ROD DYSTROPHY 15; CORD15 RETINITIS PIGMENTOSA 65, INCLUDED; RP65, INCLUDED Number Sign 613661 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P Number Sign 613662 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED;; MNGIE, POLG-RELATED Asterisk 613663 SHQ1, S. CEREVISIAE, HOMOLOG OF; SHQ1 Asterisk 613664 SMOOTHELIN-LIKE 1; SMTNL1 CALPONIN HOMOLOGY-ASSOCIATED SMOOTH MUSCLE PROTEIN; CHASM Asterisk 613665 ATYPICAL CHEMOKINE RECEPTOR 1; ACKR1 DUFFY ANTIGEN RECEPTOR FOR CHEMOKINES; DARC;; DUFFY CHEMOKINE RECEPTOR;; FY GLYCOPROTEIN;; GLYCOPROTEIN D; GPD Asterisk 613666 ALG11, S. CEREVISIAE, HOMOLOG OF; ALG11 ASPARAGINE-LINKED GLYCOSYLATION 11, S. CEREVISIAE, HOMOLOG OF;; KIAA0266 Asterisk 613667 SINE OCULIS-BINDING PROTEIN, DROSOPHILA, HOMOLOG OF; SOBP JACKSON CIRCLER PROTEIN 1, MOUSE, HOMOLOG OF; JXC1 Number Sign 613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Asterisk 613669 MITOCHONDRIAL POLY(A) POLYMERASE; MTPAP POLY(A) POLYMERASE, MITOCHONDRIAL;; POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1; PAPD1;; PAP-ASSOCIATED DOMAIN-CONTAINING PROTEIN 1 Number Sign 613670 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Number Sign 613671 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS Number Sign 613672 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE; SPAX4 Number Sign 613673 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV; CDAN4 CDA, TYPE IV Number Sign 613674 VESICOURETERAL REFLUX 3; VUR3 Number Sign 613675 CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;; NF1 MICRODELETION SYNDROME;; VAN ASPEREN SYNDROME NF1 MICRODUPLICATION SYNDROME, INCLUDED Number Sign 613676 SECKEL SYNDROME 4; SCKL4 Number Sign 613677 HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3 FH III Percent 613678 BRACHYOLMIA TYPE 2; BCYM2 BRACHYOLMIA, MAROTEAUX TYPE Number Sign 613679 PROTHROMBIN DEFICIENCY, CONGENITAL HYPOPROTHROMBINEMIA DYSPROTHROMBINEMIA, INCLUDED Number Sign 613680 BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS Number Sign 613681 CHROMOSOME 2q31.1 DUPLICATION SYNDROME MESOMELIC DYSPLASIA, 2q31.1 DUPLICATION-RELATED Asterisk 613682 MICRO RNA 130B; MIR130B miRNA130B;; MIRN130B Asterisk 613683 SOLUTE CARRIER FAMILY 50 (SUGAR TRANSPORTER), MEMBER 1; SLC50A1 RAG1-ACTIVATING PROTEIN 1; RAG1AP1;; SUGAR EFFLUX TRANSPORTER 1; SWEET1 Number Sign 613684 RUBINSTEIN-TAYBI SYNDROME 2; RSTS2 Percent 613685 DEAFNESS, AUTOSOMAL RECESSIVE 83; DFNB83 Number Sign 613686 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4 Asterisk 613687 PARP1-BINDING PROTEIN; PARPBP ANTISENSE RNA OVERLAPPING MCH; AROM;; CHROMOSOME 12 OPEN READING FRAME 48; C12ORF48 Number Sign 613688 LONG QT SYNDROME 2; LQT2 LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 1/2, DIGENIC, INCLUDED; LQT1/2, DIGENIC, INCLUDED;; LONG QT SYNDROME 2/3, DIGENIC, INCLUDED; LQT2/3, DIGENIC, INCLUDED;; LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED;; LONG QT SYNDROME 2/9, DIGENIC, INCLUDED; LQT2/9, DIGENIC, INCLUDED Percent 613689 MAMMARY-DIGITAL-NAIL SYNDROME; MDNS Number Sign 613690 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7 Asterisk 613691 GRAM DOMAIN-CONTAINING PROTEIN 4; GRAMD4 DEATH-INDUCING PROTEIN; DIP;; KIAA0767 Asterisk 613692 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 11; ZCCHC11 KIAA0191;; TERMINAL URIDYLTRANSFERASE 4; TUT4 Number Sign 613693 LONG QT SYNDROME 6; LQT6 LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 3/6, DIGENIC, INCLUDED; LQT3/6, DIGENIC, INCLUDED Number Sign 613694 CARDIOMYOPATHY, DILATED, 1U; CMD1U Number Sign 613695 LONG QT SYNDROME 5; LQT5 LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED;; LONG QT SYNDROME 2/5, DIGENIC, INCLUDED; LQT2/5, DIGENIC, INCLUDED Asterisk 613696 UPSTREAM BINDING TRANSCRIPTION FACTOR (RNA POLYMERASE I)-LIKE 1; UBTFL1 HMG-BOX PROTEIN, PREIMPLANTATION STAGE-SPECIFIC; HMGPI;; UBTF-LIKE 1 Number Sign 613697 CARDIOMYOPATHY, DILATED, 1V; CMD1V Asterisk 613698 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 20; SLC25A20 CARNITINE-ACYLCARNITINE TRANSLOCASE; CACT;; CARNITINE-ACYLCARNITINE CARRIER; CAC Asterisk 613699 GLYCOSYLTRANSFERASE 6 DOMAIN-CONTAINING 1; GLT6D1 GT6M7;; GLTDC1 Number Sign 613700 SUPERNUMERARY DER(22)t(8;22) SYNDROME Asterisk 613701 MICRO RNA 328; MIR328 miRNA328;; MIRN328 Number Sign 613702 KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3 Number Sign 613703 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6 Number Sign 613704 MICROPHTHALMIA, ISOLATED 7; MCOP7 Number Sign 613705 OROFACIAL CLEFT 10; OFC10 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 10 Number Sign 613706 NOONAN SYNDROME 7; NS7 Number Sign 613707 LEOPARD SYNDROME 3; LPRD3 Number Sign 613708 NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D Asterisk 613709 EUKARYOTIC TRANSLATION INITIATION FACTOR 2D; EIF2D HEPATOCELLULAR CARCINOMA-ASSOCIATED ANTIGEN 56; HCA56;; LIGATIN, FORMERLY; LGTN, FORMERLY Number Sign 613710 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4 BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY;; STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY Number Sign 613711 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3 Number Sign 613712 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4 Asterisk 613713 PCI DOMAIN-CONTAINING PROTEIN 2; PCID2 Asterisk 613714 B7 HOMOLOG 6 B7H6 Asterisk 613715 POLYMERASE I, RNA, SUBUNIT D; POLR1D RNA POLYMERASE A, 16-KD, MOUSE, HOMOLOG OF; RPA16;; RPAC2 Asterisk 613716 MICRO RNA 661; MIR661 miRNA661;; MIRN661 Number Sign 613717 TREACHER COLLINS SYNDROME 2; TCS2 Number Sign 613718 DEAFNESS, AUTOSOMAL RECESSIVE 74; DFNB74 Asterisk 613719 METHIONINE SULFOXIDE REDUCTASE B3; MSRB3 Number Sign 613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7 Number Sign 613721 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11 Number Sign 613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12 Number Sign 613723 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17; LGMDR17 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q; LGMD2Q Number Sign 613724 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY; LKDMN STEROL CARRIER PROTEIN 2 DEFICIENCY Asterisk 613725 SOLUTE CARRIER FAMILY 25, MEMBER 17; SLC25A27 UNCOUPLING PROTEIN 4; UCP4 Asterisk 613726 ANOCTAMIN 10; ANO10 TRANSMEMBRANE PROTEIN 16K; TMEM16K Asterisk 613727 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 13; KBTBD13 Number Sign 613728 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 Number Sign 613729 CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME Number Sign 613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS; HDBSCC Number Sign 613731 RETINITIS PIGMENTOSA 4; RP4 RETINITIS PIGMENTOSA, RHODOPSIN-RELATED Caret 613732 MOVED TO 256040 Asterisk 613733 MEN1 GENE; MEN1 MENIN Asterisk 613734 COILED-COIL DOMAIN-CONTAINING PROTEIN 115; CCDC115 COILED-COIL PROTEIN 1; CCP1 Number Sign 613735 BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD CHROMOSOME 1p32-p31 DELETION SYNDROME, INCLUDED Number Sign 613736 ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2 Number Sign 613737 ACNE INVERSA, FAMILIAL, 3; ACNINV3 Asterisk 613738 ALKYLGLYCEROL MONOOXYGENASE; AGMO GLYCERYL-ETHER MONOOXYGENASE;; TRANSMEMBRANE PROTEIN 195: TMEM195 Asterisk 613739 THYMOCYTE NUCLEAR PROTEIN 1; THYN1 HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 144; HSPC144;; THY28, CHICKEN, HOMOLOG OF; THY28 Caret 613740 MOVED TO 115200 Asterisk 613741 GLYCOGEN PHOSPHORYLASE, LIVER; PYGL LGP Asterisk 613742 GLUCOSE-6-PHOSPHATASE, CATALYTIC; G6PC GLUCOSE-6-PHOSPHATASE, CATALYTIC, 1; G6PC1;; G6PT, FORMERLY Number Sign 613743 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE P450scc DEFICIENCY Number Sign 613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY Asterisk 613745 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 10; ANAPC10 APC10;; DOC1, S. CEREVISIAE, HOMOLOG OF; DOC1 Asterisk 613746 BREAST CANCER ANTIESTROGEN RESISTANCE 4; BCAR4 Asterisk 613747 KINESIN FAMILY MEMBER 24; KIF24 Asterisk 613748 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 3; CHCHD3 MITOCHONDRIAL INNER MEMBRANE ORGANIZING SYSTEM PROTEIN 3; MINOS3 MICOS PROTEIN 3;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 19-KD SUBUNIT; MIC19;; MICOS COMPLEX, 19-KD SUBUNIT Asterisk 613749 ZINC FINGER PROTEIN 260; ZNF260 ZFP260;; PHENYLEPHRINE RESPONSE ELEMENT COMPLEX 1, RAT, HOMOLOG OF; PEX1 Number Sign 613750 RETINITIS PIGMENTOSA 27; RP27 RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, CLUMPED PIGMENT TYPE, INCLUDED Number Sign 613751 HETEROTAXY, VISCERAL, 4, AUTOSOMAL; HTX4 Number Sign 613752 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY Asterisk 613753 MICRO RNA 211; MIR211 miRNA211;; MIRN211 Asterisk 613754 RING FINGER PROTEIN 187; RNF187 RING DOMAIN AP1 COACTIVATOR 1; RACO1 Asterisk 613755 MICRO RNA 326; MIR326 miRNA326;; MIRN326 Number Sign 613756 RETINITIS PIGMENTOSA 49; RP49 Number Sign 613757 MACULAR DEGENERATION, AGE-RELATED, 6; ARMD6 Number Sign 613758 RETINITIS PIGMENTOSA 47; RP47 Number Sign 613759 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS FADD DEFICIENCY Asterisk 613760 SOLUTE CARRIER FAMILY 36, MEMBER 4; SLC36A4 PROTON/AMINO ACID TRANSPORTER 4; PAT4 Number Sign 613761 MACULAR DEGENERATION, AGE-RELATED, 5; ARMD5 Number Sign 613762 46,XY SEX REVERSAL 6; SRXY6 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED;; 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED Number Sign 613763 CATARACT 16, MULTIPLE TYPES; CTRCT16 CATARACT, POSTERIOR POLAR, 2; CTPP2;; CATARACT, CONGENITAL LAMELLAR Asterisk 613764 SECRETORY CARRIER MEMBRANE PROTEIN 4; SCAMP4 Number Sign 613765 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9 Asterisk 613766 SECRETORY CARRIER MEMBRANE PROTEIN 5; SCAMP5 Number Sign 613767 RETINITIS PIGMENTOSA 45; RP45 Asterisk 613768 RING FINGER PROTEIN 213; RNF213 ALK LYMPHOMA OLIGOMERIZATION PARTNER ON CHROMOSOME 17; ALO17;; KIAA1618 RNF213/ALK FUSION GENE, INCLUDED Number Sign 613769 RETINITIS PIGMENTOSA 44; RP44 Asterisk 613770 PLACENTA-SPECIFIC GENE 4; PLAC4 Asterisk 613771 TRANSMEMBRANE PROTEIN 205; TMEM205 Asterisk 613772 KELCH-LIKE 14; KLHL14 PROTEIN INTERACTOR OF TORSIN A; PRINTOR;; KIAA1384 Asterisk 613773 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 9B; IGSF9B KIAA1030 Asterisk 613774 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 1; CAMSAP1 Asterisk 613775 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 2; CAMSAP2 CALMODULIN-REGULATED SPECTRIN-ASSOCIATED PROTEIN 1-LIKE 1; CAMSAP1L1;; CAMSAP1-LIKE 1;; KIAA1078 Number Sign 613776 CHROMOSOME 17p13.1 DELETION SYNDROME Asterisk 613777 FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 2; FOXRED2 ENDOPLASMIC RETICULUM FLAVOPROTEIN ASSOCIATED WITH DEGRADATION; ERFAD Number Sign 613778 MACULAR DEGENERATION, AGE-RELATED, 8; ARMD8 Number Sign 613779 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE; C3D C3 DEFICIENCY, AUTOSOMAL RECESSIVE Number Sign 613780 AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7 AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM Asterisk 613781 COILED-COIL DOMAIN-CONTAINING PROTEIN 125; CCDC125 KENAE Asterisk 613782 METHIONINE SULFOXIDE REDUCTASE B2; MSRB2 CBS1 Number Sign 613783 COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD C1s DEFICIENCY Number Sign 613784 MACULAR DEGENERATION, AGE-RELATED, 12; ARMD12 Asterisk 613785 COMPLEMENT COMPONENT 1, r SUBCOMPONENT; C1R COMPLEMENT COMPONENT C1r Asterisk 613786 MICRO RNA 148A; MIR148A miRNA148A;; MIRN148A Asterisk 613787 MICRO RNA 148B; MIR148B miRNA148B;; MIRN148B Asterisk 613788 MICRO RNA 152; MIR152 miRNA152;; MIRN152 Number Sign 613789 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 C8 DEFICIENCY, TYPE II;; COMPLEMENT COMPONENT 8B DEFICIENCY;; C8 BETA DEFICIENCY;; C8B DEFICIENCY Number Sign 613790 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 C8 DEFICIENCY, TYPE I;; C8 ALPHA-GAMMA DEFICIENCY;; C8AG DEFICIENCY Number Sign 613791 MASP2 DEFICIENCY LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2; LCAPD2 Number Sign 613792 CHROMOSOME 3pter-p25 DELETION SYNDROME 3p- SYNDROME Number Sign 613793 BLOOD GROUP, CROMER SYSTEM; CROM CROMER BLOOD GROUP SYSTEM Number Sign 613794 RETINITIS PIGMENTOSA 20; RP20 Number Sign 613795 LOEYS-DIETZ SYNDROME 3; LDS3 ANEURYSMS-OSTEOARTHRITIS SYNDROME;; LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS;; LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY; LDS1C, FORMERLY Number Sign 613796 IMMUNODEFICIENCY 31B; IMD31B IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE;; STAT1 DEFICIENCY, AUTOSOMAL RECESSIVE Asterisk 613797 PROTEASE, SERINE, 33; PRSS33 EOS Asterisk 613798 COILED-COIL DOMAIN-CONTAINING PROTEIN 39; CCDC39 Asterisk 613799 COILED-COIL DOMAIN-CONTAINING PROTEIN 40; CCDC40 KIAA1640 Number Sign 613800 MEIER-GORLIN SYNDROME 2; MGORS2 Number Sign 613801 RETINITIS PIGMENTOSA 40; RP40 Asterisk 613802 MALECTIN; MLEC KIAA0152 Number Sign 613803 MEIER-GORLIN SYNDROME 3; MGORS3 Number Sign 613804 MEIER-GORLIN SYNDROME 4; MGORS4 Number Sign 613805 MEIER-GORLIN SYNDROME 5; MGORS5 Percent 613806 CHOLANGITIS, PRIMARY SCLEROSING; PSC Number Sign 613807 CILIARY DYSKINESIA, PRIMARY, 14; CILD14 CILIARY DYSKINESIA, PRIMARY, 14, WITH OR WITHOUT SITUS INVERSUS Number Sign 613808 CILIARY DYSKINESIA, PRIMARY, 15; CILD15 CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS Number Sign 613809 RETINITIS PIGMENTOSA 39; RP39 Number Sign 613810 RETINITIS PIGMENTOSA 43; RP43 Number Sign 613811 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE; PCCA Number Sign 613812 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3 Asterisk 613813 MOUSE DOUBLE MINUTE 1 HOMOLOG; MDM1 Asterisk 613814 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 19; TTC19 Asterisk 613815 CYTOCHROME P450, FAMILY 21, SUBFAMILY A, POLYPEPTIDE 2; CYP21A2 CYTOCHROME P450, SUBFAMILY XXIA, POLYPEPTIDE 2;; CYTOCHROME P450, SUBFAMILY XXI; CYP21;; STEROID CYTOCHROME P450 21-HYDROXYLASE; P450C21;; 21-HYDROXYLASE B; CYP21B;; CA21H CYTOCHROME P450, SUBFAMILY XXIA, POLYPEPTIDE 1 PSEUDOGENE, INCLUDED; CYP21A1P, INCLUDED;; CYP21P, INCLUDED; CYP21A, INCLUDED Asterisk 613816 UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 7; UBR7 Asterisk 613817 SPERMATOGENESIS-ASSOCIATED SERINE-RICH PROTEIN 2-LIKE; SPATS2L SPATS2-LIKE;; STRESS GRANULE AND NUCLEOLAR PROTEIN; SGNP Number Sign 613818 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 16; LGMDR16;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; LGMD2P;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED Number Sign 613819 SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4 ASPHYXIATING THORACIC DYSTROPHY 4; ATD4 Number Sign 613820 NEPHRONOPHTHISIS 12; NPHP12 JOUBERT SYNDROME 11, INCLUDED; JBTS11, INCLUDED Asterisk 613821 PROTEIN PHOSPHATASE 3, REGULATORY SUBUNIT B, BETA; PPP3R2 PROTEIN PHOSPHATASE 2B, REGULATORY SUBUNIT BETA-2;; PPP3R1-LIKE: PPP3RL;; CALCINEURIN B-LIKE PROTEIN; CBLP Asterisk 613822 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 2; PPP4R2 PP4R2 Number Sign 613823 SECKEL SYNDROME 5; SCKL5 Number Sign 613824 NEPHRONOPHTHISIS 9; NPHP9 Number Sign 613825 COMPLEMENT COMPONENT 9 DEFICIENCY; C9D C9 DEFICIENCY Number Sign 613826 LEBER CONGENITAL AMAUROSIS 6; LCA6 Number Sign 613827 RETINITIS PIGMENTOSA 48; RP48 Percent 613828 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8; GEFSP8 GEFS+, TYPE 8; GEFS+8 Number Sign 613829 LEBER CONGENITAL AMAUROSIS 7; LCA7 Number Sign 613830 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D; CSNB1D CSNB, COMPLETE, AUTOSOMAL RECESSIVE Asterisk 613831 UBIQUITIN PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 3; UBR3 Caret 613832 MOVED TO {607459} Asterisk 613833 KAT8 REGULATORY NSL COMPLEX SUBUNIT 1-LIKE PROTEIN; KANSL1L KANSL1-LIKE PROTEIN;; CHROMOSOME 2 OPEN READING FRAME 67; C2ORF67;; MSL1V2 Number Sign 613834 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY Number Sign 613835 LEBER CONGENITAL AMAUROSIS 8; LCA8 Percent 613836 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 5; ADIPQTL5 Number Sign 613837 LEBER CONGENITAL AMAUROSIS 11; LCA11 Number Sign 613838 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16; CMH16 Number Sign 613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY DHFR DEFICIENCY Asterisk 613840 ZINC FINGER PROTEIN 304; ZNF304 Asterisk 613841 UBINUCLEIN 2; UBN2 Asterisk 613842 GDNF-INDUCIBLE ZINC FINGER PROTEIN 1; GZF1 ZINC FINGER PROTEIN 336; ZNF336 Number Sign 613843 LEBER CONGENITAL AMAUROSIS 15; LCA15 RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED, INCLUDED Asterisk 613844 UBIQUINOL-CYTOCHROME C REDUCTASE HINGE PROTEIN; UQCRH HINGE PROTEIN, MITOCHONDRIAL UQCRH/EWS FUSION GENE, INCLUDED;; UQCRH/ZSG FUSION GENE, INCLUDED Number Sign 613845 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS HUPRA SYNDROME Asterisk 613846 TECTONIC FAMILY, MEMBER 2; TCTN2 TECTONIC 2; TECT2 Asterisk 613847 TECTONIC FAMILY, MEMBER 3; TCTN3 TECTONIC 3; TECT3;; CHROMOSOME 10 OPEN READING FRAME 61; C10ORF61 Number Sign 613848 OSTEOGENESIS IMPERFECTA, TYPE X; OI10 OI, TYPE X Number Sign 613849 OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 OI, TYPE XII Number Sign 613850 INOSINE TRIPHOSPHATASE DEFICIENCY INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY Asterisk 613851 PROLINE-RICH MEMBRANE ANCHOR 1; PRIMA1 PRIMA Number Sign 613852 FUCOSYLTRANSFERASE 6 DEFICIENCY Caret 613853 MOVED TO 605376 Number Sign 613854 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3, FORMERLY; DTGA3, FORMERLY Number Sign 613855 EPISODIC ATAXIA, TYPE 5; EA5 Number Sign 613856 ACHROMATOPSIA 4; ACHM4 Percent 613857 OROFACIAL CLEFT 13; OFC13 Asterisk 613858 PROTEASE, SERINE, 56; PRSS56 Asterisk 613859 UROMODULIN-LIKE 1; UMODL1 Number Sign 613860 FICOLIN 3 DEFICIENCY FCN3 DEFICIENCY;; LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3; LCAPD3 Number Sign 613861 RETINITIS PIGMENTOSA 59; RP59 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ibb, INCLUDED; CDG1BB, INCLUDED Number Sign 613862 RETINITIS PIGMENTOSA 38; RP38 ROD-CONE DYSTROPHY, CHILDHOOD-ONSET Number Sign 613863 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 GEFS+, TYPE 7; GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B, INCLUDED; FEB3B, INCLUDED Asterisk 613864 ZINC FINGER PROTEIN 317; ZNF317 KIAA1588 Number Sign 613865 DEAFNESS, AUTOSOMAL RECESSIVE 61; DFNB61 Asterisk 613866 HRAS-LIKE SUPPRESSOR 2; HRASLS2 Asterisk 613867 PHOSPHOLIPASE A2, GROUP XVI; PLA2G16 HRAS-LIKE SUPPRESSOR 3; HRASLS3; HRSL3;; HREV107;; HREV107-1 Asterisk 613868 SOLUTE CARRIER FAMILY 14 (UREA TRANSPORTER), MEMBER 1; SLC14A1 UREA TRANSPORTER, ERYTHROCYTE; UTE;; UT11;; UTB, MOUSE, HOMOLOG OF; UTB Number Sign 613869 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED Number Sign 613870 HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD Asterisk 613871 FUMARYLACETOACETATE HYDROLASE; FAH FUMARYLACETOACETASE Asterisk 613872 COAGULATION FACTOR X; F10 Number Sign 613873 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17 Number Sign 613874 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18 Caret 613875 MOVED TO 192600 Number Sign 613876 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20 Number Sign 613877 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4; FPLD4 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS Asterisk 613878 COAGULATION FACTOR VII; F7 FACTOR VII Asterisk 613879 THYROTROPIN-RELEASING HORMONE; TRH Asterisk 613880 BROMO-ADJACENT HOMOLOGY DOMAIN-CONTAINING PROTEIN 1; BAHD1 BAH DOMAIN-CONTAINING PROTEIN 1;; KIAA0945 Number Sign 613881 CARDIOMYOPATHY, DILATED, 1HH; CMD1HH Number Sign 613882 HYPOMAGNESEMIA 6, RENAL; HOMG6 Asterisk 613883 KELL BLOOD GROUP METALLOENDOPEPTIDASE; KEL KELL BLOOD GROUP GLYCOPROTEIN;; KELL BLOOD GROUP ANTIGEN Number Sign 613884 CHROMOSOME 13q14 DELETION SYNDROME CHROMOSOME 13q DELETION SYNDROME Number Sign 613885 MECKEL SYNDROME, TYPE 8; MKS8 Number Sign 613886 OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD Number Sign 613887 CATARACT 36; CTRCT36 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4; CATC4 Asterisk 613888 RAS HOMOLOG GENE FAMILY, MEMBER T1; RHOT1 MITOCHONDRIAL RHO 1; MIRO1;; ARHT1 Asterisk 613889 RAS HOMOLOG GENE FAMILY, MEMBER T2; RHOT2 MITOCHONDRIAL RHO 2; MIRO2;; ARHT2 Asterisk 613890 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2; HSD3B2 3-BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-ISOMERASE, TYPE II;; 3-BETA-HSD, ADRENAL AND GONADAL TYPE Asterisk 613891 URIDINE MONOPHOSPHATE SYNTHETASE; UMPS OROTATE PHOSPHORIBOSYLTRANSFERASE; OPRT;; OROTIDYLIC DECARBOXYLASE; ODC Asterisk 613892 DPY19-LIKE 1; DPY19L1 KIAA0877 Asterisk 613893 DPY19-LIKE 2; DPY19L2 Asterisk 613894 DPY19-LIKE 3; DPY19L3 Asterisk 613895 DPY19-LIKE 4; DPY19L4 Asterisk 613896 BISPHOSPHOGLYCERATE MUTASE; BPGM 2,3-BISPHOSPHOGLYCERATE PHOSPHATASE;; 2,3-BPG PHOSPHATASE;; 2,3-DIPHOSPHOGLYCERATE MUTASE; DPGM Asterisk 613897 FANCF GENE; FANCF Asterisk 613898 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE; HMGCL HMG-CoA LYASE;; HL Asterisk 613899 FANCC GENE; FANCC FAC; FACC Asterisk 613900 TRANSGLUTAMINASE 6; TGM6 TG6;; TRANSGLUTAMINASE Y; TGY Asterisk 613901 RNA 2-PRIME,3-PRIME CYCLIC PHOSPHATE AND 5-PRIME-OH LIGASE; RTCB CHROMOSOME 22 OPEN READING FRAME 28; C22ORF28;; HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 117; HSPC117 Asterisk 613902 ZINC FINGER PROTEIN 503; ZNF503 NOCA-LIKE ZINC FINGER PROTEIN 1; NOLZ1;; NLZ2;; ZINC FINGER ELBOW-RELATED PROLINE DOMAIN PROTEIN 2; ZEPPO2; ZPO2 Asterisk 613903 ZINC FINGER PROTEIN 540; ZNF540 Asterisk 613904 ZINC FINGER PROTEIN 569; ZNF569 Asterisk 613905 ZINC FINGER PROTEIN 606; ZNF606 ZNF328;; KIAA1852 Asterisk 613906 ZINC FINGER PROTEIN 641; ZNF641 Asterisk 613907 ZINC FINGER PROTEIN 652; ZNF652 KIAA0924 Number Sign 613908 SPINOCEREBELLAR ATAXIA 35; SCA35 Percent 613909 SPINOCEREBELLAR ATAXIA 32; SCA32 Asterisk 613910 ZINC FINGER PROTEIN 480; ZNF480 Asterisk 613911 ZINC FINGER PROTEIN 496; ZNF496 NSD1-INTERACTING ZINC FINGER PROTEIN 1; NIZP1;; ZFP496 Number Sign 613912 COMPLEMENT FACTOR D DEFICIENCY; CFDD FACTOR D DEFICIENCY Percent 613913 LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS; APLDC3 LIPODYSTROPHY, PARTIAL, ACQUIRED, ASSOCIATED WITH C3 NEPHRITIC FACTOR Asterisk 613914 ZINC FINGER PROTEIN 746; ZNF746 PARKIN-INTERACTING SUBSTRATE; PARIS Asterisk 613915 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 42: ZBTB42 ZNF925 Number Sign 613916 DEAFNESS, AUTOSOMAL RECESSIVE 89; DFNB89 Asterisk 613917 MUCIN 22; MUC22 PANBRONCHIOLITIS-RELATED MUCIN-LIKE 1; PBMUCL1 Asterisk 613918 HLA COMPLEX GROUP 22; HCG22 PANBRONCHIOLITIS-RELATED MUCIN-LIKE 2; PBMUCL2 Asterisk 613919 KINESIN FAMILY MEMBER 6; KIF6 Asterisk 613920 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 5; COA5 CHROMOSOME 2 OPEN READING FRAME 64; C2ORF64;; PET191, S. CEREVISIAE, HOMOLOG OF; PET191 Asterisk 613921 LIPASE FAMILY, MEMBER J; LIPJ LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 1; LIPL1 Asterisk 613922 LIPASE FAMILY, MEMBER K; LIPK LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 2; LIPL2 Asterisk 613923 LIPASE FAMILY, MEMBER M; LIPM LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 3; LIPL3 Asterisk 613924 LIPASE FAMILY, MEMBER N; LIPN LIPASE-LIKE ABHYDROLASE DOMAIN-CONTAINING PROTEIN 4; LIPL4 Number Sign 613925 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A Number Sign 613926 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B Asterisk 613927 COMPLEMENT COMPONENT 2; C2 Asterisk 613928 DIFFUSE PANBRONCHIOLITIS CRITICAL REGION GENE 1; DPCR1 CHROMOSOME 6 OPEN READING FRAME 37; C6ORF37 Asterisk 613929 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 4; SPINK4 PEC60 Percent 613930 ALOPECIA-MENTAL RETARDATION SYNDROME 3; APMR3 Asterisk 613931 TARGET OF EGR1; TOE1 Asterisk 613932 TNNI3-INTERACTING KINASE; TNNI3K CARDIAC TROPONIN I-INTERACTING KINASE Percent 613933 ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD ACACA DEFICIENCY;; ACC1 DEFICIENCY Asterisk 613934 TRANSMEMBRANE PROTEIN 25; TMEM25 Asterisk 613935 TRANSMEMBRANE PROTEIN 74; TMEM74 Asterisk 613936 TRANSMEMBRANE PROTEIN 102; TMEM102 COMMON BETA CHAIN-ASSOCIATED PROTEIN; CBAP Asterisk 613937 TRANSMEMBRANE PROTEIN 184C; TMEM184C TRANSMEMBRANE PROTEIN 34; TMEM34 Percent 613938 PARASOMNIA, SLEEPWALKING TYPE; PSMNSW PARASOMNIA, SLEEP TERRORS TYPE, INCLUDED; PSMNST, INCLUDED Asterisk 613939 SPERMATOGENESIS-ASSOCIATED PROTEIN 20; SPATA20 SPERM-SPECIFIC PROTEIN 411; SSP411 Asterisk 613940 SPERMATOGENESIS-ASSOCIATED PROTEIN 5; SPATA5 SPERMATOGENESIS-ASSOCIATED FACTOR; SPAF Asterisk 613941 SERINE PROTEASE INHIBITOR, KUNITZ-TYPE, 3; SPINT3 Asterisk 613942 SAD1 AND UNC84 DOMAIN-CONTAINING PROTEIN 5; SUN5 SUN DOMAIN-CONTAINING PROTEIN 5;; TESTIS- AND SPERMATOGENESIS-RELATED GENE 4; TSARG4;; SPERM-ASSOCIATED ANTIGEN 4-LIKE PROTEIN; SPAG4L;; SPAG4-LIKE PROTEIN Number Sign 613943 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8; ARCI8 LAMELLAR ICHTHYOSIS, LATE-ONSET;; ICHTHYOSIS, LAMELLAR, 4, FORMERLY; LI4, FORMERLY Percent 613944 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2; IGAN2 Asterisk 613945 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, BETA; DNAJC5B CYSTEINE STRING PROTEIN, BETA;; CSP-BETA Asterisk 613946 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 5, GAMMA; DNAJC5G CYSTEINE STRING PROTEIN, GAMMA;; CSP-GAMMA Asterisk 613947 SPERMATOGENESIS-ASSOCIATED PROTEIN 6; SPATA6 SPERMATOGENESIS-RELATED FACTOR 1, RAT, HOMOLOG OF; SRF1;; HASH, RAT, HOMOLOG OF; HASH Asterisk 613948 SPERMATOGENESIS-ASSOCIATED PROTEIN 8; SPATA8 SPERMATOGENESIS-RELATED GENE 8; SRG8 Number Sign 613949 OKT4 EPITOPE DEFICIENCY T4 EPITOPE DEFICIENCY Number Sign 613950 SCHIZOPHRENIA 15; SCZD15 SCHIZOPHRENIA 15 WITH OR WITHOUT AN AFFECTIVE DISORDER;; SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED Number Sign 613951 FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP Asterisk 613952 TERMINAL NUCLEOTIDYLTRANSFERASE 5C; TENT5C FAMILY WITH SEQUENCE SIMILARITY 46, MEMBER C; FAM46C Number Sign 613953 IMMUNODEFICIENCY 51; IMD51 CANDIDIASIS, FAMILIAL, 5, FORMERLY; CANDF5, FORMERLY Number Sign 613954 AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14 Number Sign 613955 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2; PLCA2 Number Sign 613956 CANDIDIASIS, FAMILIAL, 6; CANDF6 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT Number Sign 613957 SPERMATOGENIC FAILURE 8; SPGF8 Number Sign 613958 SPERMATOGENIC FAILURE 9; SPGF9 GLOBOZOOSPERMIA, COMPLETE;; GLOBOZOOSPERMIA, TOTAL Number Sign 613959 SCHIZOPHRENIA 16; SCZD16 SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 7q36.3-RELATED;; CHROMOSOME 7q36.3 DUPLICATION SYNDROME, 362-KB Number Sign 613960 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III; CDG3 CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE III;; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF4 DEFICIENCY Asterisk 613961 TASTE RECEPTOR, TYPE 2, MEMBER 19; TAS2R19 T2R19;; T2R48 Asterisk 613962 TASTE RECEPTOR, TYPE 2, MEMBER 20; TAS2R20 T2R56 Asterisk 613963 TASTE RECEPTOR, TYPE 2, MEMBER 30; TAS2R30 T2R30;; T2R47 Asterisk 613964 TASTE RECEPTOR, TYPE 2, MEMBER 40; TAS2R40 T2R40 Asterisk 613965 TASTE RECEPTOR, TYPE 2, MEMBER 41; TAS2R41 T2R59 Asterisk 613966 TASTE RECEPTOR, TYPE 2, MEMBER 42; TAS2R42 T2R42;; T2R55 Asterisk 613967 TASTE RECEPTOR, TYPE 2, MEMBER 45; TAS2R45 T2R45 Asterisk 613968 TASTE RECEPTOR, TYPE 2, MEMBER 60; TAS2R60 T2R60 Percent 613969 MYOPIA 19, AUTOSOMAL DOMINANT; MYP19 Number Sign 613970 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6 Caret 613971 MOVED TO 245570 Number Sign 613972 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6 Asterisk 613973 CYCLIC GMP-AMP SYNTHASE; CGAS MAB21 DOMAIN-CONTAINING PROTEIN 1; MB21D1;; CHROMOSOME 6 OPEN READING FRAME 150; C6ORF150 Asterisk 613974 DEAD BOX POLYPEPTIDE 60; DDX60 Asterisk 613975 INTERFERON-INDUCED PROTEIN 44-LIKE; IFI44L IFI44-LIKE Asterisk 613976 FANCE GENE; FANCE Number Sign 613977 CYANOSIS, TRANSIENT NEONATAL; TNCY Number Sign 613978 HEMOGLOBIN H DISEASE; HBH ALPHA-THALASSEMIA, HEMOGLOBIN H TYPE;; HEMOGLOBIN H DISEASE, DELETIONAL HEMOGLOBIN H DISEASE, NONDELETIONAL, INCLUDED Asterisk 613979 PRECURSOR mRNA-PROCESSING FACTOR 6, S. CEREVISIAE, HOMOLOG OF; PRPF6 PRP6;; ANDROGEN RECEPTOR N-TERMINAL DOMAIN-TRANSACTIVATING PROTEIN 1; ANT1;; TOM;; CHROMOSOME 20 OPEN READING FRAME 14; C20ORF14 Number Sign 613980 ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9 Number Sign 613981 HYPOTRICHOSIS 3; HYPT3 HYPOTRICHOSIS SIMPLEX OF THE SCALP 2; HTSS2 Number Sign 613982 OSTEOGENESIS IMPERFECTA, TYPE VI; OI6 Number Sign 613983 RETINITIS PIGMENTOSA 60; RP60 Asterisk 613984 FANCD2 GENE; FANCD2 Number Sign 613985 BETA-THALASSEMIA Number Sign 613986 PITUITARY HORMONE DEFICIENCY, COMBINED, 6; CPHD6 Number Sign 613987 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; DKCB2 Number Sign 613988 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 Number Sign 613989 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED Number Sign 613990 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3 Asterisk 613991 CDC42-BINDING PROTEIN KINASE, GAMMA; CDC42BPG MYOTONIC DYSTROPHY KINASE-RELATED CDC42-BINDING KINASE, GAMMA; MRCKG;; MRCK-GAMMA Asterisk 613992 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, DELTA; PPP2R2D B55-DELTA;; B-DELTA Asterisk 613993 MYOSIN, LIGHT CHAIN 7, REGULATORY; MYL7 MYOSIN LIGHT CHAIN 2, ATRIAL; MYL2A;; MLC2A;; MYLC2A Asterisk 613994 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 4; NBPF4 Asterisk 613995 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 5; NBPF5 Asterisk 613996 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 6; NBPF6 Asterisk 613997 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 7; NBPF7 Asterisk 613998 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 8; NBPF8 Asterisk 613999 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 9; NBPF9 Asterisk 614000 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 10; NBPF10 Asterisk 614001 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 11; NBPF11 Caret 614002 MOVED TO 608607 Asterisk 614003 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 14; NBPF14 Caret 614004 MOVED TO 610414 Asterisk 614005 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 16; NBPF16 Asterisk 614006 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 19; NBPF19 Asterisk 614007 NEUROBLASTOMA BREAKPOINT FAMILY, MEMBER 20; NBPF20 Number Sign 614008 NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS; PSCOO Number Sign 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13 BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR Asterisk 614010 INOSITOL MONOPHOSPHATASE DOMAIN-CONTAINING PROTEIN 1; IMPAD1 MYOINOSITOL MONOPHOSPHATASE A3; IMPA3;; GOLGI 3-PRIME PHOSPHOADENOSINE 5-PRIME PHOSPHATE 3-PRIME PHOSPHATASE; GPAPP;; LITHIUM-INHIBITED PHOSPHOMONOESTERASE Asterisk 614011 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 4; ERVK-4 HUMAN ENDOGENOUS RETROVIRUS K I;; HERV-KI Asterisk 614012 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 5; ERVK-5 HUMAN ENDOGENOUS RETROVIRUS K II;; HERV-KII Asterisk 614013 ENDOGENOUS RETROVIRUS GROUP K, MEMBER 7; ERVK-7 HUMAN ENDOGENOUS RETROVIRUS K III;; HERV-KIII;; HERV-K102 Asterisk 614014 RIBONUCLEASE, RNase A FAMILY, 9; RNASE9 Asterisk 614015 DIACYLGLYCEROL LIPASE, ALPHA; DAGLA DAGL-ALPHA;; DGL-ALPHA;; DGLA;; KIAA0659 Asterisk 614016 DIACYLGLYCEROL LIPASE, BETA; DAGLB DAGL-BETA;; DGL-BETA;; DGLB Number Sign 614017 CILIARY DYSKINESIA, PRIMARY, 16; CILD16 CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS Number Sign 614018 EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 Number Sign 614019 LISSENCEPHALY 4; LIS4 LISSENCEPHALY 4 WITH MICROCEPHALY Number Sign 614020 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14 Number Sign 614021 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3 Number Sign 614022 ATRIAL FIBRILLATION, FAMILIAL, 10; ATFB10 Number Sign 614023 PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Number Sign 614024 PROTEIN Z DEFICIENCY Number Sign 614025 HEPATIC LIPASE DEFICIENCY LIPC DEFICIENCY;; HL DEFICIENCY Asterisk 614026 KINESIN FAMILY MEMBER 26B; KIF26B Asterisk 614027 INSULINOMA-ASSOCIATED 2; INSM2 INSULINOMA-ASSOCIATED GENE 6; IA6 Number Sign 614028 APOLIPOPROTEIN C-III DEFICIENCY HYPERALPHALIPOPROTEINEMIA 2; HALP2 Asterisk 614029 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER A; SPDYA SPEEDY, XENOPUS, HOMOLOG OF, A; SPDYA;; SPY1;; RAPID INDUCER OF G2/M PROGRESSION IN OOCYTES, XENOPUS, HOMOLOG OF, A;; RINGO A Asterisk 614030 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER C; SPDYC SPEEDY, XENOPUS, HOMOLOG OF, C;; RAPID INDUCER OF G2/M PROGRESSION IN OOCYTES, XENOPUS, HOMOLOG OF, C;; RINGO C;; SPEEDY B4 Asterisk 614031 RAN-BINDING PROTEIN 10; RANBP10 KIAA1464 Asterisk 614032 TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 4; TOX4 LANGERHANS CELL PROTEIN 1; LCP1;; KIAA0737 NULL 614033 HYDROXYACYL GLUTATHIONE HYDROLASE DEFICIENCY GLYOXALASE II DEFICIENCY Number Sign 614034 HEME OXYGENASE 1 DEFICIENCY; HMOX1D Number Sign 614035 DEAFNESS, AUTOSOMAL RECESSIVE 29; DFNB29 NULL 614036 ALPHA-2-MACROGLOBULIN DEFICIENCY; A2MD NULL 614037 LEUKOTRIENE C4 SYNTHASE DEFICIENCY LTC4 SYNTHASE DEFICIENCY Number Sign 614038 LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA EMBERGER SYNDROME Number Sign 614039 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1 Asterisk 614040 ZINC FINGER PROTEIN 467; ZNF467 EZI, MOUSE, HOMOLOG OF; EZI;; ZFP467 Asterisk 614041 RB1 GENE; RB1 p105-Rb Number Sign 614042 MOYAMOYA DISEASE 5; MYMY5 Asterisk 614043 LEUCINE-RICH REPEAT IN FLII-INTERACTING PROTEIN 2; LRRFIP2 NULL 614044 TRYPSINOGEN DEFICIENCY Asterisk 614045 FAMILY WITH SEQUENCE SIMILARITY 129, MEMBER B; FAM129B MELANOMA INVASION BY ERK; MINERVA Asterisk 614046 ARGININE- AND GLUTAMATE-RICH PROTEIN 1; ARGLU1 Asterisk 614047 METHYLENETETRAHYDROFOLATE DEHYDROGENASE 2-LIKE, NADP(+)-DEPENDENT; MTHFD2L MTHFD2-LIKE Asterisk 614048 KIAA1324-LIKE; KIAA1324L EIG121-LIKE; EIG121L Number Sign 614049 ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11 Number Sign 614050 ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12 Caret 614051 MOVED TO 212066 Number Sign 614052 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE;; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY Number Sign 614053 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE Asterisk 614054 RIBOSOMAL MODIFICATION PROTEIN RimK-LIKE FAMILY, MEMBER B; RIMKLB N-ACETYLASPARTYL-GLUTAMATE SYNTHETASE; NAAGS;; NAAG SYNTHETASE;; KIAA1238 NULL 614055 ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY; ACAT2D ACAT2 DEFICIENCY Asterisk 614056 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 26; PPP1R26 KIAA0649 GENE; KIAA0649;; DRIM-INTERACTING PROTEIN Asterisk 614057 MICRO RNA 409; MIR409 miRNA409;; MIRN409;; MIR409-5p MICRO RNA 409-3p, INCLUDED; MIR409-3p, INCLUDED Asterisk 614058 KETOHEXOKINASE; KHK FRUCTOKINASE, HEPATIC Asterisk 614059 MICRO RNA 338; MIR338 miRNA338;; MIRN338 Asterisk 614060 HOXA DISTAL TRANSCRIPT ANTISENSE RNA; HOTTIP HOXA TRANSCRIPT AT THE DISTAL TIP;; NONCODING RNA 213; NCRNA00213 Asterisk 614061 OLFACTOMEDIN 4; OLFM4 GCSF-STIMULATED CLONE 1; GC1;; GW112 Asterisk 614062 CDC42-BINDING PROTEIN KINASE, BETA; CDC42BPB CDC42BP-BETA;; MYOTONIC DYSTROPHY KINASE-RELATED CDC42-BINDING KINASE, BETA; MRCKB;; MRCK-BETA Number Sign 614063 N-ACETYLASPARTATE DEFICIENCY; NACED NAA DEFICIENCY;; HYPOACETYLASPARTIA Asterisk 614064 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 24; ZBTB24 POZ-, AT HOOK-, AND ZINC FINGER-CONTAINING PROTEIN 2; PATZ2;; ZINC FINGER PROTEIN 450; ZNF450;; KIAA0441 Number Sign 614065 MYOPATHY, DISTAL, 4; MPD4 WILLIAMS DISTAL MYOPATHY Number Sign 614066 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 5, FORMERLY; CPSQ5, FORMERLY Number Sign 614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY Asterisk 614068 INTRAFLAGELLAR TRANSPORT 43, CHLAMYDOMONAS, HOMOLOG OF; IFT43 CHROMOSOME 14 OPEN READING FRAME 179; C14ORF179 Number Sign 614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2 Number Sign 614070 PSORIASIS 13, SUSCEPTIBILITY TO; PSORS13 Asterisk 614071 MYOCARDIAL ZONULA ADHERENS PROTEIN; MYZAP MYOCARDIUM-ENRICHED ZO1-ASSOCIATED PROTEIN; MYOZAP;; GRINL1A COMPLEX LOCUS UPSTREAM GENE; GUP;; GUP1 GRINL1A COMPLEX LOCUS, INCLUDED; GCOM1, INCLUDED;; GRINL1A COMPLEX TRANSCRIPTION UNIT, INCLUDED;; MYZAP-POLR2M LOCUS, INCLUDED;; GRINL1A COMPLEX LOCUS COMBINED TRANSCRIPT 1, INCLUDED; GCOM1, INCLUDED Number Sign 614072 HERMANSKY-PUDLAK SYNDROME 3; HPS3 Number Sign 614073 HERMANSKY-PUDLAK SYNDROME 4; HPS4 Number Sign 614074 HERMANSKY-PUDLAK SYNDROME 5; HPS5 Number Sign 614075 HERMANSKY-PUDLAK SYNDROME 6; HPS6 Number Sign 614076 HERMANSKY-PUDLAK SYNDROME 7; HPS7 Number Sign 614077 HERMANSKY-PUDLAK SYNDROME 8; HPS8 Number Sign 614078 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE GPAPP DEFICIENCY Number Sign 614079 ASPERGILLOSIS, SUSCEPTIBILITY TO Number Sign 614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3; GPIBD3 Number Sign 614081 ANHAPTOGLOBINEMIA; AHP AHAPTOGLOBINEMIA HYPOHAPTOGLOBINEMIA, INCLUDED Number Sign 614082 FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG Number Sign 614083 FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL Asterisk 614084 WEE1, S. POMBE, HOMOLOG OF, 2; WEE2 WEE1B Asterisk 614085 RAD9-, RAD1-, AND HUS1-INTERACTING NUCLEAR ORPHAN 1; RHNO1 RHINO;; CHROMOSOME 12 OPEN READING FRAME 32; C12ORF32 Asterisk 614086 MULTICILIATE DIFFERENTIATION AND DNA SYNTHESIS-ASSOCIATED CELL CYCLE PROTEIN; MCIDAS IDAS;; MULTICILIN; MCI Caret 614087 MOVED TO 227650 AND 609644 Asterisk 614088 INTRACELLULAR ADHESION MOLECULE 4; ICAM4 CD242 ANTIGEN; CD242;; LW GENE; LW Number Sign 614089 ATRIAL SEPTAL DEFECT 3; ASD3 Number Sign 614090 SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO; SSS3 Number Sign 614091 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 SHORT RIB-POLYDACTYLY SYNDROME, TYPE V; SRPS5 SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC, INCLUDED; SRTD7/20, INCLUDED Asterisk 614092 RAB-INTERACTING LYSOSOMAL PROTEIN-LIKE 1; RILPL1 RILP-LIKE PROTEIN 1; RLP1;; GAPDH COMPETITOR OF SIAH PROTEIN ENHANCES LIFE; GOSPEL Asterisk 614093 RAB-INTERACTING LYSOSOMAL PROTEIN-LIKE 2; RILPL2 RILP-LIKE PROTEIN 2; RLP2 Asterisk 614094 MARVEL DOMAIN-CONTAINING PROTEIN 3; MARVELD3 Asterisk 614095 PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2 PEPCK2 Number Sign 614096 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8 CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE Number Sign 614097 ACATALASEMIA ACATALASIA;; CATALASE DEFICIENCY Number Sign 614098 KEPPEN-LUBINSKY SYNDROME; KPLBS Number Sign 614099 CRANIOECTODERMAL DYSPLASIA 3; CED3 Percent 614100 CUTIS LAXA, NEONATAL, WITH MARFANOID PHENOTYPE CUTIS LAXA-MARFANOID SYNDROME Percent 614101 PLASMA FIBRONECTIN DEFICIENCY Number Sign 614102 IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY; IGKCD KAPPA CHAIN DEFICIENCY Percent 614103 LIPEDEMA Number Sign 614104 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7 Number Sign 614105 METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD MMSDH DEFICIENCY Asterisk 614106 MUSCULAR LMNA-INTERACTING PROTEIN; MLIP CHROMOSOME 6 OPEN READING FRAME 142; C6ORF142 Asterisk 614107 KARYOPHERIN ALPHA-7; KPNA7 IMPORTIN ALPHA-8 Asterisk 614108 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 2; BPIFB2 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 1; BPIL1;; BPI-LIKE 1;; RYSR Asterisk 614109 BPI FOLD-CONTAINING PROTEIN, FAMILY C; BPIFC BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 2; BPIL2;; BPI-LIKE 2 Asterisk 614110 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 6; BPIFB6 BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3; BPIL3 Number Sign 614111 PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD Asterisk 614112 MICRO RNA 320A; MIR320A miRNA320A;; MIRN320A Number Sign 614113 MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2 Number Sign 614114 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2 Number Sign 614115 CORTICAL MALFORMATIONS, OCCIPITAL; OCCM Number Sign 614116 NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E HSN IE;; NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA Asterisk 614117 EXOCYST COMPLEX COMPONENT 3-LIKE 1; EXOC3L1 EXOC3L Asterisk 614118 TEASHIRT ZINC FINGER HOMEOBOX 2; TSHZ2 Asterisk 614119 TEASHIRT ZINC FINGER HOMEOBOX 3; TSHZ3 KIAA1474 Number Sign 614120 HYDROLETHALUS SYNDROME 2; HLS2 Asterisk 614121 TERMINAL NUCLEOTIDYLTRANSFERASE 2; TENT2 POLY(A) POLYMERASE-ASSOCIATED DOMAIN-CONTAINING PROTEIN 4; PAPD4;; TERMINAL URIDYLTRANSFERASE 2; TUT2;; GLD2 Number Sign 614122 CHITOTRIOSIDASE DEFICIENCY; CHITD Asterisk 614123 TRANSMEMBRANE AND COILED-COIL DOMAINS PROTEIN 1; TMCO1 Asterisk 614124 GLYCEROPHOSPHOCHOLINE PHOSPHODIESTERASE GDE1, S. CEREVISIAE, HOMOLOG OF; GPCPD1 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 5; GDE5;; KIAA1434;; ENDOMETRIAL DIFFERENTIATION 3; ED13 Asterisk 614125 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 4; DPPA4 EMBRYONIC STEM CELL-ASSOCIATED TRANSCRIPT 15-1;; ECAT15-1 Asterisk 614126 MOLYBDENUM COFACTOR SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 1; MOSC1 MOCO SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 1;; MOSC DOMAIN-CONTAINING PROTEIN 1;; MITOCHONDRIAL AMIDOXIME-REDUCING COMPONENT 1; MARC1 Asterisk 614127 MOLYBDENUM COFACTOR SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 2; MOSC2 MOCO SULFURASE C-TERMINAL DOMAIN-CONTAINING PROTEIN 2;; MOSC DOMAIN-CONTAINING PROTEIN 2;; MITOCHONDRIAL AMIDOXIME-REDUCING COMPONENT 2; MARC2 Number Sign 614128 LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD Number Sign 614129 PERRAULT SYNDROME 3; PRLTS3 DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY; DFNB81, FORMERLY Asterisk 614130 ADENOSINE DEAMINASE DOMAIN-CONTAINING PROTEIN 1, TESTIS-SPECIFIC; ADAD1 TESTIS NUCLEAR RNA-BINDING PROTEIN; TENR Number Sign 614131 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6; FSGS6 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6 Caret 614132 MOVED TO 213980 Asterisk 614133 HEPACAM FAMILY MEMBER 2; HEPACAM2 MITOTIC KINETICS REGULATOR; MIKI Number Sign 614134 STICKLER SYNDROME, TYPE IV; STL4 Number Sign 614135 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6 Asterisk 614136 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 8; TRAPPC8 KIAA1012 Asterisk 614137 BET3, S. CEREVISIAE, HOMOLOG-LIKE; BET3L TRAFFICKING PROTEIN PARTICLE COMPLEX 3-LIKE; TRAPPC3L Asterisk 614138 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 11; TRAPPC11 CHROMOSOME 4 OPEN READING FRAME 41; C4ORF41 Asterisk 614139 TRAFFICKING PROTEIN PARTICLE COMPLEX, SUBUNIT 12; TRAPPC12 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 15; TTC15 Asterisk 614140 SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED-COIL DOMAINS 1-LIKE; SPECC1L SPECC1-LIKE;; NY-REN-22;; KIAA0376 Asterisk 614141 TRIPARTITE MOTIF-CONTAINING PROTEIN 2; TRIM2 KIAA0517 Asterisk 614142 CUE DOMAIN-CONTAINING PROTEIN 2; CUEDC2 Asterisk 614143 IGF-LIKE FAMILY RECEPTOR 1; IGFLR1 TRANSMEMBRANE PROTEIN 149; TMEM149 Asterisk 614144 B9 DOMAIN-CONTAINING PROTEIN 1; B9D1 MKS1-RELATED PROTEIN 1; MKSR1 Asterisk 614145 COILED-COIL DOMAIN-CONTAINING PROTEIN 8; CCDC8 Asterisk 614146 CHROMOSOME 20 OPEN READING FRAME 194; C20ORF194 Asterisk 614147 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 8; C1QTNF8 CTRP8 Asterisk 614148 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 9B; C1QTNF9B CTRP9B Percent 614149 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9; NDNC9 ANONYCHIA-ONYCHOLYSIS, ISOLATED;; ONYCHODYSTROPHY;; NAIL DYSPLASIA Asterisk 614150 PROTEIN KINASE DOMAIN-CONTAINING PROTEIN, CYTOPLASMIC, MOUSE, HOMOLOG OF; PKDCC VERTEBRATE LONESOME KINASE; VLK;; SGK493 Asterisk 614151 RING FINGER AND WD REPEAT DOMAINS-CONTAINING PROTEIN 3; RFWD3 Number Sign 614152 DEAFNESS, AUTOSOMAL DOMINANT 64; DFNA64 Number Sign 614153 SPINOCEREBELLAR ATAXIA 36; SCA36 Asterisk 614154 NOP56, S. CEREVISIAE, HOMOLOG OF; NOP56 Asterisk 614155 MICRO RNA 1292; MIR1292 miRNA1292;; MIRN1292 Number Sign 614156 HYPERBILIVERDINEMIA; HBLVD GREEN JAUNDICE Number Sign 614157 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10; NDNC10 CLAW-SHAPED NAILS;; ONYCHAUXIS, HYPONYCHIA, AND ONYCHOLYSIS NULL 614158 BLEEDING DISORDER, PLATELET-TYPE, 14; BDPLT14 THROMBOXANE SYNTHETASE DEFICIENCY Asterisk 614159 ZINC FINGER PROTEIN 644; ZNF644 Number Sign 614160 MUSCLE HYPERTROPHY; MSLHP Asterisk 614161 PR DOMAIN-CONTAINING PROTEIN 5; PRDM5 PFM2 Number Sign 614162 IMMUNODEFICIENCY 31C; IMD31C CANDIDIASIS, FAMILIAL, 7; CANDF7;; CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT Number Sign 614163 DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO; DSPD Percent 614164 GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD Number Sign 614165 PARAGANGLIOMAS 5; PGL5 Percent 614166 MYOPIA 20, AUTOSOMAL DOMINANT; MYP20 Number Sign 614167 MYOPIA 21, AUTOSOMAL DOMINANT; MYP21 Asterisk 614168 PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1 PEPCK1;; PEPCK, CYTOSOLIC; PEPCKC Asterisk 614169 NEUROBEACHIN-LIKE 2; NBEAL2 KIAA0540 Number Sign 614170 BRITTLE CORNEA SYNDROME 2; BCS2 Number Sign 614171 HERMANSKY-PUDLAK SYNDROME 9; HPS9 Number Sign 614172 IMMUNODEFICIENCY 21; IMD21 DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY; DCML;; MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOMAC;; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA;; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS;; GATA2 DEFICIENCY Number Sign 614173 JOUBERT SYNDROME 13; JBTS13 Asterisk 614174 MEIOSIS-EXPRESSED GENE 1, MOUSE, HOMOLOG OF; MEIG1 Number Sign 614175 MECKEL SYNDROME, TYPE 10; MKS10 JOUBERT SYNDROME 34, INCLUDED; JBTS34, INCLUDED Asterisk 614176 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 28; ZFYVE28 LST2, C. ELEGANS, ORTHOLOG OF; LST2;; KIAA1643 Asterisk 614177 EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 4A; EFCAB4A CALCIUM RELEASE-ACTIVATED CALCIUM CHANNEL REGULATOR 2B; CRACR2B Asterisk 614178 CALCIUM RELEASE-ACTIVATED CALCIUM CHANNEL REGULATOR 2A; CRACR2A EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 4B; EFCAB4B Asterisk 614179 IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT 2; ISLR2 LEUCINE-RICH REPEAT DOMAIN- AND IMMUNOGLOBULIN DOMAIN-CONTAINING AXON EXTENSION PROTEIN; LINX;; KIAA1465 Number Sign 614180 RETINITIS PIGMENTOSA 61; RP61 Number Sign 614181 RETINITIS PIGMENTOSA 62; RP62 Asterisk 614182 HEART OF GLASS, ZEBRAFISH, HOMOLOG OF, 1; HEG1 KIAA1237 Asterisk 614183 DIS3 MITOTIC CONTROL, S. CEREVISIAE, HOMOLOG-LIKE; DIS3L DIS3-LIKE EXONUCLEASE 1; DIS3L1;; KIAA1955 Asterisk 614184 DIS3 MITOTIC CONTROL, S. CEREVISIAE, HOMOLOG-LIKE 2; DIS3L2 Number Sign 614185 GELEOPHYSIC DYSPLASIA 2; GPHYSD2 Number Sign 614186 LEBER CONGENITAL AMAUROSIS 16; LCA16 Percent 614187 HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS; HPPD Number Sign 614188 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES; CRSDA KREIBORG-PAKISTANI SYNDROME Asterisk 614189 GOLGIN A7 FAMILY, MEMBER B; GOLGA7B CHROMOSOME 10 OPEN READING FRAME 132; C10ORF132 Number Sign 614190 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3; PPNAD3 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD3 Asterisk 614191 DEP DOMAIN-CONTAINING PROTEIN 5; DEPDC5 KIAA0645 Caret 614192 MOVED TO 613675 Number Sign 614193 TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2; TFQTL2 Asterisk 614194 DEDICATOR OF CYTOKINESIS 6; DOCK6 KIAA1395 Number Sign 614195 CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS Number Sign 614196 NEPHROTIC SYNDROME, TYPE 6; NPHS6 Asterisk 614197 MITOCHONDRIAL CALCIUM UNIPORTER; MCU COILED-COIL DOMAIN-CONTAINING PROTEIN 109A; CCDC109A Number Sign 614198 MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE Number Sign 614199 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5 Percent 614200 BLEEDING DISORDER, PLATELET-TYPE, 9; BDPLT9 GLYCOPROTEIN Ia DEFICIENCY;; GP Ia DEFICIENCY;; COLLAGEN PLATELET RECEPTOR DEFICIENCY Number Sign 614201 BLEEDING DISORDER, PLATELET-TYPE, 11; BDPLT11 GLYCOPROTEIN VI DEFICIENCY;; GP VI DEFICIENCY Number Sign 614202 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15 Number Sign 614203 PARKINSON DISEASE 17; PARK17 Number Sign 614204 PSORIASIS 14, PUSTULAR; PSORS14 INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; DITRA;; GENERALIZED PUSTULAR PSORIASIS; GPP;; PSORP;; ACRODERMATITIS CONTINUA OF HALLOPEAU;; PALMOPLANTAR PUSTULOSIS Number Sign 614205 THREE M SYNDROME 3; 3M3 3M SYNDROME 3 Asterisk 614206 CHROMATIN TARGET OF PRMT1; CHTOP CHROMOSOME 1 OPEN READING FRAME 77; C1OORF77;; SMALL PROTEIN RICH IN ARGININE AND GLYCINE; SRAG;; FRIEND OF PRMT1; FOP Number Sign 614207 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17; MRT17;; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21; MRT21;; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8; GPIBD8 Percent 614208 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16; MRT16 Number Sign 614209 MECKEL SYNDROME, TYPE 9; MKS9 Percent 614210 LUNG CANCER SUSCEPTIBILITY 5; LNCR5 Percent 614211 DEAFNESS, AUTOSOMAL DOMINANT 33; DFNA33 Number Sign 614212 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4 Number Sign 614213 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C Asterisk 614214 KELCH-LIKE 6; KLHL6 FLJ00029 Asterisk 614215 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 1; ASCC1 ASC1 COMPLEX, 50-KD SUBUNIT;; p50 Asterisk 614216 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 2; ASCC2 ASC1 COMPLEX, 100-KD SUBUNIT;; p100 Asterisk 614217 ACTIVATING SIGNAL COINTEGRATOR 1 COMPLEX, SUBUNIT 3; ASCC3 ASC1 COMPLEX SUBUNIT, 200-KD SUBUNIT;; p200 Asterisk 614218 WD REPEAT-CONTAINING PROTEIN 81; WDR81 SORF2, C. ELEGANS, HOMOLOG OF; SORF2 Number Sign 614219 ADAMS-OLIVER SYNDROME 2; AOS2 Percent 614220 BILIARY CIRRHOSIS, PRIMARY, 4; PBC4 Percent 614221 BILIARY CIRRHOSIS, PRIMARY, 5; PBC5 Number Sign 614222 WARBURG MICRO SYNDROME 3; WARBM3 MICRO SYNDROME 3 Percent 614223 NARCOLEPSY 6, SUSCEPTIBILITY TO; NRCLP6 Number Sign 614224 RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS; RAMSVPS Number Sign 614225 WARBURG MICRO SYNDROME 2; WARBM2 MICRO SYNDROME 2 Number Sign 614226 HOLOPROSENCEPHALY 11; HPE11 Percent 614227 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3; HNFJ3 Number Sign 614228 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O Number Sign 614229 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11; SCAR11 Number Sign 614230 CHROMOSOME 8q21.11 DELETION SYNDROME Number Sign 614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS Asterisk 614232 11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II; HSD11B2 11-BETA-HSD;; HSD11, KIDNEY AND PLACENTAL TYPE; HSD11K;; HSD11, TYPE II Percent 614233 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1; FPH1 FPH Asterisk 614234 PITCHFORK, MOUSE, HOMOLOG OF; PIFO CHROMOSOME 1 OPEN READING FRAME 88; C1ORF88 Asterisk 614235 PDZ DOMAIN-CONTAINING PROTEIN 8; PDZD8 Asterisk 614236 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 7; SLC38A7 SODIUM-COUPLED NEUTRAL AMINO ACID TRANSPORTER 7; SNAT7 Percent 614237 HYPOTRICHOSIS 9; HYPT9 Percent 614238 HYPOTRICHOSIS 10; HYPT10 Asterisk 614239 FAMILY WITH SEQUENCE SIMILARITY 109, MEMBER A; FAM109A SESQUIPEDALIAN, DROSOPHILA, HOMOLOG OF, 1; SES1;; INOSITOL POLYPHOSPHATE PHOSPHATASE-INTERACTING PROTEIN, 27-KD, A; IPIP27A Asterisk 614240 FAMILY WITH SEQUENCE SIMILARITY 109, MEMBER B; FAM109B SESQUIPEDALIAN, DROSOPHILA, HOMOLOG OF, 2; SES2;; INOSITOL POLYPHOSPHATE PHOSPHATASE-INTERACTING PROTEIN, 27-KD, B; IPIP27B Asterisk 614241 LYSOCARDIOLIPIN ACYLTRANSFERASE 1; LCLAT1 ACYL-CoA:LYSOCARDIOLIPIN ACYLTRANSFERASE 1; ALCAT1;; 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 8; AGPAT8 Asterisk 614242 SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 9; SLC16A9 MONOCARBOXYLATE TRANSPORTER 9; MCT9 Asterisk 614243 5-OXOPROLINASE (ATP-HYDROLYZING); OPLAH 5-OXO-L-PROLINASE Asterisk 614244 PYRIDOXAL-DEPENDENT DECARBOXYLASE DOMAIN-CONTAINING PROTEIN 1; PDXDC1 KIAA0251 Asterisk 614245 ACYL-CoA SYNTHETASE FAMILY, MEMBER 3; ACSF3 Asterisk 614246 N-ALPHA-ACETYLTRANSFERASE 60, NatF CATALYTIC SUBUNIT; NAA60 NAT15 Asterisk 614247 MICRO RNA 519D; MIR519D miRNA519D;; MIRN519D Asterisk 614248 PSEUDOPODIUM-ENRICHED ATYPICAL KINASE 1 PEAK1;; SGK269;; NKF3 KINASE FAMILY MEMBER;; KIAA2002 Number Sign 614249 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18; MRT18 Number Sign 614250 NARCOLEPSY 7; NRCLP7 Number Sign 614251 PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18 Percent 614252 ANEURYSM, INTRACRANIAL BERRY, 11; ANIB11 Caret 614253 MOVED TO 204690 Number Sign 614254 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD MENTAL RETARDATION, AUTOSOMAL DOMINANT 8, FORMERLY; MRD8, FORMERLY Number Sign 614255 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; MRD9 Number Sign 614256 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10; MRD10 Number Sign 614257 MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11 Asterisk 614258 POLYMERASE III, RNA, SUBUNIT A; POLR3A RNA POLYMERASE III, SUBUNIT C1; RPC1;; RNA POLYMERASE III, 155-KD SUBUNIT;; RPC155 Asterisk 614259 WD REPEAT-CONTAINING PROTEIN 65; WDR65 Asterisk 614260 CHROMOSOME 9 OPEN READING FRAME 72; C9ORF72 Number Sign 614261 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP Number Sign 614262 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG Asterisk 614263 BACE1 ANTISENSE RNA: BACE1AS Asterisk 614264 RHO GTPase-ACTIVATING PROTEIN 30; ARHGAP30 Number Sign 614265 COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA Number Sign 614266 BARRETT ESOPHAGUS BARRETT METAPLASIA ADENOCARCINOMA OF ESOPHAGUS, INCLUDED Asterisk 614267 ACYL-CoA THIOESTERASE 6; ACOT6 Asterisk 614268 ADHESION G PROTEIN-COUPLED RECEPTOR F4; ADGRF4 G PROTEIN-COUPLED RECEPTOR 115; GPR115 Asterisk 614269 G PROTEIN-COUPLED RECEPTOR 153; GPR153 Asterisk 614270 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 65; CFAP65 COILED-COIL DOMAIN-CONTAINING PROTEIN 108; CCDC108 Asterisk 614271 COILED-COIL DOMAIN-CONTAINING PROTEIN 137; CCDC137 Asterisk 614272 FAST KINASE DOMAINS 5; FASTKD5 FAST KINASE DOMAIN-CONTAINING PROTEIN 5 Asterisk 614273 OLFACTORY RECEPTOR, FAMILY 4, SUBFAMILY C, MEMBER 46; OR4C46 Asterisk 614274 STRAWBERRY NOTCH, DROSOPHILA, HOMOLOG OF, 1; SBNO1 Asterisk 614275 ZINC FINGER PROTEIN 565; ZNF565 Asterisk 614276 PHOSPHOLIPASE C-LIKE 2; PLCL2 PHOSPHOLIPASE C-RELATED CATALYTICALLY INACTIVE PROTEIN 2; PRIP2;; KIAA1092 Asterisk 614277 UBIQUITIN-CONJUGATING ENZYME 2W; UBE2W UBC16, ARABIDOPSIS, HOMOLOG OF; UBC16 Number Sign 614278 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY; PAFAD Number Sign 614279 46,XY SEX REVERSAL 8; SRXY8 MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; TDD Percent 614280 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9; EJM9 Asterisk 614281 ENDOTHELIAL CELL ADHESION MOLECULE; ESAM ENDOTHELIAL CELL-SELECTIVE ADHESION MOLECULE Asterisk 614282 STROMAL CELL-DERIVED FACTOR 4; SDF4 CALCIUM-BINDING PROTEIN, 45-KD; CAB45 Asterisk 614283 GLUCOCORTICOID-INDUCED TRANSCRIPT 1; GLCCI1 THYMOCYTE/SPERMATOCYTE SELECTION 1; TSSN1 Number Sign 614284 STICKLER SYNDROME, TYPE V; STL5 Asterisk 614285 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 9; C1QTNF9 CTRP9;; C1QTNF9A Number Sign 614286 MYELODYSPLASTIC SYNDROME; MDS MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED Asterisk 614287 OFC1 CANDIDATE GENE 1; OFCC1 MRDS1 Asterisk 614288 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 11; ACAD11 Asterisk 614289 SUPPRESSOR OF LIN12-LIKE 2; SEL1L2 SEL1L-LIKE Number Sign 614290 TETRASOMY 18p ISOCHROMOSOME 18p SYNDROME Number Sign 614291 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4; BROVCA4 Number Sign 614292 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION; MCVD Number Sign 614293 HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 HYDATIDIFORM MOLE, COMPLETE Number Sign 614294 CHROMOSOME 15q25 DELETION SYNDROME Asterisk 614295 BICAUDAL C, DROSOPHILA, HOMOLOG OF, 1; BICC1 BICC Number Sign 614296 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION Asterisk 614297 CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12 Number Sign 614298 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION; MPAN Number Sign 614299 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2 Number Sign 614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY; MRT8, FORMERLY Asterisk 614301 ATAXIN 1-LIKE; ATXN1L BROTHER OF ATAXIN 1; BOAT; BOAT1;; BROTHER OF ATXN1 Number Sign 614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7 Number Sign 614303 EDICT SYNDROME; EDICT ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME;; KERATOCONUS WITH CATARACT; KTCNCT;; KERATOCONUS, FAMILIAL, WITH EARLY-ONSET ANTERIOR POLAR CATARACT Asterisk 614304 MICRO RNA 137; MIR137 miRNA137;; MIRN137 Number Sign 614305 SCLEROSTEOSIS 2; SOST2 Number Sign 614306 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT Number Sign 614307 ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD AMACR DEFICIENCY Asterisk 614308 FORMIMINOTRANSFERASE CYCLODEAMINASE N-TERMINAL-LIKE PROTEIN 1; FTCDNL1 FORMIMINOTRANSFERASE N-TERMINAL SUBDOMAIN-CONTAINING GENE; FONG Asterisk 614309 tRNA METHYLTRANSFERASE 44, S. CEREVISIAE, HOMOLOG OF; TRMT44 METHYLTRANSFERASE-LIKE 19; METTL19 Asterisk 614310 CENTROSOMAL PROTEIN, 70-KD; CEP70 Asterisk 614311 SYNAPSE DIFFERENTIATION-INDUCED GENE 1; SYNDIG1 TRANSMEMBRANE PROTEIN 90B; TMEM90B Asterisk 614312 ZINC FINGER MYND-CONTAINING PROTEIN 15; ZMYND15 Asterisk 614313 ACYL-CoA THIOESTERASE 1; ACOT1 Asterisk 614314 ACYL-CoA THIOESTERASE 4; ACOT4 Asterisk 614315 ACYL-CoA THIOESTERASE 12; ACOT12 CYTOSOLIC ACETYL-CoA HYDROLASE; CACH Asterisk 614316 VTI1, S. CEREVISIAE, HOMOLOG OF, A; VTI1A VTI1RP2 VTI1A/TCF7L2 FUSION GENE, INCLUDED Percent 614317 VESICOURETERAL REFLUX 4; VUR4 Percent 614318 VESICOURETERAL REFLUX 5; VUR5 Percent 614319 VESICOURETERAL REFLUX 6; VUR6 Number Sign 614320 PANCREATIC CANCER, SUSCEPTIBILITY TO, 4; PNCA4 Number Sign 614321 MYOPATHY, DISTAL, TATEYAMA TYPE; MPDT Number Sign 614322 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY Percent 614323 NEVOID HYPERMELANOSIS, LINEAR AND WHORLED; LWNH HYPERPIGMENTATION, PROGRESSIVE CRIBRIFORM AND ZOSTERIFORM, INCLUDED; PCZH, INCLUDED Number Sign 614324 OVARIAN DYSGENESIS 3; ODG3 Number Sign 614325 PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2 Number Sign 614326 FEINGOLD SYNDROME 2; FGLDS2 BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY Number Sign 614327 TUMOR PREDISPOSITION SYNDROME; TPDS Number Sign 614328 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 Percent 614329 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31; MRT31 Asterisk 614330 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 2; C1QL2 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 10; C1QTNF10;; CTRP10 Number Sign 614331 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6; HNPCC6 COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 Number Sign 614332 CHROMOSOME 2p16.3 DELETION SYNDROME SCHIZOPHRENIA 17, INCLUDED; SCZD17, INCLUDED Percent 614333 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 29; MRT29 Asterisk 614334 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 13; DNAJC13 RECEPTOR-MEDIATED ENDOCYTOSIS 8, C. ELEGANS, HOMOLOG OF; RME8;; KIAA0678 Number Sign 614335 ARTHROGRYPOSIS, DISTAL, TYPE 1B; DA1B Asterisk 614336 PRESEQUENCE TRANSLOCASE-ASSOCIATED MOTOR 16, S. CEREVISIAE, HOMOLOG OF; PAM16 MITOCHONDRIA-ASSOCIATED GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR SIGNALING MOLECULE; MAGMAS Number Sign 614337 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4 Number Sign 614338 PANCREATIC LIPASE DEFICIENCY; PNLIPD LIPASE, CONGENITAL ABSENCE OF PANCREATIC;; PL DEFICIENCY PANCREATIC COLIPASE DEFICIENCY, INCLUDED;; COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED;; LIPASE AND COLIPASE, DEFICIENCY OF, INCLUDED;; LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC, INCLUDED Caret 614339 MOVED TO 607596 Number Sign 614340 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27 Percent 614341 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 33; MRT33 Percent 614342 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 30; MRT30 Percent 614343 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 19; MRT19 Percent 614344 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 23; MRT23 Percent 614345 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 24; MRT24 Percent 614346 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 25; MRT25 Percent 614347 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 28; MRT28 Asterisk 614348 CHROMOSOME 6 OPEN READING FRAME 105; C6ORF105 ANDROGEN-DEPENDENT TFPI-REGULATING PROTEIN; ADTRP Asterisk 614349 ZINC FINGER PROTEIN 638; ZNF638 NUCLEAR PROTEIN, 220-KD; NP220 Number Sign 614350 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5 Asterisk 614351 NUCLEOPORIN, 93-KD; NUP93 NIC96, S. CEREVISIAE, HOMOLOG OF; NIC96;; KIAA0095 Asterisk 614352 NUCLEOPORIN, 205-KD; NUP205 CHROMOSOME 7 OPEN READING FRAMER 14; C7ORF14;; KIAA0225 Asterisk 614353 HAS2 ANTISENSE RNA 1; HAS2AS1 HYALURONAN SYNTHASE 2, ANTISENSE; HASNT Asterisk 614354 PRO2268 GENE Asterisk 614355 ACYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 1; ACSS1 ACYL-CoA SYNTHETASE 1; ACECS1 Asterisk 614356 ACYL-CoA SYNTHETASE SHORT CHAIN FAMILY, MEMBER 3; ACSS3 Asterisk 614357 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 1; ACSM1 MEDIUM CHAIN ACYL-CoA SYNTHETASE 1; MACS1 Asterisk 614358 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 2A; ACSM2A Asterisk 614359 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 2B; ACSM2B XENOBIOTIC/MEDIUM CHAIN FATTY ACID-CoA LIGASE A; HXMA Asterisk 614360 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 4; ACSM4 Asterisk 614361 ACYL-CoA SYNTHETASE MEDIUM CHAIN FAMILY, MEMBER 5; ACSM5 Asterisk 614362 ACYL-CoA SYNTHETASE, BUBBLEGUM FAMILY, MEMBER 1; ACSBG1 BUBBLEGUM, DROSOPHILA, HOMOLOG OF; BG;; BG1;; LIPIDOSIN;; KIAA0631 Asterisk 614363 ACYL-CoA SYNTHETASE, BUBBLEGUM FAMILY, MEMBER 2; ACSBG2 BUBBLEGUM-RELATED PROTEIN; BGR Asterisk 614364 ACETOACETYL-CoA SYNTHETASE; AACS ACYL-CoA SYNTHETASE FAMILY, MEMBER 1; ACSF1 Asterisk 614365 AMINOADIPATE-SEMIALDEHYDE DEHYDROGENASE; AASDH ACYL-CoA SYNTHETASE FAMILY, MEMBER 4; ACSF4 Asterisk 614366 POLYMERASE III, RNA, SUBUNIT B; POLR3B RPC2;; C128, S. CEREVISIAE, HOMOLOG OF; C128 Asterisk 614367 ADAPTOR-RELATED PROTEIN COMPLEX 5, BETA-1 SUBUNIT; AP5B1 ADAPTOR-RELATED PROTEIN COMPLEX 5, BETA SUBUNIT;; BETA-5;; DKFZp761E198 Asterisk 614368 ADAPTOR-RELATED PROTEIN COMPLEX 5, MU-1 SUBUNIT; AP5M1 MU-2/AP1M2 DOMAIN-CONTAINING DEATH-INDUCING PROTEIN; MUDENG;; MUD;; CHROMOSOME 14 OPEN READING FRAME 108; C14ORF108;; ADAPTOR-RELATED PROTEIN COMPLEX 5, MU SUBUNIT;; MU-5 Number Sign 614369 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH Number Sign 614370 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 PULMONARY ALVEOLAR PROTEINOSIS 5;; PAP DUE TO CSF2RB DEFICIENCY;; CSF2RB DEFICIENCY Number Sign 614371 DENGUE VIRUS, SUSCEPTIBILITY TO DENGUE FEVER, SUSCEPTIBILITY TO, INCLUDED;; DENGUE FEVER, PROTECTION AGAINST, INCLUDED;; DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO, INCLUDED;; DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO, INCLUDED Number Sign 614372 MANNOSE-BINDING LECTIN DEFICIENCY; MBLD LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1; LCAPD1;; MBL DEFICIENCY;; MANNOSE-BINDING PROTEIN DEFICIENCY;; MBP DEFICIENCY;; MBL2 DEFICIENCY Number Sign 614373 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16 Number Sign 614374 BLOOD GROUP, CHIDO/RODGERS SYSTEM CHIDO/RODGERS BLOOD GROUP SYSTEM Percent 614375 AORTIC ANEURYSM, FAMILIAL ABDOMINAL, 4; AAA4 Number Sign 614376 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 ASPHYXIATING THORACIC DYSTROPHY 5; ATD5 Number Sign 614377 NEPHRONOPHTHISIS 13; NPHP13 Number Sign 614378 CRANIOECTODERMAL DYSPLASIA 4; CED4 Number Sign 614379 COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD C4B DEFICIENCY Number Sign 614380 COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD C4A DEFICIENCY Number Sign 614381 LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8 Number Sign 614382 BACTEREMIA, SUSCEPTIBILITY TO, 1; BACTS1 BACTEREMIA, RESISTANCE TO, INCLUDED Number Sign 614383 BACTEREMIA, SUSCEPTIBILITY TO, 2; BACTS2 Asterisk 614384 MICRO RNA 492; MIR492 miRNA492 Number Sign 614385 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7; HNPCC7 Asterisk 614386 PROLINE-RICH TRANSMEMBRANE PROTEIN 2; PRRT2 Asterisk 614387 ZINC FINGER PROTEIN 526; ZNF526 KIAA1951 Number Sign 614388 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1; EMPF1 EMPF Number Sign 614389 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1 RPRGL;; RPL;; ABORTION, SPONTANEOUS, RECURRENT;; FETAL LOSS, RECURRENT, SUSCEPTIBILITY TO;; MISCARRIAGE, RECURRENT;; EMBRYONIC LOSS, RECURRENT;; STILLBIRTH, RECURRENT Number Sign 614390 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2 Number Sign 614391 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3; RPRGL3 Asterisk 614392 TUDOR DOMAIN-CONTAINING PROTEIN 3; TDRD3 Asterisk 614393 O-ACYL-ADP-RIBOSE DEACYLASE 1; OARD1 CHROMOSOME 6 OPEN READING FRAME 130; C6ORF130 Asterisk 614394 INTRAFLAGELLAR TRANSPORT 20, CHLAMYDOMONAS, HOMOLOG OF: IFT20 Number Sign 614395 GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS GRAFT-VERSUS-HOST DISEASE, RESISTANCE TO, INCLUDED Asterisk 614396 G-PATCH DOMAIN-CONTAINING PROTEIN 8; GPATCH8 KIAA0553 Asterisk 614397 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 2A; MFSD2A Asterisk 614398 KIAA1462 GENE; KIAA1462 JUNCTIONAL PROTEIN ASSOCIATED WITH CORONARY ARTERY DISEASE; JCAD Number Sign 614399 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET; EMARDD MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, INCLUDED Number Sign 614400 GLUCOCORTICOID THERAPY, RESPONSE TO; GCTR Number Sign 614401 ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS Number Sign 614402 MICROPHTHALMIA, SYNDROMIC 11; MCOPS11 Asterisk 614403 RHOMBOID 5, DROSOPHILA, HOMOLOG OF, 1; RHBDF1 INACTIVE RHOMBOID PROTEIN 1; IRHOM1;; DIST1 Asterisk 614404 RHOMBOID 5, DROSOPHILA, HOMOLOG OF, 2; RHBDF2 INACTIVE RHOMBOID PROTEIN 2; IRHOM2 Asterisk 614405 DEAH BOX POLYPEPTIDE 33; DHX33 Asterisk 614406 SLP ADAPTOR- AND CSK-INTERACTING MEMBRANE PROTEIN; SCIMP SLP65/SLP76- AND CSK-INTERACTING MEMBRANE PROTEIN;; CHROMOSOME 17 OPEN READING FRAME 87; C17ORF87 Percent 614407 MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME; MCHCCD ZAKI-GLEESON SYNDROME Caret 614408 MOVED TO 160150 Number Sign 614409 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46 Asterisk 614410 ACTIN FILAMENT-ASSOCIATED PROTEIN 1-LIKE 1; AFAP1L1 Number Sign 614411 GLYCEROL QUANTITATIVE TRAIT LOCUS; GLYCQTL GLYCEROL RELEASE DURING EXERCISE, DEFECTIVE BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 17, INCLUDED; BMIQ17, INCLUDED Asterisk 614412 TESTIS- AND OVARY-SPECIFIC PAZ DOMAIN-CONTAINING PROTEIN 1; TOPAZ1 CHROMOSOME 3 OPEN READING FRAME 77; C3ORF77 Asterisk 614413 AMINOACYLASE 3; ACY3 ASPARTOACYLASE 3;; HEPATITIS C VIRUS CORE-BINDING PROTEIN 1; HCBP1;; HCV CORE-BINDING PROTEIN 1 Percent 614414 DEAFNESS, AUTOSOMAL RECESSIVE 96; DFNB96 Number Sign 614415 CHILBLAIN LUPUS 2; CHBL2 Number Sign 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA Number Sign 614417 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5 Number Sign 614418 FEBRILE SEIZURES, FAMILIAL, 11; FEB11 CONVULSIONS, FAMILIAL FEBRILE, 11 Number Sign 614419 ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 ASTQTL1 Number Sign 614420 SYSTEMIC LUPUS ERYTHEMATOSUS 16; SLEB16 Caret 614421 MOVED TO 277590 Percent 614422 CATARACT 37; CTRCT37 CATARACT, CONGENITAL, CERULEAN TYPE, 5; CCA5 Asterisk 614423 TRANSMEMBRANE PROTEIN 237; TMEM237 ALS2 CHROMOSOME REGION GENE 4; ALS2CR4 Number Sign 614424 JOUBERT SYNDROME 14; JBTS14 Asterisk 614425 TELO2-INTERACTING PROTEIN 1; TTI1 KIAA0406 Asterisk 614426 TELO2-INTERACTING PROTEIN 2; TTI2 CHROMOSOME 8 OPEN READING FRAME 41; C8ORF41 Asterisk 614427 TEASHIRT ZINC FINGER HOMEOBOX 1; TSHZ1 TSH1;; NY-CO-33 Asterisk 614428 TRANSCRIPTION FACTOR AP2-EPSILON; TFAP2E AP2-EPSILON Number Sign 614429 VENTRICULAR SEPTAL DEFECT 1; VSD1 Number Sign 614430 ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4 Number Sign 614431 VENTRICULAR SEPTAL DEFECT 2; VSD2 Number Sign 614432 VENTRICULAR SEPTAL DEFECT 3; VSD3 Number Sign 614433 ATRIAL SEPTAL DEFECT 8; ASD8 Number Sign 614434 CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2 Number Sign 614435 HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2 Number Sign 614436 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G, FORMERLY; CMT2G, FORMERLY Number Sign 614437 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B Number Sign 614438 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB; ARCL3B DE BARSY SYNDROME B Asterisk 614439 ADP-RIBOSYLATION FACTOR-LIKE 14; ARL14 ADP-RIBOSYLATION FACTOR 7; ARF7 Asterisk 614440 PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN 3; PSD3 HCA67;; EFA6R Number Sign 614441 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE;; PDP, AUTOSOMAL RECESSIVE Asterisk 614442 PLECKSTRIN AND SEC7 DOMAINS-CONTAINING PROTEIN 4; PSD4 EXCHANGE FACTOR FOR ARF6, B; EFA6B;; TELOMERIC OF INTERLEUKIN 1 CLUSTER; TIC Asterisk 614443 EBNA1-BINDING PROTEIN 2; EBNA1BP2 EBP2 Asterisk 614444 RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF 1; RALGPS1 RAL GEF WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF;; RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; RALGEF2;; KIAA0351 Asterisk 614445 DEVELOPMENTAL PLURIPOTENCY-ASSOCIATED GENE 2; DPPA2 PLURIPOTENT EMBRYONIC STEM CELL-RELATED GENE 1; PESCRG1;; EMBRYONIC STEM CELL-ASSOCIATED TRANSCRIPT 15-2;; ECAT15-2 Asterisk 614446 ATPase, CLASS II, TYPE 9B; ATP9B Asterisk 614447 G0/G1 SWITCH GENE 2; G0S2 Asterisk 614448 GEMININ COILED-COIL DOMAIN-CONTAINING PROTEIN; GMNC GEMC1 Asterisk 614449 PROTOCADHERIN 20; PCDH20 PROTOCADHERIN 13; PCDH13 Number Sign 614450 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6 Asterisk 614451 ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 7; ELOVL7 ELOVL FATTY ACID ELONGASE 7 Asterisk 614452 ATPASE FAMILY, AAA DOMAIN-CONTAINING, MEMBER 1; ATAD1 THORASE Asterisk 614453 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 7; LRRC7 DENSIN;; DENSIN 180;; KIAA1365 Asterisk 614454 UBIQUITIN PROTEIN LIGASE E3C; UBE3C HECTH2;; KIAA0010;; KIAA10 Number Sign 614455 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS Number Sign 614456 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO Number Sign 614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR Number Sign 614458 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5 ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Asterisk 614459 TRANSMEMBRANE PROTEIN 138; TMEM138 Asterisk 614460 UBIQUITIN-SPECIFIC PROTEASE 47; USP47 Asterisk 614461 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 2; UQCC2 CHROMOSOME 6 OPEN READING FRAME 125; C6ORF125;; M19 Number Sign 614462 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD Asterisk 614463 NMYC DOWNSTREAM-REGULATED GENE 4; NDRG4 SMOOTH MUSCLE-ASSOCIATED PROTEIN 8; SMAP8;; KIAA1180 Number Sign 614464 JOUBERT SYNDROME 15; JBTS15 JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED;; JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED Number Sign 614465 JOUBERT SYNDROME 16; JBTS16 Number Sign 614466 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6; CHDS6 Caret 614467 MOVED TO 212350 Number Sign 614468 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; PLAID;; FAMILIAL ATYPICAL COLD URTICARIA; FACU Asterisk 614469 SERRATE RNA EFFECTOR MOLECULE, ARABIDOPSIS, HOMOLOG OF; SRRT ARSENITE RESISTANCE PROTEIN 2; ARS2 Number Sign 614470 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER; RALD AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV; ALPS4 Asterisk 614471 UBIQUITIN-SPECIFIC PROTEASE 19; USP19 KIAA0891 Asterisk 614472 RING FINGER PROTEIN 123; RNF123 KIP1 UBIQUITINATION-PROMOTING COMPLEX 1; KPC1 Number Sign 614473 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2; GACI2 Number Sign 614474 ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5 Number Sign 614475 ATRIAL SEPTAL DEFECT 9; ASD9 Asterisk 614476 THROMBOSPONDIN TYPE-1 DOMAIN-CONTAINING PROTEIN 4; THSD4 ADAMTS-LIKE PROTEIN 6; ADAMTSL6 Asterisk 614477 CHROMOSOME 8 OPEN READING FRAME 37; C8ORF37 Asterisk 614478 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX14; COX14 COX14, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 12 OPEN READING FRAME 62; C12ORF62 Asterisk 614479 MALONYL CoA:ACP ACYLTRANSFERASE, MITOCHONDRIAL; MCAT MITOCHONDRIAL MALONYLTRANSFERASE;; MT, MITOCHONDRIAL Number Sign 614480 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI Asterisk 614481 ATXN7 ANTISENSE RNA 1; ATXN7AS1 SCA7 ANTISENSE NONCODING TRANSCRIPT 1; SCAANT1 Number Sign 614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND Number Sign 614483 BRAIN SMALL VESSEL DISEASE 2; BSVD2 PORENCEPHALY 2, FORMERLY; POREN2, FORMERLY Asterisk 614484 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 13; ANAPC13 APC13;; SWM1, S. CEREVISIAE, HOMOLOG OF; SWM1 Number Sign 614485 TRIGONOCEPHALY 2; TRIGNO2 CRANIOSYNOSTOSIS, METOPIC Number Sign 614486 THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12 Number Sign 614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5 Asterisk 614488 MICRO RNA 1258; MIR1258 miRNA1258 Asterisk 614489 MICRO RNA 616; MIR616 miRNA616 Number Sign 614490 BLOOD GROUP, JUNIOR SYSTEM; JR Number Sign 614491 PSEUDOHYPOALDOSTERONISM, TYPE IIB; PHA2B Number Sign 614492 PSEUDOHYPOALDOSTERONISM, TYPE IIC; PHA2C Number Sign 614493 WISKOTT-ALDRICH SYNDROME 2; WAS2 WIPF1 DEFICIENCY Percent 614494 RETINITIS PIGMENTOSA 63; RP63 Number Sign 614495 PSEUDOHYPOALDOSTERONISM, TYPE IID; PHA2D FAMILIAL HYPERKALEMIC HYPERTENSION; FHHT Number Sign 614496 PSEUDOHYPOALDOSTERONISM, TYPE IIE; PHA2E Number Sign 614497 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7; MCOPCB7 Number Sign 614498 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL Number Sign 614499 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY; MRT34 Number Sign 614500 CONE-ROD DYSTROPHY 16; CORD16 RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT RETINITIS PIGMENTOSA 64, INCLUDED; RP64, INCLUDED Number Sign 614501 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED Asterisk 614502 CHROMOSOME 9 OPEN READING FRAME 116; C9ORF116 p53-INDUCED EXPRESSION IN RB-NULL CELLS 1; PIERCE1 Asterisk 614503 KELCH DOMAIN-CONTAINING PROTEIN 8A; KLHDC8A SUBSTITUTE FOR DELTA-EGFR EXPRESSION 1;; S-DELTA-E1 Number Sign 614504 USHER SYNDROME, TYPE IIIB; USH3B Asterisk 614505 FK506-BINDING PROTEIN 14; FKBP14 Asterisk 614506 BRCA1-ASSOCIATED ATM ACTIVATOR 1; BRAT1 BAAT1;; CHROMOSOME 7 OPEN READING FRAME 27; C7ORF27 Number Sign 614507 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir; CDG1R Number Sign 614508 MIRROR MOVEMENTS 2; MRMV2 Asterisk 614509 MICRO RNA 99A; MIR99A miRNA99A Asterisk 614510 MICRO RNA 99B; MIR99B miRNA99B Asterisk 614511 MYOD FAMILY INHIBITOR DOMAIN-CONTAINING PROTEIN; MDFIC IMFA DOMAIN-CONTAINING PROTEIN; HIC Asterisk 614512 TORSIN A-INTERACTING PROTEIN 1; TOR1AIP1 LAMIN-ASSOCIATED PROTEIN 1; LAP1;; LAP1B Asterisk 614513 TORSIN A-INTERACTING PROTEIN 2; TOR1AIP2 LUMINAL DOMAIN LIKE LAP1; LULL1 Number Sign 614514 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6 Asterisk 614515 G PROTEIN-COUPLED RECEPTOR 179; GPR179 GPR158-LIKE; GPR158L;; GPR158L1 Asterisk 614516 DOLICHYL PYROPHOSPHATE PHOSPHATASE 1; DOLPP1 LSFR2, PUFFERFISH, HOMOLOG OF; LSFR2 Asterisk 614517 ARYL HYDROCARBON RECEPTOR NUCLEAR TRANSLOCATOR-LIKE PROTEIN 2; ARNTL2 BRAIN AND MUSCLE ARNT-LIKE PROTEIN 2; BMAL2;; CYCLE-LIKE FACTOR; CLIF Asterisk 614518 GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 1; GATAD1 OCULAR DEVELOPMENT-ASSOCIATED GENE; ODAG Number Sign 614519 HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO NULL 614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY Number Sign 614521 THROMBOCYTHEMIA 3; THCYT3 THROMBOCYTOSIS 3 Asterisk 614522 KELCH-LIKE 12; KLHL12 DKIR Asterisk 614523 MICRO RNA 489; MIR489 miRNA489 Number Sign 614524 FIBROCHONDROGENESIS 2; FBCG2 Asterisk 614525 NFATC2-INTERACTING PROTEIN; NFATC2IP NFAT-INTERACTING PROTEIN, 45-KD; NIP45 Number Sign 614526 CHROMOSOME 17q12 DUPLICATION SYNDROME Number Sign 614527 CHROMOSOME 17q12 DELETION SYNDROME Asterisk 614528 HIF1A ANTISENSE RNA 1; HIF1AAS1 ANTISENSE HIF1-ALPHA, 5-PRIME;; AHIF1A, 5-PRIME Asterisk 614529 HIF1A ANTISENSE RNA 2; HIF1AAS2 ANTISENSE HIF1-ALPHA; AHIF;; ANTISENSE HIF1-ALPHA, 3-PRIME;; AHIFIA, 3-PRIME Asterisk 614530 NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 12; NDUFA12 B17.2 Asterisk 614531 RASGEF DOMAIN FAMILY, MEMBER 1A; RASGEF1A Asterisk 614532 RASGEF DOMAIN FAMILY, MEMBER 1B; RASGEF1B GPI-GAMMA-4; GPIG4 Asterisk 614533 CELL DIVISION CYCLE 26, S. CEREVISIAE, HOMOLOG OF; CDC26 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 12; ANAPC12; APC12 Asterisk 614534 ANAPHASE-PROMOTING COMPLEX SUBUNIT 11; ANAPC11 APC11 Asterisk 614535 ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 7; ZSWIM7 SWIM-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 7;; SWIM DOMAIN-CONTAINING SRS2-INTERACTING PROTEIN 1; SWS1 Asterisk 614536 SWIM-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 7-ASSOCIATED PROTEIN 1; SWSAP1 SWS1-ASSOCIATED PROTEIN 1;; ZSWIM7-ASSOCIATED PROTEIN 1; ZSWIM7AP1;; CHROMOSOME 19 OPEN READING FRAME 39; C19ORF39 Asterisk 614537 LEUCINE-RICH MELANOCYTE DIFFERENTIATION-ASSOCIATED PROTEIN; LRMDA CHROMOSOME 10 OPEN READING FRAME 11; C10ORF11 Asterisk 614538 MICRO RNA 570; MIR570 miRNA570 Asterisk 614539 HELICASE, DNA, B; HELB DNA HELICASE B;; HDHB Caret 614540 MOVED TO 213600 Number Sign 614541 CHROMOSOME 16q22 DELETION SYNDROME Asterisk 614542 FAMILY WITH SEQUENCE SIMILARITY 69, MEMBER A; FAM69A Asterisk 614543 FAMILY WITH SEQUENCE SIMILARITY 69, MEMBER B; FAM69B Asterisk 614544 FAMILY WITH SEQUENCE SIMILARITY 69, MEMBER C; FAM69C Asterisk 614545 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 10; EMC10 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 10;; CHROMOSOME 19 OPEN READING FRAME 63; C19ORF63 HEMATOPOIETIC SIGNAL PEPTIDE-CONTAINING SECRETED PROTEIN 1, INCLUDED; HSS1, INCLUDED;; HEMATOPOIETIC SIGNAL PEPTIDE- AND MEMBRANE DOMAIN-CONTAINING PROTEIN 1, INCLUDED; HSM1, INCLUDED Number Sign 614546 EFAVIRENZ, POOR METABOLISM OF EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY, SUSCEPTIBILITY TO, INCLUDED Asterisk 614547 FAMILY WITH SEQUENCE SIMILARITY 103, MEMBER A1; FAM103A1 RNMT-ACTIVATING MINIPROTEIN; RAM Asterisk 614548 SERINE INCORPORATOR 1; SERINC1 TMS2;; KIAA1253 Asterisk 614549 SERINE INCORPORATOR 2; SERINC2 TUMOR DIFFERENTIALLY EXPRESSED GENE 2; TDE2 Asterisk 614550 SERINE INCORPORATOR 4; SERINC4 Asterisk 614551 SERINE INCORPORATOR 5; SERINC5 CHROMOSOME 5 OPEN READING FRAME 12; C5ORF12;; TPO1 Asterisk 614552 XYLOSIDE XYLOSYLTRANSFERASE 1; XXYLT1 CHROMOSOME 3 OPEN READING FRAME 21; C3ORF21 Asterisk 614553 N6 ADENINE-SPECIFIC DNA METHYLTRANSFERASE 1, PUTATIVE; N6AMT1 Asterisk 614554 FAMILY WITH SEQUENCE SIMILARITY 32, MEMBER A; FAM32A OVARIAN TUMOR-ASSOCIATED GENE 12; OTAG12 Asterisk 614555 FERM DOMAIN-CONTAINING PROTEIN 6; FRMD6 WILLIN;; CHROMOSOME 14 OPEN READING FRAME 31; C14ORF31 Asterisk 614556 AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1B; ARID1B ARID-CONTAINING PROTEIN 1B;; BAF-ASSOCIATED FACTOR, 250-KD, B; BAF250B;; ELD/OSA1;; KIAA1235 Number Sign 614557 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2 EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH Number Sign 614558 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13 Number Sign 614559 INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD Asterisk 614560 MAU2 CHROMATID COHESION FACTOR, C. ELEGANS, HOMOLOG OF; MAU2 SISTER CHROMATID COHESION 4, S. CEREVISIAE, HOMOLOG OF; SCC4;; KIAA0892 Number Sign 614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC LABRUNE SYNDROME Caret 614562 MOVED TO 135900 Number Sign 614563 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION DEFECTS Number Sign 614564 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL; FCTCS TELANGIECTASIA, CUTANEOUS, AND CANCER SYNDROME, FAMILIAL Number Sign 614565 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E; CSNB1E CSNB, COMPLETE, AUTOSOMAL RECESSIVE Asterisk 614566 DYNEIN, AXONEMAL, ASSEMBLY FACTOR 3; DNAAF3 PF22, CHLAMYDOMONAS, HOMOLOG OF; PF22;; DYNEIN ASSEMBLY BLOCKED 1, CHLAMYDOMONAS, HOMOLOG OF; DAB1 Asterisk 614567 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 3; DIAPH3 DIA2;; DIAPHANOUS-RELATED FORMIN 3; DRF3 Asterisk 614568 UNC13, C. ELEGANS, HOMOLOG OF, C; UNC13C MUNC13-3 Percent 614569 MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE MAFFUCCI SYNDROME Asterisk 614570 KINESIN FAMILY MEMBER 18B; KIF18B Asterisk 614571 CILIOGENESIS AND PLANAR POLARITY EFFECTOR 1; CPLANE1 CHROMOSOME 5 OPEN READING FRAME 42; C5ORF42 Asterisk 614572 ZINC FINGER PROTEIN 42; ZFP42 REDUCED EXPRESSION GENE 1; REX1 Asterisk 614573 G PROTEIN-COUPLED RECEPTOR 158; GPR158 KIAA1136 Asterisk 614574 ROGDI, DROSOPHILA, HOMOLOG OF; ROGDI Number Sign 614575 CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS Number Sign 614576 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L CDG IIl; CDGIIl Asterisk 614577 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 3; PAQR3 RAF KINASE TRAPPING TO GOLGI; RKTG Asterisk 614578 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 4; PAQR4 Asterisk 614579 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 6; PAQR6 Asterisk 614580 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 9; PAQR9 Asterisk 614581 MONOCYTE-TO-MACROPHAGE DIFFERENTIATION-ASSOCIATED PROTEIN 2; MMD2 PROGESTIN AND ADIPOQ RECEPTOR FAMILY, MEMBER 10; PAQR10 Number Sign 614582 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 Number Sign 614583 BARAITSER-WINTER SYNDROME 2; BRWS2 Asterisk 614584 PROLYL 4-HYDROXYLASE, TRANSMEMBRANE; P4HTM PROLINE HYDROXYLASE 4; PH4 Asterisk 614585 FERREDOXIN 2; FDX2 FERREDOXIN 1-LIKE PROTEIN; FDX1L;; FDX1-LIKE PROTEIN Asterisk 614586 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 5; ZDHHC5 DHHC5;; ZINC FINGER PROTEIN 375; ZNF375;; KIAA1748 Asterisk 614587 ChaC, E. COLI, HOMOLOG OF, 1; CHAC1 CATION TRANSPORT REGULATOR-LIKE PROTEIN 1 Percent 614588 DYSTONIA 21; DYT21 Asterisk 614589 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 37; TTC37 KIAA0372 Percent 614590 PODOCONIOSIS, SUSCEPTIBILITY TO; PDCOS NONFILARIAL ELEPHANTIASIS OF LOWER LEGS, SUSCEPTIBILITY TO;; ENDEMIC NONFILARIAL ELEPHANTIASIS, SUSCEPTIBILITY TO;; LYMPHOSTATIC VERRUCOSIS, SUSCEPTIBILITY TO Asterisk 614591 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 16; CEACAM16 CEA-LIKE 2; CEAL2 Number Sign 614592 BENT BONE DYSPLASIA SYNDROME; BBDS Asterisk 614593 MEIOSIS REGULATOR AND mRNA STABILITY FACTOR 1; MARF1 KIAA0430;; LIMKAIN B1; LKAP;; MEIOSIS ARREST FEMALE 1 Number Sign 614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES OLMSTED SYNDROME; OLMS Number Sign 614595 PREECLAMPSIA/ECLAMPSIA 5; PEE5 Asterisk 614596 MICRO RNA 302A; MIR302A miRNA302A Asterisk 614597 MICRO RNA 302B; MIR302B miRNA302B Asterisk 614598 MICRO RNA 302C; MIR302C miRNA302C Asterisk 614599 MICRO RNA 302D; MIR302D miRNA302D Asterisk 614600 MICRO RNA 367; MIR367 miRNA367 Asterisk 614601 ZINC FINGER PROTEIN 326; ZNF326 ZINC FINGER PROTEIN INTERACTING WITH NUCLEAR MESSENGER RIBONUCLEOPROTEINS AND DBC1; ZIRD Number Sign 614602 TRICHOHEPATOENTERIC SYNDROME 2; THES2 Asterisk 614603 DDHD DOMAIN-CONTAINING PROTEIN 1; DDHD1 PHOSPHATIDIC ACID-PREFERRING PHOSPHOLIPASE A1; PAPLA1;; KIAA1705 Asterisk 614604 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 7; ZDHHC7 DHHC7 Asterisk 614605 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 21; ZDHHC21 DHHC21 Asterisk 614606 FOCADHESIN; FOCAD KIAA1797 Number Sign 614607 COFFIN-SIRIS SYNDROME 2; CSS2 MENTAL RETARDATION, AUTOSOMAL DOMINANT 14; MRD14 CHROMOSOME 1p36.11 DUPLICATION SYNDROME, INCLUDED Number Sign 614608 COFFIN-SIRIS SYNDROME 3; CSS3 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15 Number Sign 614609 COFFIN-SIRIS SYNDROME 4; CSS4 MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16 Asterisk 614610 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 2; KANK2 SRC-INTERACTING PROTEIN; SIP;; ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 25; ANKRD25;; KIAA1518 Asterisk 614611 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 3; KANK3 Asterisk 614612 KN MOTIF- AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 4; KANK4 Number Sign 614613 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2 Number Sign 614614 DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B Number Sign 614615 JOUBERT SYNDROME 17; JBTS17 Number Sign 614616 DIARRHEA 6; DIAR6 Number Sign 614617 DEAFNESS, AUTOSOMAL RECESSIVE 86; DFNB86 Number Sign 614618 HYPEREKPLEXIA 3; HKPX3 Number Sign 614619 HYPEREKPLEXIA 2; HKPX2 Asterisk 614620 INTRAFLAGELLAR TRANSPORT 140, CHLAMYDOMONAS, HOMOLOG OF; IFT140 KIAA0590 Number Sign 614621 UV-SENSITIVE SYNDROME 2; UVSS2 Percent 614622 KERATOCONUS 5; KTCN5 Percent 614623 KERATOCONUS 6; KTCN6 Asterisk 614624 MITOCHONDRIAL ASSEMBLY OF RIBOSOMAL LARGE SUBUNIT 1; MALSU1 CHROMOSOME 7 OPEN READING FRAME 30; C7ORF30 Asterisk 614625 DIFFERENTIATION-ANTAGONIZING NONCODING RNA; DANCR ANTI-DIFFERENTIATION NONCODING RNA; ANCR;; KIAA0114 Asterisk 614626 SMALL NUCLEOLAR RNA, H/ACA BOX, 26; SNORA26 snoRNA, HBI-6;; MBI-6, MOUSE, HOMOLOG OF Asterisk 614627 MICRO RNA 4449; MIR4449 miRNA4449 Percent 614628 KERATOCONUS 8; KTCN8 Percent 614629 KERATOCONUS 7; KTCN7 Asterisk 614630 ANDROGLOBIN; ADGB Asterisk 614631 ISOPRENOID SYNTHASE DOMAIN-CONTAINING PROTEIN; ISPD Asterisk 614632 UV-STIMULATED SCAFFOLD PROTEIN A; UVSSA KIAA1530 Asterisk 614633 VACUOLAR PROTEIN SORTING 54, S. CEREVISIAE, HOMOLOG OF; VPS54 VPS54-LIKE; VPS54L;; WOBBLER, MOUSE, HOMOLOG OF; WR;; SLP8 Asterisk 614634 CENTROSOMAL PROTEIN 126; CEP126 KIAA1377 Asterisk 614635 LONG INTERGENIC NONCODING RNA 538; LINC00538 YIYA Asterisk 614636 MYOSIN IH; MYO1H Asterisk 614637 DESUMOYLATING ISOPEPTIDASE 1; DESI1 PPPDE PEPTIDASE DOMAIN-CONTAINING PROTEIN 2; PPPDE2 Asterisk 614638 DESUMOYLATING ISOPEPTIDASE 2; DESI2 PPPDE PEPTIDASE DOMAIN-CONTAINING PROTEIN 1; PPPDE1 Asterisk 614639 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 46; ZBTB46 BTB-ZINC FINGER PROTEIN EXPRESSED IN EFFECTOR LYMPHOCYTES; BZEL Number Sign 614640 UV-SENSITIVE SYNDROME 3; UVSS3 Asterisk 614641 LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 5; LAMP5 BRAIN- AND DENDRITIC CELL-ASSOCIATED LAMP; BADLAMP Asterisk 614642 START DOMAIN-CONTAINING PROTEIN 9; STARD9 KIAA1300 Number Sign 614643 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED Percent 614644 MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 4; MPVCQTL4 Percent 614645 MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 5; MPVCQTL5 Percent 614646 MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 6; MPVCQTL6 Asterisk 614647 COQ6, S. CEREVISIAE, HOMOLOG OF; COQ6 COENZYME Q10 MONOOXYGENASE 6;; CGI10 Asterisk 614648 RALY-LIKE PROTEIN; RALYL Asterisk 614649 RING FINGER PROTEIN 170; RNF170 Number Sign 614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 Number Sign 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 Number Sign 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3 Number Sign 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6 HSAN VI Number Sign 614654 COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5 Percent 614655 STUTTERING, FAMILIAL PERSISTENT, 3; STUT3 Asterisk 614656 PALADIN1; PALD1 PALADIN, MOUSE, HOMOLOG OF; PALD;; KIAA1274 Asterisk 614657 ANGIOMOTIN-LIKE 1; AMOTL1 JUNCTION-ENRICHED AND -ASSOCIATED PROTEIN; JEAP Asterisk 614658 ANGIOMOTIN-LIKE 2; AMOTL2 KIAA0989 Asterisk 614659 FAMILY WITH SEQUENCE SIMILARITY 123, MEMBER A; FAM123A APC MEMBRANE RECRUITMENT PROTEIN 2; AMER2 Asterisk 614660 PROTEIN ASSOCIATED WITH TOPOISOMERASE II, S. CEREVISIAE, HOMOLOG OF, 1; PATL1 PAT1-LIKE 1;; PAT1B Asterisk 614661 PROTEIN ASSOCIATED WITH TOPOISOMERASE II, S. CEREVISIAE, HOMOLOG OF, 2; PATL2 PAT1-LIKE 2;; PAT1A Number Sign 614662 CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2 Asterisk 614663 HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN ASSOCIATED WITH LETHAL YELLOW, MOUSE, HOMOLOG OF; RALY RALY, MOUSE, HOMOLOG OF;; RNA-BINDING PROTEIN RALY, AUTOANTIGENIC;; p542 Asterisk 614664 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 4; TREML4 TREM-LIKE TRANSCRIPT 4; TLT4 Number Sign 614665 MECONIUM ILEUS Asterisk 614666 COILED-COIL DOMAIN-CONTAINING PROTEIN 78; CCDC78 CHROMOSOME 16 OPEN READING FRAME 25; C16ORF25 Asterisk 614667 MITOCHONDRIAL TRANSLATION OPTIMIZATION 1, S. CEREVISIAE, HOMOLOG OF; MTO1 Percent 614668 STUTTERING, FAMILIAL PERSISTENT, 4; STUT4 Number Sign 614669 AURICULOCONDYLAR SYNDROME 2; ARCND2 Percent 614670 PERIPARTUM CARDIOMYOPATHY, SUSCEPTIBILITY TO PPCM, SUSCEPTIBILITY TO Number Sign 614671 CHROMOSOME 16p11.2 DUPLICATION SYNDROME AUTISM, SUSCEPTIBILITY TO, 14B, INCLUDED; AUTS14B, INCLUDED Number Sign 614672 CARDIOMYOPATHY, DILATED, 2B; CMD2B Number Sign 614673 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8 Number Sign 614674 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT Number Sign 614675 BONE MARROW FAILURE SYNDROME 1; BMFS1 Percent 614676 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21; CMH21 Asterisk 614677 COILED-COIL DOMAIN-CONTAINING PROTEIN 103; CCDC103 SCHMALHANS, ZEBRAFISH, HOMOLOG OF; SMH;; PR46B, CHLAMYDOMONAS, HOMOLOG OF; PR46B Number Sign 614678 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B Number Sign 614679 CILIARY DYSKINESIA, PRIMARY, 17; CILD17 CILIARY DYSKINESIA, PRIMARY, 17, WITH OR WITHOUT SITUS INVERSUS Number Sign 614680 INFLUENZA, SEVERE, SUSCEPTIBILITY TO Asterisk 614681 AMINOGLYCOSIDE PHOSPHOTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; AGPHD1 Asterisk 614682 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2-LIKE 1; AGXT2L1 Asterisk 614683 5-PHOSPHOHYDROXY-L-LYSINE PHOSPHO-LYASE; PHYKPL ALANINE-GLYOXYLATE AMINOTRANSFERASE 2-LIKE 2; AGXT2L2 Percent 614684 HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES Asterisk 614685 ZINC FINGER PROTEIN 597; ZNF597 Asterisk 614686 FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER B; FAM50B XAP5-LIKE PROTEIN; X5L FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER B, ANTISENSE TRANSCRIPT, INCLUDED; FAM50BAS, INCLUDED NULL 614687 ALAR CLEFT, ISOLATED NULL 614688 PONTINE TEGMENTAL CAP DYSPLASIA; PTCD Number Sign 614689 SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS SOLUBLE IL6R, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS Asterisk 614690 CHROMOSOME 4 OPEN READING FRAME 48; C4ORF48 Number Sign 614691 CATARACT 38; CTRCT38 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5; CATC5 Percent 614692 MEMBRANOUS NEPHROPATHY, SUSCEPTIBILITY TO; MBNP Asterisk 614693 ATM INTERACTOR; ATMIN ATM SUBSTRATE CHK2-INTERACTING ZINC FINGER PROTEIN; ASCIZ;; KIAA0431 Asterisk 614694 REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING PROTEIN 1B; RPRD1B CELL CYCLE-RELATED AND EXPRESSION-ELEVATED PROTEIN IN TUMOR; CREPT Asterisk 614695 REGULATION OF NUCLEAR PRE-mRNA DOMAIN-CONTAINING 2; RPRD2 Number Sign 614696 AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED Asterisk 614697 KATANIN, p60 SUBUNIT, A-LIKE PROTEIN 2; KATNAL2 KATNA-LIKE 2 Asterisk 614698 CYTOCHROME c OXIDASE ASSEMBLY FACTOR COX20; COX20 COX20, S. CEREVISIAE, HOMOLOG OF;; COX2 CHAPERONE COX20;; FAMILY WITH SEQUENCE SIMILARITY 36, MEMBER A; FAM36A Number Sign 614699 IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 Number Sign 614700 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 Number Sign 614701 CORNELIA DE LANGE SYNDROME 4; CDLS4 Number Sign 614702 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS Asterisk 614703 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2B; SRGAP2B Asterisk 614704 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C; SRGAP2C Asterisk 614705 SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2D; SRGAP2D Number Sign 614706 CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11 Number Sign 614707 BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2 Asterisk 614708 SIGNAL PEPTIDE-, CUB DOMAIN-, AND EGF-LIKE DOMAINS-CONTAINING PROTEIN 3; SCUBE3 Asterisk 614709 LYR MOTIF-CONTAINING PROTEIN 1; LYRM1 Asterisk 614710 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER A; FAM72A LATENT MEMBRANE PROTEIN 1-INDUCED PROTEIN; LMPIP;; LMP1-INDUCED PROTEIN;; UGENE Asterisk 614711 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER B; FAM72B Asterisk 614712 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER D; FAM72D Asterisk 614713 RAS ASSOCIATION DOMAIN FAMILY, MEMBER 10; RASSF10 Number Sign 614714 POROKERATOSIS 7, MULTIPLE TYPES; POROK7 Asterisk 614715 TRANSMEMBRANE AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 2; TMIGD2 IMMUNOGLOBULIN AND PROLINE-RICH RECEPTOR 1; IGPR1;; CD28 HOMOLOG; CD28H Asterisk 614716 CAPPING PROTEIN REGULATOR AND MYOSIN 1 LINKER 3; CARMIL3 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 16B; LRRC16B Asterisk 614717 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 15; ANAPC15 APC15 Asterisk 614718 KINETOCHORE-LOCALIZED ASTRIN/SPAG5-BINDING PROTEIN; KNSTRN SMALL KINETOCHORE-ASSOCIATED PROTEIN; SKAP;; CHROMOSOME 15 OPEN READING FRAME 23; C15ORF23 Asterisk 614719 POTASSIUM CHANNEL MODULATORY FACTOR 1; KCMF1 DIFFERENTIALLY EXPRESSED IN BRANCHING TUBULOGENESIS 91; DEBT91;; BASIC FIBROBLAST GROWTH FACTOR-INDUCED GENE IN GASTRIC CANCER; FIGC Asterisk 614720 CYCLIN-DEPENDENT KINASE 19; CDK19 KIAA1028 Asterisk 614721 TSPY-LIKE 5; TSPYL5 KIAA1750 Asterisk 614722 MICRO RNA 3120; MIR3120 miRNA3120;; MIR3120-5p MICRO RNA 3120-3p, INCLUDED; MIR3120-3p, INCLUDED Number Sign 614723 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD APRT DEFICIENCY;; UROLITHIASIS, 2,8-DIHYDROXYADENINE;; UROLITHIASIS, DHA;; NEPHROLITHIASIS, DHA Asterisk 614724 CENTROSOMAL PROTEIN, 63-KD; CEP63 Asterisk 614725 SERINE ACTIVE SITE-CONTAINING PROTEIN 1; SERAC1 Asterisk 614726 TRANSMEMBRANE PROTEIN 165; TMEM165 FT27 Number Sign 614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K CDG IIk; CDGIIk Number Sign 614728 SECKEL SYNDROME 6; SCKL6 Asterisk 614729 COP9 SIGNALOSOME, SUBUNIT 6; COPS6 CSN6;; MOV34 FAMILY, 34-KD MEMBER Asterisk 614730 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O PROTEIN; PIGO Number Sign 614731 PROSTATE CANCER, HEREDITARY, 2; HPC2 Number Sign 614732 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES; IMAGE IMAGE SYNDROME Asterisk 614733 MICRO RNA 193A; MIR193A miRNA193A Asterisk 614734 MICRO RNA 193B; MIR193B miRNA193B Asterisk 614735 MICRO RNA 365A; MIR365A MIR365-1;; MIR365;; miRNA365A Number Sign 614736 GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4 Asterisk 614737 BRAIN PROTEIN 44; BRP44 MITOCHONDRIAL PYRUVATE CARRIER 2; MPC2;; PYRUVATE CARRIER, MITOCHONDRIAL, 2 Asterisk 614738 BRAIN PROTEIN 44-LIKE; BRP44L MITOCHONDRIAL PYRUVATE CARRIER 1; MPC1;; PYRUVATE CARRIER, MITOCHONDRIAL, 1 Number Sign 614739 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDHEL;; 3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MGCA6 Number Sign 614740 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7 Number Sign 614741 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD Number Sign 614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 Number Sign 614743 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2; PFBMFT2 Number Sign 614744 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3 Number Sign 614745 BLOOD GROUP, JOHN MILTON HAGEN SYSTEM; JMH JOHN MILTON HAGEN BLOOD GROUP SYSTEM;; JMH BLOOD GROUP SYSTEM Percent 614746 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 5; UAQTL5 Percent 614747 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 6; UAQTL6 Number Sign 614748 INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL; ILNEB Number Sign 614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6; GPIBD6 Number Sign 614750 MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2; CMSTA2 Number Sign 614751 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B HMN VB;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; DHMN5B;; DHMN VB;; SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VB; DSMAVB Number Sign 614752 INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS IL6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS Number Sign 614753 SOTOS SYNDROME 2; SOTOS2 MALAN SYNDROME Asterisk 614754 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 3; DMRT3 DMRTA3 Asterisk 614755 MICRO RNA 520H; MIR520H miRNA520H Number Sign 614756 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR Asterisk 614757 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 5; IFITM5 BONE-RESTRICTED IFITM-LIKE PROTEIN 5; BRIL;; FRAGILIS 4, MOUSE, HOMOLOG OF Asterisk 614758 DYNACTIN 4; DCTN4 DYN4;; DYNACTIN, 62-KD SUBUNIT;; p62 Asterisk 614759 COILED-COIL DOMAIN-CONTAINING PROTEIN 11; CCDC11 Asterisk 614760 PQ LOOP REPEAT-CONTAINING PROTEIN 2; PQLC2 Asterisk 614761 GLYCINE N-ACYLTRANSFERASE-LIKE 1; GLYATL1 Asterisk 614762 GLYCINE N-ACYLTRANSFERASE-LIKE 2; GLYATL2 Asterisk 614763 GLYCINE N-ACYLTRANSFERASE-LIKE 3; GLYATL3 Asterisk 614764 KATANIN, p60 SUBUNIT, A-LIKE 1; KATNAL1 Asterisk 614765 STRIATIN, CALMODULIN-BINDING PROTEIN; STRN Asterisk 614766 STRIATIN, CALMODULIN-BINDING PROTEIN 3; STRN3 S/G2 NUCLEAR ANTIGEN; SG2NA Asterisk 614767 STRIATIN, CALMODULIN-BINDING PROTEIN 4; STRN4 ZINEDIN; ZIN Asterisk 614768 TRANSMEMBRANE PROTEIN 66; TMEM66 SOCE-ASSOCIATED REGULATORY FACTOR; SARAF Asterisk 614769 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 1, S. CEREVISIAE, HOMOLOG OF; COA1 CHROMOSOME 7 OPEN READING FRAME 44; C7ORF44;; MITOCHONDRIAL TRANSLATION REGULATION ASSEMBLY INTERMEDIATE OF CYTOCHROME c OXIDASE 15; MITRAC15 Asterisk 614770 PET100, S. CEREVISIAE, HOMOLOG OF; PET100 CHROMOSOME 19 OPEN READING FRAME 79; C19ORF79 Asterisk 614771 PET117, S. CEREVISIAE, HOMOLOG OF; PET117 Asterisk 614772 CYTOCHROME c OXIDASE ASSEMBLY FACTOR 6; COA6 CHROMOSOME 1 OPEN READING FRAME 31; C1ORF31 Asterisk 614773 MSS51 MITOCHONDRIAL TRANSLATIONAL ACTIVATOR, S. CEREVISIAE, HOMOLOG OF; MSS51 ZINC FINGER MYND DOMAIN-CONTAINING 17; ZMYND17 Asterisk 614774 PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 1; PTCD1 KIAA0632 Asterisk 614775 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 3; COA3 COILED-COIL DOMAIN-CONTAINING PROTEIN 56; CCDC56;; MITOCHONDRIAL TRANSLATION REGULATION ASSEMBLY INTERMEDIATE OF CYTOCHROME c OXIDASE 12; MITRAC12 Asterisk 614776 SIK FAMILY KINASE 3; SIK3 SALT-INDUCIBLE KINASE 3;; KIAA0999 Asterisk 614777 MMS19 NUCLEOTIDE EXCISION REPAIR, S. CEREVISIAE, HOMOLOG OF; MMS19 MMS19-LIKE PROTEIN; MMS19L Asterisk 614778 CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT 2B; CIAO2B CIA2B;; FAMILY WITH SEQUENCE SIMILARITY 96, MEMBER B; FAM96B;; MSS19-INTERACTING PROTEIN OF 18 KD; MIP18 Number Sign 614779 HETEROTAXY, VISCERAL, 6, AUTOSOMAL; HTX6 Asterisk 614780 SORTING NEXIN 10; SNX10 Asterisk 614781 TECTONIN BETA-PROPELLER REPEAT-CONTAINING 1; TECPR1 KIAA1358 Number Sign 614782 TREMOR, HEREDITARY ESSENTIAL, 4; ETM4 Asterisk 614783 POC1 CENTRIOLAR PROTEIN, CHLAMYDOMONAS, HOMOLOG OF, A; POC1A PIX2;; PROTEOME OF CENTRIOLE 1A Asterisk 614784 POC1 CENTRIOLAR PROTEIN, CHLAMYDOMONAS, HOMOLOG OF, B; POC1B PIX1;; PROTEOME OF THE CENTRIOLE 1B Asterisk 614785 MITOCHONDRIAL FISSION FACTOR; MFF CHROMOSOME 2 OPEN READING FRAME 33; C2ORF33 Asterisk 614786 TRANSMEMBRANE PROTEIN 207; TMEM207 Asterisk 614787 POGO TRANSPOSABLE ELEMENT WITH ZNF DOMAIN; POGZ KIAA0461 Asterisk 614788 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 5; FGD5 Asterisk 614789 EGF DOMAIN-SPECIFIC O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; EOGT EOGT1;; CHROMOSOME 3 OPEN READING FRAME 64; C3ORF64 Asterisk 614790 WT1-INTERACTING PROTEIN; WTIP Asterisk 614791 MICRO RNA 199B; MIR199B miRNA199B;; MIRN199B Asterisk 614792 TRANSMEMBRANE AND UBIQUITIN-LIKE DOMAIN-CONTAINING PROTEIN 1; TMUB1 DENDRITIC CELL-DERIVED UBIQUITIN-LIKE PROTEIN; DULP;; SB144;; CHROMOSOME 7 OPEN READING FRAME 21; C7ORF21 Asterisk 614793 MIXED-LINEAGE KINASE 4 MLK4;; KIAA1804 Asterisk 614794 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 3; AGPAT3 1-ACYL-sn-GLYCEROL 3-PHOSPHATE ACYLTRANSFERASE 3;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, GAMMA;; LPAAT-GAMMA;; LPAAT3 Asterisk 614795 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 4; AGPAT4 1-ACYL-sn-GLYCEROL 3-PHOSPHATE ACYLTRANSFERASE 4;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, DELTA;; LPAAT-DELTA Asterisk 614796 1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 5; AGPAT5 1-ACYL-sn-GLYCEROL 3-PHOSPHATE ACYLTRANSFERASE 5;; LYSOPHOSPHATIDIC ACID ACYLTRANSFERASE, EPSILON;; LPAAT-EPSILON Asterisk 614797 PELLINO, DROSOPHILA, HOMOLOG OF, 1; PELI1 Asterisk 614798 PELLINO, DROSOPHILA, HOMOLOG OF, 2; PELI2 Asterisk 614799 CHROMOSOME 1 OPEN READING FRAME 109; C1ORF109 Number Sign 614800 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH SOPH SYNDROME Asterisk 614801 MALE-SPECIFIC LETHAL 1, DROSOPHILA, HOMOLOG OF; MSL1 Asterisk 614802 MALE-SPECIFIC LETHAL 2, DROSOPHILA, HOMOLOG OF; MSL2 KIAA1585 Asterisk 614803 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR A1; DMRTA1 DMRT4 Asterisk 614804 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR A2; DMRTA2 Asterisk 614805 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR B1; DMRTB1 Asterisk 614806 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR C2; DMRTC2 Number Sign 614807 MYOPATHY, CENTRONUCLEAR, 4; CNM4 Number Sign 614808 AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18 Number Sign 614809 CFHR5 DEFICIENCY Number Sign 614810 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5; MS5 Asterisk 614811 L-3-HYDROXYPROLINE DEHYDRATASE, TRANS; L3HYPDH TRANS-3-HYDROXYL-L-PROLINE DEHYDRATASE;; CHROMOSOME 14 OPEN READING FRAME 149; C14ORF149 Asterisk 614812 NUCLEAR PROTEIN, TRANSCRIPTIONAL REGULATOR, 1; NUPR1 CANDIDATE OF METASTASIS 1; COM1;; p8 Number Sign 614813 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS; SOFT SOFT SYNDROME Number Sign 614814 ADAMS-OLIVER SYNDROME 3; AOS3 Number Sign 614815 JOUBERT SYNDROME 18; JBTS18 Number Sign 614816 LOEYS-DIETZ SYNDROME 4; LDS4 ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS Number Sign 614817 INTERSTITIAL NEPHRITIS, KARYOMEGALIC; KMIN Asterisk 614818 FURRY, DROSOPHILA, HOMOLOG OF; FRY CHROMOSOME 13 OPEN READING FRAME 14; C13ORF14 Number Sign 614819 WEILL-MARCHESANI SYNDROME 3; WMS3 Number Sign 614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2 Asterisk 614821 PTCSC3 GENE; PTCSC3 Number Sign 614822 SPERMATOGENIC FAILURE 10; SPGF10 SPERMATOGENIC FAILURE WITH DEFECTIVE SPERM ANNULUS Number Sign 614823 AORTIC VALVE DISEASE 2; AOVD2 BICUSPID AORTIC VALVE;; AORTIC VALVE STENOSIS Asterisk 614824 ADAPTOR-RELATED PROTEIN COMPLEX 5, SIGMA-1 SUBUNIT; AP5S1 CHROMOSOME 20 OPEN READING FRAME 29; C20ORF29;; SIGMA 5 Asterisk 614825 RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 1; REPS1 Percent 614826 NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT; NYS7 Asterisk 614827 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 11; DNAJC11 Asterisk 614828 PROTEIN O-MANNOSE BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE 2; POMGNT2 GLYCOSYLTRANSFERASE-LIKE DOMAIN-CONTAINING PROTEIN 2; GTDC2;; CHROMOSOME 3 OPEN READING FRAME 39; C3ORF39;; AGO61 Asterisk 614829 ODONTOGENESIS-ASSOCIATED PHOSPHOPROTEIN; ODAPH CHROMOSOME 4 OPEN READING FRAME 26; C4ORF26 Number Sign 614830 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED Number Sign 614831 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 Number Sign 614832 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4; AI2A4 Number Sign 614833 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP POLYMICROGYRIA WITH SEIZURES; PMGYS Percent 614834 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 3; TTPP3 Asterisk 614835 ACTIN, BETA-LIKE, 2; ACTBL2 Percent 614836 HUMAN HERPESVIRUS 8, SUSCEPTIBILITY TO; HHV8S HHV-8, SUSCEPTIBILITY TO Number Sign 614837 HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA; HH8 Number Sign 614838 HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9 Number Sign 614839 HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA; HH10 Number Sign 614840 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11 Number Sign 614841 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC;; GONADOTROPIN DEFICIENCY, FAMILIAL IDIOPATHIC; FIGD Number Sign 614842 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13 Asterisk 614843 ODONTOGENIC AMELOBLAST-ASSOCIATED PROTEIN; ODAM APIN Number Sign 614844 NEPHRONOPHTHISIS 14; NPHP14 JOUBERT SYNDROME 19, INCLUDED; JBTS19, INCLUDED Number Sign 614845 NEPHRONOPHTHISIS 15; NPHP15 Number Sign 614846 TETRASOMY 15q26 LEVY-SHANSKE SYNDROME Number Sign 614847 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 Asterisk 614848 CENTROSOMAL PROTEIN, 164-KD; CEP164 KIAA1052 Number Sign 614849 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3 Number Sign 614850 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6; IIAE6 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4 Number Sign 614851 SECKEL SYNDROME 7; SCKL7 Number Sign 614852 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE; MCPH9 Asterisk 614853 CYTOKINE RECEPTOR-LIKE FACTOR 3; CRLF3 CYTOKINE RECEPTOR-RELATED PROTEIN 4; CYTOR4;; CYTOKINE RECEPTOR-LIKE MOLECULE 9; CRLM9;; CREME9 Asterisk 614854 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 59; LRRC59 p34 Asterisk 614855 TBC1 DOMAIN FAMILY, MEMBER 14; TBC1D14 KIAA1322 Number Sign 614856 OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 OI, TYPE XIII Number Sign 614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ Number Sign 614858 HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA; HH14 Number Sign 614859 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3, INCLUDED; CG3, INCLUDED Percent 614860 DYSTONIA 23; DYT23 Number Sign 614861 DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98 Number Sign 614862 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED; CG4, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6, INCLUDED; CG6, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C, INCLUDED; CGC, INCLUDED Number Sign 614863 PEROXISOME BIOGENESIS DISORDER 4B; PBD4B Asterisk 614864 DYNEIN AXONEMAL ASSEMBLY FACTOR 5; DNAAF5 HEAT REPEAT-CONTAINING PROTEIN 2; HEATR2 Asterisk 614865 D4Z4 BINDING ELEMENT TRANSCRIPT, NONCODING; DBET DBE TRANSCRIPT, NONCODING Number Sign 614866 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED; CG5, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED; CG10, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED; CGF, INCLUDED Number Sign 614867 PEROXISOME BIOGENESIS DISORDER 5B; PBD5B Number Sign 614868 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS; TIIAC STK4 DEFICIENCY;; MST1 DEFICIENCY Number Sign 614869 USHER SYNDROME, TYPE IJ; USH1J Number Sign 614870 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, INCLUDED; CG7, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B, INCLUDED; CGB, INCLUDED Number Sign 614871 PEROXISOME BIOGENESIS DISORDER 6B; PBD6B Number Sign 614872 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8, INCLUDED; CG8, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A, INCLUDED; CGA, INCLUDED Number Sign 614873 PEROXISOME BIOGENESIS DISORDER 7B; PBD7B Number Sign 614874 CILIARY DYSKINESIA, PRIMARY, 18; CILD18 CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS Percent 614875 METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA SPONDYLOENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA;; METAPHYSEAL ENCHONDRODYSPLASIA WITH 2-HYDROXYGLUTARIC ACIDURIA;; METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Number Sign 614876 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9, INCLUDED; CG9, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP D, INCLUDED; CGD, INCLUDED Number Sign 614877 PEROXISOME BIOGENESIS DISORDER 8B; PBD8B Number Sign 614878 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID Number Sign 614879 PEROXISOME BIOGENESIS DISORDER 9B; PBD9B REFSUM DISEASE, ADULT, 2;; PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 11, INCLUDED; CG11, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP R, INCLUDED; CGR, INCLUDED Number Sign 614880 HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15 Number Sign 614881 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5 Number Sign 614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED; CG12, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP G, INCLUDED; CGG, INCLUDED Number Sign 614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED; CG13, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED; CGH, INCLUDED Asterisk 614884 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 3B; VWA3B VWA DOMAIN-CONTAINING PROTEIN 3B Number Sign 614885 PEROXISOME BIOGENESIS DISORDER 11B; PBD11B Number Sign 614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 14, INCLUDED;; CG14, INCLUDED;; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP J, INCLUDED;; CGJ, INCLUDED Number Sign 614887 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K, INCLUDED; CGK, INCLUDED Asterisk 614888 ALPHA- AND GAMMA-ADAPTIN-BINDING PROTEIN; AAGAB p34 Number Sign 614889 IMMUNODEFICIENCY 28; IMD28 IMMUNODEFICIENCY 28, MYCOBACTERIOSIS;; IFNGR2 DEFICIENCY Number Sign 614890 IMMUNODEFICIENCY 29; IMD29 IL12B DEFICIENCY Number Sign 614891 IMMUNODEFICIENCY 30; IMD30 IL12RB1 DEFICIENCY Number Sign 614892 IMMUNODEFICIENCY 31A; IMD31A IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; STAT1 DEFICIENCY, AUTOSOMAL DOMINANT Number Sign 614893 IMMUNODEFICIENCY 32A; IMD32A IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; IRF8 DEFICIENCY, AUTOSOMAL DOMINANT;; CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT Caret 614894 MOVED TO 226990 Number Sign 614895 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F Number Sign 614896 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD Number Sign 614897 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 Number Sign 614898 SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 Number Sign 614899 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93 Number Sign 614900 DIAMOND-BLACKFAN ANEMIA 11; DBA11 Asterisk 614901 BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE KINASE; BCKDK BCKDH KINASE; BDK;; BCKD KINASE Asterisk 614902 RHO GTPase-ACTIVATING PROTEIN 33; ARHGAP33 TC10/CDC42 GTPase-ACTIVATING PROTEIN; TCGAP Asterisk 614903 SORTING NEXIN 16; SNX16 Asterisk 614904 SORTING NEXIN 7; SNX7 Asterisk 614905 SORTING NEXIN 8; SNX8 Asterisk 614906 SORTING NEXIN 11; SNX11 Asterisk 614907 PRECURSOR mRNA-PROCESSING FACTOR 39, S. CEREVISIAE, HOMOLOG OF; PRPF39 Asterisk 614908 HEAT SHOCK PROTEIN NUCLEAR IMPORT FACTOR HIKESHI; HIKESHI CHROMOSOME 11 OPEN READING FRAME 73; C11ORF73 Asterisk 614909 TRANSMEMBRANE PROTEIN 174; TMEM174 Asterisk 614910 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 6; C1QTNF6 CTRP6 Asterisk 614911 C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 4; C1QTNF4 CTRP4 Asterisk 614912 TRAB DOMAIN-CONTAINING PROTEIN 2A; TRABD2A TIKI1 Asterisk 614913 TRAB DOMAIN-CONTAINING PROTEIN 2B; TRABD2B TIKI2 Asterisk 614914 MICRO RNA 298; MIR298 miRNA298 Number Sign 614915 LETHAL CONGENITAL CONTRACTURE SYNDROME 4; LCCS4 Number Sign 614916 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4; CPVT4 Asterisk 614917 REQUIRED FOR MEIOTIC NUCLEAR DIVISION 1, S. CEREVISIAE, HOMOLOG OF; RMND1 Asterisk 614918 PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 3; PTCD3 Asterisk 614919 NITRIC OXIDE-ASSOCIATED PROTEIN 1; NOA1 CHROMOSOME 4 OPEN READING FRAME 14; C4ORF14 Number Sign 614920 PEROXISOME BIOGENESIS DISORDER 14B; PEX14B Number Sign 614921 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T CDG It; CDGIt;; PHOSPHOGLUCOMUTASE 1 DEFICIENCY;; PGM1 DEFICIENCY;; GLYCOGEN STORAGE DISEASE XIV; GSD14;; GSD XIV Number Sign 614922 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11 ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT Number Sign 614923 BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD BCKDK DEFICIENCY Number Sign 614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12 LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE; LTBL Asterisk 614925 OTOGELIN-LIKE PROTEIN; OTOGL CHROMOSOME 12 OPEN READING FRAME 64; C12ORF64 Number Sign 614926 PERRAULT SYNDROME 2; PRLTS2 Percent 614927 ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE; ECTD5 Percent 614928 ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE; ECTD6 Number Sign 614929 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE; ECTD7 Asterisk 614930 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 6; LRRC6 LEUCINE-RICH TESTIS PROTEIN; LRTP Number Sign 614931 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9 Number Sign 614932 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13 Asterisk 614933 LONG INTERGENIC NONCODING RNA, MUSCLE DIFFERENTIATION 1; LINCMD1 Number Sign 614934 DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70 Number Sign 614935 CILIARY DYSKINESIA, PRIMARY, 19; CILD19 CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS Percent 614936 PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB; PPKP1B Number Sign 614937 MYOCLONUS, FAMILIAL, 1; MYOCL1 MYOCLONUS, FAMILIAL CORTICAL; FCM Asterisk 614938 VAULT RNA 2-1; VTRNA2-1 VTRNA2;; NONCODING RNA 886; NC886;; PRECURSOR MICRO RNA 886;; PRE-MIR886;; CORD BLOOD LYMPHOCYTE-DERIVED NONCODING RNA 3; CBL3 Asterisk 614939 PHOSPHOGLYCERATE MUTASE FAMILY, MEMBER 5; PGAM5 Number Sign 614940 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT; ECTD11A ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT; HED Number Sign 614941 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B ECTODERMAL DYSPLASIA, HYPOHIDROTIC; HED;; ECTODERMAL DYSPLASIA, ANHIDROTIC; EDA Asterisk 614942 PHOSPHATIDYLGLYCEROPHOSPHATE SYNTHASE 1; PGS1 PGP SYNTHASE Asterisk 614943 TP53-REGULATED INHIBITOR OF APOPTOSIS 1; TRIAP1 p53-INDUCIBLE CELL SURVIVAL FACTOR; P53CSV;; HSPC132 Number Sign 614944 DEAFNESS, AUTOSOMAL RECESSIVE 84B; DFNB84B Number Sign 614945 DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B Number Sign 614946 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14 Number Sign 614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 Asterisk 614948 TRANSLOCATOR ASSEMBLY AND MAINTENANCE, MITOCHONDRIAL, S. CEREVISIAE, HOMOLOG OF; TAMM41 TAM41;; CHROMOSOME 3 OPEN READING FRAME 31; C3ORF31 Asterisk 614949 TRANSMEMBRANE PROTEIN 231; TMEM231 Asterisk 614950 TRANSMEMBRANE PROTEIN 17; TMEM17 Asterisk 614951 HEAT REPEAT-CONTAINING PROTEIN 3; HEATR3 SYNCHRONIZED IMPORT PROTEIN 1; SYO1;; SYMPORTIN Asterisk 614952 SCHLAFEN FAMILY, MEMBER 5; SLFN5 Asterisk 614953 SCHLAFEN FAMILY, MEMBER 11; SLFN11 Percent 614954 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3; CHTD3 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, WITH CARDIAC RHYTHM AND CONDUCTION DISTURBANCES Asterisk 614955 SCHLAFEN FAMILY, MEMBER 12; SLFN12 Asterisk 614956 SCHLAFEN FAMILY, MEMBER 12-LIKE; SLFN12L SLFN12-LIKE Asterisk 614957 SCHLAFEN FAMILY, MEMBER 13; SLFN13 Asterisk 614958 SCHLAFEN FAMILY, MEMBER 14; SLFN14 Number Sign 614959 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14 Asterisk 614960 PHOSPHOLIPASE D FAMILY, MEMBER 6; PLD6 MITOCHONDRIAL PHOSPHOLIPASE; MITOPLD;; ZUCCHINI, DROSOPHILA, HOMOLOG OF; ZUC Number Sign 614961 PONTOCEREBELLAR HYPOPLASIA, TYPE 8; PCH8 Number Sign 614962 LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD OBESITY, MORBID Number Sign 614963 LEPTIN RECEPTOR DEFICIENCY; LEPRD OBESITY, MORBID Asterisk 614964 EXTRACELLULAR LEUCINE-RICH REPEAT AND FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 1; ELFN1 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 28; PPP1R28 Asterisk 614965 SECERNIN 1; SCRN1 SES1;; KIAA0193 Asterisk 614966 SECERNIN 2; SCRN2 SES2 Asterisk 614967 SECERNIN 3; SCRN3 SES3 Asterisk 614968 SH2 DOMAIN-CONTAINING PROTEIN 4A; SH2D4A SH2A;; PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 38; PPP1R38 Number Sign 614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7 Number Sign 614970 JOUBERT SYNDROME 20; JBTS20 Asterisk 614971 TAURINE-UPREGULATED GENE 1, NONCODING; TUG1 Number Sign 614972 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3 Percent 614973 FOCAL FACIAL DERMAL DYSPLASIA 2, BRAUER-SETLEIS TYPE; FFDD2 BRAUER-SETLEIS SYNDROME Number Sign 614974 FOCAL FACIAL DERMAL DYSPLASIA 4; FFDD4 Asterisk 614975 FOXF1 ADJACENT NONCODING DEVELOPMENTAL REGULATORY RNA; FENDRR FOXF1 ANTISENSE RNA 1, NONCODING; FOXF1AS1;; FOXF1 LONG INTERGENIC NONCODING RNA;; lincFOXF1;; lncFOXF1;; TCONS_00024240 Number Sign 614976 CARPENTER SYNDROME 2; CRPT2 Asterisk 614977 LONG INTERGENIC NONCODING RNA 1081; LINC01081 LONG NONCODING RNA TCONS_00024764;; lncRNA TCONS_00024764;; TCONS_00024764 Asterisk 614978 LONG INTERGENIC NONCODING RNA 1082; LINC01082 LONG NONCODING RNA TCONS_00024492;; lncRNA TCONS_00024492;; TCONS_00024492 Percent 614979 SPLENOMEGALY, CYTOPENIA, AND VISION LOSS Number Sign 614980 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2 Asterisk 614981 ATPase INHIBITORY FACTOR 1; ATPIF1 IF1 Asterisk 614982 STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN-CONTAINING PROTEIN 1; SMCHD1 SMC HINGE DOMAIN-CONTAINING PROTEIN 1;; KIAA0650 Asterisk 614983 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE 2; BATF2 SUPPRESSOR OF ACTIVATOR PROTEIN 1, REGULATED BY INTERFERON; SARI;; SUPPRESSOR OF AP1, REGULATED BY IFN Asterisk 614984 DEHYDROGENASE E1 AND TRANSKETOLASE DOMAINS-CONTAINING PROTEIN 1; DHTKD1 KIAA1630 Asterisk 614985 HELLP SYNDROME-ASSOCIATED LONG NONCODING RNA; HELLPAR lncRNA HELLP; lncHELLP;; HELLP SYNDROME-ASSOCIATED LONG INTERGENIC NONCODING RNA;; lincRNA HELLP; lincHELLP Asterisk 614986 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II INHIBITOR 1; CAMK2N1 CAMKII INHIBITORY PROTEIN, ALPHA;; CAMKIIN-ALPHA Asterisk 614987 EPS8-LIKE PROTEIN 1; EPS8L1 EPS8-RELATED PROTEIN 1; EPS8R1 Asterisk 614988 EPS8-LIKE PROTEIN 2; EPS8L2 EPS8-RELATED PROTEIN 2; EPS8R2 Asterisk 614989 EPS8-LIKE PROTEIN 3; EPS8L3 EPS8-RELATED PROTEIN 3; EPS8R3 Percent 614990 USHER SYNDROME, TYPE IK; USH1K Asterisk 614991 UBIQUITIN CARBOXYL-TERMINAL ESTERASE L1, ANTISENSE; UCH1LAS UCH1L, ANTISENSE Asterisk 614992 LONG INTERGENIC NONCODING RNA 237; LINC00237 lincRNA 237 Asterisk 614993 CAM KINASE-LIKE VESICLE-ASSOCIATED; CAMKV 1G5 Asterisk 614994 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IG; CAMK1G CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE I-GAMMA;; CAMKI-GAMMA;; CAMK-LIKE CREB KINASE III; CLICK3 Asterisk 614995 INTERLEUKIN 17 RECEPTOR E; IL17RE Asterisk 614996 MYELINATING SCHWANN CELL ELEMENT; MSE Asterisk 614997 GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 2A; GATAD2A p66-ALPHA Asterisk 614998 GATA ZINC FINGER DOMAIN-CONTAINING PROTEIN 2B; GATAD2B p66;; p68;; p66-BETA;; KIAA1150 Asterisk 614999 CYTOCHROME P450, FAMILY 4, SUBFAMILY X, POLYPEPTIDE 1; CYP4X1 CYPIVX1 Asterisk 615000 TECTONIN BETA-PROPELLER REPEAT-CONTAINING PROTEIN 2; TECPR2 KIAA0329 Asterisk 615001 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 12C; ZC3H12C MCP1-INDUCED PROTEIN 3; MCPIP3 Asterisk 615002 CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE KINASE 2, BETA; CAMKK2 CAMKK-BETA; CAMKKB;; KIAA0787 Asterisk 615003 DDHD DOMAIN-CONTAINING PROTEIN 2; DDHD2 KIAA0725 Asterisk 615004 LEUCINE-RICH REPEAT, IMMUNOGLOBULIN-LIKE, AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 3; LRIT3 FIGLER4 Number Sign 615005 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5 Number Sign 615006 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15 Number Sign 615007 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4 Number Sign 615008 NEPHROTIC SYNDROME, TYPE 7; NPHS7 NEPHROTIC SYNDROME, TYPE 7, WITH MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7, INCLUDED; AHUS7, INCLUDED;; AHUS, SUSCEPTIBILITY TO, 7, INCLUDED Number Sign 615009 SCHUURS-HOEIJMAKERS SYNDROME; SHMS MENTAL RETARDATION, AUTOSOMAL DOMINANT 17; MRD17 Number Sign 615010 AICARDI-GOUTIERES SYNDROME 6; AGS6 Number Sign 615011 PHOSPHOHYDROXYLYSINURIA; PHLU Asterisk 615012 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER G; HIST1H2AG HISTONE GENE CLUSTER 1, H2AG;; HIST1 CLUSTER, H2AG;; H2A HISTONE FAMILY, MEMBER P; H2AFP;; H2A/P Asterisk 615013 HISTONE GENE CLUSTER 1, H2A HISTONE FAMILY, MEMBER H; HIST1H2AH HISTONE GENE CLUSTER 1, H2AH;; HIST1 CLUSTER, H2AH;; H2A/S Asterisk 615014 HISTONE GENE CLUSTER 2, H2A HISTONE FAMILY, MEMBER B; HIST2H2AB HISTONE GENE CLUSTER 2, H2AB;; HIST2 CLUSTER, H2AB Asterisk 615015 HISTONE GENE CLUSTER 3, H2A HISTONE; HIST3H2A HISTONE GENE CLUSTER 3, H2A;; HIST3 CLUSTER, H2A Asterisk 615016 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY J, MEMBER 3; OR2J3 Asterisk 615017 MICRO RNA 139; MIR139 miRNA139;; MIR139-5p MICRO RNA 139-3p, INCLUDED; MIR139-3p, INCLUDED Asterisk 615019 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 5; ELP5 DERMAL PAPILLA-DERIVED PROTEIN 6; DERP6;; CHROMOSOME 17 OPEN READING FRAME 81; C17ORF81 Asterisk 615020 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 6; ELP6 TRANSMEMBRANE PROTEIN 103; TMEM103;; CHROMOSOME 3 OPEN READING FRAME 75; C3ORF75 Number Sign 615021 BLOOD GROUP, GLOBOSIDE SYSTEM; GLOB Percent 615022 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7; ARCI7 Number Sign 615023 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9 Number Sign 615024 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10; ARCI10 Number Sign 615025 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q; CMT2Q CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q Number Sign 615026 RIBOFLAVIN DEFICIENCY; RBFVD Asterisk 615027 SIN3-HDAC COMPLEX ASSOCIATED FACTOR; SINHCAF FAMILY WITH SEQUENCE SIMILARITY 60, MEMBER A; FAM60A Number Sign 615028 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE; EBNS Asterisk 615029 PRECEREBELLIN 4; CBLN4 Number Sign 615030 SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56 Number Sign 615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 Number Sign 615032 AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 Number Sign 615033 SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54 Number Sign 615034 DYSTONIA 24; DYT24 Number Sign 615035 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 Asterisk 615036 MICRO RNA 410; MIR410 miRNA410 Asterisk 615037 MICRO RNA 487B; MIR487B miRNA487B Asterisk 615038 COILED-COIL DOMAIN-CONTAINING PROTEIN 114: CCDC114 Asterisk 615039 N-DEACETYLASE/N-SULFOTRANSFERASE 4; NDST4 HEPARAN GLUCOSAMINYL N-DEACETYLASE/N-SULFOTRANSFERASE 4;; HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE 4 Number Sign 615040 EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1 Number Sign 615041 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED Number Sign 615042 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U CDG Iu; CDGIu Number Sign 615043 SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43 Asterisk 615044 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER J; HIST1H2BJ HISTONE GENE CLUSTER 1, H2BJ;; HIST1 CLUSTER, H2BJ Asterisk 615045 HISTONE GENE CLUSTER 1, H2B HISTONE FAMILY, MEMBER K; HIST1H2BK HISTONE GENE CLUSTER 1, H2BK;; HIST1 CLUSTER, H2BK Asterisk 615046 HISTONE GENE CLUSTER 3, H2B HISTONE FAMILY, MEMBER B; HIST3H2BB HISTONE GENE CLUSTER 3, H2BB;; HIST3 CLUSTER, H2BB Asterisk 615047 TETRATRICOPEPTIDE REPEAT-, ANKYRIN REPEAT-, AND COILED-COIL-CONTAINING PROTEIN 2; TANC2 KIAA1636 Number Sign 615048 SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ Asterisk 615049 WW DOMAIN-CONTAINING ADAPTOR WITH COILED-COIL REGION; WAC KIAA1844 Asterisk 615050 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 5; ASB5 Asterisk 615051 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 6; ASB6 Asterisk 615052 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 7; ASB7 Asterisk 615053 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 8; ASB8 Asterisk 615054 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 10; ASB10 Asterisk 615055 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 13; ASB13 Asterisk 615056 ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 16; ASB16 Caret 615057 MOVED TO 244450 Number Sign 615058 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F; CSNB1F Number Sign 615059 HYPOTRICHOSIS 11; HYPT11 Asterisk 615060 SECRETOGLOBIN, FAMILY 1D, MEMBER 1; SCGB1D1 LIPOPHILIN A; LPNA Asterisk 615061 SECRETOGLOBIN, FAMILY 1D, MEMBER 2; SCGB1D2 LIPOPHILIN B; LPNB Asterisk 615062 SECRETOGLOBIN, FAMILY 1D, MEMBER 4; SCGB1D4 INTERFERON-GAMMA-INDUCIBLE SECRETOGLOBIN; IIS Asterisk 615063 SECRETOGLOBIN, FAMILY 2B, MEMBER 2; SCGB2B2 Asterisk 615064 SOLUTE CARRIER FAMILY 25 (CARNITINE/ACYLCARNITINE TRANSLOCASE), MEMBER 29; SLC25A29 CARNITINE-ACYLCARNITINE TRANSLOCASE-LIKE; CACL;; MITOCHONDRIAL ORNITHINE TRANSPORTER 3; ORNT3 Number Sign 615065 ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D Number Sign 615066 OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 OI, TYPE XIV Number Sign 615067 CILIARY DYSKINESIA, PRIMARY, 20; CILD20 CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS Asterisk 615068 ECTOPIC P-GRANULES AUTOPHAGY PROTEIN 5, C. ELEGANS, HOMOLOG OF; EPG5 KIAA1632;; HEEW1 Asterisk 615069 HISTONE GENE CLUSTER 4, H4 HISTONE; HIST4H4 HISTONE GENE CLUSTER 4, H4;; HIST4 CLUSTER, H4;; H4/P Asterisk 615070 MICRO RNA 590; MIR590 miRNA590;; MIRN590 Number Sign 615071 ALAZAMI SYNDROME; ALAZS FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM Number Sign 615072 BRACHYDACTYLY, TYPE A1, C; BDA1C Number Sign 615073 DYSTONIA 25; DYT25 Number Sign 615074 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 Number Sign 615075 NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, FORMERLY; MRD19, FORMERLY Asterisk 615076 MITOCHONDRIAL GENOME MAINTENANCE EXONUCLEASE 1; MGME1 CHROMOSOME 20 OPEN READING FRAME 72; C20ORF72 Asterisk 615077 TBC1 DOMAIN FAMILY, MEMBER 30; TBC1D30 KIAA0984 Asterisk 615078 GOLGI TRANSPORT 1B; GOLT1B GOT1B;; GERM CELL TUMOR 2; GCT2 Asterisk 615079 ASUNDER, SPERMATOGENESIS REGULATOR; ASUN ASUNDER, DROSOPHILA, HOMOLOG OF;; MAT89BB, DROSOPHILA, HOMOLOG OF; MAT89BB;; GERM CELL TUMOR 1; GCT1 Percent 615080 ALZHEIMER DISEASE 17; AD17 ALZHEIMER DISEASE 17, LATE-ONSET Number Sign 615081 SPERMATOGENIC FAILURE 11; SPGF11 Number Sign 615082 C3HEX, ABILITY TO SMELL Number Sign 615083 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 Number Sign 615084 MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11 Number Sign 615085 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8 Asterisk 615086 HARBINGER TRANSPOSASE-DERIVED GENE 1; HARBI1 Caret 615087 MOVED TO 613091 Asterisk 615088 AUTOPHAGY 13, S. CEREVISIAE, HOMOLOG OF; ATG13 KIAA0652;; PARAPROTEIN TARGET 8; PARATARG8;; PARATARG 8 Asterisk 615089 AUTOPHAGY-RELATED PROTEIN 101; ATG101 CHROMOSOME 12 OPEN READING FRAME 44; C12ORF44 Asterisk 615090 INTERFERON, LAMBDA-4; IFNL4 Number Sign 615091 AUTISM, SUSCEPTIBILITY TO, 19; AUTS19 Number Sign 615092 LEFT VENTRICULAR NONCOMPACTION 7; LVNC7 Asterisk 615093 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS K; LY6K Asterisk 615094 PROSPERO-RELATED HOMEOBOX 2; PROX2 Number Sign 615095 MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10 Asterisk 615096 MICRO RNA 217; MIR217 miRNA217 Asterisk 615097 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 13; SLC6A13 GABA TRANSPORTER 2; GAT2;; GABA TRANSPORTER 3, MOUSE, HOMOLOG OF; GAT3 Asterisk 615098 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 28; TTC28 TPRBK;; KIAA1043 Asterisk 615099 ERYTHROFERRONE; ERFE FAMILY WITH SEQUENCE SIMILARITY 132, MEMBER B; FAM132B;; C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 15; CIQTNF15; CTRP15;; MYONECTIN Asterisk 615100 CTTNBP2 N TERMINUS-LIKE PROTEIN; CTTNBP2NL Asterisk 615101 TUBULIN, BETA-2A; TUBB2A TUBULIN, BETA, CLASS IIA Percent 615102 TYSHCHENKO SYNDROME Asterisk 615103 TUBULIN, BETA-6; TUBB6 TUBULIN, BETA, CLASS V Asterisk 615104 NCK-ASSOCIATED PROTEIN 5-LIKE; NCKAP5L NCKAP5-LIKE;; KIAA1602 Asterisk 615105 METHYLTHIORIBOSE-1-PHOSPHATE ISOMERASE, S. CEREVISIAE, HOMOLOG OF; MRI1 MEDIATOR OF RHOA-DEPENDENT INVASION; MRDI Caret 615106 MOVED TO 158350 Number Sign 615107 COWDEN SYNDROME 4; CWS4 Number Sign 615108 COWDEN SYNDROME 5; CWS5 Number Sign 615109 COWDEN SYNDROME 6; CWS6 Asterisk 615110 WD REPEAT-CONTAINING PROTEIN 53; WDR53 Asterisk 615111 DENN/MADD DOMAIN-CONTAINING PROTEIN 2D; DENND2D Number Sign 615112 UROFACIAL SYNDROME 2; UFS2 Number Sign 615113 MICROPHTHALMIA, ISOLATED 8; MCOP8 Asterisk 615114 ZINC FINGER PROTEIN 516; ZNF516 KIAA0222 Asterisk 615115 ADDITIONAL SEX COMBS-LIKE 3; ASXL3 KIAA1713 Asterisk 615116 SPERMATID MATURATION PROTEIN 1; SPEM1 CHROMOSOME 17 OPEN READING FRAME 83; C17ORF83 Asterisk 615117 CHROMOSOME 2 OPEN READING FRAME 88; C2ORF88 SMALL MEMBRANE PROTEIN KINASE A-ANCHORING PROTEIN; SMAKAP Caret 615118 MOVED TO 269300 Number Sign 615119 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2; CEMCOX2 Number Sign 615120 MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTS; CMSPPD;; MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY Percent 615121 STOMATIN-LIKE PROTEIN-2, HYPERPHOSPHORYLATION OF HYPERPHOSPHORYLATED PARATARG-7 Number Sign 615122 LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 CD27 DEFICIENCY Asterisk 615123 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13A; ANKRD13A Asterisk 615124 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13B; ANKRD13B Asterisk 615125 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13C; ANKRD13C Asterisk 615126 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 13D; ANKRD13D Percent 615127 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4; FAME4 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 4; FCMTE4 Asterisk 615128 STIMULATED BY RETINOIC ACID 13; STRA13 CENTROMERIC PROTEIN X; CENPX;; FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 10-KD; FAAP10;; FANCM-INTERACTING HISTONE-FOLD PROTEIN 2; MHF2;; RETINOIC ACID-INDUCIBLE GENE D9; D9 Asterisk 615129 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 5; GALNT5 GalNAc TRANSFERASE 5; GalNAcT5 Asterisk 615130 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 11; GALNT11 GalNAc TRANSFERASE 11; GalNAcT11 Asterisk 615131 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 15; GALNT15 GalNAc TRANSFERASE 15; GalNAcT15 Asterisk 615132 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 16; GALNT16 GalNAc TRANSFERASE 16; GalNAcT16;; GalNAc TRANSFERASE-LIKE 1; GALNTL1;; KIAA1130 Asterisk 615133 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 5; GALNTL5 GalNAc TRANSFERASE 19; GalNAcT19 Number Sign 615134 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9 Number Sign 615135 MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV Asterisk 615136 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 18; GALNT18 GalNAc TRANSFERASE 18; GalNAcT18;; GalNAc TRANSFERASE-LIKE 4; GALNTL4 Asterisk 615137 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 17; WBSCR17 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 3; GALNTL3;; GalNAc TRANSFERASE 17; GalNAcT17 Asterisk 615138 UDP-N-ACETYL-ALPHA-D-GALACTOSAMINE:POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE-LIKE 6; GALNTL6 GalNAc TRANSFERASE 20; GalNAcT20 Number Sign 615139 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS Asterisk 615140 CHROMOSOME 12 OPEN READING FRAME 57; C12ORF57 C10 Caret 615141 MOVED TO 177700 Asterisk 615142 KINESIN FAMILY MEMBER 2B; KIF2B Asterisk 615143 UBIQUITIN-SPECIFIC PROTEASE 20; USP20 VHL-INTERACTING DEUBIQUITINATING ENZYME 2; VDU2;; KIAA1003 Asterisk 615144 PROTEASE, SERINE, 55; PRSS55 TESTIS SERINE PROTEASE 1; TSP1 Number Sign 615145 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9 MICROPHTHALMIA, SYNDROMIC 15, INCLUDED; MCOPS15, INCLUDED;; MICROPHTHALMIA AND/OR COLOBOMA WITH DEVELOPMENTAL DELAY, INCLUDED Asterisk 615146 UBIQUITIN-SPECIFIC PROTEASE 33; USP33 VHL-INTERACTING DEUBIQUITINATING ENZYME 1; VDU1;; KIAA1097 Number Sign 615147 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME; RDCCAS Asterisk 615148 MICRO RNA 551A; MIR551A miRNA155A Asterisk 615149 MICRO RNA 495; MIR495 miRNA495 Asterisk 615150 MICRO RNA 191; MIR191 miRNA191 Asterisk 615151 MICRO RNA 30C-1; MIR30C1 miNA30C1 Asterisk 615152 KELCH DOMAIN-CONTAINING PROTEIN 10; KLHDC10 SCRUIN-LIKE AT THE MIDLINE, DROSOPHILA, HOMOLOG OF;; SLIM, DROSOPHILA, HOMOLOG OF Asterisk 615153 MIXED LINEAGE KINASE DOMAIN-LIKE PROTEIN; MLKL Asterisk 615154 DPY30 DOMAIN-CONTAINING PROTEIN 1; DYDC1 Number Sign 615155 STEEL SYNDROME; STLS DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE Number Sign 615156 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6; PEOA6 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6 Number Sign 615157 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2 Number Sign 615158 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3; MC3DN3 Number Sign 615159 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4 Number Sign 615160 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5 Asterisk 615161 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DQ BETA-2; HLA-DQB2 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DX BETA; HLA-DXB;; DX-BETA Percent 615162 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35; MRT35 Percent 615163 CONE-ROD DYSTROPHY 17; CORD17 Asterisk 615164 AKIRIN 1; AKIRIN1 Asterisk 615165 AKIRIN 2; AKIRIN2 Asterisk 615166 COX ASSEMBLY MITOCHONDRIAL PROTEIN 1, S. CEREVISIAE, HOMOLOG OF; CMC1 MITOCHONDRIAL METALLOCHAPERONE-LIKE PROTEIN;; C3ORF68 Asterisk 615167 LEUCINE-RICH REPEATS- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; LRWD1 ORIGIN RECOGNITION COMPLEX-ASSOCIATED PROTEIN; ORCA;; ORC-ASSOCIATED PROTEIN;; CENTROMERE PROTEIN 33 Asterisk 615168 ARCHAELYSIN FAMILY METALLOPEPTIDASE 1; AMZ1 ARCHAEMETZINCIN 1;; KIAA1950 Asterisk 615169 ARCHAELYSIN FAMILY METALLOPEPTIDASE 2; AMZ2 ARCHAEMETZINCIN 2 Percent 615170 WAHAB SYNDROME CAMPTODACTYLY, CLINODACTYLY, SYNDACTYLY, AND BIFID TOE SYNDROME Asterisk 615171 LOC100134040 GENE LOC100134040 Asterisk 615172 RING FINGER PROTEIN, TRANSMEMBRANE 1; RNFT1 Asterisk 615173 LONG INTERGENIC NONCODING RNA, REGULATOR OF REPROGRAMMING; LINC-ROR lincRNA ROR; lincROR NULL 615174 L-THREONINE DEHYDROGENASE, PSEUDOGENE; TDH Asterisk 615175 FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER B; FAM57B Asterisk 615176 NPTN INTRONIC TRANSCRIPT 1, NONCODING; NPTNIT1 LONG NONCODING RNA, LOW EXPRESSION IN TUMOR;; lncRNA LET Asterisk 615177 RING FINGER PROTEIN 126; RNF126 Asterisk 615178 KXDL MOTIF-CONTAINING PROTEIN 1; KXD1 CHROMOSOME 19 OPEN READING FRAME 50; C19ORF50 Number Sign 615179 ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7 Asterisk 615180 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 21, YEAST, HOMOLOG OF; TIMM21 TIM21 Number Sign 615181 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED Number Sign 615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD Asterisk 615183 CHROMOSOME 1 OPEN READING FRAME 86; C1ORF86 FANCONI ANEMIA-ASSOCIATED PROTEIN, 20-KD; FAAP20 Number Sign 615184 CARDIOMYOPATHY, DILATED, 1II; CMD1II Number Sign 615185 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F; CMTDIF Asterisk 615186 CWC22 SPLICEOSOME-ASSOCIATED PROTEIN, S. CEREVISIAE, HOMOLOG OF; CWC22 KIAA1604;; NUCAMPHOLIN, DROSOPHILA, HOMOLOG OF; NCM Asterisk 615187 POST-GPI ATTACHMENT TO PROTEINS 2; PGAP2 FGF RECEPTOR-ACTIVATING PROTEIN 1; FRAG1 Number Sign 615188 CATARACT 39, MULTIPLE TYPES; CTRCT39 Asterisk 615189 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 55; ANKRD55 Number Sign 615190 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, INCLUDED; DKCA4, INCLUDED Number Sign 615191 LISSENCEPHALY 5; LIS5 Percent 615192 BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 4; BWQTL4 Number Sign 615193 BLEEDING DISORDER, PLATELET-TYPE, 15; BDPLT15 MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED Asterisk 615194 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 2; DHRS2 SDR FAMILY, MEMBER 2;; HEP27 Asterisk 615195 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4-LIKE 1; DHRS4L1 DHRS4-LIKE 1 Asterisk 615196 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 4-LIKE 2; DHRS4L2 DHRS4-LIKE 2;; DHRS4P1 Percent 615197 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 8; RLS8 Percent 615198 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; OSMD Asterisk 615199 SOLUTE CARRIER FAMILY 35, MEMBER G5; SLC35G5 ACYL-MALONYL-CONDENSING ENZYME; AMAC;; ACYL-MALONYL-CONDENSING ENZYME 1-LIKE 2; AMAC1L2 Asterisk 615200 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY F, MEMBER 1; PLEKHF1 LYSOSOME-ASSOCIATED APOPTOSIS-INDUCING PROTEIN CONTAINING PH AND FYVE DOMAINS; LAPF;; PH AND FYVE DOMAINS-CONTAINING PROTEIN 1; PHAFIN1;; PHAFIN 1 Asterisk 615201 MICRO RNA 1909; MIR1909 miRNA1909 Asterisk 615202 MICRO RNA 1915; MIR1915 miRNA1915 Asterisk 615203 RHOMBOID DOMAIN-CONTAINING PROTEIN 2; RHBDD2 Asterisk 615204 UPREGULATED DURING SKELETAL MUSCLE GROWTH 5, MOUSE, HOMOLOG OF; USMG5 DIABETES-ASSOCIATED PROTEIN IN INSULIN-SENSITIVE TISSUES; DAPIT Asterisk 615205 SERINE PROTEASE INHIBITOR, KAZAL-TYPE, 13; SPINK13 Number Sign 615206 IMMUNODEFICIENCY 11; IMD11A IMMUNODEFICIENCY 11; IMD11;; CARD11 IMMUNODEFICIENCY Number Sign 615207 IMMUNODEFICIENCY 56; IMD56 IL21R IMMUNODEFICIENCY Asterisk 615208 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY F, MEMBER 2; PLEKHF2 ENDOPLASMIC RETICULUM-ASSOCIATED APOPTOSIS-INVOLVED PROTEIN CONTAINING PH AND FYVE DOMAINS; EAPF;; PH AND FYVE DOMAINS-CONTAINING PROTEIN 2; PHAFIN2;; PHAFIN 2 Asterisk 615209 MICRO RNA 149; MIR149 miRNA149;; MIR149-5p MICRO RNA 149*, INCLUDED; MIR149*, INCLUDED;; MICRO RNA 149-3p, INCLUDED; MIR149-3p, INCLUDED Asterisk 615210 PEST-CONTAINING NUCLEAR PROTEIN; PCNP Asterisk 615211 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 2, E3 UBIQUITIN PROTEIN LIGASE; UHRF2 NP95/ICBP90-LIKE RING FINGER PROTEIN; NIRF Asterisk 615212 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 38; LRRC38 BK CHANNEL, AUXILIARY GAMMA SUBUNIT 4 Asterisk 615213 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 55; LRRC55 BK CHANNEL, AUXILIARY GAMMA SUBUNIT 3 Number Sign 615214 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT Asterisk 615215 POTASSIUM CHANNEL, SUBFAMILY U, MEMBER 1; KCNU1 SLOWPOKE, DROSOPHILA, HOMOLOG OF, 3; SLO3 Asterisk 615216 KINESIN FAMILY MEMBER C2; KIFC2 Number Sign 615217 ATAXIA-OCULOMOTOR APRAXIA 3; AOA3 Asterisk 615218 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 52; LRRC52 BK CHANNEL, AUXILIARY GAMMA SUBUNIT 2 Number Sign 615219 HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, FORMERLY Number Sign 615220 OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 OI, TYPE XV Number Sign 615221 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16 OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO Number Sign 615222 SMITH-MCCORT DYSPLASIA 2; SMC2 Asterisk 615223 INTERFERON, EPSILON; IFNE IFNE1;; INTERFERON, TAU-1; IFNT1 Number Sign 615224 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2; FASPS2 Number Sign 615225 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, FORMERLY; CIDED, FORMERLY Number Sign 615226 POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6 Asterisk 615227 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 3; C1QL3 C1q/TNF-RELATED PROTEIN 13; CTRP13;; K100 Number Sign 615228 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4; MC5DN4 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5A1 TYPE Asterisk 615229 COMPLEMENT COMPONENT 1, q SUBCOMPONENT-LIKE 4; C1QL4 C1q/TNF-RELATED PROTEIN 11; CTRP11 Asterisk 615230 LONG INTERGENIC NONCODING RNA 1080; LINC01080 lncRNA TCONS_00021856;; LONG INTERGENIC NONCODING RNA TCONS_00021856;; lincRNA TCONS_00021856;; TCONS_00021856 Asterisk 615231 RING FINGER AND CCCH-TYPE ZINC FINGER DOMAINS-CONTAINING PROTEIN 2; RC3H2 ROQUIN 2;; MEMBRANE-ASSOCIATED NUCLEIC ACID-BINDING PROTEIN; MNAB Number Sign 615232 SCHIZOPHRENIA 18; SCZD18 SCHIZOPHRENIA 18 WITH OR WITHOUT AN AFFECTIVE DISORDER Number Sign 615233 RETINITIS PIGMENTOSA 66; RP66 Number Sign 615234 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2; AHMIO2 Number Sign 615235 CARDIOMYOPATHY, DILATED, 1JJ; CMD1JJ NULL 615236 WOODS SYNDROME Number Sign 615237 CONGENITAL SHORT BOWEL SYNDROME; CSBS Number Sign 615238 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5; FPLD5 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS Asterisk 615239 MICRO RNA 7-1; MIR7-1 miRNA7-1;; MIR7 Asterisk 615240 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 15; KCTD15 Asterisk 615241 TERMINAL DIFFERENTIATION-INDUCED NONCODING RNA; TINCR TISSUE DIFFERENTIATION-INDUCING NONCODING RNA Asterisk 615242 SMALL INTEGRAL MEMBRANE PROTEIN 1; SMIM1 Asterisk 615243 DEFENSIN, BETA, 114; DEFB114 DEFENSIN, BETA, 14; DEFB14 Number Sign 615244 NEPHROTIC SYNDROME, TYPE 8; NPHS8 Asterisk 615245 MICRO RNA 671; MIR671 miRNA671 Asterisk 615246 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 2; ZBED2 Asterisk 615247 PROTEIN-O-MANNOSE KINASE; POMK PROTEIN KINASE-LIKE PROTEIN SGK196;; SUGEN KINASE 196; SGK196 Number Sign 615248 CARDIOMYOPATHY, DILATED, 1KK; CMD1KK CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED; CMH22, INCLUDED;; CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, INCLUDED; RCM4, INCLUDED Number Sign 615249 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED Asterisk 615250 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 3; ZBED3 Asterisk 615251 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 5; ZBED5 BUSTER1 Asterisk 615252 ZBED6 C TERMINUS-LIKE PROTEIN; ZBED6CL CHROMOSOME 7 OPEN READING FRAME 29; C7ORF29 Asterisk 615253 CHROMOSOME 5 OPEN READING FRAME 54; C5ORF54 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 8; ZBED8;; BUSTER3 Asterisk 615254 SCAN DOMAIN-CONTAINING PROTEIN 3; SCAND3 ZINC FINGER BED DOMAIN-CONTAINING PROTEIN 9; ZBED9;; BUSTER4;; KIAA1925 Asterisk 615255 METHYLTRANSFERASE-LIKE 18; METTL18 CHROMOSOME 1 OPEN READING FRAME 156; C1ORF156 Asterisk 615256 ELECTRON TRANSFER FLAVOPROTEIN BETA-SUBUNIT LYSINE METHYLTRANSFERASE; ETFBKMT METHYLTRANSFERASE-LIKE 20; METTL20;; ETF-BETA LYSINE METHYLTRANSFERASE;; CHROMOSOME 12 OPEN READING FRAME 72; C12ORF72 Asterisk 615257 METHYLTRANSFERASE-LIKE 21A; METTL21A FAMILY WITH SEQUENCE SIMILARITY 119, MEMBER A; FAM119A Asterisk 615258 EEF1A LYSINE METHYLTRANSFERASE 3; EEF1AKMT3 METHYLTRANSFERASE-LIKE 21B; METTL21B;; FAMILY WITH SEQUENCE SIMILARITY 119, MEMBER B; FAM119B Asterisk 615259 METHYLTRANSFERASE-LIKE 21C; METTL21C CHROMOSOME 13 OPEN READING FRAME 39; C13ORF39 Asterisk 615260 VALOSIN-CONTAINING PROTEIN LYSINE METHYLTRANSFERASE; VCPKMT METHYLTRANSFERASE-LIKE 21D; METTL21D;; CHROMOSOME 14 OPEN READING FRAME 138; C14ORF138 Asterisk 615261 METHYLTRANSFERASE-LIKE 22; METTL22 CHROMOSOME 16 OPEN READING FRAME 68; C16ORF68 Asterisk 615262 METHYLTRANSFERASE-LIKE 23; METTL23 CHROMOSOME 17 OPEN READING FRAME 95; C17ORF95 Asterisk 615263 EUKARYOTIC ELONGATION FACTOR 2 LYSINE METHYLTRANSFERASE; EEF2KMT EEF2 LYSINE METHYLTRANSFERASE;; FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER A; FAM86A Number Sign 615264 BLOOD GROUP, VEL SYSTEM; VEL VEL-NULL PHENOTYPE, INCLUDED Asterisk 615265 FORMIN-BINDING PROTEIN 4; FNBP4 FBP30;; KIAA1014 Number Sign 615266 HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17 Number Sign 615267 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 Number Sign 615268 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4 Number Sign 615269 HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19 Number Sign 615270 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20 Number Sign 615271 HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21 Number Sign 615272 FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ Number Sign 615273 CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY; CDG1V, FORMERLY Number Sign 615274 CATARACT 15, MULTIPLE TYPES; CTRCT15 Asterisk 615275 ACONITATE DECARBOXYLASE 1; ACOD1 IMMUNORESPONSIVE GENE 1, MOUSE, HOMOLOG OF; IRG1 Asterisk 615276 CERAMIDE SYNTHASE 3; CERS3 LAG1, S. CEREVISIAE, HOMOLOG OF, 3; LASS3 Number Sign 615277 CATARACT 19, MULTIPLE TYPES; CTRCT19 Number Sign 615278 CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2 Number Sign 615279 CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3 Number Sign 615280 CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4 Number Sign 615281 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL ASPARTYL-tRNA SYNTHETASE DEFICIENCY Number Sign 615282 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 Asterisk 615283 EXOCYST COMPLEX COMPONENT 8; EXOC8 EXOCYST COMPLEX, 84-KD SUBUNIT; EXO84;; SEC84, S. CEREVISIAE, HOMOLOG OF; SEC84 Number Sign 615284 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3; CMT4B3 Number Sign 615285 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 Number Sign 615286 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36 Number Sign 615287 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED Asterisk 615288 DYNEIN REGULATORY COMPLEX, SUBUNIT 1, CHLAMYDOMONAS, HOMOLOG OF; DRC1 COILED-COIL DOMAIN-CONTAINING PROTEIN 164; CCDC164;; CHROMOSOME 2 OPEN READING FRAME 39; C2ORF39 Asterisk 615289 MITOTIC SPINDLE-POSITIONING PROTEIN; MISP MITOTIC INTERACTOR AND SUBSTRATE OF PLK1;; CHROMOSOME 19 OPEN READING FRAME 21; C19ORF21 Number Sign 615290 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT; SMALED2A Asterisk 615291 BETA-1,3-GALACTOSYLTRANSFERASE 6; B3GALT6 UDP-GAL:BETA-GAL BETA-1,3-GALACTOSYLTRANSFERASE, POLYPEPTIDE 6;; GALACTOSYLTRANSFERASE II; GALTII;; BETA-3-GALT6 Asterisk 615292 FAMILY WITH SEQUENCE SIMILARITY 111, MEMBER A; FAM111A KIAA1895 Number Sign 615293 MYOFIBROMATOSIS, INFANTILE, 2; IMF2 Number Sign 615294 CILIARY DYSKINESIA, PRIMARY, 21; CILD21 CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS Asterisk 615295 UBIQUITIN-SPECIFIC PROTEASE 34; USP34 KIAA0570 Asterisk 615296 INTERLEUKIN 1 FAMILY, MEMBER 10; IL1F10 INTERLEUKIN 38; IL38;; INTERLEUKIN 1 RECEPTOR ANTAGONIST HOMOLOG 2; IL1HY2;; FAMILY OF INTERLEUKIN 1-THETA;; FIL1-THETA Number Sign 615297 ADAMS-OLIVER SYNDROME 4; AOS4 Number Sign 615298 SYMPHALANGISM, PROXIMAL, 1B; SYM1B Asterisk 615299 NUCLEOREDOXIN-LIKE PROTEIN 2; NXNL2 ROD-DERIVED CONE VIABILITY FACTOR 2; RDCVF2 Number Sign 615300 PERRAULT SYNDROME 4; PRLTS4 Asterisk 615301 TRANSMEMBRANE PROTEIN 214; TMEM214 Asterisk 615302 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 3; ADAT3 TAD3, S. CEREVISIAE, HOMOLOG OF; TAD3 Asterisk 615303 TRANSFER RNA GLYCINE 3; TRNAG3 Asterisk 615304 TRANSFER RNA VALINE 32; TRNAV32 Asterisk 615305 TRANSFER RNA ARGININE 2; TRNAR2 Asterisk 615306 TRANSFER RNA VALINE 21; TRNAV21 Asterisk 615307 TRANSFER RNA VALINE 12; TRNAV12 Asterisk 615308 TRANSFER RNA VALINE 17; TRNAV17 Asterisk 615309 TRANSFER RNA THREONINE 15; TRNAT15 Asterisk 615310 TRANSFER RNA VALINE (AAC) 1-1; TRV-AAC1-1 TRANSFER RNA VALINE 24; TRNAV24 Number Sign 615311 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17; BMND17 BONE MINERAL DENSITY, LOW, SUSCEPTIBILITY TO Percent 615312 ALBINISM, OCULOCUTANEOUS, TYPE V; OCA5 Asterisk 615313 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 7; B3GNT7 Number Sign 615314 CRANIOSYNOSTOSIS 3; CRS3 Asterisk 615315 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 6; B3GNT6 Asterisk 615316 IBA57, S. CEREVISIAE, HOMOLOG OF; IBA57 CHROMOSOME 1 OPEN READING FRAME 69; C1ORF69 Asterisk 615317 IRON-SULFUR CLUSTER ASSEMBLY 2, S. CEREVISIAE, HOMOLOG OF; ISCA2 Asterisk 615318 TRANSMEMBRANE PROTEIN 14C; TMEM14C Asterisk 615319 IMPACT RWD DOMAIN PROTEIN; IMPACT IMPRINTED AND ANCIENT GENE, MOUSE, HOMOLOG OF;; RWD DOMAIN-CONTAINING PROTEIN 5; RWDD5 Asterisk 615320 GDP-MANNOSE PYROPHOSPHORYLASE B; GMPPB GDP-MANNOSE PYROPHOSPHORYLASE, BETA SUBUNIT;; GMPP-BETA Asterisk 615321 CHLORIDE INTRACELLULAR CHANNEL 6; CLIC6 CLIC1-LIKE; CLIC1L;; PARCHORIN, RABBIT, HOMOLOG OF Asterisk 615322 NEGATIVE REGULATOR OF REACTIVE OXYGEN SPECIES; NRROS LEUCINE-RICH REPEAT-CONTAINING PROTEIN 33; LRRC33 Asterisk 615323 JOSEPHIN DOMAIN-CONTAINING PROTEIN 1; JOSD1 KIAA0063 Asterisk 615324 JOSEPHIN DOMAIN-CONTAINING PROTEIN 2; JOSD2 Caret 615325 MOVED TO 601419 Asterisk 615326 INTERFERON, KAPPA; IFNK Number Sign 615327 DOWLING-DEGOS DISEASE 2; DDD2 Number Sign 615328 SHAHEEN SYNDROME; SHNS Asterisk 615329 EXOCYST COMPLEX COMPONENT 2; EXOC2 SEC5-LIKE 1; SEC5L1;; SEC5 Number Sign 615330 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3 Asterisk 615331 INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN 1; IRF2BP1 IRF2-BINDING PROTEIN 1 Asterisk 615332 INTERFERON REGULATORY FACTOR 2-BINDING PROTEIN 2; IRF2BP2 IRF2-BINDING PROTEIN 2 Asterisk 615333 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 5; B3GNT5 LACTOTRIAOSYLCERAMIDE SYNTHASE;; LC3 SYNTHASE Asterisk 615334 CERAMIDE SYNTHASE 4; CERS4 LAG1, S. CEREVISIAE, HOMOLOG OF, 4; LASS4;; TRAM HOMOLOG 1; TRH1 Asterisk 615335 CERAMIDE SYNTHASE 5; CERS5 LAG1, S. CEREVISIAE, HOMOLOG OF, 5; LASS5;; TRAM HOMOLOG 4; TRH4 Asterisk 615336 CERAMIDE SYNTHASE 6; CERS6 LAG1, S. CEREVISIAE, HOMOLOG OF, 6; LASS6 Asterisk 615337 BETA-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE-LIKE 1; B3GNTL1 Number Sign 615338 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16 Asterisk 615339 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 15; DNAJC15 METHYLATION-CONTROLLED J PROTEIN; MCJ Asterisk 615340 KELCH-LIKE 40: KLHL40 SARCOSYNAPSIN; SYRP;; KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 5; KBTBD5 Asterisk 615341 CYTOCHROME P450, FAMILY 4, SUBFAMILY A, POLYPEPTIDE 22; CYP4A22 Number Sign 615342 PULMONARY HYPERTENSION, PRIMARY, 2; PPH2 Number Sign 615343 PULMONARY HYPERTENSION, PRIMARY, 3; PPH3 Number Sign 615344 PULMONARY HYPERTENSION, PRIMARY, 4; PPH4 Asterisk 615345 MYOMAKER; MYMK TRANSMEMBRANE PROTEIN 8C; TMEM8C Number Sign 615346 PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2 Asterisk 615347 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 2B; ATAD2B KIAA1240 Number Sign 615348 NEMALINE MYOPATHY 8; NEM8 Number Sign 615349 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, FORMERLY; EDSP2, FORMERLY Number Sign 615350 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GMPPB-RELATED Number Sign 615351 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED Number Sign 615352 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 19; LGMDR19;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T; LGMD2T;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED Asterisk 615353 COILED-COIL DOMAIN-CONTAINING PROTEIN 28A; CCDC28A CHROMOSOME 6 OPEN READING FRAME 80; C6ORF80 CCDC28A/NUP98 FUSION GENE, INCLUDED Asterisk 615354 LIGAND-DEPENDENT NUCLEAR RECEPTOR-INTERACTING FACTOR 1; LRIF1 RECEPTOR-INTERACTING FACTOR 1; RIF1 Number Sign 615355 NOONAN SYNDROME 8; NS8 Number Sign 615356 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18; LGMDR18 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S; LGMD2S Asterisk 615357 BETA-1,3-GALACTOSYLTRANSFERASE 8; B3GNT8 BGALT15;; BETA-1,3-GALACTOSYLTRANSFERASE 7, FORMERLY; B3GALT7, FORMERLY Asterisk 615358 ADENYLATE KINASE 9; AK9 Asterisk 615359 MISSING OOCYTE/MEIOSIS REGULATOR, DROSOPHILA, HOMOLOG OF; MIOS Number Sign 615360 LEBER CONGENITAL AMAUROSIS 17; LCA17 Number Sign 615361 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2 Number Sign 615362 CEROID LIPOFUSCINOSIS, NEURONAL, 13; CLN13 CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE Number Sign 615363 ESTROGEN RESISTANCE; ESTRR ESTROGEN INSENSITIVITY Asterisk 615364 ADENYLATE KINASE 7; AK7 Asterisk 615365 ADENYLATE KINASE 8; AK8 Asterisk 615366 NUCLEOLAR PROTEIN 11; NOL11 Asterisk 615367 N-TERMINAL ASPARAGINE AMIDASE; NTAN1 N-TERMINAL ASPARAGINE AMIDOHYDROLASE Number Sign 615368 LETHAL CONGENITAL CONTRACTURE SYNDROME 5; LCCS5 MYOPATHY, CENTRONUCLEAR, LETHAL, AUTOSOMAL RECESSIVE Number Sign 615369 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC Asterisk 615370 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 6; ANKS6 PKDR1;; SAMCYSTIN Number Sign 615371 PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO; PHN Asterisk 615372 MICRO RNA 1260B; MIR1260B miRNA1260B;; MIRN1260B Number Sign 615373 LEFT VENTRICULAR NONCOMPACTION 8; LVNC8 CARDIOMYOPATHY, DILATED, 1LL, INCLUDED; CMD1LL, INCLUDED Number Sign 615374 CONE-ROD DYSTROPHY 18; CORD18 Asterisk 615375 INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 1-BINDING PROTEIN 1; IRAK1BP1 IRAK1-BINDING PROTEIN 1;; SIGNALING MOLECULE THAT ASSOCIATES WITH PELLE-LIKE KINASE; SIMPL Number Sign 615376 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C; CMTRIC CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C; RI-CMTC Number Sign 615377 ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13 Number Sign 615378 ATRIAL FIBRILLATION, FAMILIAL, 14; ATFB14 Asterisk 615379 MICRO RNA 650; MIR650 miRNA650 Asterisk 615380 APOPTOSIS-RESISTANT E3 UBIQUITIN PROTEIN LIGASE 1; AREL1 KIAA0317 Number Sign 615381 MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME; MDPL Number Sign 615382 NEPHRONOPHTHISIS 16; NPHP16 Asterisk 615383 FIDGETIN-LIKE PROTEIN 1; FIGNL1 Asterisk 615384 SCAFFOLDING PROTEIN INVOLVED IN DNA REPAIR; SPIDR KIAA0146 Asterisk 615385 MICRO RNA 485; MIR485 miRNA485 Number Sign 615386 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14 CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1; SPARCA1 Number Sign 615387 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY TCR-ALPHA/BETA DEFICIENCY;; IMMUNODEFICIENCY 7; IMD7 Asterisk 615388 ADENOSINE DEAMINASE, tRNA-SPECIFIC, 2; ADAT2 TAD2, S. CEREVISIAE, HOMOLOG OF; TAD2 Asterisk 615389 ISOPENTENYL-DIPHOSPHATE DELTA ISOMERASE 2; IDI2 IPPI2 Percent 615390 VESICOURETERAL REFLUX 7; VUR7 Asterisk 615391 IDI2 ANTISENSE RNA 1, NONCODING; IDI2AS1 Asterisk 615392 SCM-LIKE PROTEIN WITH 4 MBT DOMAINS 2; SFMBT2 KIAA1617 Asterisk 615393 MITOCHONDRIAL TRANSCRIPTION TERMINATION FACTOR 4; MTERF4 MTERF DOMAIN-CONTAINING PROTEIN 2; MTERFD2 Asterisk 615394 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 4; NSUN4 NOP2/SUN DOMAIN FAMILY, MEMBER 4 Number Sign 615395 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16; COXPD16 Number Sign 615396 LEFT VENTRICULAR NONCOMPACTION 10; LVNC10 CARDIOMYOPATHY, DILATED, 1MM, INCLUDED; CMD1MM, INCLUDED Number Sign 615397 MECKEL SYNDROME, TYPE 11; MKS11 Number Sign 615398 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3; MCAHS3 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7; GPIBD7 Number Sign 615399 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2; PNH2 Number Sign 615400 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5 CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5; FCMTE5 Number Sign 615401 IMMUNODEFICIENCY 8; IMD8 Number Sign 615402 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 Asterisk 615403 THO COMPLEX, SUBUNIT 6; THOC6 FUNCTIONAL SPLICEOSOME-ASSOCIATED PROTEIN, 35-KD; FSAP35 Asterisk 615404 TRANSMEMBRANE 4 L6 FAMILY, MEMBER 20; TM4SF20 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 20 Asterisk 615405 GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-12; GNG12 Asterisk 615406 GNG12 ANTISENSE RNA 1, NONCODING; GNG12AS1 LONG NONCODING RNA GNG12AS1;; lncRNA GNG12AS1 Asterisk 615407 ADP RIBOSYLATION FACTOR-LIKE 2-BINDING PROTEIN; ARL2BP ARL2-BINDING PROTEIN;; BINDER OF ARL2; BART Asterisk 615408 ARMADILLO REPEAT-CONTAINING PROTEIN 4; ARMC4 Asterisk 615409 SPERMATOGENESIS-ASSOCIATED PROTEIN 33; SPATA33 CHROMOSOME 16 OPEN READING FRAME 55; C16ORF55 Asterisk 615410 MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN 2; MRAP2 MC2R ACCESSORY PROTEIN 2;; CHROMOSOME 6 OPEN READING FRAME 117; C6ORF117 Number Sign 615411 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3 Number Sign 615412 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4 Number Sign 615413 SPERMATOGENIC FAILURE 12; SPGF12 Number Sign 615414 MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11 Number Sign 615415 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2 Asterisk 615416 BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A9; BHLHA9 BASIC HELIX-LOOP-HELIX FACTOR, CLASS F, 42; BHLHF42;; FINGERIN Asterisk 615417 BET1-LIKE PROTEIN; BET1L GOLGI SNARE, 15-KD; GS15 Number Sign 615418 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B Number Sign 615419 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 IHPRF Number Sign 615420 MYOPIA 22, AUTOSOMAL DOMINANT; MYP22 Asterisk 615421 COILED-COIL DOMAIN CONTAINING 111; CCDC111 Number Sign 615422 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 MULTISYSTEM PROTEINOPATHY 2; MSP2 Asterisk 615423 tRNA METHYLTRANSFERASE 10, S. CEREVISIAE, HOMOLOG OF, C; TRMT10C RNA (GUANINE-9-)METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; RG9MTD1;; MITOCHONDRIAL RIBONUCLEASE P PROTEIN 1; MRPP1 Number Sign 615424 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 MULTISYSTEM PROTEINOPATHY 3; MSP3 Number Sign 615425 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2 Number Sign 615426 AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20 Asterisk 615427 ELMO/CED12 DOMAIN-CONTAINING PROTEIN 3; ELMOD3 RNA-BINDING MOTIF- AND ELMO DOMAIN-CONTAINING PROTEIN 1; RBED1 Asterisk 615428 DEAD BOX POLYPEPTIDE 47; DDX47 Number Sign 615429 DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88 Asterisk 615430 TRANSMEMBRANE PROTEIN 241; TMEM241 CHROMOSOME 18 OPEN READING FRAME 45; C18ORF45 Number Sign 615431 MYOPIA 23, AUTOSOMAL RECESSIVE; MYP23 Number Sign 615432 SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5 Number Sign 615433 CHROMOSOME 3q13.31 DELETION SYNDROME Number Sign 615434 RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS; RP82 Asterisk 615435 ENDOPLASMIC RETICULUM OXIDOREDUCTIN 1-LIKE; ERO1L ERO1-LIKE, ALPHA; ERO1LA;; ERO1, S. CEREVISIAE, HOMOLOG OF, ALPHA;; ERO1-ALPHA Number Sign 615436 AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8 Asterisk 615437 ENDOPLASMIC RETICULUM OXIDOREDUCTIN 1-LIKE, BETA; ERO1LB ERO1-LIKE, BETA;; ERO1, S. CEREVISIAE, HOMOLOG OF, BETA;; ERO1-BETA Number Sign 615438 INFANTILE LIVER FAILURE SYNDROME 1; ILFS1 Number Sign 615439 MACULAR DEGENERATION, AGE-RELATED, 13; ARMD13 Number Sign 615440 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17 Number Sign 615441 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5 Asterisk 615442 T-CELL RECEPTOR ALPHA CHAIN VARIABLE GENE CLUSTER; TRAV@ Asterisk 615443 T-CELL RECEPTOR ALPHA CHAIN JOINING GENE CLUSTER; TRAJ@ Number Sign 615444 CILIARY DYSKINESIA, PRIMARY, 22; CILD22 CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS Asterisk 615445 T-CELL RECEPTOR BETA CHAIN CONSTANT REGION 2; TRBC2 Asterisk 615446 T-CELL RECEPTOR BETA CHAIN VARIABLE GENE CLUSTER; TRBV@ Asterisk 615447 T-CELL RECEPTOR BETA CHAIN DIVERSITY GENE 1; TRBD1 Asterisk 615448 T-CELL RECEPTOR BETA CHAIN DIVERSITY GENE 2; TRBD2 Asterisk 615449 T-CELL RECEPTOR BETA CHAIN JOINING GENE CLUSTER; TRBJ@ Asterisk 615450 T-CELL RECEPTOR GAMMA CHAIN CONSTANT REGION 2; TRGC2 Number Sign 615451 CILIARY DYSKINESIA, PRIMARY, 23; CILD23 CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS Asterisk 615452 PROSTATE CANCER-ASSOCIATED NONCODING RNA 1; PRNCR1 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 8; PCAT8;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 4; CARLO3;; lncRNA CARLO3 Number Sign 615453 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6 Asterisk 615454 T-CELL RECEPTOR GAMMA CHAIN VARIABLE GENE CLUSTER; TRGV@ Asterisk 615455 T-CELL RECEPTOR GAMMA CHAIN JOINING GENE CLUSTER; TRGJ@ Asterisk 615456 ELMO/CED12 DOMAIN-CONTAINING PROTEIN 1; ELMOD1 Number Sign 615457 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18 OBESITY, SUSCEPTIBILITY TO Number Sign 615458 MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS; MMCAT Asterisk 615459 T-CELL RECEPTOR DELTA CHAIN VARIABLE GENE CLUSTER; TRDV@ Asterisk 615460 T-CELL RECEPTOR DELTA CHAIN DIVERSITY GENE CLUSTER; TRDD@ Asterisk 615461 T-CELL RECEPTOR DELTA CHAIN JOINING GENE CLUSTER; TRDJ@ Asterisk 615462 WD REPEAT-CONTAINING PROTEIN 60; WDR60 Asterisk 615463 SEIZURE THRESHOLD 2, MOUSE, HOMOLOG OF; SZT2 KIAA0467 Asterisk 615464 DEAD BOX POLYPEPTIDE 59; DDX59 Number Sign 615465 HARTSFIELD SYNDROME; HRTFDS HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE Asterisk 615466 MESODERM DEVELOPMENT CANDIDATE 1; MESDC1 Asterisk 615467 GLYCOLIPID TRANSFER PROTEIN DOMAIN-CONTAINING PROTEIN 1; GLTPD1 GLTP DOMAIN-CONTAINING PROTEIN 1;; CERAMIDE-1-PHOSPHATE TRANSFER PROTEIN; CPTP Number Sign 615468 IMMUNODEFICIENCY 12; IMD12 Asterisk 615469 MICRO RNA 574; MIR574 miRNA574;; MIR574-5p MICRO RNA 574-3p, INCLUDED; MIR574-3p, INCLUDED Asterisk 615470 CENTROSOMAL PROTEIN, 89-KD; CEP89 COILED-COIL DOMAIN-CONTAINING PROTEIN 123; CCDC123;; CENTROSOMAL PROTEIN 123; CEP123;; FLJ14640 Number Sign 615471 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13 Asterisk 615472 COATOMER PROTEIN COMPLEX, SUBUNIT ZETA-1; COPZ1 COPZ Number Sign 615473 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17 Number Sign 615474 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA Asterisk 615475 DEAH BOX POLYPEPTIDE 34; DHX34 KIAA0134 Number Sign 615476 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18 Asterisk 615477 NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 1; NYAP1 Asterisk 615478 NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 2; NYAP2 KIAA1486 Asterisk 615479 MYOSIN XVI; MYO16 NEURONAL TYROSINE-PHOSPHORYLATED PHOSPHOINOSITIDE 3-KINASE ADAPTOR 3; NYAP3;; KIAA0865;; MYR8 Asterisk 615480 BLADDER CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; BLACAT1 LONG INTERGENIC NONCODING RNA 912; LINCOO912;; UPREGULATED IN BLADDER CANCER 1, LONG INTERGENIC NONCODING RNA;; lincUBC1;; lincRNA UBC1 Number Sign 615481 CILIARY DYSKINESIA, PRIMARY, 24; CILD24 CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS Number Sign 615482 CILIARY DYSKINESIA, PRIMARY, 25; CILD25 CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS Number Sign 615483 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5 Asterisk 615484 PENTATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 2; PTCD2 Number Sign 615485 BAINBRIDGE-ROPERS SYNDROME; BRPS Number Sign 615486 INTERSTITIAL LUNG AND LIVER DISEASE; ILLD PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND;; INFANTILE LIVER FAILURE SYNDROME 2, FORMERLY; ILFS2, FORMERLY Asterisk 615487 SMALL NUCLEOLAR RNA, H/ACA BOX, 2C; SNORA2C SMALL NUCLEOLAR RNA, H/ACA BOX, 34; SNORA34;; ACA34 MICRO RNA 1291, INCLUDED; MIR1291, INCLUDED;; miRNA1291, INCLUDED Asterisk 615488 KAT8 REGULATORY NSL COMPLEX, SUBUNIT 2; KANSL2 NONSPECIFIC LETHAL 2, DROSOPHILA, HOMOLOG OF; NSL2;; CHROMOSOME 12 OPEN READING FRAME 41; C12ORF41 Number Sign 615489 MACULAR DEGENERATION, AGE-RELATED, 14; ARMD14 MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF, INCLUDED Number Sign 615490 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R; CMT2R CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R Number Sign 615491 SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE; SPG79 NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET; NDGOA Asterisk 615492 LONG INTERGENIC NONCODING RNA COX2 lincRNA COX2;; LONG NONCODING RNA COX2;; lncRNA COX2 Number Sign 615493 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37; MRT37 Asterisk 615494 CHROMOSOME 21 OPEN READING FRAME 59; C21ORF59 Asterisk 615495 GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA GDP-MANNOSE PYROPHOSPHORYLASE, ALPHA SUBUNIT;; GMPP-ALPHA Asterisk 615496 ATP/GTP-BINDING PROTEIN-LIKE 1; AGBL1 CYTOSOLIC CARBOXYPEPTIDASE 4; CCP4 Asterisk 615497 MITOCHONDRIAL ELONGATION FACTOR 1; MIEF1 SMCR7-LIKE PROTEIN; SMCR7L;; MITOCHONDRIAL DYNAMICS PROTEIN, 51-KD; MID51 Asterisk 615498 MITOCHONDRIAL ELONGATION FACTOR 2; MIEF2 SMITH-MAGENIS SYNDROME CHROMOSOME REGION, CANDIDATE GENE 7; SMCR7;; MITOCHONDRIAL DYNAMICS PROTEIN, 49-KD; MID49 Asterisk 615499 PYRUVATE DEHYDROGENASE PHOSPHATASE CATALYTIC SUBUNIT 2; PDP2 KIAA1348 Number Sign 615500 CILIARY DYSKINESIA, PRIMARY, 26; CILD26 CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS Number Sign 615501 MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC Number Sign 615502 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Number Sign 615503 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI; SRPS6 Number Sign 615504 CILIARY DYSKINESIA, PRIMARY, 27; CILD27 CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS Number Sign 615505 CILIARY DYSKINESIA, PRIMARY, 28; CILD28 CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS Number Sign 615506 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5 Asterisk 615507 NISCHARIN; NISCH IMIDAZOLINE RECEPTOR ANTISERA-SELECTED; IRAS;; KIAA0975 Number Sign 615508 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE; EPKHE SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME;; SAM SYNDROME Asterisk 615509 MICRO RNA 675; MIR675 miRNA675 Number Sign 615510 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR Number Sign 615511 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD ADENOSINE MONOPHOSPHATE DEAMINASE-1 DEFICIENCY, MYOPATHY DUE TO;; AMPD1 DEFICIENCY;; MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO Number Sign 615512 TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID Number Sign 615513 IMMUNODEFICIENCY 14; IMD14 ACTIVATED PI3K-DELTA SYNDROME; APDS;; p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY; PASLI Asterisk 615514 CYCLIN-DEPENDENT KINASE 12; CDK12 CDC2-RELATED KINASE WITH AN ARGININE/SERINE-RICH DOMAIN; CRKRS;; CDC2-RELATED PROTEIN KINASE 7; CRK7;; KIAA0904 Number Sign 615515 AMYOTROPHIC LATERAL SCLEROSIS 19; ALS19 Number Sign 615516 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 Number Sign 615517 HEMOCHROMATOSIS, TYPE 5; HFE5 IRON OVERLOAD, AUTOSOMAL DOMINANT Number Sign 615518 IMMUNODEFICIENCY 13; IMD13 IDIOPATHIC CD4 LYMPHOPENIA; ICL Asterisk 615519 TOM1-LIKE 2; TOM1L2 Asterisk 615520 MICRO RNA 297; MIR297 miRNA297 Asterisk 615521 SH3 AND CYSTEINE-RICH DOMAINS 3; STAC3 Number Sign 615522 COLE DISEASE; COLED GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION Number Sign 615523 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8 Number Sign 615524 MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS Asterisk 615525 COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-1; COPG1 COP, GAMMA-1 Asterisk 615526 COATOMER PROTEIN COMPLEX, SUBUNIT ZETA-2; COPZ2 COP, ZETA-2 Number Sign 615527 CANDIDIASIS, FAMILIAL, 8; CANDF8 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE Number Sign 615528 PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A PARK19, FORMERLY PARKINSON DISEASE 19B, EARLY-ONSET, INCLUDED; PARK19B, INCLUDED Number Sign 615529 CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO; CRS5 Number Sign 615530 PARKINSON DISEASE 20, EARLY-ONSET; PARK20 Asterisk 615531 TRANSMEMBRANE PROTEIN 79; TMEM79 MATTRIN, MOUSE, HOMOLOG OF; MATT Asterisk 615532 ENDOPLASMIC RETICULUM MEMBRANE-ASSOCIATED RNA DEGRADATION PROTEIN; ERMARD CHROMOSOME 6 OPEN READING FRAME 70; C6ORF70 Asterisk 615533 TRANSMEMBRANE PROTEIN 126B; TMEM126B Asterisk 615534 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE DOMAIN-CONTAINING PROTEIN 1; TIMMDC1 TIMM DOMAIN CONTAINING-PROTEIN 1;; CHROMOSOME 3 OPEN READING FRAME 1; C3ORF1 Asterisk 615535 SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 4; SYNE4 NUCLEAR ENVELOPE SPECTRIN REPEAT PROTEIN 4; NESP4;; NESPRIN 4;; CHROMOSOME 19 OPEN READING FRAME 46; C19ORF46 Asterisk 615536 CHROMOSOME 2 OPEN READING FRAME 80; C2ORF80 GONAD DEVELOPMENT-ASSOCIATED GENE 1; GONDA1 Number Sign 615537 RETICULATE ACROPIGMENTATION OF KITAMURA; RAK ACROPIGMENTATIO RETICULARIS;; RETICULATE PIGMENTATION OF KITAMURA; RPK;; KITAMURA RETICULATE ACROPIGMENTATION Number Sign 615538 CHROMOSOME 22q13 DUPLICATION SYNDROME Number Sign 615539 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2 Number Sign 615540 DEAFNESS, AUTOSOMAL RECESSIVE 76; DFNB76 Number Sign 615541 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39 Number Sign 615542 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD Asterisk 615543 ACTIN-RELATED PROTEIN 2/3 COMPLEX INHIBITOR; ARPIN CHROMOSOME 15 OPEN READING FRAME 38; C15ORF38 Number Sign 615544 PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6 Number Sign 615545 LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3; ALL3 Number Sign 615546 VAN MALDERGEM SYNDROME 2; VMLDS2 Number Sign 615547 SCHAAF-YANG SYNDROME; SHFYNG PRADER-WILLI-LIKE SYNDROME; PWLS Number Sign 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7 HSAN VII;; INSENSITIVITY TO PAIN, CONGENITAL, WITH GASTROINTESTINAL DYSFUNCTION AND HYPERHIDROSIS Asterisk 615549 ARMADILLO REPEAT-CONTAINING PROTEIN 5; ARMC5 Number Sign 615550 DIAMOND-BLACKFAN ANEMIA 12; DBA12 Number Sign 615551 EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 Number Sign 615552 EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3 Number Sign 615553 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES; AMRS Number Sign 615554 MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB Number Sign 615555 HYPERPROLACTINEMIA; HPRL Asterisk 615556 ALPHA-TUBULIN ACETYLTRANSFERASE 1; ATAT1 TUBULIN, ALPHA, ACETYLTRANSFERASE 1;; ALPHA-TAT1;; MEC17, C. ELEGANS, HOMOLOG OF; MEC17;; CHROMOSOME 6 OPEN READING FRAME 134; C6ORF134 Number Sign 615557 MELIOIDOSIS, SUSCEPTIBILITY TO MELIOIDOSIS, RESISTANCE TO, INCLUDED Number Sign 615558 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1 HYPOBETALIPOPROTEINEMIA, FAMILIAL; FHBL;; ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA;; HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4, INCLUDED; LDLCQ4, INCLUDED Number Sign 615559 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 IMMUNODEFICIENCY, COMMON VARIABLE, 9, FORMERLY; CVID9, FORMERLY Number Sign 615560 OTOFACIOCERVICAL SYNDROME 2; OTFCS2 OFC2 Number Sign 615561 COMPLEMENT FACTOR B DEFICIENCY; CFBD Asterisk 615562 SPERM-ASSOCIATED ANTIGEN 5; SPAG5 MITOTIC SPINDLE-ASSOCIATED PROTEIN, 126-KD; MAP126;; ASTRIN Asterisk 615563 NUCLEAR RECEPTOR-BINDING PROTEIN 2; NRBP2 Asterisk 615564 SIDEROFLEXIN 4; SFXN4 Number Sign 615565 RETINITIS PIGMENTOSA 67; RP67 Asterisk 615566 BTB/POZ DOMAIN-CONTAINING PROTEIN 3; BTBD3 KIAA0952 Asterisk 615567 COENZYME Q8B; COQ8B AARF DOMAIN-CONTAINING KINASE 4; ADCK4 Asterisk 615568 SWI/SNF COMPLEX ANTAGONIST ASSOCIATED WITH PROSTATE CANCER 1, NONCODING; SCHLAP1 SECOND CHROMOSOME LOCUS ASSOCIATED WITH PROSTATE 1;; PROSTATE CANCER-ASSOCIATED TRANSCRIPT 114; PCAT114;; LONG INTERGENIC NONCODING RNA 913; LINC00913;; lincRNA 913 Asterisk 615569 SIDEROFLEXIN 1; SFXN1 Asterisk 615570 SIDEROFLEXIN 2; SFXN2 Asterisk 615571 SIDEROFLEXIN 3; SFXN3 Asterisk 615572 SIDEROFLEXIN 5; SFXN5 Number Sign 615573 NEPHROTIC SYNDROME, TYPE 9; NPHS9 Number Sign 615574 ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD ASNS DEFICIENCY Number Sign 615575 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D HMN IID;; NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; DHMN2D;; SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL DOMINANT, CALF-PREDOMINANT Asterisk 615576 MICRO RNA 185; MIR185 miRNA185;; MIR185-5p MICRO RNA 185*, INCLUDED; MIR185*, INCLUDED;; MIR185-3p, INCLUDED Number Sign 615577 IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 IMMUNODEFICIENCY, COMMON VARIABLE, WITH CENTRAL ADRENAL INSUFFICIENCY;; DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY; DAVID Number Sign 615578 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18 Asterisk 615579 ATAXIN 7-LIKE 3B; ATXN7L3B Asterisk 615580 ZINC FINGER PROTEIN 528; ZNF528 KIAA1827 Asterisk 615581 DOUBLE HOMEOBOX 4-LIKE 9; DUX4L9 DUX4C Number Sign 615582 LOEYS-DIETZ SYNDROME 5; LDS5 RIENHOFF SYNDROME; RNHF Number Sign 615583 VERHEIJ SYNDROME; VRJS CHROMOSOME 8q24.3 DELETION SYNDROME Asterisk 615584 FAMILY WITH SEQUENCE SIMILARITY 111, MEMBER B; FAM111B Asterisk 615585 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 8; SLC38A8 Asterisk 615586 CENTROSOMAL PROTEIN, 19-KD; CEP19 CHROMOSOME 3 OPEN READING FRAME 34; C3ORF34 Asterisk 615587 NUCLEOPORIN, 188-KD; NUP188 KIAA1069 Asterisk 615588 SINGLE-PASS MEMBRANE PROTEIN WITH ASPARTATE-RICH TAIL 1; SMDT1 ESSENTIAL MCU REGULATOR; EMRE;; CHROMOSOME 22 OPEN READING FRAME 32; C22ORF32 Percent 615589 OTOSCLEROSIS 10; OTSC10 Number Sign 615590 ALZHEIMER DISEASE 18; AD18 ALZHEIMER DISEASE 18, LATE-ONSET Number Sign 615591 MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15 Number Sign 615592 IMMUNODEFICIENCY 15B; IMD15B Number Sign 615593 IMMUNODEFICIENCY 16; IMD16 OX40 DEFICIENCY Asterisk 615594 APELIN RECEPTOR EARLY ENDOGENOUS LIGAND; APELA ELABELA;; ELA;; TODDLER;; LOC100506013 Number Sign 615595 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19 Number Sign 615596 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw; CDG1W CDG Iw; CDGIw Number Sign 615597 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X CDG Ix; CDGIx Number Sign 615598 PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN Number Sign 615599 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40; MRT40 Asterisk 615600 ZINC FINGER PROTEIN 582; ZNF582 Asterisk 615601 GLUTAMATE DECARBOXYLASE-LIKE 1; GADL1 Number Sign 615602 MEMORY QUANTITATIVE TRAIT LOCUS; MEMRYQTL Asterisk 615603 CALCINEURIN-LIKE PHOSPHOESTERASE DOMAIN-CONTAINING PROTEIN 1; CPPED1 Number Sign 615604 L-FERRITIN DEFICIENCY; LFTD Number Sign 615605 FANCONI RENOTUBULAR SYNDROME 3; FRTS3 Asterisk 615606 BUTYROPHILIN-LIKE PROTEIN 8; BTNL8 BTN9.2 Number Sign 615607 IMMUNODEFICIENCY 17; IMD17 CD3-GAMMA DEFICIENCY;; SCID-LIKE IMMUNODEFICIENCY, T CELL-PARTIAL, B CELL-POSITIVE, NK CELL-POSITIVE Asterisk 615608 V-SET IMMUNOREGULATORY RECEPTOR; VSIR CHROMOSOME 10 OPEN READING FRAME 54; C10ORF54;; DEATH DOMAIN 1-ALPHA;; DD1-ALPHA;; B7H5;; V DOMAIN-CONTAINING IMMUNOGLOBULIN SUPPRESSOR OF T-CELL ACTIVATION; VISTA Asterisk 615609 SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 3; SIAH3 SEVEN IN ABSENTIA, DROSOPHILA, HOMOLOG OF, 3 Asterisk 615610 CADHERIN-RELATED FAMILY, MEMBER 3; CDHR3 Asterisk 615611 CASEINOLYTIC MITOCHONDRIAL MATRIX PEPTIDASE CHAPERONE SUBUNIT; CLPX ClpX, E. COLI, HOMOLOG OF Percent 615612 DEVELOPMENTAL DYSPLASIA OF THE HIP 2; DDH2 Asterisk 615613 HEPATOCELLULAR CARCINOMA-ASSOCIATED TRANSCRIPT 5; HCCAT5 HEPATOMA-ASSOCIATED GENE; HTA Asterisk 615614 MMS22-LIKE PROTEIN; MMS22L CHROMOSOME 6 OPEN READING FRAME 167; C6ORF167 Number Sign 615615 IMMUNODEFICIENCY 18; IMD18 CD3-EPSILON DEFICIENCY IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT, INCLUDED;; IMMUNODEFICIENCY 18, SCID VARIANT, INCLUDED Number Sign 615616 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; ARVC13 Number Sign 615617 IMMUNODEFICIENCY 19; IMD19 CD3-DELTA DEFICIENCY;; SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE;; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE Asterisk 615618 PROTEIN O-GLUCOSYLTRANSFERASE 1; POGLUT1 CAP10-LIKE PROTEIN, 46-KD; CLP46;; KTEL MOTIF-CONTAINING PROTEIN 1; KTELC1;; RUMI, DROSOPHILA, HOMOLOG OF; RUMI;; CHROMOSOME 3 OPEN READING FRAME 9; C3ORF9 NULL 615619 CHOLANGIOCARCINOMA, SUSCEPTIBILITY TO CHLC, SUSCEPTIBILITY TO Asterisk 615620 KAPTIN; KPTN ACTIN-ASSOCIATED PROTEIN 2E4; 2E4 Asterisk 615622 TNF- AND HNRNPL-RELATED IMMUNOREGULATORY LONG NONCODING RNA; THRIL TNF- AND HNRNPL-RELATED IMMUNOREGULATORY lncRNA;; LONG INTERGENIC NONCODING RNA 1992; LINC1992;; lincRNA 1992;; BRI3BP ANTISENSE RNA 1; BRI3BPAS1;; TCONS_00020260 Asterisk 615623 CYTOCHROME C OXIDASE ASSEMBLY FACTOR 7; COA7 RESPIRATORY CHAIN ASSEMBLY PROTEIN 1; RESA1;; SEL1 REPEAT-CONTAINING PROTEIN 1; SELRC1;; CHROMOSOME 1 OPEN READING FRAME 163; C1ORF163 Asterisk 615624 COLORECTAL NEOPLASIA DIFFERENTIALLY EXPRESSED GENE, NONCODING; CRNDE Number Sign 615625 SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE; SPG72 SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, INCLUDED Asterisk 615626 CHROMOSOME 15 OPEN READING FRAME 41; C15ORF41 Asterisk 615627 BRI3-BINDING PROTEIN; BRI3BP Asterisk 615628 BRAIN PROTEIN I3; BRI3 Number Sign 615629 DEAFNESS, AUTOSOMAL DOMINANT 56; DFNA56 Number Sign 615630 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10 Number Sign 615631 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B CDA, TYPE Ib Number Sign 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF; HSN1F HSN IF Number Sign 615633 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11 Asterisk 615634 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 6; CHCHD6 COILED-COIL-HELIX CRISTAE MORPHOLOGY PROTEIN 1; CHCM1;; MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 25-KD SUBUNIT; MIC25;; MICOS COMPLEX, 25-KD SUBUNIT Asterisk 615635 ZINC FINGER RNA-BINDING PROTEIN; ZFR Number Sign 615636 JOUBERT SYNDROME 21; JBTS21 Number Sign 615637 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41; MRT41 Asterisk 615638 NON-SMC CONDENSIN I COMPLEX SUBUNIT D2; NCAPD2 CHROMOSOME CONDENSATION-RELATED SMC-ASSOCIATED PROTEIN 1; CNAP1;; KIAA0159 Asterisk 615639 SMALL CAJAL BODY-SPECIFIC RNA 10; SCARNA10 snoRNA, U85 Asterisk 615640 SMALL CAJAL BODY-SPECIFIC RNA 5; SCARNA5 snoRNA, U87 Asterisk 615641 SMALL CAJAL BODY-SPECIFIC RNA 6; SCARNA6 snoRNA, U88 Asterisk 615642 SMALL CAJAL BODY-SPECIFIC RNA 12; SCARNA12 snoRNA, U89 Number Sign 615643 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6; NBIA6 Asterisk 615644 SMALL CAJAL BODY-SPECIFIC RNA 7; SCARNA7 snoRNA, U90 Asterisk 615645 SMALL CAJAL BODY-SPECIFIC RNA 17; SCARNA17 snoRNA, U91 Asterisk 615646 SMALL CAJAL BODY-SPECIFIC RNA 8; SCARNA8 snoRNA, U92 Asterisk 615647 TESTIS-EXPRESSED GENE 19; TEX19 Asterisk 615648 NLR FAMILY, CASPASE RECRUITMENT DOMAIN-CONTAINING 3; NLRC3 NLR FAMILY, CARD-CONTAINING 3;; CATERPILLER 16.2;; CLR16.2 Percent 615649 DEAFNESS, AUTOSOMAL DOMINANT 54; DFNA54 Asterisk 615650 REGULATOR OF G PROTEIN SIGNALING 22; RGS22 Number Sign 615651 LEUKOENCEPHALOPATHY WITH ATAXIA; LKPAT Asterisk 615652 ACYL-CoA THIOESTERASE 13; ACOT13 THIOESTERASE SUPERFAMILY MEMBER 2; THEM2 Asterisk 615653 THIOESTERASE SUPERFAMILY MEMBER 5; THEM5 ACYL-CoA THIOESTERASE 15; ACOT15 Percent 615654 DEAFNESS, AUTOSOMAL DOMINANT 58; DFNA58 Asterisk 615655 ZINC FINGER RANBP2-TYPE DOMAIN-CONTAINING PROTEIN 3; ZRANB3 ZINC FINGER RAN-BINDING DOMAIN-CONTAINING PROTEIN 3 Number Sign 615656 CHROMOSOME 15q11.2 DELETION SYNDROME Asterisk 615657 MICRO RNA 142; MIR142 miRNA142;; MIR142-5p MICRO RNA 142-3p, INCLUDED; MIR142-3p, INCLUDED Number Sign 615658 SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE; SPG57 Asterisk 615659 TRANSMEMBRANE PROTEIN 131; TMEM131 KIAA0257;; CC28 Asterisk 615660 RIBOSOMAL PROTEIN L10A; RPL10A CSA19 Asterisk 615661 PROGRAMMED CELL DEATH 2-LIKE PROTEIN; PDCD2L PDCD2-LIKE PROTEIN;; MGC13096 Asterisk 615662 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 12; SERPINB12 Number Sign 615663 WARBURG MICRO SYNDROME 4; WARBM4 Asterisk 615664 THYMOCYTE-EXPRESSED POSITIVE SELECTION-ASSOCIATED PROTEIN 1; TESPA1 KIAA0748 Number Sign 615665 JOUBERT SYNDROME 22; JBTS22 Asterisk 615666 KIAA1456 GENE; KIAA1456 tRNA METHYLTRANSFERASE 9-LIKE; TRM9L Asterisk 615667 ERCC6-LIKE 2; ERCC6L2 RAD26-LIKE; RAD26L HELICASE MUTATED IN BONE MARROW FAILURE, INCLUDED; HEBO, INCLUDED Number Sign 615668 CHROMOSOME 5q12 DELETION SYNDROME Asterisk 615669 EMBIGIN; EMB GP70 Number Sign 615670 SCHWANNOMATOSIS 2; SWNTS2 Asterisk 615671 SET DOMAIN-CONTAINING PROTEIN 3; SETD3 Asterisk 615672 MICRO RNA 497; MIR497 miRNA497;; MIRN497 Number Sign 615673 MYOPATHY WITH EXTRAPYRAMIDAL SIGNS; MPXPS Percent 615674 DOWLING-DEGOS DISEASE 3; DDD3 Asterisk 615675 MICRO RNA 301A; MIR301A miRNA301A;; MIR301 Asterisk 615676 TESTIS DEVELOPMENT-RELATED GENE 1, NONCODING; TDRG1 LONG INTERGENIC NONCODING RNA 532; LINC00532;; lincRNA 532 Asterisk 615677 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 9; SERPINA9 GERMINAL CENTER B-CELL-EXPRESSED TRANSCRIPT 1; GCET1;; CENTERIN Asterisk 615678 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN 2; SH3BGRL2 SH3BGR-LIKE PROTEIN 2 Asterisk 615679 SH3 DOMAIN-BINDING GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN 3; SH3BGRL3 SH3BGR-LIKE PROTEIN 3;; TNF INHIBITORY PROTEIN B1; TIPB1 Asterisk 615680 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 16; CARD16 CASPASE RECRUITMENT DOMAIN-ONLY PROTEIN; COP; COP1;; CARD-ONLY PROTEIN;; PSEUDO-INTERLEUKIN 1-BETA-CONVERTING ENZYME;; PSEUDO-IL1B-CONVERTING ENZYME;; PSEUDO-ICE Number Sign 615681 SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62 Asterisk 615682 SERPIN PEPTIDASE INHIBITOR, CLADE B (OVALBUMIN), MEMBER 11; SERPINB11 Number Sign 615683 SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE; SPG64 Asterisk 615684 HFM1, ATP-DEPENDENT DNA HELICASE, S. CEREVISIAE, HOMOLOG OF; HFM1 HELICASE FAMILY MEMBER 1;; MER3, S. CEREVISIAE, HOMOLOG OF; MER3 Number Sign 615685 SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE; SPG61 Number Sign 615686 SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63 Asterisk 615687 BECLIN 2; BECN2 BECLIN 1-LIKE PROTEIN 1; BECN1L1 Number Sign 615688 VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME; VAIHS POLYARTERITIS NODOSA, CHILDHOOD-ONSET; PAN;; ADENOSINE DEAMINASE 2 DEFICIENCY; DADA2 Asterisk 615689 ADHESION MOLECULE WITH Ig-LIKE DOMAIN 1; AMIGO1 AMPHOTERIN-INDUCED GENE AND OPEN READING FRAME; AMIGO;; ALIVIN 2; ALI2;; KIAA1163 Asterisk 615690 ADHESION MOLECULE WITH Ig-LIKE DOMAIN 2; AMIGO2 AMPHOTERIN-INDUCED GENE AND OPEN READING FRAME 2; AMIGO2;; ALIVIN 1; ALI1 Asterisk 615691 ADHESION MOLECULE WITH Ig-LIKE DOMAIN 3; AMIGO3 AMPHOTERIN-INDUCED GENE AND OPEN READING FRAME 3; AMIGO3;; ALIVIN 3; ALI3 Asterisk 615692 CHITINASE DOMAIN-CONTAINING PROTEIN 1; CHID1 STABILIN 1-INTERACTING CHITINASE-LIKE PROTEIN; SICLP Asterisk 615693 COLCA1 GENE; COLCA1 COLORECTAL CANCER-ASSOCIATED GENE 1 Asterisk 615694 COLCA2 GENE; COLCA2 COLORECTAL CANCER-ASSOCIATED GENE 2 Asterisk 615695 HEXAMETHYLENE BIS ACETAMIDE-INDUCIBLE PROTEIN 2; HEXIM2 Number Sign 615696 DOWLING-DEGOS DISEASE 4; DDD4 Percent 615697 EPILEPSY, FAMILIAL TEMPORAL LOBE, 6; ETL6 Asterisk 615698 PHOSPHOLIPASE D FAMILY, MEMBER 3; PLD3 HUK4 Asterisk 615699 CHROMOSOME 11 OPEN READING FRAME 95; C11ORF95 C11ORF95/MKL2 FUSION GENE, INCLUDED;; C11ORF95/RELA FUSION GENE, INCLUDED Asterisk 615700 PYRIN DOMAIN-CONTAINING PROTEIN 1; PYDC1 PAAD DOMAIN-ONLY PROTEIN 1; POP1;; PYRIN DOMAIN-ONLY PROTEIN 1;; PYC1;; ASC2 Asterisk 615701 PYRIN DOMAIN-CONTAINING PROTEIN 2; PYDC2 PYRIN DOMAIN-ONLY PROTEIN 2; POP2 Asterisk 615702 OLFACTORY RECEPTOR, FAMILY 5, SUBFAMILY AN, MEMBER 1; OR5AN1 OR11-244 Number Sign 615703 MORBID OBESITY AND SPERMATOGENIC FAILURE; MOSPGF Number Sign 615704 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP POIKILODERMA, HEREDITARY SCLEROSING, WITH TENDON AND PULMONARY INVOLVEMENT Number Sign 615705 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 SALIH ATAXIA Number Sign 615706 AURICULOCONDYLAR SYNDROME 3; ARCND3 Number Sign 615707 IMMUNODEFICIENCY 20; IMD20 Asterisk 615708 ZINC FINGER PROTEIN 451; ZNF451 COACTIVATOR FOR STEROID RECEPTORS; COASTER Number Sign 615709 SACRAL AGENESIS WITH VERTEBRAL ANOMALIES; SAVA Number Sign 615710 MITCHELL-RILEY SYNDROME; MTCHRS DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA NULL 615711 ALZHEIMER DISEASE 19; AD19 ALZHEIMER DISEASE 19, LATE-ONSET Asterisk 615712 OTU DEUBIQUITINASE WITH LINEAR LINKAGE SPECIFICITY; OTULIN FAMILY WITH SEQUENCE SIMILARITY 105, MEMBER B; FAM105B;; GUMBY, MOUSE, HOMOLOG OF; GUM Asterisk 615713 ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 8; ZMYND8 PROTEIN KINASE C-BINDING PROTEIN 1; PRKCBP1;; RACK7 Asterisk 615714 ZNRD1 ANTISENSE RNA 1; ZNRD1AS1 TCTEX4, MOUSE, HOMOLOG OF; TCTEX4;; TEX4; HTEX4 Number Sign 615715 BONE MARROW FAILURE SYNDROME 2; BMFS2 Number Sign 615716 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10; GPIBD10 Asterisk 615717 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 3; BPIFB3 RYA3 Asterisk 615718 BPI FOLD-CONTAINING PROTEIN, FAMILY B, MEMBER 4; BPIFB4 RY2G5 Asterisk 615719 TCL1 UPSTREAM NEURAL DIFFERENTIATION-ASSOCIATED RNA; TUNAR TCL1 UPSTREAM NEURON-ASSOCIATED RNA; TUNA;; LONG INTERGENIC NONCODING RNA 617; LINC00617;; lincRNA TUNAR Asterisk 615720 SOLUTE CARRIER FAMILY 7, MEMBER 14; SLC7A14 KIAA1613 Number Sign 615721 RENAL HYPODYSPLASIA/APLASIA 2; RHDA2 Number Sign 615722 BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS Number Sign 615723 PREMATURE OVARIAN FAILURE 8; POF8 Number Sign 615724 PREMATURE OVARIAN FAILURE 9; POF9 Number Sign 615725 RETINITIS PIGMENTOSA 68; RP68 Number Sign 615726 PACHYONYCHIA CONGENITA 3; PC3 Asterisk 615727 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, TWO DOMAINS, LONG CYTOPLASMIC TAIL, 5B; KIR2DL5B Number Sign 615728 PACHYONYCHIA CONGENITA 4; PC4 Asterisk 615729 STRAWBERRY NOTCH, DROSOPHILA, HOMOLOG OF, 2; SBNO2 KIAA0963 Asterisk 615730 DEDICATOR OF CYTOKINESIS 7; DOCK7 KIAA1771 Number Sign 615731 NEMALINE MYOPATHY 9; NEM9 Asterisk 615732 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 5; NSUN5 NOP2/SUN DOMAIN FAMILY, MEMBER 5;; WILLIAMS-BEUREN SYNDROME CRITICAL REGION 20; WBSCR20;; WBSCR20A Asterisk 615733 rRNA METHYLTRANSFERASE AND RIBOSOME MATURATION FACTOR BUD23; BUD23 METASTASIS-RELATED METHYLTRANSFERASE 1; MERM1;; WILLIAMS-BEUREN SYNDROME CRITICAL REGION 22; WBSCR22 Asterisk 615734 WD REPEAT-CONTAINING PROTEIN 47; WDR47 NEURONAL ENRICHED MAP-INTERACTING PROTEIN; NEMITIN;; KIAA0893 Number Sign 615735 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE; PPKNEFD Asterisk 615736 ENDOTHELIAL CELL SURFACE-EXPRESSED CHEMOTAXIS AND APOPTOSIS REGULATOR; ECSCR ENDOTHELIAL CELL-SPECIFIC MOLECULE 2; ECSM2;; APOPTOSIS REGULATOR THROUGH MODULATING IAP EXPRESSION; ARIA Asterisk 615737 FOLATE RECEPTOR 4; FOLR4 FOLATE RECEPTOR, DELTA;; FR-DELTA;; FOLBP3, MOUSE, HOMOLOG OF;; JUNO Asterisk 615738 VACUOLAR PROTEIN SORTING 51, S. CEREVISIAE, HOMOLOG OF; VPS51 ANOTHER NEW GENE 2; ANG2 Asterisk 615739 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1B; POU5F1B POU CLASS 5 HOMEOBOX 1B;; POU5F1P1;; OCT4PG1 Asterisk 615740 TBC1 DOMAIN FAMILY, MEMBER 5; TBC1D5 KIAA0210 Asterisk 615741 KIAA0141 GENE; KIAA0141 DEATH LIGAND SIGNAL ENHANCER; DELE Asterisk 615742 RGP1 RETROGRADE GOLGI TRANSPORT, S. CEREVISIAE, HOMOLOG OF; RGP1 KIAA0258 Asterisk 615743 SET DOMAIN-CONTAINING PROTEIN 5; SETD5 KIAA1757 Number Sign 615744 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19 Number Sign 615745 ATRIAL STANDSTILL 2; ATRST2 ATRIAL DILATION AND STANDSTILL;; CARDIOMYOPATHY, ATRIAL DILATED, WITH ATRIAL STANDSTILL Asterisk 615746 ZXD FAMILY ZINC FINGER PROTEIN C; ZXDC Asterisk 615747 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 8; CEACAM8 CD66B;; CGM6 Asterisk 615748 WASH COMPLEX, SUBUNIT 4; WASHC4 KIAA1033 GENE; KIAA1033;; WASH COMPLEX, SUBUNIT 7;; STRUMPELLIN AND WASH-INTERACTING PROTEIN; SWIP Number Sign 615749 ECULIZUMAB, POOR RESPONSE TO Number Sign 615750 MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA; MYMY6 Number Sign 615751 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD Number Sign 615752 POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR PMGR Asterisk 615753 POM121 TRANSMEMBRANE NUCLEOPORIN; POM121 POM121A;; KIAA0618 Asterisk 615754 POM121 TRANSMEMBRANE NUCLEOPORIN C; POM121C POM121-2 Asterisk 615755 FORKHEAD BOX R1; FOXR1 FORKHEAD BOX N5; FOXN5 Asterisk 615756 SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2-LIKE; SECISBP2L SECIS-BINDING PROTEIN 2-LIKE; SBP2L;; KIAA0256 Asterisk 615757 KIZUNA CENTROSOMAL PROTEIN; KIZ KIZUNA;; CHROMOSOME 20 OPEN READING FRAME 19; C20ORF19 Number Sign 615758 IMMUNODEFICIENCY 22; IMD22 Asterisk 615759 KINASE D-INTERACTING SUBSTRATE, 220-KD; KIDINS220 ANKYRIN REPEAT-RICH MEMBRANE-SPANNING PROTEIN; ARMS Number Sign 615760 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA Number Sign 615761 MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Asterisk 615762 GLUTAREDOXIN, CYSTEINE-RICH, 2; GRXCR2 Number Sign 615763 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5 Asterisk 615764 LONG STRESS-INDUCED NONCODING TRANSCRIPT 5; LSINCT5 Asterisk 615765 SOLUTE CARRIER FAMILY 16, MEMBER 11; SLC16A11 MONOCARBOXYLATE TRANSPORTER 11; MCT11 Asterisk 615766 MICROTUBULE CROSSLINKING FACTOR 1; MTCL1 KIAA0802 Number Sign 615767 IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 IL21 DEFICIENCY Number Sign 615768 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16 Asterisk 615769 FAMILY WITH SEQUENCE SIMILARITY 169, MEMBER A; FAM169A SOLUBLE LAMINA-ASSOCIATED PROTEIN, 75-KD; SLAP75;; KIAA0888 Number Sign 615770 ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15 Number Sign 615771 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6; CDCBM6 Asterisk 615772 LONG NONCODING RNA, DENDRITIC CELL lncRNA DC;; lncDC;; LOC615638 Asterisk 615773 ACN9, S. CEREVISIAE, HOMOLOG OF; ACN9 Number Sign 615774 OOCYTE MATURATION DEFECT 1; OOMD1 OOMD Asterisk 615775 SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 3; SYCE3 Asterisk 615776 CILIARY ROOTLET COILED-COIL PROTEIN; CROCC ROOTLETIN;; KIAA0445 Number Sign 615777 DESBUQUOIS DYSPLASIA 2; DBQD2 BARATELA-SCOTT SYNDROME Asterisk 615778 CLAUDIN 15; CLDN15 Number Sign 615779 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4 Number Sign 615780 RETINITIS PIGMENTOSA 69; RP69 Asterisk 615781 ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-3 SUBUNIT; AP1S3 ADAPTOR PROTEIN COMPLEX 1, SIGMA-1C SUBUNIT Asterisk 615782 CIRCADIAN-ASSOCIATED REPRESSOR OF TRANSCRIPTION; CIART COMPUTATIONALLY HIGHLIGHTED REPRESSOR OF NETWORK OSCILLATOR; CHRONO;; GENE MODEL 129; GM129 Asterisk 615783 N-ACETYLTRANSFERASE 16; NAT16 Asterisk 615784 GLUTATHIONE PEROXIDASE 7; GPX7 NONSELENOCYSTEINE-CONTAINING PHOSPHOLIPID HYDROPEROXIDE GLUTATHIONE PEROXIDASE; NPGPX Number Sign 615785 WHITE SPONGE NEVUS 2; WSN2 Asterisk 615786 NACC FAMILY, MEMBER 2, BEN AND BTB/POZ DOMAINS-CONTAINING; NACC2 REPRESSOR WITH BTB DOMAIN AND BEN DOMAIN; RBB Asterisk 615787 NAD KINASE 2, MITOCHONDRIAL; NADK2 CHROMOSOME 5 OPEN READING FRAME 33; C5ORF33 Asterisk 615788 NEDD4-BINDING PROTEIN 2-LIKE 2; N4BP2L2 PHOSPHONOFORMATE IMMUNO-ASSOCIATED PROTEIN 5; PFAAP5 Number Sign 615789 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES; SSMCF Asterisk 615790 AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1 Asterisk 615791 NUDIX HYDROLASE 18; NUDT18 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 18;; NUDIX MOTIF 18;; MutT HOMOLOG 3; MTH3 Asterisk 615792 NUDIX HYDROLASE 15; NUDT15 NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 15;; NUDIX MOTIF 15;; MutT HOMOLOG 2; MTH2 Asterisk 615793 ISTHMIN 1, ANGIOGENESIS INHIBITOR; ISM1 ISTHMIN; ISM Asterisk 615794 FIBRONECTIN TYPE III DOMAIN-CONTAINING PROTEIN 3A; FNDC3A KIAA0970;; HUMAN GENE EXPRESSED IN ODONTOBLASTS; HUGO Asterisk 615795 FIBROUS SHEATH-INTERACTING PROTEIN 1; FSIP1 HSD10 Asterisk 615796 FIBROUS SHEATH-INTERACTING PROTEIN 2; FSIP2 Asterisk 615797 HLA COMPLEX GROUP 9, NONCODING; HCG9 HCGIX;; HCGIX4 Asterisk 615798 CLAUDIN 6; CLDN6 Asterisk 615799 CLAUDIN 9; CLDN9 Asterisk 615800 FASCIN ACTIN-BUNDLING PROTEIN 3, TESTICULAR; FSCN3 FASCIN, TESTIS Asterisk 615801 HLA COMPLEX GROUP 8; HCG8 HCGVIII Number Sign 615802 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9; GPIBD9 Number Sign 615803 PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10 Asterisk 615804 UREIDOIMIDAZOLINE (2-OXO-4-HYDROXY-4-CARBOXY-5-) DECARBOXYLASE; URAD OHCU DECARBOXYLASE Asterisk 615805 URATE (HYDROXYISO-) HYDROLASE, PSEUDOGENE; URAHP HYDROXYISOURATE HYDROLASE; URAH Asterisk 615806 SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 4; SLC15A4 PEPTIDE/HISTIDINE TRANSPORTER 1; PHT1;; PEPTIDE TRANSPORTER 4; PTR4 Number Sign 615807 SECKEL SYNDROME 8; SCKL8 Asterisk 615808 TRANSLATION MACHINERY-ASSOCIATED 7, S. CEREVISIAE, HOMOLOG OF; TMA7 HSPC016 Number Sign 615809 PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9 Asterisk 615810 CHROMOSOME 11 OPEN READING FRAME 54; C11ORF54 PTD012 Asterisk 615811 PEPTIDYL-PROLYL ISOMERASE-LIKE 3; PPIL3 Number Sign 615812 ABDOMINAL OBESITY-METABOLIC SYNDROME 3; AOMS3 CENTRAL OBESITY, TYPE 2 DIABETES, HYPERTENSION, AND EARLY-ONSET CORONARY ARTERY DISEASE Asterisk 615813 FAMILY WITH SEQUENCE SIMILARITY 193, MEMBER B; FAM193B IRIZIO;; KIAA1931 Asterisk 615814 SERINE/THREONINE/TYROSINE-INTERACTING PROTEIN; STYX Asterisk 615815 SMOOTH MUSCLE- AND ENDOTHELIAL CELL-ENRICHED MIGRATION/DIFFERENTIATION-ASSOCIATED LONG NONCODING RNA; SENCR LONG NONCODING RNA 9; lncRNA9 Number Sign 615816 IMMUNODEFICIENCY 23; IMD23 IMMUNODEFICIENCY WITH HYPER IgE AND COGNITIVE IMPAIRMENT;; IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME; IVMS Number Sign 615817 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43; MRT43 Asterisk 615818 RIBOSOMAL RNA PROCESSING PROTEIN 8, METHYLTRANSFERASE, S. CEREVISIAE, HOMOLOG OF; RRP8 NUCLEOMETHYLIN; NML;; KIAA0409 Asterisk 615819 SULFOTRANSFERASE FAMILY 1A, CYTOSOLIC, PHENOL-PREFERRING, MEMBER 4; SULT1A4 Asterisk 615820 DDB1- AND CUL4-ASSOCIATED FACTOR 8; DCAF8 WD REPEAT-CONTAINING PROTEIN 42A; WDR42A Number Sign 615821 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS; DCWHKTA Asterisk 615822 SLX1 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT, S. CEREVISIAE, HOMOLOG OF, A; SLX1A GIY-YIG DOMAIN CONTAINING PROTEIN 1; GIYD1 Asterisk 615823 SLX1 STRUCTURE-SPECIFIC ENDONUCLEASE SUBUNIT, S. CEREVISIAE, HOMOLOG OF, B; SLX1B GIY-YIG DOMAIN CONTAINING PROTEIN 2; GIYD2 Number Sign 615824 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7 Asterisk 615825 SUSHI DOMAIN-CONTAINING PROTEIN 2; SUSD2 Asterisk 615826 SPERM-TAIL PG-RICH REPEAT-CONTAINING PROTEIN 1; STPG1 O(6)-METHYLGUANINE-INDUCED APOPTOSIS 2; MAPO2;; CHROMOSOME 1 OPEN READING FRAME 201; C1ORF201 Asterisk 615827 SUSHI DOMAIN-CONTAINING PROTEIN 4; SUSD4 Number Sign 615828 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; MRD24 Number Sign 615829 XIA-GIBBS SYNDROME MENTAL RETARDATION, AUTOSOMAL DOMINANT 25; MRD25 Number Sign 615830 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 CUSHING SYNDROME, ADRENAL, DUE TO PPNAD4;; CHROMOSOME 19p13 DUPLICATION SYNDROME ACTH-INDEPENDENT ADRENAL CUSHING SYNDROME, SOMATIC, INCLUDED Asterisk 615831 LYR MOTIF-CONTAINING PROTEIN 7; LYRM7 MZM1-LIKE; MZM1L Asterisk 615832 UBIQUITIN-CONJUGATING ENZYME E2Q FAMILY-LIKE PROTEIN 1; UBE2QL1 Number Sign 615833 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21 Number Sign 615834 MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26 Number Sign 615835 CHROMOSOME 16 INVERSION, 0.45-MB Asterisk 615836 SERINE/THREONINE PROTEIN KINASE 38-LIKE PROTEIN; STK38L STK38-LIKE PROTEIN;; NUCLEAR DBF2-RELATED PROTEIN 2; NDR2;; KIAA0965 Number Sign 615837 DEAFNESS, AUTOSOMAL RECESSIVE 101; DFNB101 Number Sign 615838 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8 Asterisk 615839 2,4-DIENOYL-CoA REDUCTASE 2, PEROXISOMAL; DECR2 PDCR Asterisk 615840 dCTP PYROPHOSPHATASE 1; DCTPP1 DEOXYCYTIDINE TRIPHOSPHATASE 1 Number Sign 615841 SPERMATOGENIC FAILURE 13; SPGF13 Number Sign 615842 SPERMATOGENIC FAILURE 14; SPGF14 Asterisk 615843 DELTA(4)-DESATURASE, SPHINGOLIPID, 1; DEGS1 DIHYDROCERAMIDE DESATURASE 1; DES1;; MEMBRANE LIPID DESATURASE; MLD Asterisk 615844 DIHYDROXYACETONE KINASE 2, S. CEREVISIAE, HOMOLOG OF; DAK DHA KINASE/FMN CYCLASE Asterisk 615845 MICRO RNA 190A; MIR190A Number Sign 615846 AICARDI-GOUTIERES SYNDROME 7; AGS7 Asterisk 615847 CENTROSOMAL PROTEIN, 83-KD; CEP83 COILED-COIL DOMAIN-CONTAINING PROTEIN 41; CCDC41;; RENAL CARCINOMA ANTIGEN NY-REN-58 Number Sign 615848 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10 Number Sign 615849 CULLER-JONES SYNDROME; CJS PALLISTER-HALL SYNDROME 2, FORMERLY; PHS2, FORMERLY Asterisk 615850 VACUOLAR PROTEIN SORTING 53, S. CEREVISIAE, HOMOLOG OF; VPS53 HCCS1 Number Sign 615851 PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E Asterisk 615852 RAS-ASSOCIATED PROTEIN RAB6B; RAB6B Asterisk 615853 POLYAMINE OXIDASE; PAOX PAO Asterisk 615854 SPERMINE OXIDASE; SMOX SMO;; CHROMOSOME 20 OPEN READING FRAME 16; C20ORF16;; POLYAMINE OXIDASE 1; PAO1;; PAOH Asterisk 615855 TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 1; TMTC1 Asterisk 615856 TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 2; TMTC2 Asterisk 615857 2-OXOGLUTARATE- AND IRON-DEPENDENT OXYGENASE DOMAIN-CONTAINING PROTEIN 1; OGFOD1 Asterisk 615858 ROUND SPERMATID BASIC PROTEIN 1; RSBN1 ROSBIN Number Sign 615859 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 Number Sign 615860 CONE-ROD DYSTROPHY 19; CORD19 Number Sign 615861 NEPHROTIC SYNDROME, TYPE 10; NPHS10 Number Sign 615862 NEPHRONOPHTHISIS 18; NPHP18 Number Sign 615863 DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR7 Asterisk 615864 CENTROSOMAL PROTEIN, 97-KD; CEP97 Asterisk 615865 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 4; NEURL4 KIAA1787 Number Sign 615866 COFFIN-SIRIS SYNDROME 9; CSS9 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27 Asterisk 615867 TBC1 DOMAIN FAMILY, MEMBER 32; TBC1D32 BROAD-MINDED, MOUSE, HOMOLOG OF; BROMI Asterisk 615868 SERINE PEPTIDASE INHIBITOR, KAZAL-TYPE, 6; SPINK6 Asterisk 615869 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 1; TNFAIP8L1 TNFAIP8-LIKE 1; TIPE1;; OXI-BETA Asterisk 615870 INTRAFLAGELLAR TRANSPORT 27, CHLAMYDOMONAS, HOMOLOG OF; IFT27 RAB-LIKE PROTEIN 4; RABL4;; BBS19 GENE Number Sign 615871 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24 Number Sign 615872 CILIARY DYSKINESIA, PRIMARY, 29; CILD29 CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS Number Sign 615873 HELSMOORTEL-VAN DER AA SYNDROME; HVDAS MENTAL RETARDATION, AUTOSOMAL DOMINANT 28; MRD28 Asterisk 615874 RIBOSOMAL L1 DOMAIN-CONTAINING PROTEIN 1; RSL1D1 CELLULAR SENESCENCE-INHIBITED GENE; CSIG;; PBK1 Asterisk 615875 RWD DOMAIN-CONTAINING PROTEIN 3; RWDD3 RWD-CONTAINING SUMOYLATION ENHANCER; RSUME Asterisk 615876 RADIAL SPOKE HEAD 3, CHLAMYDOMONAS, HOMOLOG OF; RSPH3 RADIAL SPOKEHEAD-LIKE 2; RSHL2;; RADIAL SPOKE PROTEIN 3; RSP3 Number Sign 615877 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS MICROPHTHALMIA AND/OR COLOBOMA WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA;; MICROPHTHALMIA, SYNDROMIC 14; MCOPS14 Number Sign 615878 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4 Number Sign 615879 TATTON-BROWN-RAHMAN SYNDROME; TBRS Asterisk 615880 RHO GTPase-ACTIVATING PROTEIN 39; ARHGAP39 VILSE;; KIAA1688 Number Sign 615881 PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS; TGQTL Asterisk 615882 RAB GTPase-ACTIVATING PROTEIN 1; RABGAP1 GTPase-ACTIVATING PROTEIN, CENTROSOME-ASSOCIATED; GAPCENA;; TBC1 DOMAIN FAMILY, MEMBER 11; TBC1D11 Number Sign 615883 MYOPATHY, TUBULAR AGGREGATE, 2; TAM2 Asterisk 615884 ADIPOCYTE PLASMA MEMBRANE-ASSOCIATED PROTEIN; APMAP CHROMOSOME 20 OPEN READING FRAME 3; C20ORF3;; BSCV Number Sign 615885 HYPOTRICHOSIS 12; HYPT12 Asterisk 615886 FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER G; FAM83G PROTEIN ASSOCIATED WITH SMAD1; PAWS1 Number Sign 615887 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5; AI2A5 Number Sign 615888 BLEEDING DISORDER, PLATELET-TYPE, 18; BDPLT18 Number Sign 615889 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP Asterisk 615890 DYNEIN, CYTOPLASMIC 1, LIGHT INTERMEDIATE CHAIN 1; DYNC1LI1 LIGHT INTERMEDIATE CHAIN 1; LIC1;; DYNEIN LIGHT CHAIN A Asterisk 615891 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 8, OPPOSITE STRAND; ZBTB8OS ARCHEASE; ARCH Percent 615892 OROFACIAL CLEFT 14; OFC14 Asterisk 615893 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 1B; NEURL1B NEURALIZED 2; NEUR2 Asterisk 615894 ZINC FINGER PROTEIN 407; ZNF407 Number Sign 615895 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY; PBMEI Number Sign 615896 HYPOTRICHOSIS 13; HYPT13 HYPOTRICHOSIS WITH WOOLLY HAIR Number Sign 615897 IMMUNODEFICIENCY 24; IMD24 Asterisk 615898 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 7; NDUFAF7 MITOCHONDRIAL DYSFUNCTION PROTEIN A, DICTYOSTELIUM, HOMOLOG OF; MIDA Asterisk 615899 OLFACTOMEDIN-LIKE 2A; OLFML2A Asterisk 615900 AATP/GTP-BINDING PROTEIN-LIKE 5; AGBL5 CYTOSOLIC CARBOXYPEPTIDASE 5; CCP5 Asterisk 615901 NONSPECIFIC CYTOTOXIC CELL RECEPTOR PROTEIN 1, ZEBRAFISH, HOMOLOG OF; NCCRP1 F-BOX ONLY PROTEIN 50; FBXO50 Asterisk 615902 PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B-DOUBLE PRIME, GAMMA; PPP2R3C G5PR Asterisk 615903 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 10; CHCHD10 Asterisk 615904 PEROXIDASIN, DROSOPHILA, HOMOLOG-LIKE; PXDNL POLYSOMAL RIBONUCLEASE 1, XENOPUS, HOMOLOG OF; PMR1;; VASCULAR PEROXIDASE 2; VPO2 Number Sign 615905 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA; EIEE25 Asterisk 615906 RING FINGER PROTEIN 219; RNF219 CHROMOSOME 13 OPEN READING FRAME 7; C13ORF7 Number Sign 615907 LYMPHATIC MALFORMATION 4; LMPHM4 LYMPHEDEMA, HEREDITARY, ID, FORMERLY; LMPH1D, FORMERLY Asterisk 615908 MICRO RNA 520C; MIR520C miRNA520C Number Sign 615909 DIAMOND-BLACKFAN ANEMIA 13; DBA13 Asterisk 615910 NAD(P)HX DEHYDRATASE; NAXD CARBOHYDRATE KINASE DOMAIN-CONTAINING PROTEIN; CARKD;; (S)-NADPH-HYDRATE DEHYDRATASE, ATP-DEPENDENT Number Sign 615911 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2 Asterisk 615912 GLUTATHIONE S-TRANSFERASE C-TERMINAL DOMAIN-CONTAINING PROTEIN; GSTCD Asterisk 615913 PEPTIDASE M20 DOMAIN-CONTAINING PROTEIN 2; PM20D2 AMINOACYLASE 1-LIKE 2; ACY1L2 Asterisk 615914 CYCLIN-DEPENDENT KINASE INHIBITOR 2A-INTERACTING PROTEIN; CDKN2AIP CDKN2A-INTERACTING PROTEIN;; COLLABORATOR OF ARF; CARF Asterisk 615915 ZONA PELLUCIDA-LIKE DOMAIN-CONTAINING PROTEIN 1; ZPLD1 Number Sign 615916 CARDIOMYOPATHY, DILATED, 1NN; CMD1NN Number Sign 615917 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20 Number Sign 615918 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21 Number Sign 615919 ATAXIA-TELANGIECTASIA-LIKE DISORDER 2; ATLD2 Asterisk 615920 PROLINE-RICH PROTEIN 11; PRR11 Asterisk 615921 PPARGC1- AND ESRR-INDUCED REGULATOR, MUSCLE, 1; PERM1 PGC1- AND ERR-INDUCED REGULATOR IN MUSCLE 1;; CHROMOSOME 1 OPEN READING FRAME 170; C1ORF170 Number Sign 615922 RETINITIS PIGMENTOSA 70; RP70 Number Sign 615923 EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE; ECDM Number Sign 615924 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD Number Sign 615925 GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GHDP Number Sign 615926 WEBB-DATTANI SYNDROME; WEDAS HYPOTHALAMO-PITUITARY-FRONTOTEMPORAL HYPOPLASIA WITH VISUAL AND RENAL ANOMALIES Asterisk 615927 FAMILY WITH SEQUENCE SIMILARITY 101, MEMBER A; FAM101A CFM2 Asterisk 615928 FAMILY WITH SEQUENCE SIMILARITY 101, MEMBER B; FAM101B CFM1 Asterisk 615929 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17; ANKRD17 GTAR Asterisk 615930 COLORECTAL ADENOCARCINOMA HYPERMETHYLATED GENE, NONCODING; CAHM LONG INTERGENIC NONCODING RNA 468; LINC00468 Asterisk 615931 PROLINE-RICH PROTEIN 16; PRR16 LARGEN Asterisk 615932 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 20; KCTD20 Asterisk 615933 BTB/POZ DOMAIN-CONTAINING PROTEIN 10; BTBD10 Number Sign 615934 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI Number Sign 615935 PANCREATIC AGENESIS 2; PAGEN2 PANCREATIC HYPOPLASIA, CONGENITAL 2 Asterisk 615936 RHO GTPase-ACTIVATING PROTEIN 42; ARHGAP42 GRAF3 Number Sign 615937 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2 Number Sign 615938 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 Asterisk 615939 PROTEIN TYROSINE PHOSPHATASE-LIKE (PROLINE INSTEAD OF CATALYTIC ARGININE), MEMBER B; PTPLB 3-HYDROXYACYL-CoA DEHYDRATASE 2; HACD2;; VERY LONG CHAIN-3-HYDROXYACYL-CoA DEHYDRATASE 2 Asterisk 615940 PROTEIN TYROSINE PHOSPHATASE-LIKE A DOMAIN-CONTAINING PROTEIN 1; PTPLAD1 BUTYRATE-INDUCED PROTEIN 1; BIND1;; 3-HYDROXYACYL-CoA DEHYDRATASE 3; HACD3;; VERY LONG CHAIN-3-HYDROXYACYL-CoA DEHYDRATASE 3 Asterisk 615941 PROTEIN TYROSINE PHOSPHATASE-LIKE A DOMAIN-CONTAINING PROTEIN 2; PTPLAD2 3-HYDROXYACYL-CoA DEHYDRATASE 4; HACD4;; VERY LONG CHAIN-3-HYDROXYACYL-CoA DEHYDRATASE 4 Number Sign 615942 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44 Asterisk 615943 MEMBRANE-ASSOCIATED GUANYLATE KINASE, WW AND PDZ DOMAINS-CONTAINING, 3; MAGI3 MEMBRANE-ASSOCIATED GUANYLATE KINASE WITH INVERTED STRUCTURE 3; MAGI3;; KIAA1634 Asterisk 615944 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 3; C2CD3 Number Sign 615945 SPINOCEREBELLAR ATAXIA 37; SCA37 Number Sign 615946 MYOPIA 24, AUTOSOMAL DOMINANT; MYP24 Number Sign 615947 HYPERLIPOPROTEINEMIA, TYPE ID Number Sign 615948 OROFACIODIGITAL SYNDROME XIV; OFD14 Asterisk 615949 TRANSMEMBRANE PROTEIN 98; TMEM98 Asterisk 615950 SPEG COMPLEX LOCUS; SPEG AORTIC PREFERENTIALLY EXPRESSED PROTEIN 1, INCLUDED; APEG1, INCLUDED;; STRIATED MUSCLE PREFERENTIALLY EXPRESSED PROTEIN, ALPHA, INCLUDED;; SPEG-ALPHA, INCLUDED;; STRIATED MUSCLE PREFERENTIALLY EXPRESSED PROTEIN, BETA, INCLUDED;; SPEG-BETA, INCLUDED;; BRAIN PREFERENTIALLY EXPRESSED PROTEIN, INCLUDED; BPEG, INCLUDED Asterisk 615951 ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 6; ZSWIM6 KIAA1577 Number Sign 615952 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 Number Sign 615953 KALLIKREIN, DECREASED URINARY ACTIVITY OF Number Sign 615954 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2 PRIMARY MACRONODULAR ADRENAL HYPERPLASIA Asterisk 615955 COILED-COIL DOMAIN-CONTAINING PROTEIN 183; CCDC183 KIAA1984 Asterisk 615956 COILED-COIL DOMAIN-CONTAINING PROTEIN 151; CCDC151 Number Sign 615957 SPINOCEREBELLAR ATAXIA 38; SCA38 Asterisk 615958 SLX4-INTERACTING PROTEIN; SLX4IP CHROMOSOME 20 OPEN READING FRAME 94; C20ORF94 Number Sign 615959 MYOPATHY, CENTRONUCLEAR, 5; CNM5 Number Sign 615960 PORETTI-BOLTSHAUSER SYNDROME; PTBHS Number Sign 615961 ACID-LABILE SUBUNIT DEFICIENCY; ACLSD Number Sign 615962 GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR GLUCOCORTICOID RECEPTOR DEFICIENCY;; GCCR DEFICIENCY;; GCR DEFICIENCY;; GRL DEFICIENCY;; CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT Number Sign 615963 VESICOURETERAL REFLUX 8; VUR8 Asterisk 615964 MIR99A-LET7C CLUSTER HOST GENE, NONCODING; MIR99AHG MEGAKARYOCYTIC ONCOGENIC NONCODING RNA; MONC;; LONG INTERGENIC NONCODING RNA 478; LINC00478;; lincRNA 478 Asterisk 615965 MIR100-LET7A2 CLUSTER HOST GENE, NONCODING; MIR100HG ADIPOGENESIS-DOWNREGULATED TRANSCRIPT 1; AGD1;; LONG NONCODING RNA, NEURONAL, 2;; lncRNA-N2 Number Sign 615966 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES; IMD26 Asterisk 615967 CYTOCHROME P450, FAMILY 2, SUBFAMILY W, POLYPEPTIDE 1; CYP2W1 Asterisk 615968 MYCN UPSTREAM TRANSCRIPT, NONCODING; MYCNUT LONG NONCODING RNA UPSTREAM OF MYCN;; lncUSMYCN Number Sign 615969 ALPHA-FETOPROTEIN DEFICIENCY; AFPD Number Sign 615970 ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF; HPAFP Caret 615971 REMOVED FROM DATABASE Number Sign 615972 NANOPHTHALMOS 4; NNO4 NANOPHTHALMIA 4 Number Sign 615973 CONE-ROD DYSTROPHY 20; CORD20 Number Sign 615974 DEAFNESS, AUTOSOMAL RECESSIVE 102; DFNB102 Asterisk 615975 TRANSMEMBRANE PROTEIN 129; TMEM129 Asterisk 615976 FOXC1 UPSTREAM TRANSCRIPT, NONCODING; FOXCUT LONG INTERGENIC NONCODING RNA 1379; LINC01379;; TCONS_00011636 Asterisk 615977 MICRO RNA 339; MIR339 miRNA339;; MIR339-5p Number Sign 615978 IMMUNODEFICIENCY 27B; IMD27B IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT;; IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT Number Sign 615979 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45 Number Sign 615980 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6 LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH LIPE MUTATIONS Number Sign 615981 BARDET-BIEDL SYNDROME 2; BBS2 Number Sign 615982 BARDET-BIEDL SYNDROME 4; BBS4 Number Sign 615983 BARDET-BIEDL SYNDROME 5; BBS5 Number Sign 615984 BARDET-BIEDL SYNDROME 7; BBS7 Number Sign 615985 BARDET-BIEDL SYNDROME 8; BBS8 Number Sign 615986 BARDET-BIEDL SYNDROME 9; BBS9 Number Sign 615987 BARDET-BIEDL SYNDROME 10; BBS10 Number Sign 615988 BARDET-BIEDL SYNDROME 11; BBS11 Number Sign 615989 BARDET-BIEDL SYNDROME 12; BBS12 Number Sign 615990 BARDET-BIEDL SYNDROME 13; BBS13 Number Sign 615991 BARDET-BIEDL SYNDROME 14; BBS14 Number Sign 615992 BARDET-BIEDL SYNDROME 15; BBS15 Number Sign 615993 BARDET-BIEDL SYNDROME 16; BBS16 Number Sign 615994 BARDET-BIEDL SYNDROME 17; BBS17 Number Sign 615995 BARDET-BIEDL SYNDROME 18; BBS18 Number Sign 615996 BARDET-BIEDL SYNDROME 19; BBS19 Asterisk 615997 DEFENSIN, BETA, 119; DEFB119 DEFENSIN, BETA, 19; DEFB19 DEFENSIN, BETA, 120, INCLUDED; DEFB120, INCLUDED;; DEFENSIN, BETA, 20, INCLUDED; DEFB20, INCLUDED Asterisk 615998 RING FINGER PROTEIN 10; RNF10 KIAA0262 Number Sign 615999 HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH FDH;; EUTHYROID HYPERTHYROXINEMIA 1 Number Sign 616000 ANALBUMINEMIA; ANALBA Number Sign 616001 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2 Number Sign 616002 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7; FSGS7 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7 Asterisk 616003 APOPTOGENIC PROTEIN 1, MITOCHONDRIAL; APOPT1 APOPTOGENIC PROTEIN; APOP Number Sign 616004 DYSFIBRINOGENEMIA, CONGENITAL HYPODYSFIBRINOGENEMIA, CONGENITAL, INCLUDED Number Sign 616005 IMMUNODEFICIENCY 36; IMD36 Number Sign 616006 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 Number Sign 616007 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA; CAGSSS Asterisk 616008 COP9 SIGNALOSOME, SUBUNIT 4; COPS4 CSN4 Asterisk 616009 COP9 SIGNALOSOME, SUBUNIT 7A; COPS7A CSN7 Asterisk 616010 COP9 SIGNALOSOME, SUBUNIT 7B; COPS7B Asterisk 616011 COP9 SIGNALOSOME, SUBUNIT 8; COPS8 CSN8 Asterisk 616012 JAGUNAL, DROSOPHILA, HOMOLOG OF, 1; JAGN1 Asterisk 616013 tRNA METHYLTRANSFERASE 10, S. CEREVISIAE, HOMOLOG OF, A; TRMT10A RNA (GUANINE-9-)METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; RG9MTD2 Asterisk 616014 RING FINGER PROTEIN 25; RNF25 RING FINGER PROTEIN AO7; AO7 Asterisk 616015 RING FINGER PROTEIN 180; RNF180 RING FINGER PROTEIN IN NEURAL STEM CELLS; RINES Asterisk 616016 PROTEIN PHOSPHATASE, MAGNESIUM/MANGANESE-DEPENDENT, 1H; PPM1H KIAA1157 Asterisk 616017 TRIPARTITE MOTIF-CONTAINING PROTEIN 69; TRIM69 TESTIS-SPECIFIC RING FINGER PROTEIN; TRIF;; RING FINGER PROTEIN 36; RNF36 Caret 616018 REMOVED FROM DATABASE Asterisk 616019 REST COREPRESSOR 2; RCOR2 Asterisk 616020 CYSTEINE/TYROSINE-RICH PROTEIN 1; CYYR1 Asterisk 616021 CYYR1 ANTISENSE RNA 1; CYYR1AS1 Number Sign 616022 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 Asterisk 616023 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 4; SCAF4 SR-RELATED CTD-ASSOCIATED FACTOR 4;; PRE-mRNA SPLICING SR PROTEIN RA4;; KIAA1172 Asterisk 616024 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 8; SCAF8 SR-RELATED CTD-ASSOCIATED FACTOR 8;; PRE-mRNA-SPLICING SR PROTEIN RA8;; KIAA1116 Number Sign 616025 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5; HPMRS5 Number Sign 616026 FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4 FRTS4 WITH MODY Asterisk 616027 ACTIN-BINDING PROTEIN ANILLIN; ANLN Number Sign 616028 ADAMS-OLIVER SYNDROME 5; AOS5 Number Sign 616029 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME; ECTDS Number Sign 616030 HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA; HH22 Asterisk 616031 COILED-COIL DOMAIN-CONTAINING PROTEIN 141; CCDC141 COILED-COIL PROTEIN ASSOCIATED WITH MYOSIN II AND DISC1; CAMDI Number Sign 616032 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8; FSGS8 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 8 Number Sign 616033 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 MSSGM Number Sign 616034 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD Asterisk 616035 FORKHEAD BOX J3; FOXJ3 KIAA1041 Asterisk 616036 MICRO RNA 494; MIR494 miRNA494 Number Sign 616037 CILIARY DYSKINESIA, PRIMARY, 30; CILD30 CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS Number Sign 616038 NEU-LAXOVA SYNDROME 2; NLS2 Number Sign 616039 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D; CMTRID Number Sign 616040 MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7 MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, WITH OR WITHOUT MOTOR NEUROPATHY; MYSPC Asterisk 616041 THIOSULFATE SULFURTRANSFERASE (RHODANESE)-LIKE DOMAIN-CONTAINING PROTEIN 1; TSTD1 KAT Number Sign 616042 DEAFNESS, AUTOSOMAL RECESSIVE 103; DFNB103 Asterisk 616043 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; PCAT1 Number Sign 616044 DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65 Number Sign 616045 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22 Asterisk 616046 PROLINE/SERINE/THREONINE PHOSPHATASE-INTERACTING PROTEIN 2; PSTPIP2 MACROPHAGE ACTIN-ASSOCIATED TYROSINE-PHOSPHORYLATED PROTEIN; MAYP Asterisk 616047 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 97; CFAP97 HEMINGWAY, DROSOPHILA, HOMOLOG OF; HMW;; KIAA1430 Asterisk 616048 ALU-MEDIATED CDKN1A/p21 TRANSCRIPTIONAL REGULATOR, NONCODING; APTR LONG NONCODING RNA APTR;; lncRNA APTR Asterisk 616049 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 34, YEAST, HOMOLOG OF; TOMM34 TOM34 Number Sign 616050 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC Number Sign 616051 MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13 Number Sign 616052 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 20; LGMDR20;; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U; LGMD2U Number Sign 616053 SPINOCEREBELLAR ATAXIA 40; SCA40 Asterisk 616054 ELONGATOR ACETYLTRANSFERASE COMPLEX, SUBUNIT 2; ELP2 STAT-INTERACTING PROTEIN 1; STATIP1 Percent 616055 EPISODIC ATAXIA, TYPE 8; EA8 Number Sign 616056 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26 Asterisk 616057 TUMOR SUPPRESSOR CANDIDATE 7, NONCODING; TUSC7 LONG NONCODING RNA LOC285194;; lncRNA LOC285194;; LSAMP ANTISENSE RNA 3; LSAMPAS3 Asterisk 616058 TCF21 ANTISENSE RNA INDUCING PROMOTER DEMETHYLATION; TARID Number Sign 616059 MIRROR MOVEMENTS 3; MRMV3 Number Sign 616060 BLOOD GROUP, DOMBROCK SYSTEM; DO DOMBROCK BLOOD GROUP SYSTEM Asterisk 616061 MAX DIMERIZATION PROTEIN MGA; MGA KIAA0518 Asterisk 616062 ANKYRIN REPEAT- AND LEM DOMAIN-CONTAINING PROTEIN 2; ANKLE2 LEM DOMAIN-CONTAINING PROTEIN 4; LEM4;; KIAA0692 Number Sign 616063 POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE; POROK8 Asterisk 616064 TUBULOINTERSTITIAL NEPHRITIS ANTIGEN-LIKE PROTEIN 1; TINAGL1 TINAG-LIKE PROTEIN 1;; TINAG-RELATED PROTEIN; TINAGRP Asterisk 616065 PILR-ALPHA-ASSOCIATED NEURAL PROTEIN; PIANP PILRA-ASSOCIATED NEURAL PROTEIN; PANP;; LIVER ENDOTHELIAL DIFFERENTIATION-ASSOCIATED PROTEIN, 1; LEDA1 Asterisk 616066 SPERMATOGENESIS- AND OOGENESIS-SPECIFIC BASIC HELIX-LOOP-HELIX PROTEIN 2; SOHLH2 Number Sign 616067 46,XY SEX REVERSAL 9; SRXY9 46,XY SEX REVERSAL, ZFPM2-RELATED Asterisk 616068 HOXA CLUSTER ANTISENSE RNA 2; HOXAAS2 LONG INTERGENIC NONCODING RNA HOXAAS2;; lincRNA HOXAAS2 Number Sign 616069 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; NISBD2 Asterisk 616070 COILED-COIL DOMAIN-CONTAINING PROTEIN 113; CCDC113 Asterisk 616071 CHROMOSOME 7 OPEN READING FRAME 31; C7ORF31 Asterisk 616072 HETEROCHROMATIN PROTEIN 1-BINDING PROTEIN 3; HP1BP3 HP1-BINDING PROTEIN 74; HP1BP74 Asterisk 616073 DEP DOMAIN-CONTAINING PROTEIN 1B; DEPDC1B Asterisk 616074 CHEMOKINE-LIKE FACTOR; CKLF HSPC224 Asterisk 616075 DEFENSIN, BETA, 121; DEFB121 DEFENSIN, BETA, 21; DEFB21 Asterisk 616076 DEFENSIN, BETA, 123; DEFB123 DEFENSIN, BETA, 23; DEFB23 Asterisk 616077 DEFENSIN, BETA, 122, PSEUDOGENE; DEFB122 DEFB122P;; DEFENSIN, BETA, 22; DEFB22;; DEFB22P Number Sign 616078 MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29 Number Sign 616079 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES; RDGCA Number Sign 616080 MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12 Number Sign 616081 PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA Asterisk 616082 CHROMOSOME 12 OPEN READING FRAME 4; C12ORF4 Number Sign 616083 MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30 Number Sign 616084 SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD Asterisk 616085 ZINC FINGER PROTEIN 37A; ZNF37A KOX21;; ZNF37 Asterisk 616086 SprT-LIKE N-TERMINAL DOMAIN PROTEIN; SPRTN SprT-LIKE DOMAIN AT N TERMINUS;; SPARTAN;; DNA DAMAGE-TARGETING VCP ADAPTOR C1ORF124; DVC1;; CHROMOSOME 1 OPEN READING FRAME 124; C1ORF124 Number Sign 616087 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5; NIDDM5 Asterisk 616088 CHROMOSOME 1 OPEN READING FRAME 186; C1ORF186 REGULATOR OF HUMAN ERYTHROID CELL EXPANSION; RHEX Number Sign 616089 BLOOD GROUP, GERBICH SYSTEM; GE GERBICH BLOOD GROUP SYSTEM Asterisk 616090 MICRO RNA 802; MIR802 miRNA802 Asterisk 616091 METHYLTRANSFERASE-LIKE 17; METTL17 METHYLTRANSFERASE 11 DOMAIN-CONTAINING PROTEIN 1; METT11D1 Asterisk 616092 FOCALLY AMPLIFIED LONG NONCODING RNA IN EPITHELIAL CANCER; FALEC FOCALLY AMPLIFIED lncRNA ON CHROMOSOME 1; FAL1 Number Sign 616093 BLOOD GROUP, ABO SYSTEM ABO BLOOD GROUP SYSTEM Number Sign 616094 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED Number Sign 616095 MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D Asterisk 616096 MYOSIN HEAVY CHAIN-ASSOCIATED RNA TRANSCRIPT, NONCODING; MHRT LONG NONCODING RNA MHRT;; lncRNA MHRT;; MYHEART Asterisk 616097 UBIQUINOL-CYTOCHROME C REDUCTASE COMPLEX ASSEMBLY FACTOR 3; UQCC3 CHROMOSOME 11 OPEN READING FRAME 83; C11ORF83 Number Sign 616098 IMMUNODEFICIENCY 37; IMD37 Number Sign 616099 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR; PPKWH Number Sign 616100 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION; CHAI Asterisk 616101 TRANSMEMBRANE PROTEIN 240; TMEM240 CHROMOSOME 1 OPEN READING FRAME 70; C1ORF70 Asterisk 616102 THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 3; TMX3 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 10; TXNDC10;; KIAA1830 Asterisk 616103 LEUCINE-RICH REPEAT, IMMUNOGLOBULIN-LIKE, AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; LRIT1 PAL Asterisk 616104 RBPJ-LIKE PROTEIN; RBPJL RBPL;; SUHL Asterisk 616105 SORTING NEXIN 14; SNX14 Number Sign 616106 PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO; PSORS15 Asterisk 616107 FATTY ACYL CoA REDUCTASE 1; FAR1 MALE STERILITY DOMAIN-CONTAINING PROTEIN 2; MLSTD2 Number Sign 616108 RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME; RDJCSS Asterisk 616109 CHROMOSOME 11 OPEN READING FRAME 80; C11ORF80 TOPOISOMERASE VI-B LIKE; TOPOVIBL;; TOPOVIB;; TOP6BL FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(11)(q13.3), INCLUDED; FRA11A, INCLUDED Asterisk 616110 DELTEX, DROSOPHILA, HOMOLOG OF, 4; DTX4 RING FINGER PROTEIN 155; RNF155;; KIAA0937 Number Sign 616111 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9; MC3DN9 Asterisk 616112 LEIOMODIN 3; LMOD3 Number Sign 616113 POLYENDOCRINE-POLYNEUROPATHY SYNDROME; PEPNS Asterisk 616114 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 6; CHD6 CHD5;; RIGB Number Sign 616115 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4 Number Sign 616116 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46 Number Sign 616117 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY; CCDD Number Sign 616118 MACULAR DEGENERATION, EARLY-ONSET; EOMD Asterisk 616119 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 126; CFAP126 FLATTOP; FLTP Asterisk 616120 CWF19-LIKE PROTEIN 1; CWF19L1 C19L1 NULL 616121 GTPase, VERY LARGE INTERFERON-INDUCIBLE, PSEUDOGENE 1; GVINP1 VERY LARGE INDUCIBLE GTPase 1; VLIG1 Asterisk 616122 FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER B1; FAM86B1 Asterisk 616123 FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER B2; FAM86B2 Asterisk 616124 FAMILY WITH SEQUENCE SIMILARITY 86, MEMBER C1; FAM86C1 FAM86C Asterisk 616125 PROTEIN ARGININE METHYLTRANSFERASE 9; PRMT9 PRMT10 Number Sign 616126 IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION; IMD38 IMMUNODEFICIENCY 38, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE;; ISG15 DEFICIENCY, AUTOSOMAL RECESSIVE Number Sign 616127 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 Asterisk 616128 FAMILY WITH SEQUENCE SIMILARITY 89, MEMBER B; FAM89B MAMMARY TUMOR VIRUS RECEPTOR, MOUSE, HOMOLOG OF; MTVR;; LEUCINE REPEAT ADAPTOR PROTEIN, 25-KD; LRAP25 Asterisk 616129 LEUCINE-RICH ADAPTOR PROTEIN 1; LURAP1 LEUCINE REPEAT ADAPTOR PROTEIN, 35-KD, A; LRAP35A Asterisk 616130 LEUCINE-RICH ADAPTOR PROTEIN 1-LIKE; LURAP1L LURAP1-LIKE;; LEUCINE REPEAT ADAPTOR PROTEIN, 35-KD, B; LRAP35B Asterisk 616131 GASTRIC CANCER-ASSOCIATED TRANSCRIPT 2, NONCODING; GACAT2 MTCL1 ANTISENSE RNA 1; MTCL1AS1;; LONG INTERGENIC NONCODING RNA 717;; lincRNA717 Asterisk 616132 GASTRIC CANCER-ASSOCIATED TRANSCRIPT 3, NONCODING; GACAT3 LONG NONCODING RNA AC130170;; lncRNA AC130710;; LINC01458 Asterisk 616133 MPV17-LIKE PROTEIN 2; MPV17L2 Asterisk 616134 H3 HISTONE, FAMILY 3C; H3F3C H3.5 Asterisk 616135 INTERFERON-INDUCED PROTEIN WITH TETRATRICOPEPTIDE REPEATS 5; IFIT5 RETINOIC ACID- AND INTERFERON-INDUCED PROTEIN, 58-KD; RI58;; INTERFERON-STIMULATED PROTEIN, 58-KD; ISG58 Asterisk 616136 RING FINGER PROTEIN 220; RNF220 Asterisk 616137 MICRO RNA 873; MIR873 miRNA873 Number Sign 616138 PERRAULT SYNDROME 5; PRLTS5 Number Sign 616139 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27; EIEE27 Number Sign 616140 LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9 Asterisk 616141 H2A HISTONE FAMILY, MEMBER Y2; H2AFY2 MACRO H2A2 Asterisk 616142 FAMILY WITH SEQUENCE SIMILARITY 98, MEMBER B; FAM98B Asterisk 616143 LYSOPHOSPHOLIPASE II; LYPLA2 ACYL PROTEIN THIOESTERASE 2; APT2 Asterisk 616144 WD REPEAT-CONTAINING PROTEIN 73; WDR73 HSPC264 Number Sign 616145 CATEL-MANZKE SYNDROME; CATMANS HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME;; PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY;; INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME;; PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE;; MICROGNATHIA DIGITAL SYNDROME Asterisk 616146 TDP-GLUCOSE 4,6-DEHYDRATASE; TGDS SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 2E, MEMBER 1; SDR2E1;; GROWTH-INHIBITING PROTEIN 21 Asterisk 616147 CYCLIN-DEPENDENT KINASE 15; CDK15 PFTAIRE PROTEIN KINASE 2; PFTAIRE2;; ALS2 CHROMOSOME REGION GENE 7; ALS2CR7 Asterisk 616148 TRIPARTITE MOTIF-CONTAINING PROTEIN 59; TRIM59 RING FINGER PROTEIN 104; RNF104;; MOUSE RING FINGER 1, HOMOLOG OF; MRF1 IFT80-LONG, INCLUDED; IFT80L, INCLUDED Asterisk 616149 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, PYRIMIDINE NUCLEOTIDE TRANSPORTER), MEMBER 36; SLC25A36 PYRIMIDINE NUCLEOTIDE CARRIER 2; PNC2 Asterisk 616150 SOLUTE CARRIER FAMILY 25, MEMBER 48; SLC25A48 Number Sign 616151 MACULAR DYSTROPHY, VITELLIFORM, 4; VMD4 Number Sign 616152 MACULAR DYSTROPHY, VITELLIFORM, 5; VMD5 Asterisk 616153 SOLUTE CARRIER FAMILY 25, MEMBER 52; SLC25A52 MITOCHONDRIAL CARRIER TRIPLE REPEAT 2; MCART2 Number Sign 616154 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD Number Sign 616155 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S Asterisk 616156 FATTY ACYL CoA REDUCTASE 2; FAR2 MALE STERILITY DOMAIN-CONTAINING PROTEIN 1; MLSTD1 Asterisk 616157 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 13; DHRS13 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 7C, MEMBER 5; SDR7C5 Number Sign 616158 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 Asterisk 616159 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 11; DHRS11 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 24C, MEMBER 1; SDR24C1 Asterisk 616160 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7B; DHRS7B SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 32C, MEMBER 1; SDR32C1 Asterisk 616161 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 7C; DHRS7C SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 32C, MEMBER 2; SDR32C2 Asterisk 616162 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 39U, MEMBER 1; SDR39U1 Asterisk 616163 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY, MEMBER 12; DHRS12 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 40C, MEMBER 1; SDR40C1 Asterisk 616164 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 42E, MEMBER 1; SDR42E1 Number Sign 616165 NEMALINE MYOPATHY 10; NEM10 Number Sign 616166 AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION Asterisk 616167 DCN1 DOMAIN-CONTAINING PROTEIN 3; DCUN1D3 SQUAMOUS CELL CARCINOMA-RELATED ONCOGENE 3; SCCRO3 Asterisk 616168 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 6, YEAST, HOMOLOG OF; TOMM6 TOM6 Asterisk 616169 TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 5, YEAST, HOMOLOG OF; TOMM5 TOM5 Number Sign 616170 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD Number Sign 616171 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2 Number Sign 616172 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9 GEFS+, TYPE 9; GEFS+9 Asterisk 616173 NUCLEAR SPECKLE SPLICING REGULATORY PROTEIN 1; NSRP1 NUCLEAR SPECKLE-RELATED PROTEIN, 70-KD; NSRP70;; COILED-COIL DOMAIN-CONTAINING PROTEIN 55; CCDC55 Asterisk 616174 CYTOSKELETON-ASSOCIATED PROTEIN 2-LIKE; CKAP2L RADIAL FIBER AND MITOTIC SPINDLE PROTEIN; RADMIS Asterisk 616175 UBIQUITIN-CONJUGATING ENZYME E2J 1; UBE2J1 UBC6E Number Sign 616176 BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19 Asterisk 616177 DDRGK DOMAIN-CONTAINING PROTEIN 1; DDRGK1 DASHURIN;; UFM1-BINDING PROTEIN CONTAINING A PCI DOMAIN 1; UFBP1;; CHROMOSOME 20 OPEN READING FRAME 116; C20ORF116 Asterisk 616178 TRANSMEMBRANE PROTEIN 132E; TMEM132E Asterisk 616179 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 16; TXNDC16 KIAA1344;; ERp90 Asterisk 616180 GOLGIN A8 FAMILY, MEMBER A; GOLGA8A KIAA0855 Asterisk 616181 ZINC FINGER PROTEIN 713; ZNF713 FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(7)(p11.2), INCLUDED; FRA7A, INCLUDED Percent 616182 CHRONIC MOUNTAIN SICKNESS, SUSCEPTIBILITY TO MONGE DISEASE Asterisk 616183 TRANSMEMBRANE PROTEIN 107; TMEM107 SCHLEI, MOUSE, HOMOLOG OF Asterisk 616184 CLUSTERED MITOCHONDRIA, D. DISCOIDEUM, HOMOLOG OF; CLUH cluA, D. DISCOIDEUM, HOMOLOG OF;; CLU1, S. CEREVISIAE, HOMOLOG OF; CLU1;; KIAA0664 Number Sign 616185 OVARIAN DYSGENESIS 4; ODG4 Asterisk 616186 H19/IGF2-IMPRINTING CONTROL REGION ICR1;; H19 ICR Number Sign 616187 EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7 Number Sign 616188 RETINAL DYSTROPHY AND OBESITY; RDOB Asterisk 616189 CAP METHYLTRANSFERASE 1; CMTR1 METHYLTRANSFERASE 1; MTR1;; INTERFERON-STIMULATED GENE 95; ISG95;; FtsJ METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 2; FTSJD2;; KIAA0082 Asterisk 616190 CAP METHYLTRANSFERASE 2; CMTR2 METHYLTRANSFERASE 2; MTR2;; FtsJ METHYLTRANSFERASE DOMAIN-CONTAINING PROTEIN 1; FTSJD1 Asterisk 616191 DISCS LARGE-ASSOCIATED PROTEIN 4; DLGAP4 SAP90/PSD95-ASSOCIATED PROTEIN 4; SAPAP4;; KIAA0964 DLGAP4 NONCODING RNAS, INCLUDED;; DLGAP ncRNAS, INCLUDED Number Sign 616192 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD Number Sign 616193 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47 Asterisk 616194 UTP15, U3 SMALL NUCLEOLAR RIBONUCLEOPROTEIN, S. CEREVISIAE, HOMOLOG OF; UTP15 U3 SMALL NUCLEOLAR RNA-ASSOCIATED PROTEIN 15 Asterisk 616195 WD REPEAT-CONTAINING PROTEIN 43; WDR43 UTP5;; KIAA0007 Asterisk 616196 DDB1- AND CUL4-ASSOCIATED FACTOR 13; DCAF13 WD REPEAT- AND SOF1 DOMAIN-CONTAINING PROTEIN 1; WDSOF1 Asterisk 616197 NUCLEOLAR PROTEIN 10; NOL10 POLYGLUTAMINE-BINDING PROTEIN 5; PQBP5 Number Sign 616198 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23 Number Sign 616199 POLYGLUCOSAN BODY MYOPATHY 2; PGBM2 Number Sign 616200 RUIJS-AALFS SYNDROME; RJALS Number Sign 616201 CHRONIC ATRIAL AND INTESTINAL DYSRHYTHMIA; CAID Number Sign 616202 CEREBELLOFACIODENTAL SYNDROME; CFDS CEREBELLAR-FACIAL-DENTAL SYNDROME Asterisk 616203 SOLUTE CARRIER FAMILY 38, MEMBER 9; SLC38A9 UPREGULATED IN LUNG CANCER 11; URLC11 Number Sign 616204 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 Asterisk 616205 MICRO RNA 648; MIR648 miRNA648 Asterisk 616206 NEUROBLASTOMA-ASSOCIATED TRANSCRIPT 1, NONCODING; NBAT1 LONG NONCODING RNA NBAT1;; lncRNA NBAT1;; CANCER SUSCEPTIBILITY CANDIDATE 14; CASC14 Asterisk 616207 NEGATIVE REGULATOR OF ANTIVIRAL RESPONSE, NONCODING; NRAV LONG NONCODING RNA NRAV;; lncRNA NRAV;; DYNLL1 ANTISENSE RNA 1; DYNLL1AS1 Number Sign 616208 AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22 Number Sign 616209 MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT; IMMD Asterisk 616210 CHROMOSOME 4 OPEN READING FRAME 46; C4ORF46 RENAL CANCER DIFFERENTIATION GENE 1; RCDG1 Number Sign 616211 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28 Number Sign 616212 LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6 Asterisk 616213 ZINC FINGER PROTEIN 292; ZNF292 ZFP292;; ZN16;; KIAA0530 Number Sign 616214 HYPERPROINSULINEMIA Asterisk 616215 cAMP RESPONSE ELEMENT-BINDING PROTEIN 3-LIKE 1; CREB3L1 OLD ASTROCYTE SPECIFICALLY INDUCED SUBSTANCE; OASIS Number Sign 616216 THROMBOCYTOPENIA 5; THC5 THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY;; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5 Number Sign 616217 NEPHRONOPHTHISIS 19; NPHP19 Asterisk 616218 TBC1 DOMAIN FAMILY, MEMBER 13; TBC1D13 Number Sign 616219 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; CFEOM5 Number Sign 616220 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9; FSGS9 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 9 Number Sign 616221 AMELOGENESIS IMPERFECTA, TYPE IH; AI1H Number Sign 616222 TEMPLE SYNDROME UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 14 Asterisk 616223 CHROMOSOME 19 OPEN READING FRAME 80; C19ORF80 ANGIOPOIETIN-LIKE 8; ANGPTL8;; LIPASE INHIBITION PROTEIN; LIPASIN Number Sign 616224 MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 PREPL DEFICIENCY Asterisk 616225 AUTOPHAGY 2, S. CEREVISIAE, HOMOLOG OF, A; ATG2A KIAA0404 Asterisk 616226 AUTOPHAGY 2, S. CEREVISIAE, HOMOLOG OF, B; ATG2B Number Sign 616227 MYASTHENIC SYNDROME, CONGENITAL, 15; CMS15 MYASTHENIC SYNDROME, CONGENITAL, WITHOUT TUBULAR AGGREGATES; CMSWTA Number Sign 616228 MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 3; CMSTA3 Number Sign 616229 OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 OI, TYPE XVI CHROMOSOME 11p11.2 DELETION SYNDROME, 91.3-KB, INCLUDED Number Sign 616230 EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8 Number Sign 616231 MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES; VMCQA Asterisk 616232 MEIOTIC KINETOCHORE FACTOR; MEIKIN MEIOSIS-SPECIFIC KINETOCHORE PROTEIN Caret 616233 MOVED TO 614881 Asterisk 616234 WD REPEAT- AND COILED-COIL-CONTAINING PROTEIN; WDCP CHROMOSOME 2 OPEN READING FRAME 44; C2ORF44 Asterisk 616235 KATANIN, p80 SUBUNIT, B-LIKE 1; KATNBL1 KATNB1-LIKE PROTEIN 1;; CHROMOSOME 15 OPEN READING FRAME 29; C15ORF29 Asterisk 616236 CHONDROADHERIN-LIKE; CHADL Asterisk 616237 KINASE NONCATALYTIC C-LOBE DOMAIN-CONTAINING PROTEIN 1; KNDC1 KIND-CONTAINING PROTEIN 1;; VERY KIND PROTEIN; VKIND;; RASGEF DOMAIN-CONTAINING FAMILY, MEMBER 2; RASGEF2;; KIAA1768 Asterisk 616238 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 49; ZBTB49 ZINC FINGER PROTEIN 509; ZNF509 Number Sign 616239 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24 Asterisk 616240 OLIGODENDROCYTE MATURATION-ASSOCIATED LONG INTERGENIC NONCODING RNA; OLMALINC LONG INTERGENIC NONCODING RNA 263; LINC00263;; lincRNA OLMALINC OLMALINC ANTISENSE RNA, INCLUDED; OLMALINCAS, INCLUDED Asterisk 616241 METEORIN-LIKE PROTEIN; METRNL SUBFATIN Asterisk 616242 TRANSMEMBRANE AND COILED-COIL DOMAIN FAMILY, MEMBER 1; TMCC1 KIAA0779 Asterisk 616243 KIAA0922 GENE; KIAA0922 TRANSMEMBRANE PROTEIN 131-LIKE; TMEM131L Asterisk 616244 COILED-COIL-HELIX-COILED-COIL-HELIX DOMAIN-CONTAINING PROTEIN 2; CHCHD2 Asterisk 616245 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 4; EMC4 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 4;; TRANSMEMBRANE PROTEIN 85; TMEM85;; PROLIFERATION-INDUCING GENE 17; PIG17 Asterisk 616246 MYOREGULIN; MRLN MLN;; LINC00948 Number Sign 616247 LONG QT SYNDROME 14; LQT14 Number Sign 616248 LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6 Number Sign 616249 LONG QT SYNDROME 15; LQT15 Asterisk 616250 NACHT DOMAIN- AND WD REPEAT-CONTAINING PROTEIN 1; NWD1 Asterisk 616251 TRPM8 CHANNEL-ASSOCIATED FACTOR 1; TCAF1 FAMILY WITH SEQUENCE SIMILARITY 115, MEMBER A; FAM115A;; KIAA0738 Asterisk 616252 TRPM8 CHANNEL-ASSOCIATED FACTOR 2; TCAF2 FAMILY WITH SEQUENCE SIMILARITY 115, MEMBER C; FAM115C;; FAMILY WITH SEQUENCE SIMILARITY 139, MEMBER A; FAM139A Asterisk 616253 GS HOMEOBOX 2; GSX2 GENETIC-SCREENED HOMEOBOX 2; GSH2 Asterisk 616254 CASEINOLYTIC PEPTIDASE B; CLPB ClpB, E. COLI, HOMOLOG OF;; SUPPRESSOR OF POTASSIUM TRANSPORT DEFECT 3; SKD3 Number Sign 616255 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES; SNSK Asterisk 616256 C-TYPE LECTIN DOMAIN FAMILY 4, MEMBER G; CLEC4G LIVER AND LYMPH NODE SINUSOIDAL ENDOTHELIAL CELL C-TYPE LECTIN; LSECTIN Asterisk 616257 FK506-BINDING PROTEIN 9; FKBP9 FK506-BINDING PROTEIN, 60-KD; FKBP60;; FK506-BINDING PROTEIN, 63-KD; FKBP63 Number Sign 616258 MECKEL SYNDROME 12; MKS12 Asterisk 616259 SMALL NUCLEOLAR RNA HOST GENE 14; SNHG14 LARGE NONCODING ANTISENSE TRANSCRIPT, MOUSE, HOMOLOG OF; LNCAT;; UBE3A ANTISENSE TRANSCRIPT; UBE3AAS; UBE3AATS Number Sign 616260 TENORIO SYNDROME; TNORS OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME Asterisk 616261 PSEUDOURIDYLATE SYNTHASE 7, PUTATIVE; PUS7 KIAA1897 Asterisk 616262 KELCH-LIKE 21; KLHL21 KIAA0469 Number Sign 616263 NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD Asterisk 616264 MAF TRANSCRIPTIONAL REGULATOR RNA, NONCODING; MAFTRR LONG INTERGENIC NONCODING RNA MAF4;; lincRNA MAF4;; lincMAF4 Number Sign 616265 PEELING SKIN SYNDROME 3; PSS3 Number Sign 616266 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD Number Sign 616267 ATAXIA-OCULOMOTOR APRAXIA 4; AOA4 Number Sign 616268 MENTAL RETARDATION, AUTOSOMAL DOMINANT 32; MRD32 Number Sign 616269 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48; MRT48 Number Sign 616270 AMELOGENESIS IMPERFECTA, TYPE IF; AI1F AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF; AI1F Number Sign 616271 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN 3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7 Asterisk 616272 MICRO RNA 520G; MIR520G miRNA520G Asterisk 616273 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 29, NONCODING; PCAT29 LONG NONCODING RNA PCAT29;; lncRNA PCAT29 Asterisk 616274 MICRO RNA 4276; MIR4276 miRNA4276 Asterisk 616275 FAMILY WITH SEQUENCE SIMILARITY 136, MEMBER A; FAM136A Number Sign 616276 COENZYME Q10 DEFICIENCY, PRIMARY, 7; COQ10D7 Number Sign 616277 MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D Number Sign 616278 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5 Number Sign 616279 CATARACT 43; CTRCT43 Number Sign 616280 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U; CMT2U CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U Number Sign 616281 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Number Sign 616282 SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73 Asterisk 616283 PSEUDOURIDYLATE SYNTHASE 3; PUS3 Asterisk 616284 FILAGGRIN FAMILY MEMBER 2; FLG2 FILAGGRIN 2;; IFAPSORIASIN; IFPS Asterisk 616285 FORMIN-LIKE 2; FMNL2 KIAA1902 Number Sign 616286 LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7 Number Sign 616287 LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8 Asterisk 616288 FORMIN-LIKE 3; FMNL3 FRL2 Number Sign 616289 OPTIC ATROPHY 9; OPA9 Asterisk 616290 ZINC FINGER PROTEIN 658; ZNF658 Number Sign 616291 LICHTENSTEIN-KNORR SYNDROME; LIKNS SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 19; SCAR19 Asterisk 616292 STABILIZER OF AXONEMAL MICROTUBULES 1; SAXO1 FAMILY WITH SEQUENCE SIMILARITY 154, MEMBER A; FAM154A Asterisk 616293 HORNERIN; HRNR Number Sign 616294 COLE-CARPENTER SYNDROME 2; CLCRP2 Number Sign 616295 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK Asterisk 616296 MULTIPLE C2 DOMAINS-CONTAINING TRANSMEMBRANE PROTEIN 1; MCTP1 Asterisk 616297 MULTIPLE C2 DOMAINS-CONTAINING TRANSMEMBRANE PROTEIN 2; MCTP2 Number Sign 616298 SINGLETON-MERTEN SYNDROME 2; SGMRT2 Number Sign 616299 LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D Number Sign 616300 SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13 Asterisk 616301 CD300 ANTIGEN-LIKE FAMILY, MEMBER D; CD300LD CD300D Asterisk 616302 FORKHEAD BOX K1; FOXK1 MYOCYTE NUCLEAR FACTOR; MNF Asterisk 616303 WD REPEAT-CONTAINING PROTEIN 91; WDR91 SORF1, C. ELEGANS, HOMOLOG OF; SORF1 Number Sign 616304 MYASTHENIC SYNDROME, CONGENITAL, 17; CMS17 Asterisk 616305 FERM DOMAIN-CONTAINING PROTEIN 4A; FRMD4A KIAA1294 Asterisk 616306 FIBRINOGEN SILENCER-BINDING PROTEIN; FSBP Number Sign 616307 SENIOR-LOKEN SYNDROME 8; SLSN8 Asterisk 616308 BETA-GLOBIN LOCUS TRANSCRIPT 3, NONCODING; BGLT3 LONG NONCODING RNA BGL3;; lncRNA BGL3;; LINC01083 Asterisk 616309 FERM DOMAIN-CONTAINING PROTEIN 5; FRMD5 Asterisk 616310 RHO GTPase-ACTIVATING PROTEIN 11B; ARHGAP11B FAMILY WITH SEQUENCE SIMILARITY 7, MEMBER B1; FAM7B1 Number Sign 616311 MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33 Asterisk 616312 LEM DOMAIN-CONTAINING PROTEIN 2; LEMD2 NUCLEAR ENVELOPE TRANSMEMBRANE PROTEIN 25; NET25;; LEM2 Number Sign 616313 MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL; CMS2A Number Sign 616314 MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C Asterisk 616315 PARALOG OF XRCC4 AND XLF; PAXX CHROMOSOME 9 OPEN READING FRAME 142; C9ORF142;; XRCC4-LIKE SMALL PROTEIN; XLS Asterisk 616316 FAMILY WITH SEQUENCE SIMILARITY 168, MEMBER A; FAM168A TONGUE CANCER CHEMOTHERAPY RESISTANCE-ASSOCIATED PROTEIN 1; TCRP1;; KIAA0280 Asterisk 616317 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 1; GDPD1 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 4; GDE4 Asterisk 616318 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE DOMAIN-CONTAINING PROTEIN 3; GDPD3 GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE 7; GDE7 Asterisk 616319 RING FINGER PROTEIN 138; RNF138 NEMO-LIKE KINASE-ASSOCIATED RING FINGER PROTEIN; NARF;; NLK-ASSOCIATED RING FINGER PROTEIN Asterisk 616320 FUMARYLACETOACETATE HYDROLASE DOMAIN-CONTAINING PROTEIN 1; FAHD1 FAH DOMAIN-CONTAINING PROTEIN 1;; FLJ36880 Number Sign 616321 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A Number Sign 616322 MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B Number Sign 616323 MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C Number Sign 616324 MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B Number Sign 616325 MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS9 Number Sign 616326 MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 MYASTHENIC SYNDROME, CONGENITAL, Ie, FORMERLY; CMS1E, FORMERLY;; CMS Ie, FORMERLY Asterisk 616327 CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1 CAMP; CHAMP;; ZINC FINGER PROTEIN 828; ZNF828;; CHROMOSOME 13 OPEN READING FRAME 8; C13ORF8;; KIAA1802 Asterisk 616328 LONG INTERGENIC NONCODING RNA PINKY lincRNA PINKY; PNKY Number Sign 616329 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13; MODY13 MODY, TYPE 13 Number Sign 616330 MYASTHENIC SYNDROME, CONGENITAL, 18; CMS18 MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA Number Sign 616331 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 Asterisk 616332 ACIDIC RESIDUE METHYLTRANSFERASE 1; ARMT1 CHROMOSOME 6 OPEN READING FRAME 211; C6ORF211 Asterisk 616333 WNT SIGNALING PATHWAY ACTIVATING NONCODING RNA; WSPAR LONG NONCODING RNA WSPAR;; lncRNA WSPAR;; lncTCF7 Asterisk 616334 TRANSMEMBRANE PROTEIN 100; TMEM100 Number Sign 616335 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3 Asterisk 616336 ALDO-KETO REDUCTASE FAMILY 1, MEMBER B15; AKR1B15 AKR1B10-LIKE; AKR1B10L;; AKR1R1B7 Asterisk 616337 SUPPRESSOR OF CYTOKINE SIGNALING 4; SOCS4 SUPPRESSOR OF CYTOKINE SIGNALING 7; SOCS7 Asterisk 616338 SOX2 OVERLAPPING TRANSCRIPT, NONCODING; SOX2OT NONCODING RNA 43; NCRNA00043 Number Sign 616339 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29 Number Sign 616340 DEAFNESS, AUTOSOMAL DOMINANT 67; DFNA67 Number Sign 616341 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30 Number Sign 616342 LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7 Asterisk 616343 TUMOR PROTEIN p53 PATHWAY COREPRESSOR 1, NONCODING; TP53COR1 LONG INTERGENIC NONCODING RNA TP53COR1;; lincRNA TP53COR1;; lincRNA-p21 Asterisk 616344 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 23-LIKE; TTC23L TTC23-LIKE Number Sign 616345 IMMUNODEFICIENCY 39; IMD39 Number Sign 616346 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31 Asterisk 616347 PR DOMAIN-CONTAINING PROTEIN 11; PRDM11 PFM8 Asterisk 616348 ZINC FINGER PROTEIN 695; ZNF695 SBZF3 Asterisk 616349 SORBIN AND SH3 DOMAINS-CONTAINING PROTEIN 2; SORBS2 ARG-BINDING PROTEIN 2; ARGBP2;; KIAA0777 Asterisk 616350 PROMOTER OF MAT2A ANTISENSE RADIATION-INDUCED CIRCULATING LONG NONCODING RNA; PARTICL LONG NONCODING RNA PARTICL;; lncRNA PARTICL;; PARTICLE Number Sign 616351 MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34 Asterisk 616352 ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 6; ACBD6 Number Sign 616353 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6 Number Sign 616354 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 Number Sign 616355 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35; MRD35 Asterisk 616356 MICRO RNA 31 HOST GENE, NONCODING; MIR31HG MIR31 HOST GENE;; LONG NONCODING RNA MIR31HG;; lncRNA MIR31HG;; LOC554202 Number Sign 616357 DEAFNESS, AUTOSOMAL DOMINANT 40; DFNA40 Asterisk 616358 MICRO RNA 379; MIR379 miRNA379 Asterisk 616359 COQ5, S. CEREVISIAE, HOMOLOG OF; COQ5 Asterisk 616360 TRANSMEMBRANE PROTEIN 135; TMEM135 PEROXISOMAL MEMBRANE PROTEIN 52; PMP52 Percent 616361 PARKINSON DISEASE 21; PARK21 Number Sign 616362 MENTAL RETARDATION, AUTOSOMAL DOMINANT 36; MRD36 Asterisk 616363 SMALL PROLINE-RICH PROTEIN 4; SPRR4 Number Sign 616364 WHITE-SUTTON SYNDROME; WHSUS MENTAL RETARDATION, AUTOSOMAL DOMINANT 37; MRD37 Asterisk 616365 SCY1-LIKE PROTEIN 2; SCYL2 SCY1, S. CEREVISIAE, HOMOLOG OF, 2;; COATED VESICLE-ASSOCIATED KINASE, 104-KD; CVAK104;; KIAA1360 Number Sign 616366 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32 Number Sign 616367 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA Number Sign 616368 CHOPS SYNDROME; CHOPS COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA Caret 616369 MOVED TO 243605 Number Sign 616370 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4 Number Sign 616371 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4 Asterisk 616372 DDB1- AND CUL4-ASSOCIATED FACTOR 4; DCAF4 WD REPEAT-CONTAINING PROTEIN 21; WDR21;; WDR21A Number Sign 616373 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3 Asterisk 616374 BEN DOMAIN-CONTAINING PROTEIN 3; BEND3 KIAA1553 Asterisk 616375 UNKEMPT FAMILY ZINC FINGER PROTEIN; UNK UNKEMPT;; ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 5; ZC3HDC5; ZC3H5;; KIAA1753 Asterisk 616376 MICRO RNA 656; MIR656 miRNA656 Asterisk 616377 PROLINE DEHYDROGENASE (OXIDASE) 2; PRODH2 HYDROXYPROLINE OXIDASE;; HYDROXYPROLINE DEHYDROGENASE; HYPDH Asterisk 616378 UBX DOMAIN PROTEIN 1; UBXN1 SAPK SUBSTRATE PROTEIN 1; SAKS1 Asterisk 616379 UBX DOMAIN PROTEIN 7; UBXN7 KIAA0794 Asterisk 616380 LAMININ, BETA-4; LAMB4 Asterisk 616381 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 8; ZCCHC8 Asterisk 616382 URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER A3; UGT2A3 UDP GLUCURONOSYLTRANSFERASE 2 FAMILY, MEMBER A3 Asterisk 616383 URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A1; UGT3A1 UDP GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A1 Asterisk 616384 URIDINE DIPHOSPHATE GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A2; UGT3A2 UDP GLUCURONOSYLTRANSFERASE 3 FAMILY, MEMBER A2 Asterisk 616385 LONG INTERGENIC NONCODING RNA 1018; LINC01018 lincRNA 1018;; SRHC Asterisk 616386 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 17; KCTD17 Asterisk 616387 DOWNREGULATED RNA IN ANDROGEN-INDEPENDENT CELLS, NONCODING; DRAIC LONG NONCODING RNA DRAIC;; lncRNA DRAIC Asterisk 616388 UBIQUITIN DOMAIN-CONTAINING PROTEIN 1; UBTD1 Number Sign 616389 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G Number Sign 616390 TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2 Asterisk 616391 RAN-BINDING PROTEIN 3-LIKE; RANBP3L RANBP3-LIKE NULL 616392 SKINT1-LIKE PSEUDOGENE; SKINTL SKINT1L;; SKINTP Number Sign 616393 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 PSYCHOMOTOR RETARDATION, EPILEPSY, AND LANGUAGE DISABILITY SYNDROME; PRELDS Number Sign 616394 RETINITIS PIGMENTOSA 71; RP71 Number Sign 616395 TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 TRICHOTHIODYSTROPHY, COMPLEMENTATION GROUP A; TTDA Asterisk 616396 SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG OF, 1; SCMH1 Asterisk 616397 PEROXISOMAL MEMBRANE PROTEIN 4; PXMP4 PEROXISOMAL MEMBRANE PROTEIN, 24-KD; PMP24 Number Sign 616398 DYSTONIA 26, MYOCLONIC; DYT26 Number Sign 616399 BRUGADA SYNDROME 9; BRGDA9 Number Sign 616400 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2; FNEPPK2 Asterisk 616401 SPINDLE APPARATUS COILED-COIL PROTEIN 1; SPDL1 COILED-COIL DOMAIN-CONTAINING PROTEIN 99; CCDC99;; SPINDLY, DROSOPHILA, HOMOLOG OF Number Sign 616402 MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE; MCPH14 Asterisk 616403 TP53 TARGET GENE 1; TP53TG1 Asterisk 616404 POLYMERASE I, RNA, SUBUNIT A; POLR1A RNA POLYMERASE I, 194-KD SUBUNIT; RPA194 Asterisk 616405 ADAPTOR PROTEIN 2-ASSOCIATED KINASE 1; AAK1 AP2-ASSOCIATED KINASE 1;; KIAA1048 Asterisk 616406 PYRROLINE-5-CARBOXYLATE REDUCTASE 2; PYCR2 Percent 616407 BROWN SYNDROME; BRWNS Asterisk 616408 PYRROLINE-5-CARBOXYLATE REDUCTASE-LIKE; PYCRL PYRROLINE-5-CARBOXYLATE REDUCTASE 3; PYCR3 Number Sign 616409 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33; EIEE33 Number Sign 616410 SPINOCEREBELLAR ATAXIA 41; SCA41 Number Sign 616411 DYSTONIA 27; DYT27 Asterisk 616412 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 5; TXNDC5 ENDOPLASMIC RETICULUM PROTEIN, 46-KD; ERP46;; ENDOTHELIAL PROTEIN DISULFIDE ISOMERASE; ENDOPDI;; HEPATOCELLULAR CARCINOMA 2; HCC2 Number Sign 616413 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6 Number Sign 616414 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK Number Sign 616415 FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3 Asterisk 616416 ADHESION G PROTEIN-COUPLED RECEPTOR L1; ADGRL1 LATROPHILIN 1; LPHN1;; CALCIUM-INDEPENDENT ALPHA-LATROTOXIN RECEPTOR 1; CIRL1; CL1;; LECTOMEDIN 2; LEC2;; KIAA0821 Asterisk 616417 ADHESION G PROTEIN-COUPLED RECEPTOR L3; ADGRL3 LATROPHILIN 3; LPHN3;; CALCIUM-INDEPENDENT ALPHA-LATROTOXIN RECEPTOR 3; CIRL3; CL3;; LECTOMEDIN 3; LEC3;; KIAA0768 Number Sign 616418 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1; HOMGSMR1 HOMGSMR Asterisk 616419 ADHESION G PROTEIN-COUPLED RECEPTOR L4; ADGRL4 EGF-, TM7-, AND LATROPHILIN-RELATED PROTEIN; ETL;; EGF, LATROPHILIN, AND 7 TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; ELTD1 Number Sign 616420 LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10 Number Sign 616421 MYOCLONIC-ATONIC EPILEPSY; MAE Asterisk 616422 TRANSCRIPTION ELONGATION FACTOR, MITOCHONDRIAL; TEFM CHROMOSOME 17 OPEN READING FRAME 42; C17ORF42 Asterisk 616423 DEAH BOX POLYPEPTIDE 30; DHX30 DDX30;; RETINA COREPRESSOR; RETCOR;; KIAA0890 Asterisk 616424 SET DOMAIN-CONTAINING PROTEIN 6; SETD6 Number Sign 616425 46,XY SEX REVERSAL 10; SRXY10 CHROMOSOME 17q24 DELETION SYNDROME Asterisk 616426 CENTROSOMAL PROTEIN, 192-KD; CEP192 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 62; PPP1R62;; KIAA1569 Asterisk 616427 A-KINASE ANCHOR INHIBITOR 1; AKAIN1 CHROMOSOME 18 OPEN READING FRAME 42; C18ORF42 Number Sign 616428 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10; MCOPCB10 Asterisk 616429 SUSHI DOMAIN-CONTAINING PROTEIN 3; SUSD3 Number Sign 616430 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25; COXPD25 Asterisk 616431 GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE 2, MITOCHONDRIAL; GPAT2 Asterisk 616432 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 18; ARHGEF18 RHO-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR, 114-KD; p114RHOGEF;; KIAA0521 Number Sign 616433 IMMUNODEFICIENCY 40; IMD40 Asterisk 616434 INCREASED SODIUM TOLERANCE 1, YEAST, HOMOLOG OF; IST1 KIAA0174 Number Sign 616435 FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT Number Sign 616436 EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7 Number Sign 616437 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3 Asterisk 616438 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 8-LIKE 3; TNFAIP8L3 TNFAIP8-LIKE 3; TIPE3 Number Sign 616439 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4 Asterisk 616440 SOLUTE CARRIER FAMILY 32 (GABA VESICULAR TRANSPORTER), MEMBER 1; SLC32A1 VESICULAR GABA TRANSPORTER; VGAT;; VESICULAR INHIBITORY AMINO ACID TRANSPORTER; VIAAT Asterisk 616441 OVO-LIKE 2; OVOL2 OVO, DROSOPHILA, HOMOLOG OF, 2;; ZINC FINGER PROTEIN 339; ZNF339 Asterisk 616442 OVO-LIKE 3; OVOL3 OVO, DROSOPHILA, HOMOLOG OF, 3 Asterisk 616443 ZINC FINGER, MYM-TYPE 5; ZMYM5 ZINC FINGER PROTEIN 237; ZNF237;; ZINC FINGER PROTEIN 198-LIKE 1; ZNF198L1 Asterisk 616444 RNA-BINDING MOTIF PROTEIN 19; RBM19 KIAA0682 Number Sign 616445 CANDIDIASIS, FAMILIAL, 9; CANDF9 Asterisk 616446 CHROMOSOME 1 OPEN READING FRAME 177; C1ORF177 Asterisk 616447 KIAA1429 GENE; KIAA1429 VIRILIZER Asterisk 616448 RAS-ASSOCIATED PROTEIN RAB12; RAB12 Number Sign 616449 BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME; BVSYS Asterisk 616450 EF-HAND DOMAIN FAMILY, MEMBER D2; EFHD2 SWIPROSIN 1; SWS1 Number Sign 616451 SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE; SPG74 Number Sign 616452 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA Asterisk 616453 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 13; ZC3H13 KIAA0853 Asterisk 616454 ZINC FINGER PROTEIN 408; ZNF408 Number Sign 616455 ZIMMERMANN-LABAND SYNDROME 2; ZLS2 Asterisk 616456 INO80 COMPLEX, SUBUNIT B; INO80B PAP1-ASSOCIATED PROTEIN 1; PAPA1;; HMGA1-LIKE PROTEIN 4; HMGA1L4 Number Sign 616457 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50; EIEE50 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iz, FORMERLY; CDG1Z, FORMERLY Asterisk 616458 PR DOMAIN-CONTAINING PROTEIN 12; PRDM12 POSITIVE REGULATORY DOMAIN ZINC FINGER PROTEIN 12 Number Sign 616459 AL-RAQAD SYNDROME; ARS Number Sign 616460 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50; MRT50 Number Sign 616461 EPILEPSY, FAMILIAL TEMPORAL LOBE, 8; ETL8 Number Sign 616462 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN Asterisk 616463 ZINC FINGER PROTEIN 232; ZNF232 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 11; ZSCAN11 Asterisk 616464 ECDYSONELESS, DROSOPHILA, HOMOLOG OF; ECD SUPPRESSOR OF GCR2; SGT1 Asterisk 616465 VPS50, EARP/GARPII COMPLEX SUBUNIT; VPS50 COILED-COIL DOMAIN-CONTAINING PROTEIN 132; CCDC132;; SYNDETIN;; KIAA1861 Asterisk 616466 UNC5, C. ELEGANS, HOMOLOG OF, D; UNC5D UNC5H4 Asterisk 616467 DELETED IN PRIMARY CILIARY DYSKINESIA, MOUSE, HOMOLOG OF; DPCD Number Sign 616468 EXUDATIVE VITREORETINOPATHY 6; EVR6 Number Sign 616469 RETINITIS PIGMENTOSA 72; RP72 Number Sign 616470 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 Number Sign 616471 BETHLEM MYOPATHY 2; BTHLM2 EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE; EDSMYP;; EDS, MYOPATHIC TYPE Asterisk 616472 UBIQUITIN-ASSOCIATED PROTEIN 2-LIKE; UBAP2L NICE4;; KIAA0144 Asterisk 616473 MICRO RNA 558; MIR558 miRNA558 Asterisk 616474 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 26; ZSCAN26 SREZBP Asterisk 616475 CENTROSOMAL PROTEIN, 72-KD; CEP72 KIAA1519 Asterisk 616476 ATP/GTP-BINDING PROTEIN-LIKE 4; AGBL4 CYTOSOLIC CARBOXYPEPTIDASE 6; CCP6 Asterisk 616477 NUCLEAR RECEPTOR-BINDING FACTOR 2; NRBF2 COMODULATOR OF PPAR AND RXR; COPR Asterisk 616478 LEUCINE-RICH REPEATS- AND GUANYLATE KINASE DOMAIN-CONTAINING PROTEIN; LRGUK Number Sign 616479 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2; PEOB2 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 2 Asterisk 616480 KIAA1328 GENE; KIAA1328 HINDERIN Number Sign 616481 CILIARY DYSKINESIA, PRIMARY, 32; CILD32 CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS Number Sign 616482 ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN SADDAN DYSPLASIA Number Sign 616483 INFANTILE LIVER FAILURE SYNDROME 2; ILFS2 Asterisk 616484 TAX1-BINDING PROTEIN 3; TAX1BP3 TAX INTERACTION PROTEIN 1; TIP1 Asterisk 616485 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 21; ZBTB21 ZINC FINGER PROTEIN 295; ZNF295;; KIAA1227 Number Sign 616486 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15 Number Sign 616487 EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND Number Sign 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 HSAN VIII Number Sign 616489 GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF Number Sign 616490 JOUBERT SYNDROME 23; JBTS23 Number Sign 616491 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V Asterisk 616492 EWING SARCOMA-ASSOCIATED TRANSCRIPT 1, NONCODING; EWSAT1 LONG INTERGENIC NONCODING RNA 277; LINC00277 Asterisk 616493 FAMILY WITH SEQUENCE SIMILARITY 208, MEMBER A; FAM208A RB1-ASSOCIATED PROTEIN, 140-KD; RAP140;; TRANSGENE ACTIVATION SUPPRESSOR PROTEIN; TASOR;; CHROMOSOME 3 OPEN READING FRAME 63; C3ORF63;; KIAA1105 Number Sign 616494 LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11 Asterisk 616495 ADP-RIBOSYLATION FACTOR-LIKE 6-INTERACTING PROTEIN 6; ARL6IP6 ARL6-INTERACTING PROTEIN 6; AIP6 Asterisk 616496 NUCLEAR ENVELOPE INTEGRAL MEMBRANE PROTEIN 1; NEMP1 TRANSMEMBRANE PROTEIN 194A; TMEM194A Asterisk 616497 NUCLEAR ENVELOPE INTEGRAL MEMBRANE PROTEIN 2; NEMP2 TRANSMEMBRANE PROTEIN 194B; TMEM194B Asterisk 616498 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER C; FAM134C Asterisk 616499 TRANSMEMBRANE PROTEIN 203; TMEM203 Number Sign 616500 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3; CEMCOX3 Number Sign 616501 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4 Number Sign 616502 CONE-ROD DYSTROPHY 21; CORD21 RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT Number Sign 616503 LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9 Asterisk 616504 METHYLTRANSFERASE-LIKE 14; METTL14 KIAA1627 Number Sign 616505 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; HMSN6B HMSN VIB;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6B; CMT6B Asterisk 616506 NEURON-DERIVED NEUROTROPHIC FACTOR; NDNF CHROMOSOME 4 OPEN READING FRAME 31; C4ORF31;; EPIDERMACAN;; NORD, DROSOPHILA, HOMOLOG OF; NORD Number Sign 616507 OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17 Asterisk 616508 SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER), MEMBER 11; SLC39A11 ZRT- AND IRT-LIKE PROTEIN 11; ZIP11;; CHROMOSOME 17 OPEN READING FRAME 26; C17ORF26 Number Sign 616509 CATARACT 44; CTRCT44 CATARACT 44 AND HYPOTRICHOSIS Asterisk 616510 GLUCOSAMINE-PHOSPHATE N-ACETYLTRANSFERASE 1; GNPNAT1 GLUCOSAMINE-6-PHOSPHATE N-ACETYLTRANSFERASE 1; GNA1 Number Sign 616511 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14; MODY14 Asterisk 616512 RING FINGER PROTEIN 152; RNF152 Asterisk 616513 La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 4B; LARP4B La-RELATED PROTEIN 4B;; La RIBONUCLEOPROTEIN DOMAIN FAMILY, MEMBER 5; LARP5;; La-RELATED PROTEIN 5;; KIAA0217 Asterisk 616514 FAMILY WITH SEQUENCE SIMILARITY 195, MEMBER B; FAM195B MAPK-REGULATED COREPRESSOR-INTERACTING PROTEIN 1; MCRIP1 Number Sign 616515 DEAFNESS, AUTOSOMAL RECESSIVE 104; DFNB104 Number Sign 616516 EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3 Number Sign 616517 ACHROMATOPSIA 7; ACHM7 Asterisk 616518 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 6; SLC38A6 SODIUM-COUPLED AMINO ACID TRANSPORTER 6; SNAT6 Asterisk 616519 PHOSPHODIESTERASE 12; PDE12 PDE, 2-PRIME Asterisk 616520 ADENOSYLHOMOCYSTEINASE-LIKE 2; AHCYL2 S-ADENOSYL-L-HOMOCYSTEINE HYDROLASE 3;; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR 1-BINDING PROTEIN RELEASED WITH INOSITOL 1,4,5-TRISPHOSPHATE 2; IRBIT2;; ITPR1-BINDING PROTEIN RELEASED WITH IP3 2;; IRBIT, LONG;; KIAA0828 Number Sign 616521 MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39 MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, AND OBESITY CHROMOSOME 2p25.3 DELETION SYNDROME, INCLUDED;; CHROMOSOME 2p25.3 DUPLICATION SYNDROME, INCLUDED Asterisk 616522 DCN1 DOMAIN-CONTAINING PROTEIN 5; DCUN1D5 SQUAMOUS CELL CARCINOMA-RELATED ONCOGENE 5; SCCRO5 Asterisk 616523 MICROFIBRILLAR-ASSOCIATED PROTEIN 3-LIKE; MFAP3L KIAA0626 Asterisk 616524 TRANSMEMBRANE PROTEIN 139; TMEM139 Asterisk 616525 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 10; SLC38A10 Asterisk 616526 SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 11; SLC38A11 Asterisk 616527 SWI5-DEPENDENT HOMOLOGOUS RECOMBINATION REPAIR PROTEIN 1; SFR1 SFR1, S. POMBE, HOMOLOG OF;; MEIOSIS PROTEIN 5, S. CEREVISIAE, HOMOLOG OF; MEI5;; CHROMOSOME 10 OPEN READING FRAME 78; C10ORF78 Asterisk 616528 SWI5 HOMOLOGOUS RECOMBINATION REPAIR PROTEIN; SWI5 SWI5, S. POMBE, HOMOLOG OF;; SAE3, S. CEREVISIAE, HOMOLOG OF; SAE3;; CHROMOSOME 9 OPEN READING FRAME 119; C9ORF119 Asterisk 616529 YTH N6-METHYLADENOSINE RNA-BINDING PROTEIN 1; YTHDF1 YTH DOMAIN FAMILY, MEMBER 1 Asterisk 616530 YTH DOMAIN-CONTAINING PROTEIN 2; YTHDC2 CYCLOSPORIN A-ASSOCIATED HELICASE-LIKE PROTEIN; CAHL Number Sign 616531 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA Number Sign 616532 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5 Asterisk 616533 DEAD BOX POLYPEPTIDE 31; DDX31 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 25; PPP1R25 Number Sign 616534 THYROID CANCER, NONMEDULLARY, 4; NMTC4 Number Sign 616535 THYROID CANCER, NONMEDULLARY, 5; NMTC5 Asterisk 616536 CYSTATIN 9-LIKE; CST9L TESTATIN Asterisk 616537 V-SET AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 2-LIKE; VSTM2L VSTM2-LIKE;; CHROMOSOME 20 OPEN READING FRAME 102; C20ORF102 Number Sign 616538 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED Number Sign 616539 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26 Number Sign 616540 EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9 Number Sign 616541 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED Asterisk 616542 GS HOMEOBOX 1; GSX1 GENOMIC-SCREENED HOMEOBOX 1; GSH1 Asterisk 616543 CYSTATIN 9; CST9 CYSTATIN-LIKE MOLECULE; CLM Number Sign 616544 RETINITIS PIGMENTOSA 73; RP73 Asterisk 616545 PRELI DOMAIN-CONTAINING PROTEIN 3A; PRELID3A PRELI;; SLOWMO, DROSOPHILA, HOMOLOG OF, 1; SLMO1;; CHROMOSOME 18 OPEN READING FRAME 43; C18ORF43 Number Sign 616546 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14 Asterisk 616547 LYSOZYME G-LIKE 2; LYG2 LYSG2 Asterisk 616548 LYSOPHOSPHOLIPASE-LIKE 1; LYPLAL1 Number Sign 616549 KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM; KFS4 Asterisk 616550 TRANSMEMBRANE PROTEIN 120A; TMEM120A TRANSMEMBRANE PROTEIN INDUCED BY TUMOR NECROSIS FACTOR-ALPHA; TMPIT;; NUCLEAR ENVELOPE TRANSMEMBRANE PROTEIN 29; NET29 Asterisk 616551 TRANSMEMBRANE PROTEIN 120B; TMEM120B Asterisk 616552 CARNOSINE N-METHYLTRANSFERASE 1; CARNMT1 CHROMOSOME 9 OPEN READING FRAME 41; C9ORF41;; UPF0586 Number Sign 616553 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, INCLUDED; DKCB7, INCLUDED Asterisk 616554 SPERM-ASSOCIATED ANTIGEN 17; SPAG17 PF6, CHLAMYDOMONAS, HOMOLOG OF; PF6 Asterisk 616555 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A; LRRC37A Asterisk 616556 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A2; LRRC37A2 Asterisk 616557 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A3; LRRC37A3 Asterisk 616558 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37B; LRRC37B Number Sign 616559 NOONAN SYNDROME 9; NS9 Asterisk 616560 CD300H ANTIGEN CD300H;; CD300C-LIKE MOLECULE Asterisk 616561 RAS PROTEIN ACTIVATOR-LIKE 3; RASAL3 Number Sign 616562 RETINITIS PIGMENTOSA 74; RP74 Asterisk 616563 STE20-LIKE PROTEIN KINASE; SLK LONG STE20-LIKE PROTEIN KINASE; LOSK;; KIAA0204 Number Sign 616564 NOONAN SYNDROME 10; NS10 Asterisk 616565 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 30B; ANKRD30B BREAST CANCER ANTIGEN NY-BR-1.1 Number Sign 616566 SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE; SCDO6 Asterisk 616567 DEATH-ASSOCIATED PROTEIN KINASE 2; DAPK2 DAP KINASE-RELATED PROTEIN 1; DRP1 Number Sign 616568 GLIOMA SUSCEPTIBILITY 9; GLM9 Asterisk 616569 CYSTEINE SULFINIC ACID DECARBOXYLASE; CSAD CSD;; P-SELECTIN CYTOPLASMIC TAIL-ASSOCIATED PROTEIN; PCAP Number Sign 616570 CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3 Asterisk 616571 C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER A; CLEC18A Asterisk 616572 C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER B; CLEC18B Asterisk 616573 C-TYPE LECTIN DOMAIN FAMILY 18, MEMBER C; CLEC18C Asterisk 616574 MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 10-KD SUBUNIT; MICOS10 MITOCHONDRIAL INNER MEMBRANE ORGANIZING SYSTEM PROTEIN 1; MINOS1;; MICOS PROTEIN 1;; MIO10, YEAST, HOMOLOG OF; MIO10;; MIC10;; MICOS COMPLEX, 10-KD SUBUNIT;; CHROMOSOME 1 OPEN READING FRAME 51; C1ORF51 Asterisk 616575 LEUKOCYTE RECEPTOR CLUSTER GENE 8; LENG8 KIAA1932 Number Sign 616576 IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 NFKB1 DEFICIENCY Number Sign 616577 EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS Asterisk 616578 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 1; ZBTB1 Number Sign 616579 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 Number Sign 616580 AU-KLINE SYNDROME; AUKS Asterisk 616581 LYSINE-SPECIFIC DEMETHYLASE 4E; KDM4E JUMONJI DOMAIN-CONTAINING PROTEIN 2E; JMJD2E Asterisk 616582 LIPOLYSIS-STIMULATED LIPOPROTEIN RECEPTOR; LSR IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 3; ILDR3 Number Sign 616583 SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE; SEDSTN SED, STANESCU TYPE Asterisk 616584 SPERMATOGENESIS-ASSOCIATED PROTEIN 31, SUBFAMILY A, MEMBER 7; SPATA31A7 ACROSOME-EXPRESSED PROTEIN 1; AEP1;; FAMILY WITH SEQUENCE SIMILARITY 75, MEMBER A7; FAM75A7;; CHROMOSOME 9 OPEN READING FRAME 36; C9ORF36;; VAD1.3 Asterisk 616585 RING FINGER- AND SPRY DOMAIN-CONTAINING PROTEIN 1; RSPRY1 KIAA1972 Number Sign 616586 SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B Asterisk 616587 FAMILY WITH SEQUENCE SIMILARITY 118, MEMBER B; FAM118B Asterisk 616588 DIHYDROFOLATE REDUCTASE-LIKE 1; DHFRL1 DIHYDROFOLATE REDUCTASE PSEUDOGENE 4, FORMERLY; DHFRP4, FORMERLY Number Sign 616589 ADAMS-OLIVER SYNDROME 6; AOS6 Asterisk 616590 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 5; ZBTB5 KIAA0354 Asterisk 616591 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 7C; ZBTB7C AFFECTED BY PAPILLOMAVIRUS DNA INTEGRATION IN ME180 CELLS; APM1 Number Sign 616592 KOSAKI OVERGROWTH SYNDROME; KOGS SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION Asterisk 616593 FAMILY WITH SEQUENCE SIMILARITY 132, MEMBER A; FAM132A C1q DOMAIN-CONTAINING PROTEIN 2; C1QDC2;; C1q- AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 12; CTRP12; C1QTNF12;; ADIPOSE-DERIVED INSULIN-SENSITIZING FACTOR;; ADIPOLIN Asterisk 616594 ARF GTPase-ACTIVATING PROTEIN WITH SH3 DOMAIN, ANKYRIN REPEAT, AND PH DOMAIN 3; ASAP3 UPREGULATED IN LIVER CANCER 1; UPLC1;; CENTAURIN, BETA-6; CENTB6;; DEVELOPMENT- AND DIFFERENTIATION-ENHANCING FACTOR-LIKE 1; DDEFL1;; ARF GTPase-ACTIVATING PROTEIN WITH COILED-COIL, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAINS 4; ACAP4 Asterisk 616595 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 2; ZBTB2 ZINC FINGER PROTEIN 437; ZNF437;; KIAA1483 Asterisk 616596 ADP-RIBOSYLATION FACTOR-LIKE 8B; ARL8B SMALL G PROTEIN INDISPENSABLE FOR EQUAL CHROMOSOME SEGREGATION 1; GIE1 Asterisk 616597 ADP-RIBOSYLATION FACTOR-LIKE 8A; ARL8A SMALL G PROTEIN INDISPENSABLE FOR EQUAL CHROMOSOME SEGREGATION 2; GIE2 Asterisk 616598 BLOC1-RELATED COMPLEX, SUBUNIT 5; BORCS5 BORC, SUBUNIT 5;; LOSS OF HETEROZYGOSITY, CHROMOSOME 12, REGION 1; LOH12CR1;; MYRISTOYLATED LYSOSOMAL PROTEIN; MYRLYSIN Asterisk 616599 BLOC1-RELATED COMPLEX, SUBUNIT 6; BORCS6 BORC, SUBUNIT 6;; CHROMOSOME 17 OPEN READING FRAME 59; C17ORF59;; LYSOSOME-DISPERSING PROTEIN; LYSPERSIN Asterisk 616600 BLOC1-RELATED COMPLEX, SUBUNIT 7; BORCS7 BORC, SUBUNIT 7;; CHROMOSOME 10 OPEN READING FRAME 32; C10ORF32;; DIASKEDIN Asterisk 616601 BLOC1-RELATED COMPLEX, SUBUNIT 8; BORCS8 BORC, SUBUNIT 8;; MEF2B NEIGHBOR GENE; MEF2BNB Number Sign 616602 CRANIOSYNOSTOSIS 6; CRS6 Number Sign 616603 CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3 Number Sign 616604 CHROMOSOME 14q32 DUPLICATION SYNDROME, 700-KB MYELOPROLIFERATIVE NEOPLASMS, FAMILIAL, SUSCEPTIBILITY TO Asterisk 616605 GSK3B-INTERACTING PROTEIN; GSKIP CHROMOSOME 14 OPEN READING FRAME 129; C14ORF129 Number Sign 616606 RING CHROMOSOME 14 SYNDROME Asterisk 616607 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 8; KBTBD8 T-CELL ACTIVATION KELCH REPEAT PROTEIN; TAKRP;; KIAA1842 Asterisk 616608 CHROMOSOME 5 OPEN READING FRAME 30; C5ORF30 Asterisk 616609 TRANSMEMBRANE PROTEIN 65; TMEM65 Asterisk 616610 CANCER SUSCEPTIBILITY CANDIDATE 15, NONCODING; CASC15 LONG INTERGENIC NONCODING RNA 340: LINC00340;; lincRNA 340 Asterisk 616611 LONG INTERGENIC NONCODING RNA 461; LINC00461 lincRNA 461;; VISUAL CORTEX-EXPRESSED GENE; VISC Asterisk 616612 COLLAGEN, TYPE VI, ALPHA-4, PSEUDOGENE 2; COL6A4P2 Asterisk 616613 COLLAGEN, TYPE VI, ALPHA-6; COL6A6 Asterisk 616614 HISTONE PARYLATION FACTOR 1; HPF1 CHROMOSOME 4 OPEN READING FRAME 27; C4ORF27 Asterisk 616615 CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 1; CSGALNACT1 Asterisk 616616 CHONDROITIN SULFATE N-ACETYLGALACTOSAMINYLTRANSFERASE 2; CSGALNACT2 Number Sign 616617 HEIMLER SYNDROME 2; HMLR2 PEROXISOME BIOGENESIS DISORDER 4C; PBD4C Asterisk 616618 ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 5; ACBD5 KIAA1996 Asterisk 616619 DPPA2 UPSTREAM-BINDING RNA, NONCODING; DUBR DPPA2 UPSTREAM-BINDING MUSCLE LONG NONCODING RNA; DUM;; LONG INTERGENIC NONCODING RNA 883; LINC0883;; lincRNA 883 Asterisk 616620 WD REPEAT-CONTAINING PROTEIN 12; WDR12 Asterisk 616621 DEAD BOX POLYPEPTIDE 27; DDX27 DEAD/H BOX POLYPEPTIDE 27;; RNA HELICASE-LIKE PROTEIN; RHLP Number Sign 616622 IMMUNODEFICIENCY 42; IMD42 Asterisk 616623 FAMILY WITH SEQUENCE SIMILARITY 30, MEMBER A; FAM30A KIAA0125;; CHROMOSOME 14 OPEN READING FRAME 110; C14ORF110 Asterisk 616624 NUCLEAR CAP-BINDING PROTEIN 3; NCBP3 CHROMOSOME 17 OPEN READING FRAME 85; C17ORF85 Number Sign 616625 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W; CMT2W CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W Asterisk 616626 CEREBRAL ENDOTHELIAL CELL ADHESION MOLECULE; CERCAM CEECAM;; GLYCOSYLTRANSFERASE 25 FAMILY, MEMBER 3 Asterisk 616627 PODOCALYXIN-LIKE 2; PODXL2 ENDOGLYCAN; EG Asterisk 616628 FAMILY WITH SEQUENCE SIMILARITY 220, MEMBER A; FAM220A STAT3-INTERACTING PROTEIN AS A REPRESSOR; SIPAR;; ACROSOMAL PROTEIN 1; ACPIN1;; CHROMOSOME 7 OPEN READING FRAME 70; C7ORF70 SALIVARY GLAND-SPECIFIC PROTEIN 1, INCLUDED; SAGSIN1, INCLUDED Number Sign 616629 SENIOR-LOKEN SYNDROME 9; SLSN9 Asterisk 616630 NEURENSIN 1; NRSN1 VESICULAR MEMBRANE PROTEIN; VMP Number Sign 616631 POROKERATOSIS 9, MULTIPLE TYPES; POROK9 Number Sign 616632 SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS Asterisk 616633 PROLINE-RICH PROTEIN 12; PRR12 KIAA1205 Asterisk 616634 SUSHI, NIDOGEN, AND EGF-LIKE DOMAINS PROTEIN 1; SNED1 STROMAL NIDOGEN EXTRACELLULAR MATRIX PROTEIN; SNEP Asterisk 616635 CYSTEINE- AND HISTIDINE-RICH PROTEIN 1; CYHR1 CHRP;; KIAA0496 Number Sign 616636 IMMUNODEFICIENCY 44; IMD44 Asterisk 616637 TBC1 DOMAIN FAMILY, MEMBER 16; TBC1D16 Number Sign 616638 SMITH-KINGSMORE SYNDROME; SKS MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME;; MINDS SYNDROME;; MACROCEPHALY, SEIZURES, MENTAL RETARDATION, UMBILICAL HERNIA, AND FACIAL DYSMORPHISM Asterisk 616639 PR DOMAIN-CONTAINING PROTEIN 8; PRDM8 Number Sign 616640 EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10 Asterisk 616641 RING FINGER PROTEIN 141; RNF141 ZINC FINGER PROTEIN 230; ZNF230;; ZFP2 Asterisk 616642 C6ORF89 GENE; C6ORF89 BOMBESIN RECEPTOR-ACTIVATED PROTEIN; BRAP;; AMFION Asterisk 616643 HEPATOMA-DERIVED GROWTH FACTOR-RELATED PROTEIN 3 HRP3;; HDGFRP3 Asterisk 616644 CUB AND ZONA PELLUCIDA-LIKE DOMAINS 1; CUZD1 ESTROGEN-REGULATED GENE; ERG1;; INTEGRAL MEMBRANE-ASSOCIATED PROTEIN 1; ITMAP1 Number Sign 616645 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34; EIEE34 Asterisk 616646 KERATIN 25, TYPE I; KRT25 K25; KRT25A; K25A;; KERATIN 25, INNER ROOT SHEATH, 1; KRT25IRS1; K25IRS1;; KA38;; K10C;; IRSA1 Number Sign 616647 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35; EIEE35 Percent 616648 OPTIC ATROPHY 8; OPA8 Number Sign 616649 SPHEROCYTOSIS, TYPE 2; SPH2 SPHEROCYTOSIS, HEREDITARY, 2; HS2 Asterisk 616650 KIAA0556 GENE; KIAA0556 KATANIN-INTERACTING PROTEIN; KATNIP Number Sign 616651 ROIFMAN SYNDROME; RFMN SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY Number Sign 616652 YUAN-HAREL-LUPSKI SYNDROME; YUHAL Asterisk 616653 PNN-INTERACTING SERINE/ARGININE-RICH PROTEIN; PNISR SERINE/ARGININE-RICH SPLICING REGULATORY PROTEIN, 130-KD; SRRP130;; SPLICING FACTOR, ARGININE/SERINE-RICH, 18; SFRS18 Number Sign 616654 JOUBERT SYNDROME 24; JBTS24 Asterisk 616655 SIPA1-LIKE PROTEIN 3; SIPA1L3 SPAL3;; SPAR3;; KIAA0545 Asterisk 616656 COMM DOMAIN-CONTAINING PROTEIN 8; COMMD8 COPPER METABOLISM MURR1 DOMAIN-CONTAINING PROTEIN 8 Number Sign 616657 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM Asterisk 616658 MITOCHONDRIAL CONTACT SITE AND CRISTAE ORGANIZING SYSTEM, 13-KD SUBUNIT; MICOS13 MIC13;; MICOS COMPLEX, 13-KD SUBUNIT;; QIL1;; CHROMOSOME 19 OPEN READING FRAME 70; C19ORF70 Asterisk 616659 TBC1 DOMAIN FAMILY, MEMBER 17; TBC1D17 Asterisk 616660 TRANSMEMBRANE PROTEIN 175: TMEM175 Asterisk 616661 MORC FAMILY CW-TYPE ZINC FINGER PROTEIN 2; MORC2 ZINC FINGER CW DOMAIN PROTEIN 3: ZCW3;; ZINC FINGER CW DOMAIN- AND COILED-COIL DOMAIN-CONTAINING PROTEIN 1; ZCWCC1;; MICRORCHIDIA, MOUSE, HOMOLOG OF, 2;; KIAA0852 Asterisk 616662 THUMP DOMAIN-CONTAINING PROTEIN 1; THUMPD1 TAN1, YEAST, HOMOLOG OF Asterisk 616663 SMALL NUCLEOLAR RNA, C/D BOX, 118; SNORD118 snoRNA, U8 Asterisk 616664 SMALL NUCLEOLAR RNA, C/D BOX, 13; SNORD13 snoRNA, U13 Asterisk 616665 SYNAPTOPHYSIN-LIKE 1; SYPL1 SYPL;; PANTOPHYSIN Asterisk 616666 SEIZURE-RELATED 6, MOUSE, HOMOLOG OF; SEZ6 BRAIN-SPECIFIC RECEPTOR-LIKE PROTEIN C; BSRPC Asterisk 616667 SEZ6-LIKE PROTEIN 2; SEZ6L2 BRAIN-SPECIFIC RECEPTOR-LIKE PROTEIN A; BSRPA Number Sign 616668 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X Number Sign 616669 IMMUNODEFICIENCY 45; IMD45 Asterisk 616670 EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 1; ESYT1 EXTENDED SYNAPTOTAGMIN 1;; MEMBRANE-BOUND C2 DOMAIN-CONTAINING PROTEIN; MBC2;; FAMILY WITH SEQUENCE SIMILARITY 62, MEMBER A; FAM62A Asterisk 616671 KERATIN 76, TYPE II; KRT76 K76;; K2P; KRT2P;; CYTOKERATIN 2P; CK2P;; KB9 Number Sign 616672 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27; COXPD27 Asterisk 616673 SPINDLE- AND KINETOCHORE-ASSOCIATED COMPLEX, SUBUNIT 1; SKA1 SPINDLE- AND KINETOCHORE-ASSOCIATED PROTEIN 1;; CHROMOSOME 18 OPEN READING FRAME 24; C18ORF24 Asterisk 616674 SPINDLE- AND KINETOCHORE-ASSOCIATED COMPLEX, SUBUNIT 2; SKA2 SPINDLE- AND KINETOCHORE-ASSOCIATED PROTEIN 2;; FAMILY WITH SEQUENCE SIMILARITY 33, MEMBER A; FAM33A Asterisk 616675 KERATIN 26, TYPE I; KRT26 K26;; KA39;; K10D;; KERATIN 25B; KRT25B; K25B;; KERATIN 25, INNER ROOT SHEATH, 2; KRT25IRS2; K25IRS2;; CYTOKERATIN 26; CK26 Asterisk 616676 KERATIN 27, TYPE I; KRT27 K27;; KRT25C; K25C;; KA40;; K10B;; KERATIN 25, INNER ROOT SHEATH, 3; KRT25IRS3; K25IRS3;; IRSA3.1;; CYTOKERATIN 27; CK27 Asterisk 616677 KERATIN 28, TYPE I; KRT28 K28;; KRT25D; K25D;; KA41;; KERATIN 25, INNER ROOT SHEATH, 4; KRT25IRS4; K25IRS4;; IRS1A2;; CYTOKERATIN 28; CK28 Asterisk 616678 KERATIN 39, TYPE I; KRT39 K39;; KA35;; CYTOKERATIN 39; CK39 Asterisk 616679 KERATIN 40, TYPE I; KRT40 K40;; KA36;; CYTOKERATIN 40; CK40 Number Sign 616680 SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75 Number Sign 616681 MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16 Number Sign 616682 SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME; SSMS Number Sign 616683 LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12 Number Sign 616684 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K;; CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K Number Sign 616685 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14 Asterisk 616686 SYNAPTOTAGMIN-BINDING CYTOPLASMIC RNA-INTERACTING PROTEIN; SYNCRIP NS1-ASSOCIATED PROTEIN 1; NSAP1;; GLYCINE-, ARGININE-, AND TYROSINE-RICH RNA-BINDING PROTEIN; GRYRBP;; HETEROGENOUS NUCLEAR RIBONUCLEOPROTEIN Q; HNRNPQ Number Sign 616687 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y; CMT2Y CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y Number Sign 616688 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z; CMT2Z CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z;; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z Number Sign 616689 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 XEROCYTOSIS GARDOS;; DESICCYTOSIS GARDOS Asterisk 616690 CENTROSOMAL PROTEIN, 104-KD; CEP104 GLYCINE-, GLUTAMATE-, AND THIENYLCYCLOHEXYLPIPERIDINE-BINDING PROTEIN; GLYBP;; FAP256, CHLAMYDOMONAS, HOMOLOG OF;; KIAA0562 Asterisk 616691 EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 2; ESYT2 EXTENDED SYNAPTOTAGMIN 2;; FAMILY WITH SEQUENCE SIMILARITY 62, MEMBER B; FAM62B Asterisk 616692 EXTENDED SYNAPTOTAGMIN-LIKE PROTEIN 3; ESYT3 EXTENDED SYNAPTOTAGMIN 3;; FAMILY WITH SEQUENCE SIMILARITY 62, MEMBER C; FAM62C Asterisk 616693 ACID-SENSING ION CHANNEL FAMILY MEMBER 5; ASIC5 HUMAN INTESTINE SODIUM CHANNEL; HINAC Asterisk 616694 KIAA0368 GENE; KIAA0368 ECM29, YEAST, HOMOLOG OF; ECM29 Asterisk 616695 SERINE/THREONINE/TYROSINE-INTERACTING PROTEIN-LIKE 1; STYXL1 STYX-LIKE 1;; MAP KINASE PHOSPHATASE-LIKE STYX DOMAIN PROTEIN; MKSTYX;; DUAL-SPECIFICITY PHOSPHATASE 24; DUSP24 Asterisk 616696 KIAA0040 GENE; KIAA0040 Number Sign 616697 DEAFNESS, AUTOSOMAL DOMINANT 69; DFNA69 DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC; DCUA Asterisk 616698 ZINC FINGER PROTEIN 593; ZNF593 ZINC FINGER PROTEIN T86; ZT86 Asterisk 616699 COMM DOMAIN-CONTAINING PROTEIN 2; COMMD2 Asterisk 616700 COMM DOMAIN-CONTAINING PROTEIN 3; COMMD3 Asterisk 616701 COMM DOMAIN-CONTAINING PROTEIN 4; COMMD4 Asterisk 616702 ZINC FINGER PROTEIN 589; ZNF589 STEM CELL ZINC FINGER PROTEIN 1; SZF1 Asterisk 616703 COMM DOMAIN-CONTAINING PROTEIN 7; COMMD7 Asterisk 616704 COMM DOMAIN-CONTAINING PROTEIN 10; COMMD10 Number Sign 616705 DEAFNESS, AUTOSOMAL RECESSIVE 97; DFNB97 Asterisk 616706 POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 11; PARP11 ARTD11 Number Sign 616707 DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68 Number Sign 616708 DESANTO-SHINAWI SYNDROME; DESSH DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES CHROMOSOME 10p12-p11 DELETION SYNDROME, INCLUDED Asterisk 616709 ALPHA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE; A4GNT Number Sign 616710 PARKINSON DISEASE 22, AUTOSOMAL DOMINANT; PARK22 Asterisk 616711 TAO KINASE 3; TAOK3 JNK/SAPK-INHIBITORY KINASE; JIK;; DENDRITIC CELL-DERIVED PROTEIN KINASE; DPK Asterisk 616712 START DOMAIN-CONTAINING PROTEIN 7; STARD7 GESTATIONAL TROPHOBLASTIC TUMOR PROTEIN 1; GTT1 Asterisk 616713 PIPECOLIC ACID OXIDASE; PIPOX Asterisk 616714 HMG-BOX TRANSCRIPTION FACTOR 1; HBP1 Asterisk 616715 THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 2; TMX2 Number Sign 616716 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5 Asterisk 616717 TESTIS-EXPRESSED GENE 10; TEX10 Asterisk 616718 NEURITE OUTGROWTH-ASSOCIATED PROTEIN; NGRN NEUGRIN Number Sign 616719 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, WITH HEPATOPATHY Number Sign 616720 MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19 Number Sign 616721 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N CDG IIn; CDGIIn Number Sign 616722 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT; RDICC Number Sign 616723 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PROGRESSIVE, WITH SHORT STATURE, FACIAL DYSMORPHISM, SHORT FOURTH METATARSALS, AND MENTAL RETARDATION, WITH OR WITHOUT CRANIOSYNOSTOSIS Number Sign 616724 TOOTH AGENESIS, SELECTIVE, 7; STHAG7 Asterisk 616725 DEAD BOX POLYPEPTIDE 60-LIKE; DDX60L Number Sign 616726 CILIARY DYSKINESIA, PRIMARY, 33; CILD33 CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS Asterisk 616727 PHD FINGER PROTEIN 21B; PHF21B PHF4;; BHC80L Number Sign 616728 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF Asterisk 616729 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY W, MEMBER 3; OR2W3 Number Sign 616730 NEPHROTIC SYNDROME, TYPE 11; NPHS11 Asterisk 616731 NEVER IN MITOSIS GENE A-RELATED KINASE 5; NEK5 NIMA-RELATED KINASE 5 Number Sign 616732 OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 Number Sign 616733 COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8 Number Sign 616734 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2 Asterisk 616735 COILED-COIL DOMAIN-CONTAINING PROTEIN 174: CCDC174 HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 212; HSPC212 Number Sign 616736 TREMOR, HEREDITARY ESSENTIAL, 5; ETM5 Number Sign 616737 TAKENOUCHI-KOSAKI SYNDROME; TKS MACROTHROMBOCYTOPENIA AND MENTAL RETARDATION SYNDROME Number Sign 616738 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 Number Sign 616739 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51; MRT51 Number Sign 616740 IMMUNODEFICIENCY 46; IMD46 Asterisk 616741 PR DOMAIN-CONTAINING PROTEIN 13; PRDM13 PR DOMAIN ZINC FINGER PROTEIN 13 Asterisk 616742 NOP58, S. CEREVISIAE, HOMOLOG OF; NOP58 NOP58 RIBONUCLEOPROTEIN;; NOP5, S. CEREVISIAE, HOMOLOG OF; NOP5 Asterisk 616743 RAL GUANINE NUCLEOTIDE DISSOCIATION STIMULATOR-LIKE 3; RGL3 Number Sign 616744 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL Asterisk 616745 BIORIENTATION OF CHROMOSOMES IN CELL DIVISION 1; BOD1 BIORIENTATION DEFECTIVE 1;; FAMILY WITH SEQUENCE SIMILARITY 44, MEMBER B; FAM44B Asterisk 616746 BOD1-LIKE PROTEIN 1; BOD1L1 BOD1L;; FAMILY WITH SEQUENCE SIMILARITY 4, MEMBER A; FAM44A Asterisk 616747 CHOLINE PHOSPHOTRANSFERASE 1; CHPT1 CPT; CPT1 Asterisk 616748 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 8; ENTPD8 ENTPDase 8 Number Sign 616749 HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7 Asterisk 616750 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 16; ZDHHC16 ABL-PHILIN 2; APH2 Asterisk 616751 CHOLINE/ETHANOLAMINE PHOSPHOTRANSFERASE 1; CEPT1 Asterisk 616752 HYPOTHALAMUS GOLGI APPARATUS-EXPRESSED PROTEIN, 19-KD HMP19;; NEURON-SPECIFIC GENE 2; NSG2 Asterisk 616753 ECTONUCLEOSIDE TRIPHOSPHATE DIPHOSPHOHYDROLASE 7; ENTPD7 LYSOSOMAL APYRASE-LIKE PROTEIN 1; LALP1 Number Sign 616754 BOMBAY PHENOTYPE PARA-BOMBAY PHENOTYPE, INCLUDED;; REUNION VARIANT, INCLUDED;; BOMBAY PHENOTYPE, DIGENIC, INCLUDED Asterisk 616755 TRIPARTITE MOTIF-CONTAINING PROTEIN 62; TRIM62 DUCTAL EPITHELIUM-ASSOCIATED RING PROTEIN, CHROMOSOME 1; DEAR1 Number Sign 616756 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES; SPPRS Asterisk 616757 TRANSMEMBRANE PROTEIN 150A; TMEM150A TRANSMEMBRANE PROTEIN 150; TMEM150;; TENTONIN 1; TTN1;; TM6P1 Asterisk 616758 KERATINOCYTE DIFFERENTIATION FACTOR 1; KDF1 CHROMOSOME 1 OPEN READING FRAME 172; C1ORF172 Asterisk 616759 NITRIC OXIDE SYNTHASE-INTERACTING PROTEIN; NOSIP Number Sign 616760 WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS Asterisk 616761 SUSHI DOMAIN-CONTAINING PROTEIN 6; SUSD6 DRUG-ACTIVATED GENE OVEREXPRESSED; DRAGO;; KIAA0247 Asterisk 616762 CENTRIOLE-, CILIA-, AND SPINDLE-ASSOCIATED PROTEIN; CCSAP CENTRIOLE- AND SPINDLE-ASSOCIATED PROTEIN; CSAP;; CHROMOSOME 10 OPEN READING FRAME 96; C1ORF96 Number Sign 616763 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD Asterisk 616764 SOLUTE CARRIER FAMILY 46, MEMBER 3; SLC46A3 Asterisk 616765 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 11; SAMD11 MAJOR RETINAL SAM DOMAIN PROTEIN; MR-S Asterisk 616766 THIOREDOXIN-RELATED TRANSMEMBRANE PROTEIN 4; TMX4 Asterisk 616767 CALPAIN, SMALL SUBUNIT 2; CAPNS2 CALCIUM-DEPENDENT PROTEASE SMALL SUBUNIT 2; CSS2 Asterisk 616768 TUBULIN, BETA-8; TUBB8 TUBULIN, BETA, CLASS VIII Asterisk 616769 NITRILASE FAMILY MEMBER 2; NIT2 Asterisk 616770 MICRO RNA 218-1; MIR218-1 miRNA218-1 Asterisk 616771 MICRO RNA 218-2; MIR218-2 miRNA218-2 Asterisk 616772 MANNOSIDASE, ALPHA, CLASS 1C, MEMBER 1; MAN1C1 Asterisk 616773 FAMILY WITH SEQUENCE SIMILARITY 73, MEMBER A; FAM73A MIGA, DROSOPHILA, HOMOLOG OF, 1; MIGA1;; MITOGUARDIN 1 Asterisk 616774 FAMILY WITH SEQUENCE SIMILARITY 73, MEMBER B; FAM73B MIGA, DROSOPHILA, HOMOLOG OF, 2; MIGA2;; MITOGUARDIN 2 Asterisk 616775 ZINC FINGER PROTEIN 683; ZNF683 HOMOLOG OF BLIMP1 IN T CELLS; HOBIT Asterisk 616776 DUAL-SPECIFICITY PHOSPHATASE 15; DUSP15 VH1-RELATED FAMILY, MEMBER Y; VHY Number Sign 616777 SECKEL SYNDROME 9; SCKL9 Asterisk 616778 DUAL-SPECIFICITY PHOSPHATASE 22; DUSP22 LOW MOLECULAR WEIGHT DUAL-SPECIFICITY PHOSPHATASE 2; LMWDSP2;; MITOGEN-ACTIVATED PROTEIN KINASE PHOSPHATASE X; MKPX;; VHR-RELATED MKPX; VHX;; JNK PATHWAY-ASSOCIATED PHOSPHATASE; JKAP;; JNK STIMULATORY PHOSPHATASE 1; JSP1 Number Sign 616779 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2 Number Sign 616780 OOCYTE MATURATION DEFECT 2; OOMD2 Number Sign 616781 JOUBERT SYNDROME 25; JBTS25 Asterisk 616782 GLUCOSAMINYL (N-ACETYL) TRANSFERASE 4, CORE 2; GCNT4 BETA-1,6-N-ACETYLGLUCOSAMINYLTRANSFERASE 4, CORE 2 Asterisk 616783 UBX DOMAIN PROTEIN 10; UBXN10 Number Sign 616784 JOUBERT SYNDROME 26; JBTS26 Asterisk 616785 PUTATIVE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PHTF2 Asterisk 616786 MITOGEN-ACTIVATED PROTEIN KINASE-BINDING PROTEIN 1; MAPKBP1 JNK-BINDING PROTEIN 1; JNKBP1 Asterisk 616787 CLUSTERIN-ASSOCIATED PROTEIN 1; CLUAP1 FLAGELLAR-ASSOCIATED PROTEIN 22, CHLAMYDOMONAS, HOMOLOG OF; FAP22;; DYF3, C. ELEGANS, HOMOLOG OF;; QILIN;; KIAA0643 Number Sign 616788 OROFACIAL CLEFT 15; OFC15 Number Sign 616789 MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD Asterisk 616790 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 4; PPP4R4 PP4R4;; KIAA1622 Asterisk 616791 PIGGYBAC TRANSPOSABLE ELEMENT-DERIVED GENE 5; PGBD5 PIGGYBAC DOMAIN-RELATED PROTEIN 5 Percent 616792 NEUROBLASTOMA, SUSCEPTIBILITY TO, 7; NBLST7 Asterisk 616793 PHOSPHOLIPASE A2, GROUP IIF; PLA2G2F PHOSPHOLIPASE A2, SECRETED, GROUP IIF;; SPLA2 IIF Number Sign 616794 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28 Number Sign 616795 SPINOCEREBELLAR ATAXIA 42; SCA42 Asterisk 616796 RETINOL DEHYDROGENASE 14; RDH14 SHORT-CHAIN DEHYDROGENASE/REDUCTASE FAMILY 7C, MEMBER 4; SDR7C4;; PANCREAS PROTEIN 2; PAN2 Asterisk 616797 EFR3, S. CEREVISIAE, HOMOLOG OF, B; EFR3B KIAA0953 Asterisk 616798 ZINC FINGER PROTEIN 28; ZFP28 Asterisk 616799 SYNAPTONEMAL COMPLEX PROTEIN 2-LIKE; SYCP2L SYCP2-LIKE;; CHROMOSOME 6 OPEN READING FRAME 177; C6ORF177 Asterisk 616800 LOXL1 ANTISENSE RNA 1, NONCODING; LOXL1AS1 LONG NONCODING RNA LOXL1AS1;; lncRNA LOXL1AS1 Number Sign 616801 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2 Asterisk 616802 T CELL-INTERACTING ACTIVATING RECEPTOR ON MYELOID CELLS 1; TARM1 Number Sign 616803 LAMB-SHAFFER SYNDROME; LAMSHF Asterisk 616804 V-SET AND TRANSMEMBRANE DOMAINS-CONTAINING PROTEIN 1; VSTM1 SIGNAL INHIBITORY RECEPTOR ON LEUKOCYTES 1; SIRL1 Asterisk 616805 MYC TARGET IN MYELOID CELLS 1; MYCT1 MYC TARGET PROTEIN 1;; MYC TARGET FROM LARYNGEAL CANCER CELLS; MTLC Number Sign 616806 WILMS TUMOR 6; WT6 WILMS TUMOR, SUSCEPTIBILITY TO Asterisk 616807 FAS-BINDING FACTOR 1; FBF1 ALBATROSS; ALB Asterisk 616808 CHROMOSOME 19 OPEN READING FRAME 66; C19ORF66 REPRESSOR FOR YIELD OF DENGUE VIRUS; RYDEN Number Sign 616809 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12; GPIBD12 Asterisk 616810 IMMUNOGLOBULIN SUPERFAMILY, DCC SUBCLASS, MEMBER 4; IGDCC4 NEIGHBOR OF PUNC E11; NOPE;; KIAA1628 Number Sign 616811 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29; COXPD29 Number Sign 616812 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25; LGMDR25 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X; LGMD2X;; CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE; CARICK Asterisk 616813 ARF GTPase-ACTIVATING PROTEIN WITH GTPase DOMAIN, ANKYRIN REPEAT, AND PLECKSTRIN HOMOLOGY DOMAIN 3; AGAP3 CENTAURIN, GAMMA-3; CENTG3 CRAM-ASSOCIATED GTPase, INCLUDED; CRAG, INCLUDED Number Sign 616814 PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1 PREMBL Asterisk 616815 TRANSMEMBRANE PROTEIN 199; TMEM199 VMA12, S. CEREVISIAE, HOMOLOG OF; VMA12;; VPH2, S. CEREVISIAE, HOMOLOG OF; VPH2;; CHROMOSOME 17 OPEN READING FRAME 32; C17ORF32 Number Sign 616816 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Number Sign 616817 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2 Number Sign 616818 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3; IGAN3 Number Sign 616819 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA BIRK-FLUSSER SYNDROME Asterisk 616820 METHENYLTETRAHYDROFOLATE SYNTHETASE DOMAIN-CONTAINING PROTEIN; MTHFSD MTHFS DOMAIN-CONTAINING PROTEIN Asterisk 616821 THROMBOSPONDIN TYPE 1 DOMAIN-CONTAINING PROTEIN 1; THSD1 TRANSMEMBRANE MOLECULE WITH THROMBOSPONDIN MODULE; TMTSP Asterisk 616822 MON2, S. CEREVISIAE, HOMOLOG OF; MON2 MON2, REGULATOR OF ENDOSOME-TO-GOLGI TRAFFICKING;; KIAA1040 Asterisk 616823 DOPEY FAMILY MEMBER 1; DOPEY1 DOP1;; KIAA1117 Asterisk 616824 TMF1-REGULATED NUCLEAR PROTEIN 1; TRNP1 TMF-REGULATED NUCLEAR PROTEIN; TRNP Asterisk 616825 NUCLEAR RECEPTOR COACTIVATOR 5; NCOA5 COACTIVATOR INDEPENDENT OF AF2; CIA Asterisk 616826 EPS15-LIKE PROTEIN 1; EPS15L1 EPS15-RELATED PROTEIN; EPS15R Number Sign 616827 MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE; MDRCMTT MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W; LGMD2W Number Sign 616828 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo; CDG2O CDG IIo; CDGIIo Number Sign 616829 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp; CDG2P CDG IIp; CDGIIp Asterisk 616830 TRANSPORT AND GOLGI ORGANIZATION 2, DROSOPHILA, HOMOLOG OF; TANGO2 CHROMOSOME 22 OPEN READING FRAME 25; C22ORF25 Number Sign 616831 LUSCAN-LUMISH SYNDROME; LLS Asterisk 616832 MYOMESIN 3; MYOM3 Number Sign 616833 PAGET DISEASE OF BONE 6; PDB6 Number Sign 616834 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS; MCCPD SC4MOL DEFICIENCY Number Sign 616835 MEIER-GORLIN SYNDROME 6; MGORS6 Asterisk 616836 G-PATCH DOMAIN-CONTAINING PROTEIN 2; GPATCH2 GPATC2 Asterisk 616837 HUMAN PLURIPOTENCY-ASSOCIATED TRANSCRIPT 5, NONCODING HPAT5;; LONG INTERGENIC NONCODING RNA HPAT5;; lincRNA HPAT5 Asterisk 616838 C-TYPE LECTIN DOMAIN FAMILY 17, MEMBER A; CLEC17A PROLECTIN Number Sign 616839 EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI Number Sign 616840 PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK23 Asterisk 616841 ZINC FINGER PROTEIN 468; ZNF468 Asterisk 616842 DNase1 HYPERSENSITIVITY, CHROMOSOME 6, SITE 1; DHS6S1 Number Sign 616843 LYMPHATIC MALFORMATION 6; LMPHM6 GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU;; LYMPHEDEMA, HEREDITARY, III, FORMERLY; LMPH3, FORMERLY Asterisk 616844 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 17; DNAJC17 Asterisk 616845 C-TYPE LECTIN DOMAIN FAMILY 14, MEMBER A; CLEC14A Asterisk 616846 ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 1; EMC1 ER MEMBRANE PROTEIN COMPLEX, SUBUNIT 1;; KIAA0090 Asterisk 616847 ZINC FINGER PROTEIN 543; ZNF543 Asterisk 616848 MESODERM INDUCTION-EARLY RESPONSE PROTEIN 1; MIER1 MIER1 TRANSCRIPTIONAL REGULATOR;; KIAA1610 Number Sign 616849 BRACHYDACTYLY, TYPE A1, D; BDA1D Asterisk 616850 WD REPEAT-CONTAINING PROTEIN 83; WDR83 MITOGEN-ACTIVATED PROTEIN KINASE ORGANIZER 1; MORG1;; MAPK ORGANIZER 1 Number Sign 616851 CATARACT 45; CTRCT45 Number Sign 616852 MYOPATHY, SCAPULOHUMEROPERONEAL; SHPM Asterisk 616853 FAMILY WITH SEQUENCE SIMILARITY 72, MEMBER C: FAM72C Number Sign 616854 EVEN-PLUS SYNDROME; EVPLS EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS Asterisk 616855 CYTOCHROME c OXIDASE, SUBUNIT 8C; COX8C CYTOCHROME c OXIDASE, SUBUNIT VIIIc;; COX VIII-3;; COX8-3 Asterisk 616856 BROMODOMAIN- AND PHD FINGER-CONTAINING PROTEIN 3; BRPF3 KIAA1286 Asterisk 616857 CHLORIDE CHANNEL ACCESSORY 4; CLCA4 CHLORIDE CHANNEL, CALCIUM-ACTIVATED, 4;; CALCIUM-ACTIVATED CHLORIDE CHANNEL 2; CACC2 Number Sign 616858 COWDEN SYNDROME 7; CWS7 Number Sign 616859 SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA; SPAHGC Number Sign 616860 ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY; SIDBA3 Asterisk 616861 SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 9; SLC12A9 CATION-CHLORIDE COTRANSPORTER-INTERACTING PROTEIN 1; CIP1;; CATION-CHLORIDE COTRANSPORTER 6; CCC6;; POTASSIUM-CHLORIDE TRANSPORTER 9 Asterisk 616862 RIBOSOMAL PROTEIN L34; RPL34 60S RIBOSOMAL PROTEIN 34 Number Sign 616863 CHROMOSOME 16p13.2 DELETION SYNDROME Asterisk 616864 HEXOSAMINIDASE (GLYCOSYL HYDROLASE FAMILY 20, CATALYTIC DOMAIN)-CONTAINING PROTEIN; HEXDC HEXOSAMINIDASE D Asterisk 616865 POLY(A) POLYMERASE, GAMMA; PAPOLG PAP-GAMMA;; SIGNAL RECOGNITION PARTICLE RNA-ADENYLATING ENZYME;; SRP RNA-ADENYLATING ENZYME;; NEO-PAP Number Sign 616866 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1 Number Sign 616867 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2 Number Sign 616868 DIARRHEA 8, SECRETORY SODIUM, CONGENITAL; DIAR8 DIARRHEA, CONGENITAL SODIUM; CSD Asterisk 616869 C-TERMINAL DOMAIN NUCLEAR ENVELOPE PHOSPHATASE 1 REGULATORY SUBUNIT 1; CNEP1R1 CTDNEP1 REGULATORY SUBUNIT 1;; NEP1R1;; TRANSMEMBRANE PROTEIN 188; TMEM188;; SPO7, S. CEREVISIAE, HOMOLOG OF;; CHROMOSOME 16 OPEN READING FRAME 69; C16ORF69 ENDOPLASMIC RETICULUM ADAPTOR PROTEIN, INCLUDED; ERADP, INCLUDED Asterisk 616870 TRANSMEMBRANE PROTEIN 14A; TMEM14A Number Sign 616871 MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO; MPLPF Asterisk 616872 TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 3; TM9SF3 SM11044-BINDING PROTEIN; SMBP Number Sign 616873 IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 Asterisk 616874 TRANSMEMBRANE BAX INHIBITOR MOTIF-CONTAINING PROTEIN 4; TMBIM4 GOLGI-ASSOCIATED ANTIAPOPTOTIC PROTEIN; GAAP Number Sign 616875 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR Asterisk 616876 TRANSMEMBRANE p24 TRAFFICKING PROTEIN 5; TMED5 TRANSMEMBRANE EMP24 PROTEIN TRANSPORT DOMAIN-CONTAINING PROTEIN 5;; p24, GAMMA-2;; p28 Asterisk 616877 TRANSMEMBRANE PROTEIN 9; TMEM9 TMEM9A;; DERMAL PAPILLA-DERIVED PROTEIN 4; DERM4 Number Sign 616878 METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN Asterisk 616879 TBC1 DOMAIN FAMILY, MEMBER 22A; TBC1D22A CHROMOSOME 22 OPEN READING FRAME 4; C22ORF4 Asterisk 616880 TBC1 DOMAIN FAMILY, MEMBER 22B; TBC1D22B CHROMOSOME 6 OPEN READING FRAME 197; C6ORF197 Number Sign 616881 LEUKODYSTROPHY, HYPOMYELINATING, 13; HLD13 Number Sign 616882 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3; FASPS3 Asterisk 616883 SIGNAL RECOGNITION PARTICLE RECEPTOR, BETA SUBUNIT; SRPRB SRP RECEPTOR, BETA SUBUNIT;; APMCF1 Asterisk 616884 UNC79, C. ELEGANS, HOMOLOG OF; UNC79 Asterisk 616885 CALCIUM-REGULATED HEAT-STABLE PROTEIN 1; CARHSP1 CALCIUM-REGULATED HEAT-STABLE PROTEIN, 24-KD; CRHSP24;; COLD-SHOCK DOMAIN-CONTAINING PROTEIN C1; CSDC1 Asterisk 616886 GSE1 COILED-COIL PROTEIN; GSE1 KIAA0182 Number Sign 616887 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52; MRT52 Asterisk 616888 TRANSMEMBRANE PROTEIN 8B; TMEM8B NASOPHARYNGEAL CANCER-RELATED GENE 6; NGX6;; NAG5 Asterisk 616889 CENTROSOMAL PROTEIN, 68-KD; CEP68 KIAA0582 Number Sign 616890 SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY; SFMMP Asterisk 616891 DWARF OPEN READING FRAME DWORF;; LOC100507537 Number Sign 616892 NEPHROTIC SYNDROME, TYPE 12; NPHS12 Number Sign 616893 NEPHROTIC SYNDROME, TYPE 13; NPHS13 Number Sign 616894 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 Asterisk 616895 SURVIVAL-ASSOCIATED MITOCHONDRIAL MELANOMA-SPECIFIC ONCOGENIC NONCODING RNA; SAMMSON LONG INTERGENIC NONCODING RNA 1212; LINC01212;; lincRNA 1212 Number Sign 616896 MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 Number Sign 616897 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE; OCLSBG Number Sign 616898 CHROMOSOME 15q14 DELETION SYNDROME Asterisk 616899 TBC1 DOMAIN-CONTAINING KINASE; TBCK Number Sign 616900 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3 Number Sign 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR; DEDSSH LOUCKS-INNES SYNDROME Number Sign 616902 CHROMOSOME 11p13 DELETION SYNDROME, DISTAL Number Sign 616903 THIOPURINES, POOR METABOLISM OF, 2; THPM2 NUDT15 DEFICIENCY Asterisk 616904 DEDICATOR OF CYTOKINESIS 5; DOCK5 Asterisk 616905 MORF4 FAMILY-ASSOCIATED PROTEIN 1; MRFAP1 PROTEIN ASSOCIATED WITH MRG, 14-KD; PAM14;; PGR1 Asterisk 616906 CANCER SUSCEPTIBILITY CANDIDATE 1; CASC1 LUNG ADENOMA SUSCEPTIBILITY GENE 1; LAS1;; PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 54; PPP1R54 Number Sign 616907 SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 Asterisk 616908 PATCHED DOMAIN-CONTAINING PROTEIN 4; PTCHD4 PATCHED PROTEIN, p53-REGULATED; PTCH53;; CHROMOSOME 6 OPEN READING FRAME 138; C6ORF138 Asterisk 616909 COILED-COIL DOMAIN-CONTAINING PROTEIN 68; CCDC68 SE57-1 Number Sign 616910 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3 Number Sign 616911 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4 Asterisk 616912 ENAH/VASP-LIKE PROTEIN; EVL Number Sign 616913 BLEEDING DISORDER, PLATELET-TYPE, 20; BDPLT20 Number Sign 616914 MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME; MFLS MARFAN LIPODYSTROPHY SYNDROME;; MARFANOID-PROGEROID SYNDROME;; MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME Asterisk 616915 ZEB1 ANTISENSE RNA 1, NONCODING; ZEB1AS1 LONG NONCODING RNA ZEB1AS1;; lncRNA ZEB1AS1 Asterisk 616916 SMALL ADP-RIBOSYLATION FACTOR GTPase-ACTIVATING PROTEIN 2; SMAP2 SMALL ARFGAP 2;; SMAP1-LIKE; SMAP1L Number Sign 616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13; GPIBD13 Asterisk 616918 PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS G PROTEIN; PIGG GPI7, S. CEREVISIAE, HOMOLOG OF; GPI7 Asterisk 616919 FERM AND PDZ DOMAINS-CONTAINING PROTEIN 1; FRMPD1 FERM DOMAIN-CONTAINING PROTEIN 2; FRMD2;; KIAA0967 Number Sign 616920 HEART AND BRAIN MALFORMATION SYNDROME; HBMS Number Sign 616921 DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET; IOLOD Number Sign 616922 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2; ADSD2 Asterisk 616923 RING FINGER PROTEIN 207; RNF207 CHROMOSOME 1 OPEN READING FRAME 188; C1ORF188 Number Sign 616924 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC Asterisk 616925 DDHRS4 ANTISENSE RNA 1, NONCODING; DHRS4AS1 LONG NONCODING RNA DHRS4AS1;; lncRNA DHRS4AS1;; AS1DHRS4;; CHROMOSOME 14 OPEN READING FRAME 167; C14ORF67 Asterisk 616926 FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 4; FXYD4 CHANNEL-INDUCING FACTOR; CHIF Asterisk 616927 EXOCYST COMPLEX COMPONENT 3-LIKE 2; EXOC3L2 EXOC3-LIKE 2;; HEPATITIS B VIRUS X ANTIGEN-TRANSACTIVATED GENE 7;; HBV X-TRANSACTIVATED PROTEIN 7; XTP7 Asterisk 616928 TRANSMEMBRANE PROTEIN 45A; TMEM45A DERMAL PAPILLA-DERIVED PROTEIN 7; DERP7;; DNA POLYMERASE-TRANSACTIVATED PROTEIN 4; DNAPTP4 Asterisk 616929 TRANSCRIPTION TERMINATION FACTOR 2, MITOCHONDRIAL; MTERF2 MTERF-LIKE; MTERFL;; MTERFD3 Asterisk 616930 TRANSCRIPTION TERMINATION FACTOR 3, MITOCHONDRIAL; MTERF3 MTERFD1 Asterisk 616931 FUCOSYLTRANSFERASE 10; FUT10 FUCTX Asterisk 616932 FUCOSYLTRANSFERASE 11; FUT11 FUCTXI Asterisk 616933 FORTY-TWO-THREE DOMAIN-CONTAINING PROTEIN 1; FYTTD1 UAP56-INTERACTING FACTOR; UIF Asterisk 616934 MEIOSIS-SPECIFIC PROTEIN WITH COILED-COIL DOMAIN; MEIOC CHROMOSOME 17 OPEN READING FRAME 104; C17ORF104 Asterisk 616935 FAS-ASSOCIATED FACTOR FAMILY, MEMBER 2; FAF2 FAF FAMILY, MEMBER 2;; EXPRESSED IN T CELLS AND EOSINOPHILS IN ATOPIC DERMATITIS; ETEA;; UBX DOMAIN-CONTAINING PROTEIN 8; UBXD8;; KIAA0887 Asterisk 616936 CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 9; CHD9 CHROMATIN-RELATED MESENCHYMAL MODULATOR; CREMM;; PPARA-INTERACTING COFACTOR COMPLEX COMPONENT, 320-KD; PRIC320;; PRIC COMPLEX, 320-KD COMPONENT;; KIAA0308 Number Sign 616937 THROMBOCYTOPENIA 6; THC6 THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 6 Number Sign 616938 COFFIN-SIRIS SYNDROME 5; CSS5 Number Sign 616939 CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION; COCPMR Asterisk 616940 EXONUCLEASE 3-PRIME-TO-5-PRIME DOMAIN-CONTAINING PROTEIN 2; EXD2 EXDL2 Number Sign 616941 AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8 AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT Asterisk 616942 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 5; PDIA5 PROTEIN DISULFIDE ISOMERASE-RELATED PROTEIN; PDIR Number Sign 616943 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6 Number Sign 616944 MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41 Asterisk 616945 CLAVESIN 2; CLVS2 CLATHRIN VESICLE-ASSOCIATED SEC14 PROTEIN 2 Number Sign 616946 PREMATURE OVARIAN FAILURE 11; POF11 Number Sign 616947 PREMATURE OVARIAN FAILURE 12; POF12 Number Sign 616948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22 Number Sign 616949 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23; SCAR23 Number Sign 616950 SPERMATOGENIC FAILURE 15; SPGF15 Asterisk 616951 METASTASIS SUPPRESSOR 1-LIKE PROTEIN; MTSS1L ACTIN-BUNDLING PROTEIN WITH BAIAP2 HOMOLOGY 1; ABBA1;; ABBA Asterisk 616952 MITOCHONDRIAL CALCIUM UNIPORTER REGULATOR 1; MCUR1 COILED-COIL DOMAIN-CONTAINING PROTEIN 90A; CCDC90A;; FMP32, S. CEREVISIAE, HOMOLOG OF; FMP32 Asterisk 616953 CutA, E. COLI, HOMOLOG OF; CUTA DIVALENT CATION TOLERANCE PROTEIN CUTA;; ACETYLCHOLINESTERASE-ASSOCIATED PROTEIN; ACHAP;; CHROMOSOME 6 OPEN READING FRAME 82; C6ORF82 Number Sign 616954 YOU-HOOVER-FONG SYNDROME; YHFS Asterisk 616955 RRAD- AND GEM-LIKE GTPase 2; REM2 RAD- AND GEM-LIKE GTP-BINDING PROTEIN 2;; REM-, RAD-, AND GEM-RELATED PROTEIN 2 Asterisk 616956 TUBULIN POLYMERIZATION-PROMOTING PROTEIN FAMILY, MEMBER 2; TPPP2 TPPP FAMILY, MEMBER 2;; p18 Asterisk 616957 TUBULIN POLYMERIZATION-PROMOTING PROTEIN FAMILY, MEMBER 3; TPPP3 TPPP FAMILY, MEMBER 3;; p20 Caret 616958 MOVED TO 608653 Number Sign 616959 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM Asterisk 616960 GTPase, IMAP FAMILY, MEMBER 6; GIMAP6 GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 6 Asterisk 616961 GTPase, IMAP FAMILY, MEMBER 7; GIMAP7 GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 7 Asterisk 616962 GTPase, IMAP FAMILY, MEMBER 8; GIMAP8 GTPase, IMMUNITY-ASSOCIATED PROTEIN FAMILY, MEMBER 8 Number Sign 616963 HYPERCALCEMIA, INFANTILE, 2; HCINF2 Caret 616964 MOVED TO 615225 Asterisk 616965 ADHESION G PROTEIN-COUPLED RECEPTOR G5; ADGRG5 G PROTEIN-COUPLED RECEPTOR 114; GPR114 Asterisk 616966 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 6; ABHD6 ALPHA/BETA-HYDROLASE DOMAIN-CONTAINING PROTEIN 6 Asterisk 616967 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 17; TXNDC17 THIOREDOXIN-RELATED PROTEIN, 14-KD; TRP14;; THIOREDOXIN-LIKE PROTEIN 5; TXNL5 Number Sign 616968 DEAFNESS, AUTOSOMAL DOMINANT 70; DFNA70 Number Sign 616969 DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66 Asterisk 616970 MARVEL DOMAIN-CONTAINING PROTEIN 1; MARVELD1 MRVLDC1; MARVD1 Asterisk 616971 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 3; ERGIC3 ERGIC AND GOLGI PROTEIN 3;; ENDOPLASMIC RETICULUM-ASSOCIATED PROTEIN, 43-KD; ERP43 BREAST CANCER ANTIGEN NY-BR-84;; CHROMOSOME 20 OPEN READING FRAME 47; C20ORF47 Asterisk 616972 MICRO RNA 490; MIR490 miRNA490 Number Sign 616973 MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42 Number Sign 616974 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30; COXPD30 Number Sign 616975 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH Asterisk 616976 TRIPARTITE MOTIF-CONTAINING PROTEIN 40; TRIM40 RING FINGER PROTEIN 35; RNF35 Number Sign 616977 MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43 Asterisk 616978 COILED COIL-HELIX-COILED COIL-HELIX DOMAIN-CONTAINING PROTEIN 5; CHCHD5 MITOCHONDRIAL INTERMEMBRANE SPACE CYSTEINE MOTIF PROTEIN, 14-KD; MIC14 Asterisk 616979 DEATH DOMAIN-CONTAINING PROTEIN 1; DTHD1 Asterisk 616980 CELL CYCLE REGULATOR OF NONHOMOLOGOUS END JOINING; CYREN CHROMOSOME 7 OPEN READING FRAME 49; C7ORF49;; MODULATOR OF RETROVIRUS INFECTION; MRI Number Sign 616981 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37 Asterisk 616982 PR DOMAIN-CONTAINING PROTEIN 6; PRDM6 PR DOMAIN-CONTAINING PROTEIN IN SMOOTH MUSCLE; PRISM Asterisk 616983 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 6; ENPP6 NPP6;; GLYCEROPHOSPHOCHOLINE CHOLINEPHOSPHODIESTERASE;; CHOLINE-SPECIFIC GLYCEROPHOSPHODIESTER PHOSPHODIESTERASE Asterisk 616984 NEUROPEPTIDE VF PRECURSOR; NPVF RF-AMIDE-RELATED PEPTIDE PRECURSOR; RFRP;; CHROMOSOME 7 OPEN READING FAME 9; C7ORF9 Asterisk 616985 MTRNR2-LIKE 1; MTRNR2L1 HUMANIN-LIKE 1; HN1 Asterisk 616986 LONG INTERGENIC NONCODING RNA AC011288.2 lincRNA AC011288.2;; LOC105375159 Asterisk 616987 CHROMOSOME 6 OPEN READING FRAME 120; C6ORF120 Asterisk 616988 CHRONIC LYMPHOCYTIC LEUKEMIA UPREGULATED GENE 1; CLLU1 Asterisk 616989 CHRONIC LYMPHOCYTIC LEUKEMIA UPREGULATED 1, OPPOSITE STRAND; CLLU1OS Asterisk 616990 CLUSTERIN-LIKE PROTEIN 1; CLUL1 Asterisk 616991 MUCIN 21, CELL SURFACE-ASSOCIATED; MUC21 EPIGLYCANIN;; CHROMOSOME 6 OPEN READING FRAME 205; C6ORF205 Asterisk 616992 CHROMOSOME 8 OPEN READING FRAME 17; C8ORF17 MOLT-4 SEQUENCE TAG 1; MOST1 Asterisk 616993 TRANSMEMBRANE PROTEIN 243; TMEM243 CHROMOSOME 7 OPEN READING FRAME 23; C7ORF23;; MDR1- AND MITOCHONDRIAL TAXOL RESISTANCE-ASSOCIATED GENE; MMTRAG;; MGC4175 Asterisk 616995 CLOCK-INTERACTING PACEMAKER; CIPC KIAA1737 Asterisk 616996 TRIPARTITE MOTIF-CONTAINING PROTEIN 56; TRIM56 Asterisk 616997 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 7; ENPP7 ALKALINE SPHINGOMYELINASE; ALK-SMase Asterisk 616998 LLP, APLYSIA, HOMOLOG OF; LLPH LONG-TERM SYNAPTIC FACILITATION PROTEIN LLPH Asterisk 616999 RNA-BINDING PROTEIN FOX1, C. ELEGANS, HOMOLOG OF, 3; RBFOX3 FOX3;; NEURONAL NUCLEI ANTIGEN; NEUN;; HEXARIBONUCLEOTIDE-BINDING PROTEIN 3; HRNBP3 Asterisk 617000 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 4; ENPP4 NPP4;; KIAA0879 Asterisk 617001 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 5; ENPP5 NPP5 Asterisk 617002 BICD FAMILY-LIKE CARGO ADAPTOR 1; BICDL1 BICAUDAL D-RELATED PROTEIN 1; BICDR1;; COILED-COIL DOMAIN-CONTAINING PROTEIN 64; CCDC64;; CCDC64A Asterisk 617003 BICD FAMILY-LIKE CARGO ADAPTOR 2; BICDL2 BICAUDAL D-RELATED PROTEIN 2; BICDR2;; COILED-COIL DOMAIN-CONTAINING PROTEIN 64B; CCDC64B Number Sign 617004 POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS; PCLD2 Asterisk 617005 CLAUDIN 17; CLDN17 Number Sign 617006 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 Asterisk 617007 TRIPARTITE MOTIF-CONTAINING PROTEIN 35; TRIM35 MACROPHAGE-DERIVED APOPTOSIS-INDUCING RBCC PROTEIN; MAIR;; HEMOPOIETIC LINEAGE SWITCH 5; HLS5;; KIAA1098 Number Sign 617008 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3 Asterisk 617009 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 53; ANKRD53 Asterisk 617010 UNC51-LIKE KINASE 4; ULK4 SERINE/THREONINE PROTEIN KINASE ULK4;; FAM7C1 Number Sign 617011 MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR Asterisk 617012 POLIOVIRUS RECEPTOR-RELATED IMMUNOGLOBULIN DOMAIN-CONTAINING PROTEIN; PVRIG CD112 RECEPTOR; CD112R;; CHROMOSOME 7 OPEN READING FROME 15; C7ORF15 Number Sign 617013 HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2 Number Sign 617014 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE; SCN7 Asterisk 617015 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 2; PLCXD2 PIPLC X DOMAIN-CONTAINING PROTEIN 2 Asterisk 617016 PHOSPHOLIPASE C, PHOSPHATIDYLINOSITOL-SPECIFIC, X DOMAIN-CONTAINING PROTEIN 3; PLCXD3 PIPLC X DOMAIN-CONTAINING PROTEIN 3 Number Sign 617017 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T;; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T Number Sign 617018 SPINOCEREBELLAR ATAXIA 43; SCA43 Asterisk 617019 TRANSMEMBRANE PROTEIN 230; TMEM230 CHROMOSOME 20 OPEN READING FRAME 30; C20ORF30 Number Sign 617020 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38 Number Sign 617021 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA Number Sign 617022 LETHAL CONGENITAL CONTRACTURE SYNDROME 10; LCCS10 Number Sign 617023 RETINITIS PIGMENTOSA 75; RP75 Number Sign 617024 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H Number Sign 617025 NEVUS COMEDONICUS; NC Number Sign 617026 PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F Number Sign 617027 HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4 FH IV;; ALDOSTERONISM, PRIMARY, AND HYPERTENSION Number Sign 617028 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54; MRT54 Asterisk 617029 SEMAPHORIN 4B; SEMA4B Number Sign 617030 MYOPATHY, DISTAL, 5; MPD5 Asterisk 617031 PRECURSOR mRNA-PROCESSING FACTOR 38, S. CEREVISIAE, HOMOLOG OF, A; PRPF38A PRP38A;; PRP38 Asterisk 617032 PROTEIN-GLUCOSYLGALACTOSYLHYDROXYLYSINE GLUCOSIDASE; PGGHG ACID TREHALASE-LIKE PROTEIN 1; ATHL1 Asterisk 617033 GATS PROTEIN-LIKE 2; GATSL2 CELLULAR ARGININE SENSOR FOR MTORC1 PROTEIN 2; CASTOR2 Asterisk 617034 GATS PROTEIN-LIKE 3; GATSL3 CELLULAR ARGININE SENSOR FOR MTORC1 PROTEIN 1; CASTOR1 Number Sign 617035 PATENT DUCTUS ARTERIOSUS 2; PDA2 Asterisk 617036 ALKALINE CERAMIDASE 3; ACER3 ALKALINE PHYTOCERAMIDASE; APHC;; PHYTOCERAMIDASE, ALKALINE; PHCA Asterisk 617037 NONCODING RNA ACTIVATED BY DNA DAMAGE; NORAD LONG NONCODING RNA NORAD;; lncRNA NORAD;; LONG INTERGENIC NONCODING RNA 657; LINC00657;; lincRNA 657 Asterisk 617038 LONG INTERGENIC NONCODING RNA 1370; LINC01370 lincRNA 1370;; HUMAN ISLET LONG NONCODING RNA 25; HILNC25 Number Sign 617039 PATENT DUCTUS ARTERIOSUS 3; PDA3 Asterisk 617040 MICRO RNA 1231; MIR1231 miRNA1231 Number Sign 617041 DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3 Asterisk 617042 GASDERMIN D; GSDMD GASDERMIN DOMAIN-CONTAINING PROTEIN 1; GSDMDC1;; DFNA5-LIKE; DFNA5L Asterisk 617043 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 17; ARHGEF17 RHOGEF17;; RHO-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR, 164-KD; p164RHOGEF;; TUMOR ENDOTHELIAL MARKER 4; TEM4;; KIAA0337 Number Sign 617044 SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD Asterisk 617045 ZINC FINGER PROTEIN 703; ZNF703 ZFP703;; ZINC FINGER ELBOW-RELATED PROLINE DOMAIN PROTEIN 1; ZEPPO1; ZPO1;; NOCA-LIKE ZINC FINGER 1; NLZ1 Number Sign 617046 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE; SPG77 Number Sign 617047 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5, INCLUDED; RCM5, INCLUDED Asterisk 617048 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 21; DNAJC21 DNAJ HOMOLOGY SUBFAMILY A, MEMBER 5; DNAJA5 Number Sign 617049 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 Number Sign 617050 HERMANSKY-PUDLAK SYNDROME 10; HPS10 Number Sign 617051 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 Number Sign 617052 BONE MARROW FAILURE SYNDROME 3; BMFS3 Number Sign 617053 MIRAGE SYNDROME; MIRAGE MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY Number Sign 617054 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET; SNDC LENK-PLOSKI SYNDROME Number Sign 617055 CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3 Number Sign 617056 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4 Asterisk 617057 CYTOSOLIC THIOURIDYLASE, SUBUNIT 2; CTU2 CHROMOSOME 16 OPEN READING FRAME 84; C16ORF84;; UPF0432;; NCS2, S. CEREVISIAE, HOMOLOG OF Asterisk 617058 TSR3, AMINOCARBOXYPROPYL TRANSFERASE RIBOSOME MATURATION FACTOR; TSR3 ACP TRANSFERASE TSR3 Asterisk 617059 ZINC FINGER DBF DOMAIN-CONTAINING PROTEIN 2; ZDBF2 DBF-TYPE ZINC FINGER DOMAIN-CONTAINING PROTEIN 2;; KIAA1571 LONG ISOFORM OF ZDBF2, INCLUDED; LIZ, INCLUDED Asterisk 617060 LACTASE-LIKE PROTEIN; LCTL KLOTHO, GAMMA; KLG;; GAMMA-KLOTHO;; KLOTHO LACTASE-PHLORIZIN HYDROLASE-RELATED PROTEIN; KLPH Number Sign 617061 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 Number Sign 617062 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS Number Sign 617063 MEIER-GORLIN SYNDROME 7; MGORS7 Asterisk 617064 GUF1 GTPase, S. CEREVISIAE, HOMOLOG OF; GUF1 ELONGATION FACTOR 4, E. COLI, HOMOLOG OF; EF4 Number Sign 617065 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40 Number Sign 617066 MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE; MDCDC Asterisk 617067 LY6/PLAUR DOMAIN-CONTAINING PROTEIN 8; LYPD8 Number Sign 617068 PORTAL HYPERTENSION, NONCIRRHOTIC; NCPH Number Sign 617069 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 Number Sign 617070 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4; PEOB4 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4 Asterisk 617071 LONG NONCODING RNA 13 lncRNA 13; LNC13 Number Sign 617072 MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES; MRRSDC MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y; LGMD2Y Number Sign 617073 TOOTH AGENESIS, SELECTIVE, 8; STHAG8 Asterisk 617074 SMITH-MAGENIS SYNDROME CHROMOSOME REGION, CANDIDATE GENE 8; SMCR8 Number Sign 617075 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3 Asterisk 617076 FK506-BINDING PROTEIN-LIKE; FKBPL DOWNREGULATED BY IONIZING RADIATION 1; DIR1;; WAF1/CIP1-STABILIZING PROTEIN, 39-KD; WISP39 Asterisk 617077 ZINC FINGER PROTEIN 618; ZNF618 NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 10; NEDD10;; KIAA1952 Asterisk 617078 DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN 2; DEDD2 FADD-LIKE ANTIAPOPTOTIC MOLECULE 3; FLAME3 Asterisk 617079 LONG INTERGENIC NONCODING RNA 673; LINC00673 lincRNA 673;; HUMAN ISLET LONG NONCODING RNA 75; HILNC75;; SRA-LIKE NONCODING RNA; SLNCR;; LUCAIR1 Number Sign 617080 SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5; BFIC5 Asterisk 617081 OMA1 ZINC METALLOPEPTIDASE; OMA1 OVERLAPPING ACTIVITY WITH M-AAA PROTEASE;; METALLOPROTEASE-RELATED PROTEIN 1; MPRP1 Number Sign 617082 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa; CDG1AA Asterisk 617083 DYNEIN, CYTOPLASMIC 2, LIGHT INTERMEDIATE CHAIN 1; DYNC2LI1 DYNEIN 2, LIGHT INTERMEDIATE CHAIN; D2LIC;; LIGHT INTERMEDIATE CHAIN 3; LIC3 Asterisk 617084 TRANSMEMBRANE PROTEIN 59; TMEM59 LIVER MEMBRANE PROTEIN;; DENDRITIC CELL FACTOR 1; DCF1 Asterisk 617085 FIN BUD INITIATION FACTOR, ZEBRAFISH, HOMOLOG OF; FIBIN Number Sign 617086 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2 Number Sign 617087 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B; CMT2A2B Number Sign 617088 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15 Asterisk 617089 NUCLEOLUS AND NEURAL PROGENITOR PROTEIN; NEPRO CHROMOSOME 3 OPEN READING FRAME 17; C3ORF17 Number Sign 617090 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17 Number Sign 617091 CILIARY DYSKINESIA, PRIMARY, 34; CILD34 CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS Number Sign 617092 CILIARY DYSKINESIA, PRIMARY, 35; CILD35 CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS Number Sign 617093 GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH Asterisk 617094 INTRAFLAGELLAR TRANSPORT 52, CHLAMYDOMONAS, HOMOLOG OF; IFT52 Asterisk 617095 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 25; TTC25 Asterisk 617096 TRANSMEMBRANE PROTEIN 59-LIKE; TMEM59L BRAIN-SPECIFIC MEMBRANE-ANCHORED PROTEIN; BSMAP Asterisk 617097 LONG INTERGENIC NONCODING RNA 1194; LINC01194 lincRNA 1194;; TUMOR ANTIGEN GENE; TAG Asterisk 617098 RIBONUCLEASE K; RNASEK RNase KAPPA;; RNase K Number Sign 617099 AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS OTULIN-RELATED AUTOINFLAMMATORY SYNDROME; ORAS;; OTULIPENIA Number Sign 617100 FAMILIAL ADENOMATOUS POLYPOSIS 4; FAP4 Number Sign 617101 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN DIAS-LOGAN SYNDROME;; INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN Number Sign 617102 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY; SRTD16 Asterisk 617103 ZINC FINGER PROTEIN 668; ZNF668 Asterisk 617104 PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE, TYPE II, GAMMA; PIP4K2C PIP4K2-GAMMA;; PHOSPHATIDYLINOSITOL 4-PHOSPHATE 5-KINASE, TYPE II, GAMMA; PIP5K2C Number Sign 617105 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41 Number Sign 617106 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42 Number Sign 617107 THAUVIN-ROBINET-FAIVRE SYNDROME; TROFAS Number Sign 617108 SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS Asterisk 617109 CREB3 RECRUITMENT FACTOR; CREBRF LUMAN RECRUITMENT FACTOR; LRF;; CHROMOSOME 5 OPEN READING FRAME 41; C5ORF41 Asterisk 617110 CENTROSOMAL PROTEIN, 78-KD; CEP78 Number Sign 617111 MACULAR DYSTROPHY, PATTERNED, 3; MDPT3 MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY Asterisk 617112 KIAA0753 GENE; KIAA0753 OFD1- AND FOPNL-INTERACTING PROTEIN; OFIP;; MOONRAKER Number Sign 617113 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43 Number Sign 617114 MYOPATHY, MYOFIBRILLAR, 7; MFM7 Number Sign 617115 PEELING SKIN SYNDROME 5; PSS5 Number Sign 617116 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2 Asterisk 617117 LONG INTERGENIC NONCODING RNA 663; LINC00663 lincRNA 663 Number Sign 617118 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3; FFEVF3 Number Sign 617119 BARDET-BIEDL SYNDROME 20; BBS20 Number Sign 617120 JOUBERT SYNDROME 27; JBTS27 Number Sign 617121 JOUBERT SYNDROME 28; JBTS28 Asterisk 617122 C1QTNF9B ANTISENSE RNA 1; C1QTNF9BAS1 PROSTATE COLLAGEN TRIPLE-HELIX PROTEIN; PCOTH Number Sign 617123 RETINITIS PIGMENTOSA 76; RP76 Asterisk 617124 PEPTIDASE M20 DOMAIN-CONTAINING PROTEIN 1; PM20D1 Number Sign 617125 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56; MRT56 Number Sign 617126 ALAZAMI-YUAN SYNDROME; ALYUS Number Sign 617127 OROFACIODIGITAL SYNDROME XV; OFD15 OFDS XV;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV Asterisk 617128 INHIBITORY SYNAPTIC FACTOR 1; INSYN1 CHROMOSOME 15 OPEN READING FRAME 59; C15ORF59;; INHIBITORY SYNAPTIC PROTEIN 1 Asterisk 617129 FAMILY WITH SEQUENCE SIMILARITY 196, MEMBER A; FAM196A CHROMOSOME 10 OPEN READING FRAME 141; C10ORF141;; INHIBITORY SYNAPTIC PROTEIN 2; INSYN2 Asterisk 617130 MEMBRANE-ANCHORED JUNCTION PROTEIN; MAJIN CHROMOSOME 11 OPEN READING FRAME 85; C11ORF85 Asterisk 617131 TELOMERE REPEAT-BINDING BOUQUET FORMATION PROTEIN 2; TERB2 CHROMOSOME 15 OPEN READING FRAME 43; C15ORF43 Number Sign 617132 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44 Number Sign 617133 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24 Asterisk 617134 TRANSMEMBRANE AND COILED-COIL DOMAINS PROTEIN 3; TMCO3 CHROMOSOME 13 OPEN READING FRAME 11; C13ORF11 Asterisk 617135 L3MBT-LIKE 4; L3MBTL4 Asterisk 617136 TFAP2A ANTISENSE RNA 2; TFAP2AAS2 HETEROGENOUSLY EXPRESSED FROM THE INTRONIC PLUS STRAND OF THE TFAP2A LOCUS RNA; HIPSTR;; LONG NONCODING RNA HIPSTR;; lncRNA HIPSTR Number Sign 617137 FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2 Asterisk 617138 SKI FAMILY TRANSCRIPTIONAL COREPRESSOR 2; SKOR2 FUNCTIONAL SMAD-SUPPRESSING ELEMENT ON CHROMOSOME 18; FUSSEL18;; CORL2 Asterisk 617139 LECTIN, GALACTOSIDE-BINDING, SOLUBLE, 7B; LGALS7B Number Sign 617140 ZTTK SYNDROME; ZTTKS ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME;; ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME Number Sign 617141 ANIRIDIA 2; AN2 Number Sign 617142 ANIRIDIA 3; AN3 Number Sign 617143 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20 Asterisk 617144 MICRO RNA 4435-2 HOST GENE, NONCODING; MIR4435-2HG MIR4435-2 HOST GENE;; miRNA4435-2 HOST GENE;; LONG NONCODING RNA MORRBID;; lncRNA MORRBID;; MYELOID RNA REGULATOR OF BIM-INDUCED DEATH Number Sign 617145 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP Number Sign 617146 ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT Asterisk 617147 COILED-COIL DOMAIN-CONTAINING PROTEIN 14; CCDC14 Asterisk 617148 DEUTEROSOME ASSEMBLY PROTEIN 1; DEUP1 COILED-COIL DOMAIN-CONTAINING PROTEIN 67; CCDC67 Asterisk 617149 FGFR1OP N-TERMINAL DOMAIN-LIKE PROTEIN; FOPNL FOP-RELATED PROTEIN, 20-KD; FOR20;; CHROMOSOME 16 OPEN READING FRAME 63; C16ORF63 Asterisk 617150 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 3; ZDHHC3 DHHC3;; GOLGI-SPECIFIC DHHC ZINC FINGER PROTEIN; GODZ Asterisk 617151 SULFOTRANSFERASE FAMILY 1C, MEMBER 3; SULT1C3 Asterisk 617152 SULFOTRANSFERASE FAMILY 6B, MEMBER 1; SULT6B1 Number Sign 617153 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45 Asterisk 617154 MRN COMPLEX-INTERACTING PROTEIN; MRNIP CHROMOSOME 5 OPEN READING FRAME 45; C5ORF45 Asterisk 617155 SUPPRESSION OF TUMORIGENICITY 18; ST18 ZINC FINGER PROTEIN 387; ZNF387;; KIAA0535 Number Sign 617156 MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15 Number Sign 617157 SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES; SBIDDS Number Sign 617158 MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV Number Sign 617159 SIFRIM-HITZ-WEISS SYNDROME; SIHIWES SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME Asterisk 617160 PROMININ 2; PROM2 PROMININ-LIKE PROTEIN 2; PROML2 Asterisk 617161 GSG1-LIKE PROTEIN; GSG1L Number Sign 617162 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46 Asterisk 617163 RING FINGER PROTEIN 186; RNF186 Number Sign 617164 SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY; SRMMD Asterisk 617165 FAMILY WITH SEQUENCE SIMILARITY 213, MEMBER A; FAM213A PEROXIREDOXIN ACTIVATED IN MCSF-STIMULATED MONOCYTES; PAMM;; CHROMOSOME 10 OPEN READING FRAME 58 Number Sign 617166 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47 Asterisk 617167 SOLUTE CARRIER FAMILY 35, MEMBER G1; SLC35G1 PARTNER OF STIM1; POST;; TRANSMEMBRANE PROTEIN 20; TMEM20;; CHROMOSOME 10 OPEN READING FRAME 60; C10ORF60 Number Sign 617168 AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10 AORTIC ANEURYSM, THORACIC, WITH OR WITHOUT AORTIC DISSECTION Number Sign 617169 SOTOS SYNDROME 3; SOTOS3 Asterisk 617170 CWC27 SPLICEOSOME-ASSOCIATED PROTEIN, S. CEREVISIAE, HOMOLOG OF; CWC27 SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 10: SDCCAG10;; NY-CO-10 Number Sign 617171 DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; DYSEIDD Asterisk 617172 GLUTATHIONE PEROXIDASE 8; GPX8 Number Sign 617173 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA Number Sign 617174 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2 Number Sign 617175 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA Asterisk 617176 MICRO RNA 4271; MIR4271 miRNA4271 Asterisk 617177 MYOSIN LIGHT CHAIN 10; MYL10 PRECURSOR LYMPHOCYTE-SPECIFIC REGULATORY LIGHT CHAIN; PLRLC Asterisk 617178 RING FINGER PROTEIN 166; RNF166 Asterisk 617179 PROMOTER OF CDKN1A ANTISENSE DNA DAMAGE-ACTIVATED RNA; PANDAR PANDA Number Sign 617180 CHITAYAT SYNDROME; CHYTS Asterisk 617181 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 4; TMC4 Number Sign 617182 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI Number Sign 617183 HAREL-YOON SYNDROME; HAYOS Number Sign 617184 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A Asterisk 617185 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 7; NSUN7 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 7 Number Sign 617186 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1; PEBEL1 PEBEL Number Sign 617187 SPERMATOGENIC FAILURE 16; SPGF16 ACEPHALIC SPERMATOZOA SYNDROME Number Sign 617188 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57; MRT57 Asterisk 617189 TRANSMEMBRANE PROTEIN 110; TMEM110 STIM-ACTIVATING ENHANCER; STIMATE Number Sign 617190 SHASHI-PENA SYNDROME; SHAPNS Asterisk 617191 p38-INHIBITED CUTANEOUS SQUAMOUS CELL CARCINOMA-ASSOCIATED LONG INTERGENIC NONCODING RNA; PICSAR lincRNA PICSAR;; LONG INTERGENIC NONCODING RNA 162; LINC00162;; NARCOLEPSY CANDIDATE REGION GENE 1C; NLC1C Asterisk 617192 ENDONUCLEASE/EXONUCLEASE/PHOSPHATASE FAMILY DOMAIN-CONTAINING PROTEIN 1; EEPD1 KIAA1706 Number Sign 617193 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT Number Sign 617194 LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11 Asterisk 617195 MUSCULOSKELETAL EMBRYONIC NUCLEAR PROTEIN 1; MUSTN1 MUSCULOSKELETAL TEMPORALLY ACTIVATED NOVEL GENE; MUSTANG Asterisk 617196 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 3; TMC3 Asterisk 617197 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 5; TMC5 Asterisk 617198 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 7; TMC7 Asterisk 617199 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 6; NSUN6 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 6 Asterisk 617200 OLIGODENDROCYTIC MYELIN PARANODAL AND INNER LOOP PROTEIN; OPALIN TRANSMEMBRANE PROTEIN 10; TMEM10;; HTMP10; TMP10 Number Sign 617201 PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7 Asterisk 617202 FORKHEAD BOX I2; FOXI2 Asterisk 617203 TRANSMEMBRANE PROTEIN 87B; TMEM87B Asterisk 617204 VIMENTIN-TYPE INTERMEDIATE FILAMENT-ASSOCIATED COILED-COIL PROTEIN; VMAC Number Sign 617205 HETEROTAXY, VISCERAL, 8, AUTOSOMAL; HTX8 Asterisk 617206 NEURALIZED E3 UBIQUITIN PROTEIN LIGASE 3; NEURL3 LUNG-INDUCIBLE NEURALIZED-RELATED C3HC4 RING DOMAIN PROTEIN; LINCR Number Sign 617207 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO Asterisk 617208 MAM DOMAIN-CONTAINING PROTEIN 4; MAMDC4 Asterisk 617209 GLUTAMINYL-tRNA SYNTHASE (GLUTAMINE-HYDROLYZING)-LIKE PROTEIN 1; QRSL1 GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT A; GATA;; GLUTAMYL-tRNA-GLN AMIDOTRANSFERASE, SUBUNIT A, MITOCHONDRIAL Asterisk 617210 GLUTAMYL-tRNA AMIDOTRANSFERASE, SUBUNIT C; GATC GLUTAMYL-tRNA-GLN AMIDOTRANSFERASE, SUBUNIT C, MITOCHONDRIAL Asterisk 617211 DERMOKINE; DMKN Asterisk 617212 KERATINOCYTE DIFFERENTIATION-ASSOCIATED PROTEIN; KRTDAP KDAP Number Sign 617213 SEDOHEPTULOKINASE DEFICIENCY; SHPKD Number Sign 617214 SPERMATOGENIC FAILURE 17; SPGF17 MALE INFERTILITY DUE TO OOCYTE ACTIVATION FAILURE Asterisk 617215 CHROMOSOME 17 OPEN READING FRAME 49; C17ORF49 BPTF-ASSOCIATED PROTEIN, 18-KD; BAP18 Asterisk 617216 ZINC FINGER PROTEIN 420; ZNF420 ATM- AND p53-ASSOCIATED KZNF PROTEIN; APAK Number Sign 617217 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 Asterisk 617218 TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 3; TMTC3 SMILE Number Sign 617219 CHROMOSOME 19q13.11 DELETION SYNDROME, PROXIMAL Asterisk 617220 PYRIDINE NUCLEOTIDE-DISULFIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; PYROXD1 PNDR DOMAIN-CONTAINING PROTEIN 1 Asterisk 617221 HEXOKINASE DOMAIN-CONTAINING PROTEIN 1; HKDC1 Number Sign 617222 SUDDEN CARDIAC FAILURE, INFANTILE; SCFI Number Sign 617223 SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI Asterisk 617224 GROWTH ARREST-SPECIFIC 2-LIKE 3; GAS2L3 GAS2-LIKE 3; G2L3 Number Sign 617225 SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 Asterisk 617226 MITOGEN-ACTIVATED PROTEIN KINASE 1-INTERACTING PROTEIN 1-LIKE PROTEIN; MAPK1IP1L MAPK1IP1-LIKE PROTEIN;; MAPK1IP1, MOUSE, HOMOLOG OF;; MAPK-INTERACTING AND SPINDLE-STABILIZING PROTEIN, MOUSE, HOMOLOG OF; MISS;; MISS, MOUSE, HOMOLOG OF Asterisk 617227 ATPase FAMILY, AAA DOMAIN-CONTAINING, MEMBER 3C; ATAD3C Number Sign 617228 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31 Asterisk 617229 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER A; FAM53A DORSAL NEURAL TUBE NUCLEAR PROTEIN; DNTNP Asterisk 617230 ZINC FINGER PROTEIN 1, MOUSE, HOMOLOG OF; ZFP1 ZINC FINGER PROTEIN 475; ZNF475 Asterisk 617231 PHOSPHOLYSINE PHOSPHOHISTIDINE INORGANIC PYROPHOSPHATE PHOSPHATASE; LHPP Number Sign 617232 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21; LGMDR21 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z; LGMD2Z Asterisk 617233 WD REPEAT-CONTAINING PROTEIN 70; WDR70 Number Sign 617234 PREIMPLANTATION EMBRYONIC LETHALITY 2; PREMBL2 Number Sign 617235 MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY Number Sign 617236 CONE-ROD DYSTROPHY AND HEARING LOSS 1; CRDHL1 CRDHL Number Sign 617237 IMMUNODEFICIENCY 49; IMD49 SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES;; SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES Number Sign 617238 MYOPIA 25, AUTOSOMAL DOMINANT; MYP25 Number Sign 617239 MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21 Asterisk 617240 HAND2 ANTISENSE RNA 1, NONCODING; HAND2AS1 UPPERHAND; UPH;; DIFFERENTIALLY EXPRESSED IN NEUROBLASTOMA; DEIN Number Sign 617241 LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS Asterisk 617242 TRANS-2,3-ENOYL-CoA REDUCTASE-LIKE PROTEIN; TECRL TECR-LIKE PROTEIN;; TER-LIKE PROTEIN; TERL;; STEROID 5-ALPHA-REDUCTASE 2-LIKE 2; SRD5A2L2;; GPSN2-LIKE; GPSN2L Number Sign 617243 FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV Number Sign 617244 FANCONI ANEMIA, COMPLEMENTATION GROUP R; FANCR Asterisk 617245 HECT, C2, AND WW DOMAINS-CONTAINING E3 UBIQUITIN-PROTEIN LIGASE 2; HECW2 NEDD4-LIKE E3 UBIQUITIN-PROTEIN LIGASE 2; NEDL2;; KIAA1301 Asterisk 617246 NON-SMC ELEMENT 2, S. CEREVISIAE, HOMOLOG OF; NSMCE2 NSE2;; MMS21, S. CEREVISIAE, HOMOLOG OF; MMS21;; SMC5/SMC6 COMPLEX SUMO LIGASE NSMCE2 Number Sign 617247 FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU Number Sign 617248 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8 Asterisk 617249 FAMILY WITH SEQUENCE SIMILARITY 122, MEMBER A; FAM122A CHROMOSOME 9 OPEN READING FRAME 42; C9ORF42 Asterisk 617250 ELKS/RAB6-INTERACTING/CAST FAMILY, MEMBER 2; ERC2 CYTOMATRIX PROTEIN, 110-KD;; CAZ-ASSOCIATED STRUCTURAL PROTEIN; CAST;; CAST1;; KIAA0378 Number Sign 617251 UNCOMBABLE HAIR SYNDROME 2; UHS2 Number Sign 617252 UNCOMBABLE HAIR SYNDROME 3; UHS3 Number Sign 617253 SECKEL SYNDROME 10; SCKL10 Asterisk 617254 LAMIN TAIL DOMAIN-CONTAINING PROTEIN 1; LMNTD1 INTERMEDIATE FILAMENT TAIL DOMAIN-CONTAINING PROTEIN 1; IFLTD1;; LAMIN A-RELATED SEQUENCE 1; LMNARS1;; PAS1 CANDIDATE 1, MOUSE, HOMOLOG OF; PAS1C1 Number Sign 617255 LISSENCEPHALY 8; LIS8 Asterisk 617256 SOLUTE CARRIER FAMILY 7, MEMBER 13; SLC7A13 SODIUM-INDEPENDENT ASPARTATE/GLUTAMATE TRANSPORTER 1; AGT1;; X AMINO ACID TRANSPORTER 2; XAT2 Asterisk 617257 SPERMATOGENESIS-ASSOCIATED PROTEIN 46; SPATA46 Number Sign 617258 MYOPATHY, MYOFIBRILLAR, 8; MFM8 Asterisk 617259 DDB1- AND CUL4-ASSOCIATED FACTOR 1; DCAF1 VPR-INTERACTING PROTEIN; RIP;; VPR-BINDING PROTEIN; VPRBP;; KIAA0800 Number Sign 617260 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF Asterisk 617261 TRANSMEMBRANE PROTEIN 261; TMEM261 DISTAL MEMBRANE ARM ASSEMBLY COMPONENT 1; DMAC1;; CHROMOSOME 9 OPEN READING FRAME 123; C9ORF123 Asterisk 617262 ATP5S-LIKE PROTEIN; ATP5SL Asterisk 617263 NON-SMC ELEMENT 1, S. CEREVISIAE, HOMOLOG OF; NSMCE1 NSE1;; SMC5-SMC6 COMPLEX COMPONENT NSE1 Asterisk 617264 SR-RELATED C-TERMINAL DOMAIN-ASSOCIATED FACTOR 1; SCAF1 SR-RELATED CTD-ASSOCIATED FACTOR 1;; SERINE- AND ARGININE-RICH PRE-mRNA SPLICING FACTOR SRA1 Asterisk 617265 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 9; KCTD9 BTB/POZ DOMAIN-CONTAINING PROTEIN 27; BTBD27 Asterisk 617266 KIAA0825 GENE; KIAA0825 Asterisk 617267 MATRIX AAA PEPTIDASE-INTERACTING PROTEIN 1; MAIP1 CHROMOSOME 2 OPEN READING FAME 47; C2ORF47 Number Sign 617268 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL Asterisk 617269 SOCS2 ANTISENSE RNA 1, NONCODING; SOCS2AS1 LONG NONCODING RNA SOCS2AS1;; lncRNA SOCS2AS1 Number Sign 617270 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58 Number Sign 617271 NEPHRONOPHTHISIS 20; NPHP20 Number Sign 617272 GLAUCOMA 3, PRIMARY CONGENITAL, E; GLC3E Asterisk 617273 FAMILY WITH SEQUENCE SIMILARITY 92, MEMBER A; FAM92A FAM92A1 Asterisk 617274 FAMILY WITH SEQUENCE SIMILARITY 92, MEMBER B; FAM92B Number Sign 617275 TOOTH AGENESIS, SELECTIVE, 9; STHAG9 Number Sign 617276 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 Asterisk 617277 DYNEIN HEAVY CHAIN DOMAIN 1; DNHD1 COILED-COIL DOMAIN-CONTAINING PROTEIN 35;; FLJ00251 Asterisk 617278 DENN DOMAIN-CONTAINING PROTEIN 5A; DENND5A RAB6-INTERACTING PROTEIN 1; RAB6IP1;; KIAA1091 Asterisk 617279 DENN DOMAIN-CONTAINING PROTEIN 5B; DENND5B RAB6IP-LIKE PROTEIN Number Sign 617280 ATRIAL FIBRILLATION, FAMILIAL, 18; ATFB18 Number Sign 617281 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49 Number Sign 617282 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES; DYTOABG DYSTONIA 29, CHILDHOOD-ONSET; DYT29 Asterisk 617283 YTH DOMAIN-CONTAINING PROTEIN 1; YTHDC1 YT521;; YT521B;; KIAA1966 Number Sign 617284 DYSTONIA 28, CHILDHOOD-ONSET; DYT28 Asterisk 617285 HIGH MOBILITY GROUP BOX 4; HMGB4 HIGH MOBILITY GROUP PROTEIN B4;; HMG2-LIKE Asterisk 617286 PITX2 ADJACENT NONCODING RNA; PANCR LONG NONCODING RNA PANCR;; lncRNA PANCR Asterisk 617287 PHOSPHOLIPID PHOSPHATASE-RELATED PROTEIN 5; PLPPR5 PLASTICITY-RELATED GENE 5; PRG5;; LIPID PHOSPHATE PHOSPHATASE-RELATED 5; LPPR5;; PHOSPHATIDIC ACID PHOSPHATASE 2D; PAP2D;; PHOSPHATIDIC ACID PHOSPHATASE TYPE 2; PAP2 Asterisk 617288 SERINE PEPTIDASE INHIBITOR, KAZAL-TYPE, 7; SPINK7 ESOPHAGUS CANCER-RELATED GENE 2; ECRG2 Asterisk 617289 FAMILY WITH SEQUENCE SIMILARITY 53, MEMBER B; FAM53B SIMPLET, MEDAKA, HOMOLOG OF;; KIAA0140 Number Sign 617290 EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D Asterisk 617291 TRANSMEMBRANE PROTEIN 150B; TMEM150B DAMAGE-REGULATED AUTOPHAGY MODULATOR 3; DRAM3;; TENTONIN 2; TTN2;; TMEM224 Asterisk 617292 TRANSMEMBRANE PROTEIN 150C; TMEM150C TENTONIN 3; TTN3 Asterisk 617293 MATRIX REMODELING-ASSOCIATED PROTEIN 8; MXRA8 LIMITRIN;; ADIPOCYTE-SPECIFIC PROTEIN 3; ASP3 Number Sign 617294 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS; EBSSH Asterisk 617295 RUN DOMAIN-CONTAINING PROTEIN 3B; RUNDC3B RAP2-INTERACTING PROTEIN 9; RPIP9 Number Sign 617296 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO Number Sign 617297 AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J Asterisk 617298 APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 3; AIFM3 APOPTOSIS-INDUCING FACTOR-LIKE; AIFL Asterisk 617299 RPA-INTERACTING PROTEIN; RPAIN RAP-INTERACTING PROTEIN; RIP Number Sign 617300 LYMPHATIC MALFORMATION 7; LMPHM7 CENTRAL CONDUCTION LYMPHATIC ANOMALY;; HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT; HFASD Number Sign 617301 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE Number Sign 617302 OPTIC ATROPHY 11; OPA11 Number Sign 617303 MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME; MPSPS Number Sign 617304 RETINITIS PIGMENTOSA 77; RP77 Asterisk 617305 FAMILY WITH SEQUENCE SIMILARITY 26, MEMBER F; FAM26F IRF3-DEPENDENT NATURAL KILLER CELL-ACTIVATING MOLECULE; INAM Number Sign 617306 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD Asterisk 617307 CHROMOSOME 14 OPEN READING FRAME 39; C14ORF39 SIX6 OPPOSITE STRAND TRANSCRIPT 1; SIX6OS1 Number Sign 617308 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6 Asterisk 617309 IMMUNOGLOBULIN-LIKE AND FIBRONECTIN TYPE III DOMAINS-CONTAINING PROTEIN 1; IGFN1 EEF1A2-BINDING PROTEIN 1; EEF1A2BP1 Asterisk 617310 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAINS-CONTAINING PROTEIN 3; ANKS3 Asterisk 617311 ZYMOGEN GRANULE PROTEIN, 16-KD; ZG16 ZG16A;; JACALIN-LIKE LECTIN DOMAIN-CONTAINING PROTEIN 1; JCLN1 Asterisk 617312 FAMILY WITH SEQUENCE SIMILARITY 160, MEMBER B1; FAM160B1 KIAA1600 Asterisk 617313 SH2 DOMAIN-CONTAINING ADAPTOR PROTEIN F; SHF Asterisk 617314 SH3 DOMAIN- AND SYLF DOMAIN-CONTAINING PROTEIN 1; SH3YL1 SH3 DOMAIN-CONTAINING YSC84-LIKE PROTEIN 1 Number Sign 617315 ANTERIOR SEGMENT DYSGENESIS 6; ASGD6 Asterisk 617316 TP53 TARGET GENE 5; TP53TG5 Asterisk 617317 ZINC FINGER PROTEIN 30, MOUSE, HOMOLOG OF; ZFP30 ZINC FINGER PROTEIN 745; ZNF745;; KIAA0961 Asterisk 617318 RUN DOMAIN- AND SH3 DOMAIN-CONTAINING PROTEIN 1; RUSC1 NEW MOLECULE CONTAINING SH3 DOMAIN AT THE C TERMINUS; NESCA Number Sign 617319 ANTERIOR SEGMENT DYSGENESIS 8; ASGD8 Number Sign 617320 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12 Number Sign 617321 YAO SYNDROME; YAOS Asterisk 617322 SH3KBP1-BINDING PROTEIN 1; SHKBP1 SETA-BINDING PROTEIN 1; SB1 Number Sign 617323 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59; MRT59 Asterisk 617324 SHISA FAMILY, MEMBER 2; SHISA2 CHROMOSOME 13 OPEN READING FRAME 13; C13ORF13;; TRANSMEMBRANE PROTEIN 46; TMEM46 Asterisk 617325 SHISA FAMILY, MEMBER 3; SHISA3 Asterisk 617326 SHISA FAMILY, MEMBER 4; SHISA4 CHROMOSOME 1 OPEN READING FRAME 40; C1ORF40;; TRANSMEMBRANE PROTEIN 58; TMEM58 Asterisk 617327 SHISA FAMILY, MEMBER 6; SHISA6 Asterisk 617328 SHISA FAMILY, MEMBER 7; SHISA7 Asterisk 617329 SHISA FAMILY, MEMBER 8; SHISA8 Number Sign 617330 HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS Asterisk 617331 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 4B; MFSD4B SODIUM-DEPENDENT GLUCOSE TRANSPORTER 1; NAGLT1;; KIAA1919 Asterisk 617332 TELOMERE REPEAT-BINDING BOUQUET FORMATION PROTEIN 1; TERB1 COILED-COIL DOMAIN-CONTAINING PROTEIN 79; CCDC79 Number Sign 617333 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP Asterisk 617334 ZINC FINGER DHHC-TYPE CONTAINING 23; ZDHHC23 NEURONAL NITRIC OXIDE SYNTHASE-INTERACTING DHHC DOMAIN-CONTAINING PROTEIN WITH DENDRITIC mRNA; NIDD Asterisk 617335 EMOPAMIL-BINDING PROTEIN-LIKE; EBPL Number Sign 617336 NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11 Number Sign 617337 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12 Asterisk 617338 NUDIX HYDROLASE 16-LIKE 1; NUDT16L1 SYNDESMOS; SDOS;; TUDOR-INTERACTING REPAIR REGULATOR; TIRR Number Sign 617339 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51 Asterisk 617340 URIDINE PHOSPHORYLASE 2; UPP2 UPase2 Number Sign 617341 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2 Asterisk 617342 PEPTIDYL-tRNA HYDROLASE DOMAIN-CONTAINING 1; PTRHD1 CHROMOSOME 2 OPEN READING FRAME 79; C2ORF79 Number Sign 617343 HYPERPARATHYROIDISM 4; HRPT4 Asterisk 617344 PEAK1-RELATED KINASE-ACTIVATING PSEUDOKINASE 1; PRAG1 PRAGMA OF RND2; PRAGMIN;; NOTCH ACTIVATION COMPLEX KINASE; NACK;; PEAK FAMILY MEMBER 2; PEAK2 Asterisk 617345 ATP/GTP-BINDING PROTEIN-LIKE 2; AGBL2 CYTOSOLIC CARBOXYPEPTIDASE 2; CCP2 Asterisk 617346 ATP/GTP-BINDING PROTEIN-LIKE 3; AGBL3 CYTOSOLIC CARBOXYPEPTIDASE 3; CCP3 Number Sign 617347 HYPERLIPOPROTEINEMIA, TYPE III APOLIPOPROTEIN E, DEFICIENCY OR DEFECT OF;; DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d;; FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA;; FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA;; HYPERLIPEMIA WITH FAMILIAL HYPERCHOLESTEROLEMIC XANTHOMATOSIS;; BROAD-BETALIPOPROTEINEMIA;; FLOATING-BETALIPOPROTEINEMIA CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED;; LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5, INCLUDED; LDLCQ5, INCLUDED Asterisk 617348 CARBOXYPEPTIDASE X, M14 FAMILY, MEMBER 2; CPXM2 CPX2 Number Sign 617349 AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11 Number Sign 617350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52 Asterisk 617351 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 10; IGSF10 Number Sign 617352 MULCHANDANI-BHOJ-CONLIN SYNDROME; MBCS UNIPARENTAL DISOMY, MATERNAL, CHROMOSOME 20 Asterisk 617353 TCTEX1 DOMAIN-CONTAINING PROTEIN 2; TCTEX1D2 Asterisk 617354 CHROMOBOX HOMOLOG 8; CBX8 POLYCOMB 3; PC3 Asterisk 617355 EP300-INTERACTING INHIBITOR OF DIFFERENTIATION 2B; EID2B Asterisk 617356 SUBCOMMISSURAL ORGAN SPONDIN; SSPO SCO-SPONDIN Asterisk 617357 ZINC FINGER PROTEIN 222; ZNF222 Asterisk 617358 SYNDECAN-BINDING PROTEIN 2; SDCBP2 SIMILAR TO TACIP18; SITAC;; SYNTENIN-2; ST2;; SITAC18 Asterisk 617359 STORKHEAD BOX 2; STOX2 KIAA1392 Number Sign 617360 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD Asterisk 617361 TRANSMEMBRANE PROTEIN 108; TMEM108 RETROLINKIN; RTLN;; KIAA1690 Asterisk 617362 DEAH BOX POLYPEPTIDE 37; DHX37 DEAD/DEAH BOX 37;; KIAA1517 Asterisk 617363 TRANSMEMBRANE PROTEIN 132A; TMEM132A GRP78-BINDING PROTEIN; GBP;; KIAA1583 Number Sign 617364 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED Asterisk 617365 AAR2 SPLICING FACTOR, S. CEREVISIAE, HOMOLOG OF; AAR2 CHROMOSOME 20 OPEN READING FRAME 4; C20ORF4 Asterisk 617366 COILED-COIL DOMAIN-CONTAINING PROTEIN 91; CCDC91 p56 Asterisk 617367 KIAA1217 GENE; KIAA1217 SICKLE TAIL, MOUSE, HOMOLOG OF; SKT Asterisk 617368 SH3 DOMAIN-BINDING PROTEIN 1; SH3BP1 RHO GTPase-ACTIVATING PROTEIN 43; ARHGAP43;; 3BP1 BARGIN, INCLUDED; BGIN, INCLUDED;; SH3BP1/PDXP FUSION GENE, INCLUDED Asterisk 617369 HYALURONAN-BINDING PROTEIN 4; HABP4 INTRACELLULAR HYALURONAN-BINDING PROTEIN 4; IHABP4;; KI1-INTERACTING 57-KD INTRACELLULAR ANTIGEN;; KI1/57 Number Sign 617370 PEROXISOME BIOGENESIS DISORDER 10B; PBD10B Asterisk 617371 ZINC FINGER PROTEIN 462; ZNF462 KIAA1803 Asterisk 617372 SHC TRANSFORMING PROTEIN 4; SHC4 SHC ADAPTOR PROTEIN 4;; RAI-LIKE PROTEIN; RALP;; SHC PROTEIN D; SHCD;; SH2 DOMAIN PROTEIN C4 Asterisk 617373 PROLINE-RICH COILED-COIL PROTEIN 2C; PRRC2C KIAA1096 Asterisk 617374 INHIBITOR OF CDK, CYCLIN A1-INTERACTING PROTEIN 1; INCA1 HSD45 Asterisk 617375 KELCH DOMAIN-CONTAINING PROTEIN 9; KLHDC9 KELCH/ANKYRIN REPEAT-CONTAINING CYCLIN A1-INTERACTING PROTEIN; KARCA1 Asterisk 617376 PROLINE-RICH CYCLIN A1-INTERACTING PROTEIN; PROCA1 Asterisk 617377 SYNAPSE DEFECTIVE RHO GTPase, C. ELEGANS, HOMOLOG OF, 1; SYDE1 SYD1 Asterisk 617378 MYOSIN LIGHT CHAIN, PHOSPHORYLATABLE, FAST SKELETAL MUSCLE; MYLPF MYOSIN LIGHT CHAIN 2B; MLC2B;; MYOSIN REGULATORY LIGHT CHAIN 2, SKELETAL MUSCLE ISOFORM; MRLC2;; MYOSIN LIGHT CHAIN 11, REGULATORY; MYL11;; HSRLC Asterisk 617379 MYOSIN XIX; MYO19 MYOSIN HEAD DOMAIN-CONTAINING PROTEIN 1; MYOHD1 Asterisk 617380 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 29; TIMM29 TIM29;; CHROMOSOME 19 OPEN READING FRAME 52; C19ORF52 Asterisk 617381 NUDIX HYDROLASE 16; NUDT16 NUDIX MOTIF 16 Asterisk 617382 START DOMAIN-CONTAINING PROTEIN 10; STARD10 NY-CO-28 Number Sign 617383 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2 Number Sign 617384 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4 Asterisk 617385 ATPase, H+ TRANSPORTING, LYSOSOMAL, 31-KD, V1 SUBUNIT E, ISOFORM 1; ATP6V1E2 VACUOLAR-TYPE PROTON-TRANSLOCATING ATPase SUBUNIT E1; ATP6E1; E1 NULL 617386 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 5, PSEUDOGENE; NR1H5P FARNESOID X-ACTIVATED RECEPTOR, BETA, PSEUDOGENE; FXRB Asterisk 617387 GLUTAMINE-RICH PROTEIN 1; QRICH1 Number Sign 617388 AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK Number Sign 617389 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53 Asterisk 617390 KIAA1958 GENE; KIAA1958 Number Sign 617391 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54 Number Sign 617392 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13 Number Sign 617393 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM Number Sign 617394 SCLEROSING CHOLANGITIS, NEONATAL; NSC Number Sign 617395 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q CDG IIq; CDGIIq Number Sign 617396 ANAUXETIC DYSPLASIA 2; ANXD2 Number Sign 617397 PSEUDO-TORCH SYNDROME 2; PTORCH2 Asterisk 617398 FK506-BINDING PROTEIN 15; FKBP15 FK506-BINDING PROTEIN, 133-KD; FKBP133;; KIAA0674;; WASP- AND FKBP-LIKE PROTEIN; WAFL Asterisk 617399 PEROXISOMAL MEMBRANE PROTEIN 2; PXMP2 PEROXISOMAL MEMBRANE PROTEIN, 22-KD; PMP22 Asterisk 617400 EPOXIDE HYDROLASE 3; EPHX3 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 9; ABHD9;; EH3 Asterisk 617401 EPOXIDE HYDROLASE 4; EPHX4 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 7; ABHD7;; EPOXIDE HYDROLASE-RELATED PROTEIN; EPHXRP;; EH4 Number Sign 617402 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C Number Sign 617403 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D Number Sign 617404 MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID Number Sign 617405 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17 Number Sign 617406 BARDET-BIEDL SYNDROME 21; BBS21 Asterisk 617407 POLYCOMB GROUP RING FINGER PROTEIN 5; PCGF5 Number Sign 617408 DIAMOND-BLACKFAN ANEMIA 16; DBA16 Number Sign 617409 DIAMOND-BLACKFAN ANEMIA 17; DBA17 Asterisk 617410 ZINC FINGER PROTEIN 419; ZNF419 Asterisk 617411 ADP-RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 3; ARFGEF3 BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 3; BIG3;; KIAA1244 Number Sign 617412 BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD MACINNES SYNDROME; MCINS Asterisk 617413 PRUNE EXOPOLYPHOSPHATASE 1; PRUNE1 PRUNE, DROSOPHILA, HOMOLOG OF; PRUNE;; DROSOPHILA-RELATED EXPRESSED SEQUENCE 17; DRES17 Asterisk 617414 RIBOSOMAL PROTEIN L14; RPL14 60S RIBOSOMAL PROTEIN 14 Asterisk 617415 RIBOSOMAL PROTEIN L31; RPL31 60S RIBOSOMAL PROTEIN 31 Asterisk 617416 RIBOSOMAL PROTEIN L3-LIKE; RPL3L 60S RIBOSOMAL PROTEIN L3-LIKE Asterisk 617417 RIBOSOMAL PROTEIN L7-LIKE 1; RPL7L1 60S RIBOSOMAL PROTEIN L7-LIKE 1 Asterisk 617418 WD REPEAT-CONTAINING PROTEIN 59; WDR59 KIAA1923 Asterisk 617419 PROLYL 3-HYDROXYLASE 4; P3H4 SYNAPTONEMAL COMPLEX PROTEIN 65; SC65;; LEPRECAN-LIKE 4; LEPREL4 Asterisk 617420 CHROMOSOME 12 OPEN READING FRAME 66; C12ORF66 Asterisk 617421 INTEGRIN-ALPHA FG-GAP REPEAT-CONTAINING PROTEIN 2; ITFG2 FG-GAP REPEAT-CONTAINING PROTEIN 1; FGGAP1 Asterisk 617422 ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX 2; ADNP2 ADNP HOMEOBOX 2;; KIAA0863 Asterisk 617423 PROLINE-RICH PROTEIN 14; PRR14 Asterisk 617424 WD REPEAT-CONTAINING PROTEIN 26; WDR26 GID COMPLEX, SUBUNIT 7; GID7;; GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 7, S. CEREVISIAE, HOMOLOG OF Number Sign 617425 IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA Asterisk 617426 CYSTEINE-RICH C-TERMINAL 1; CRCT1 NICE1;; CHROMOSOME 1 OPEN READING FRAME 42; C1ORF42 Asterisk 617427 S100 CALCIUM-BINDING PROTEIN A7A; S100A7A S100 CALCIUM-BINDING PROTEIN A15; S100A15;; S100 CALCIUM-BINDING PROTEIN A7-LIKE 1; S100A7L1;; NICE2 Asterisk 617428 CHROMOSOME 1 OPEN READING FRAME 43; C1ORF43 HEPATITIS C VIRUS NS5A-TRANSACTIVATED PROTEIN 4; NS5ATP4;; NICE3;; HSPC012 Asterisk 617429 UBIQUITIN-CONJUGATING ENZYME E2Q FAMILY MEMBER 1; UBE2Q1 GALACTOSYL TRANSFERASE-ASSOCIATED PROTEIN; GTAP;; NICE5 Asterisk 617430 ADHESION G PROTEIN-COUPLED RECEPTOR F1; ADGRF1 G PROTEIN-COUPLED RECEPTOR 110; GPR110 Asterisk 617431 UBIQUITIN-SPECIFIC PEPTIDASE 53; USP53 KIAA1350 Number Sign 617432 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60 Number Sign 617433 RETINITIS PIGMENTOSA 78; RP78 Asterisk 617434 LONG NONCODING RNA HOST2 HOST2 Number Sign 617435 LOPES-MACIEL-RODAN SYNDROME; LOMARS Asterisk 617436 GON7, S. CEREVISIAE, HOMOLOG OF; GON7 CHROMOSOME 14 OPEN READING FRAME 142; C14ORF142 Asterisk 617437 S100 CALCIUM-BINDING PROTEIN A16; S100A16 AGING-ASSOCIATED GENE 13; AAG13 Asterisk 617438 CHROMOBOX HOMOLOG 6; CBX6 Number Sign 617439 CRANIOSYNOSTOSIS 7; CRS7 CRANIOSYNOSTOSIS 7, DIGENIC;; CRS7, DIGENIC Asterisk 617440 PAPILLARY THYROID CARCINOMA SUSCEPTIBILITY CANDIDATE 1 GENE; PTCSC1 NONCODING RNA 197; NCRNA00197 Number Sign 617441 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY Number Sign 617442 PREMATURE OVARIAN FAILURE 13; POF13 Number Sign 617443 BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21 Asterisk 617444 ZINC FINGER PROTEIN 479; ZNF479 KR19 Asterisk 617445 UBIQUITIN-SPECIFIC PEPTIDASE 48; USP48 UBIQUITIN-SPECIFIC PROTEASE 48;; UBIQUITIN-SPECIFIC PEPTIDASE 31, FORMERLY; USP31, FORMERLY;; UBIQUITIN-SPECIFIC PROTEASE 31, FORMERLY Asterisk 617446 ChaC, E. COLI, HOMOLOG OF, 2; CHAC2 CATION TRANSPORT REGULATOR-LIKE PROTEIN 2 Asterisk 617447 PABP-DEPENDENT POLY(A) NUCLEASE 2; PAN2 PAN2 POLY(A)-SPECIFIC RIBONUCLEASE SUBUNIT;; UBIQUITIN-SPECIFIC PROTEASE 52: USP52;; KIAA0710 Asterisk 617448 PABP-DEPENDENT POLY(A) NUCLEASE 3; PAN3 PAN3 POLY(A)-SPECIFIC RIBONUCLEASE SUBUNIT Asterisk 617449 TRANSMEMBRANE PROTEIN 260; TMEM260 CHROMOSOME 14 OPEN READING FRAME 101; C14ORF101 Number Sign 617450 JANSEN-DE VRIES SYNDROME; JDVS INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD, FORMERLY; IDDGIP, FORMERLY Asterisk 617451 ALDO-KETO REDUCTASE FAMILY 1, MEMBER E2; AKR1E2 HUMAN TESTIS-SPECIFIC PROTEIN; HTSP;; TESTIS ALDO-KETO REDUCTASE; TAKR Number Sign 617452 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES; IDDFSDA Asterisk 617453 TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 26; TTC26 INTRAFLAGELLAR TRANSPORT 56, CHLAMYDOMONAS, HOMOLOG OF; IFT56 Asterisk 617454 POLYMERASE III, RNA, SUBUNIT C; POLR3C RNA POLYMERASE III, 62-KD SUBUNIT; RPC62;; RNA POLYMERASE III, SUBUNIT C3; RPC3;; DNA-DIRECTED RNA POLYMERASE III, SUBUNIT C Asterisk 617455 POLYMERASE III, RNA, SUBUNIT F; POLR3F RNA POLYMERASE III, 39-KD SUBUNIT; RPC39;; RNA POLYMERASE III, SUBUNIT C6; RPC6;; DNA-DIRECTED RNA POLYMERASE III, SUBUNIT F Asterisk 617456 POLYMERASE III, RNA, SUBUNIT G; POLR3G RNA POLYMERASE III, 32-KD SUBUNIT; RPC32;; RNA POLYMERASE III, 32-KD SUBUNIT, ALPHA;; RPC32-ALPHA;; RNA POLYMERASE III, SUBUNIT C7; RPC7;; DNA-DIRECTED RNA POLYMERASE III, SUBUNIT G Asterisk 617457 POLYMERASE III, RNA, SUBUNIT G-LIKE; POLR3GL RNA POLYMERASE III, 32-KD SUBUNIT, BETA;; RPC32-BETA;; RNA POLYMERASE III, SUBUNIT C7-LIKE Asterisk 617458 PRKR-INTERACTING PROTEIN 1, IL11-INDUCIBLE; PRKRIP1 C114 Asterisk 617459 TRANSMEMBRANE AND COILED-COIL DOMAIN FAMILY, MEMBER 3; TMCC3 Number Sign 617460 RETINITIS PIGMENTOSA 79; RP79 Asterisk 617461 YBEY METALLOPEPTIDASE; YBEY YbeY, E. COLI, HOMOLOG OF;; CHROMOSOME 21 OPEN READING FRAME 57; C21ORF57 Asterisk 617462 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR-RELATED PROTEIN 1; PPRC1 PGC1-RELATED COACTIVATOR; PRC;; KIAA0595 Asterisk 617463 UNKEMPT FAMILY-LIKE ZINC FINGER; UNKL ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 5-LIKE; ZC3HDC5L; ZC3H5L;; CHROMOSOME 16 OPEN READING FRAME 28; C16ORF28 Asterisk 617464 UNC5 FAMILY C-TERMINAL-LIKE PROTEIN; UNC5CL ZU5 AND DEATH DOMAINS-CONTAINING PROTEIN; ZUD Asterisk 617465 SMALL INTEGRAL MEMBRANE PROTEIN 20; SMIM20 MITOCHONDRIAL TRANSLATION REGULATION ASSEMBLY INTERMEDIATE OF CYTOCHROME c OXIDASE 7; MITRAC7;; CHROMOSOME 4 OPEN READING FRAME 52; C4ORF52 Number Sign 617466 TOWNES-BROCKS SYNDROME 2; TBS2 Asterisk 617467 FERM DOMAIN-CONTAINING PROTEIN 4B; FRMD4B GRP1-SIGNALING PARTNER 1; GRSP1;; KIAA1013 Number Sign 617468 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT; AMCNMY Asterisk 617469 AFG1-LIKE ATPase; AFG1L ATPase FAMILY GENE 1, S. CEREVISIAE, HOMOLOG OF; AFG1;; LACTATION-ELEVATED GENE 1; LACE1 Asterisk 617470 UBIQUITIN-SPECIFIC PEPTIDASE-LIKE 1; USPL1 USP-LIKE 1 Asterisk 617471 SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 12; SERPINA12 VISCERAL ADIPOSE-SPECIFIC SERPIN; VASPIN Asterisk 617472 TENASCIN N; TNN Asterisk 617473 ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT G; ATP5L ATP5JG Asterisk 617474 ZINC FINGER PROTEIN 609; ZNF609 KIAA0295 Number Sign 617475 SPECIFIC GRANULE DEFICIENCY 2; SGD2 Asterisk 617476 CNKSR FAMILY, MEMBER 3; CNKSR3 CONNECTOR ENHANCER OF KSR 3;; CNK, DROSOPHILA, HOMOLOG OF, 3; CNK3 INTERACTION PROTEIN FOR CYTOHESIN EXCHANGE FACTORS 1, INCLUDED; IPCEF1, INCLUDED; IPCEF, INCLUDED;; PIP3E, INCLUDED Asterisk 617477 ZINC FINGER PROTEIN 324; ZNF324 ZF5128 Number Sign 617478 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME; SHDRA Asterisk 617479 SSU2, C. ELEGANS, HOMOLOG OF; SSUH2 SSU2;; CHROMOSOME 3 OPEN READING FRAME 32; C3ORF32;; FLS485 Number Sign 617480 46,XX SEX REVERSAL 4; SRXX4 46,XX SEX REVERSAL, SRY-NEGATIVE Number Sign 617481 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA Asterisk 617482 TP53 TARGET GENE 3; TP53TG3 Asterisk 617483 CORNICHON FAMILY AMPA RECEPTOR AUXILIARY PROTEIN 4; CNIH4 CORNICHON, DROSOPHILA, HOMOLOG OF, 4; CNIH2 Asterisk 617484 GAMETOCYTE-SPECIFIC FACTOR 1; GTSF1 FAMILY WITH SEQUENCE SIMILARITY 112, MEMBER B; FAM112B Asterisk 617485 WD REPEAT- AND FYVE DOMAIN-CONTAINING PROTEIN 3; WDFY3 AUTOPHAGY-LINKED FYVE PROTEIN; ALFY;; BLUE CHEESE, DROSOPHILA, HOMOLOG OF; BCHS Asterisk 617486 G-PATCH DOMAIN-CONTAINING PROTEIN 3; GPATCH3 Asterisk 617487 DNAJ/HSP40 HOMOLOG, SUBFAMILY B, MEMBER 14; DNAJB14 Asterisk 617488 RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 4; RPUSD4 Asterisk 617489 LONG INTERGENIC NONCODING RNA 305; LINC00305 lincRNA 305 Asterisk 617490 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT DELTA; CATSPERD TRANSMEMBRANE PROTEIN 146; TMEM146 Asterisk 617491 NOP2/SUN RNA METHYLTRANSFERASE FAMILY, MEMBER 3; NSUN3 NOL1/NOP2/SUN DOMAIN FAMILY, MEMBER 3 Asterisk 617492 OLFACTOMEDIN 2; OLFM2 NOELIN 2; NOE2 Number Sign 617493 NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM Asterisk 617494 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 2; EML2 EMAP-LIKE 2;; EMAP-RELATED PROTEIN 2; EMAP2;; EMAP-LIKE PROTEIN, 70-KD; ELP70 Asterisk 617495 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A1, CC MOTIF CHEMOKINE-LIKE; FAM19A1 TAFA1 Asterisk 617496 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A2, CC MOTIF CHEMOKINE-LIKE; FAM19A2 TAFA2 Asterisk 617497 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A3, CC MOTIF CHEMOKINE-LIKE; FAM19A3 TAFA3 Asterisk 617498 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A4, CC MOTIF CHEMOKINE-LIKE; FAM19A4 TAFA4 Asterisk 617499 FAMILY WITH SEQUENCE SIMILARITY 19, MEMBER A5, CC MOTIF CHEMOKINE-LIKE; FAM19A5 TAFA5 Asterisk 617500 UROTHELIAL CANCER-ASSOCIATED GENE 1; UCA1 LONG INTERGENIC NONCODING RNA 178; LINC00178;; CUDR Asterisk 617501 LYSINE ACETYLTRANSFERASE 14; KAT14 CRP2-BINDING PARTNER; CRP2BP; CSRP2BP;; ADA2A-CONTAINING COMPLEX SUBUNIT 2; ATAC2 Asterisk 617502 WD REPEAT-CONTAINING PROTEIN 41; WDR41 Asterisk 617503 DENN DOMAIN-CONTAINING PROTEIN 3; DENND3 DENN/MADD DOMAIN-CONTAINING PROTEIN 3;; KIAA0870 Asterisk 617504 SIPA1-LIKE PROTEIN 1; SIPA1L1 E6-TARGETED PROTEIN 1; E6TP1;; KIAA0440 Asterisk 617505 TRANSLOCATION-ASSOCIATED MEMBRANE PROTEIN 1-LIKE 1; TRAM1L1 Number Sign 617506 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2 Number Sign 617507 PEHO-LIKE SYNDROME; PEHOL PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME Asterisk 617508 ZINC FINGER PROTEIN 598; ZNF598 Asterisk 617509 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 8; VWA8 KIAA0564 Asterisk 617510 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT EPSILON; CATSPERE CHROMOSOME 1 OPEN READING FRAME 101; C1ORF101 Asterisk 617511 CATION CHANNEL, SPERM-ASSOCIATED, AUXILIARY SUBUNIT ZETA; CATSPERZ TESTIS-EXPRESSED GENE 40; TEX40 Asterisk 617512 ZINC FINGER PROTEIN 318; ZNF318 TESTICULAR ZINC FINGER; TZF;; ZFP318 Asterisk 617513 OXOGLUTARATE DEHYDROGENASE-LIKE PROTEIN; OGDHL KIAA1290 Number Sign 617514 IMMUNODEFICIENCY 52; IMD52 Asterisk 617515 RHOMBOID DOMAIN-CONTAINING 1; RHBDD1 RHOMBOID-RELATED PROTEIN 4; RRP4;; RHOMBOID-LIKE PROTEIN 4; RHBDL4 Number Sign 617516 STANKIEWICZ-ISIDOR SYNDROME; STISS Asterisk 617517 RIBOSOMAL PROTEIN S6 KINASE C1; RPS6KC1 RIBOSOMAL PROTEIN S6 KINASE-LIKE PROTEIN WITH 2 PSK DOMAINS, 118-KD; RPK118 Asterisk 617518 BSD DOMAIN-CONTAINING PROTEIN 1; BSDC1 Number Sign 617519 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS; NEDHND MYOPATHY, CONGENITAL, WITH NEUROPATHY AND DEAFNESS; CMND Number Sign 617520 MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT; MCPH18 Asterisk 617521 YIP1 DOMAIN FAMILY, MEMBER 1; YIPF1 Asterisk 617522 YIP1 DOMAIN FAMILY, MEMBER 2; YIPF2 Number Sign 617523 NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM Number Sign 617524 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2 Number Sign 617525 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3; EKVP3 Number Sign 617526 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4; EKVP4 Number Sign 617527 NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA Asterisk 617528 PROTEASOME ASSEMBLY CHAPERONE 3; PSMG3 PAC3 Asterisk 617529 FAST KINASE DOMAINS 1; FASTKD1 FAST KINASE DOMAIN-CONTAINING PROTEIN 1;; KIAA1800 Asterisk 617530 FAST KINASE DOMAINS 3; FASTKD3 FAST KINASE DOMAIN-CONTAINING PROTEIN 3 Asterisk 617531 COLLAGEN BETA(1-O)GALACTOSYLTRANSFERASE 1; COLGALT1 GLYCOSYLTRANSFERASE 25 FAMILY, MEMBER 1; GLT25D1;; HYDROXYLYSINE GALACTOSYLTRANSFERASE 1 Number Sign 617532 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF Asterisk 617533 COLLAGEN BETA(1-O)GALACTOSYLTRANSFERASE 2; COLGALT2 GLYCOSYLTRANSFERASE 25 FAMILY, MEMBER 2; GLT25D2;; HYDROXYLYSINE GALACTOSYLTRANSFERASE 2;; KIAA0584 Asterisk 617534 YIP1 DOMAIN FAMILY, MEMBER 4; YIPF4 Asterisk 617535 FAS APOPTOTIC INHIBITORY MOLECULE; FAIM FAIM1 Asterisk 617536 BAI1-ASSOCIATED PROTEIN 2-LIKE 2; BAIAP2L2 PLANAR INTESTINE- AND KIDNEY-SPECIFIC BAR DOMAIN PROTEIN; PINKBAR Number Sign 617537 RAHMAN SYNDROME; RMNS Asterisk 617538 ELONGATION FACTOR-LIKE GTPase 1; EFL1 RIBOSOME ASSEMBLY 1 HOMOLOG; RIA1;; ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 1; EFTUD1;; FAM42A Asterisk 617539 CHLORIDE CHANNEL CLIC-LIKE 1; CLCC1 MID1-RELATED CHLORIDE CHANNEL 1; MCLC Number Sign 617540 PITUITARY ADENOMA 5, MULTIPLE TYPES; PITA5 Asterisk 617541 ANKYRIN REPEAT- AND ZINC FINGER DOMAIN-CONTAINING 1; ANKZF1 ZINC FINGER PROTEIN 744; ZNF744 Number Sign 617542 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; HGPPS2 DEVELOPMENTAL SPLIT-BRAIN SYNDROME Asterisk 617543 POLYCOMB GROUP RING FINGER PROTEIN 3; PCGF3 RING FINGER PROTEIN 3; RNF3;; RNF3A Asterisk 617544 LONG INTERGENIC NONCODING RNA 672; LINC00672 lincRNA 672 Asterisk 617545 MINICHROMOSOME MAINTENANCE DOMAIN-CONTAINING PROTEIN 2; MCMDC2 MCM DOMAIN-CONTAINING PROTEIN 2;; CHROMOSOME 8 OPEN READING FRAME 45; C8ORF45 Asterisk 617546 HELT BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR; HELT HEY-LIKE TRANSCRIPTION FACTOR;; HES-LIKE TRANSCRIPTION FACTOR; HESLIKE; HESL;; MEGANE BASIC HELIX-LOOP-HELIX FACTOR; MGN Number Sign 617547 RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS Asterisk 617548 WAP 4-DISULFIDE CORE DOMAIN 2; WFDC2 HUMAN EPIDIDYMIS PROTEIN 4; HE4;; WAP5 Asterisk 617549 TUMOR PROTEIN p53-INDUCIBLE NUCLEAR PROTEIN 2; TP53INP2 TP53-INDUCIBLE PROTEIN U; PIGU;; DIABETES- AND OBESITY-REGULATED GENE; DOR;; CHROMOSOME 20 OPEN READING FRAME 110; C20ORF110 Asterisk 617550 PROTEASOME ASSEMBLY CHAPERONE 4; PSMG4 PAC4;; CHROMOSOME 6 OPEN READING FRAME 86; C6ORF86 Asterisk 617551 SID1 TRANSMEMBRANE FAMILY, MEMBER 2; SIDT2 Asterisk 617552 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 26; ARHGEF26 SH3 DOMAIN-CONTAINING GUANINE NUCLEOTIDE EXCHANGE FACTOR; SGEF Asterisk 617553 Fc FRAGMENT OF IgG-BINDING PROTEIN; FCGBP FC-GAMMA-BP Asterisk 617554 FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 3; FGD3 ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 5; ZFYVE5 Asterisk 617555 FCH AND DOUBLE SH3 DOMAINS PROTEIN 1; FCHSD1 NERVOUS WRECK, DROSOPHILA, HOMOLOG OF, 2; NWK2 Asterisk 617556 FCH AND DOUBLE SH3 DOMAINS PROTEIN 2; FCHSD2 NERVOUS WRECK, DROSOPHILA, HOMOLOG OF; NWK;; KIAA0769 Number Sign 617557 GABRIELE-DE VRIES SYNDROME; GADEVS Asterisk 617558 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 43; CFAP43 WD REPEAT-CONTAINING PROTEIN 96; WDR96;; CHROMOSOME 10 OPEN READING FRAME 79; C10ORF79 Asterisk 617559 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 44; CFAP44 WD REPEAT-CONTAINING PROTEIN 52; WDR52 Number Sign 617560 SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8 Number Sign 617561 COHEN-GIBSON SYNDROME; COGIS Number Sign 617562 MECKEL SYNDROME 13; MKS13 JOUBERT SYNDROME 29, INCLUDED; JBTS29, INCLUDED Number Sign 617563 OROFACIODIGITAL SYNDROME XVI; OFD16 OFDS XVI;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI Number Sign 617564 MEIER-GORLIN SYNDROME 8; MGORS8 Number Sign 617565 PERRAULT SYNDROME 6; PRLTS6 Asterisk 617566 ZINC FINGER PROTEIN 568; ZNF568 ZFP568 Asterisk 617567 TUMOR PROTEIN D52-LIKE 3; TPD52L3 D55 Asterisk 617568 UPSTREAM TRANSCRIPTION FACTOR FAMILY, MEMBER 3; USF3 Asterisk 617569 KINESIN FAMILY, MEMBER 15; KIF15 KINESIN-LIKE PROTEIN 2; KLP2;; KINESIN-LIKE 7; KNSL7;; NY-BR-62 Asterisk 617570 DAZ-INTERACTING ZINC FINGER PROTEIN 1-LIKE; DZIP1L DZIP1-LIKE;; DAZ-INTERACTING ZINC FINGER PROTEIN 2; DZIP2 Number Sign 617571 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14; ARCI14 Number Sign 617572 EXUDATIVE VITREORETINOPATHY 7; EVR7 Asterisk 617573 C-TYPE LECTIN DOMAIN FAMILY 12, MEMBER B; CLEC12B MACROPHAGE ANTIGEN H Number Sign 617574 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13; ARCI13 Number Sign 617575 NEPHROTIC SYNDROME, TYPE 14; NPHS14 Number Sign 617576 SPERMATOGENIC FAILURE 18; SPGF18 Number Sign 617577 CILIARY DYSKINESIA, PRIMARY, 37; CILD37 CILIARY DYSKINESIA, PRIMARY, 37, WITH OR WITHOUT SITUS INVERSUS Asterisk 617578 FER3, DROSOPHILA, HOMOLOG OF; FERD3L NEURONAL TWIST; NTWIST;; NEPHEW OF ATONAL 3; NATO3;; BASIC HELIX-LOOP-HELIX FAMILY, MEMBER A31; BHLHA31;; PANCREAS-SPECIFIC TRANSCRIPTION FACTOR B; PTFB Asterisk 617579 CLAUDIN 10; CLDN10 OLIGODENDROCYTE-SPECIFIC PROTEIN-LIKE; OSPL;; CLOSTRIDIUM PERFRINGENS ENTEROTOXIN RECEPTOR-LIKE 3; CPETRL3 Asterisk 617580 TETRASPANIN 16; TSPAN16 TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 16; TM4SF16;; TM4B Asterisk 617581 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 2; C2CD2 TRANSMEMBRANE PROTEIN 24-LIKE; TMEM24L;; CHROMOSOME 21 OPEN READING FRAME 25; C21ORF25;; CHROMOSOME 21 OPEN READING FRAME 258; C21ORF258 Asterisk 617582 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 2-LIKE; C2CD2L C2CD2-LIKE;; TRANSMEMBRANE PROTEIN 24; TMEM24 Asterisk 617583 SULFIREDOXIN 1; SRXN1 SRX;; SRX1 Number Sign 617584 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25 Number Sign 617585 IMMUNODEFICIENCY 53; IMD53 Asterisk 617586 FERM, ARHGEF, AND PLECKSTRIN DOMAINS-CONTAINING PROTEIN 2; FARP2 FGD1-RELATED CDC42 GUANINE NUCLEOTIDE EXCHANGE FACTOR; FRG;; PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY C, MEMBER 3; PLEKHC3;; FERM DOMAIN-INCLUDING RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR; FIR;; KIAA0793 Asterisk 617587 SMALL PROLINE-RICH PROTEIN 2D; SPRR2D Asterisk 617588 SMALL PROLINE-RICH PROTEIN 2E; SPRR2E Asterisk 617589 SMALL PROLINE-RICH PROTEIN 2F; SPRR2F Asterisk 617590 SMALL PROLINE-RICH PROTEIN 2G; SPRR2G Number Sign 617591 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC, INCLUDED Number Sign 617592 SPERMATOGENIC FAILURE 19; SPGF19 Number Sign 617593 SPERMATOGENIC FAILURE 20; SPGF20 Asterisk 617594 JHY, MOUSE, HOMOLOG OF; JHY CHROMOSOME 11 OPEN READING FRAME 63; C11ORF63 Number Sign 617595 BIRK-LANDAU-PEREZ SYNDROME; BILAPES Number Sign 617596 MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID MAAI DEFICIENCY;; HYPERSUCCINYLACETONEMIA, MILD; MHSA;; BENIGN HYPERSUCCINYLACETONEMIA; BHSA Asterisk 617597 RETINOL SATURASE; RETSAT Number Sign 617598 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3; MVA3 Number Sign 617599 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55; EIEE55 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14; GPIBD14 Number Sign 617600 MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45 Number Sign 617601 MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46 Number Sign 617602 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM Asterisk 617603 RNA-BINDING MOTIF PROTEIN 24; RBM24 RNA-BINDING REGION-CONTAINING PROTEIN 6; RNPC6 Number Sign 617604 MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA Number Sign 617605 DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71 Number Sign 617606 DEAFNESS, AUTOSOMAL DOMINANT 72; DFNA72 Number Sign 617607 AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B Asterisk 617608 ALPHA KINASE 3; ALPK3 MYOCYTE INDUCTION/DIFFERENTIATION ORIGINATOR; MIDORI;; MUSCLE ALPHA KINASE; MAK;; KIAA1330 Number Sign 617609 NEPHROTIC SYNDROME, TYPE 15; NPHS15 Number Sign 617610 POLYCYSTIC KIDNEY DISEASE 5; PKD5 Asterisk 617611 PICALM-INTERACTING MITOTIC REGULATOR; PIMREG REGULATOR OF CHROMOSOME SEGREGATION 1; RCS1;; FAMILY WITH SEQUENCE SIMILARITY 64, MEMBER A; FAM64A Asterisk 617612 ARMADILLO REPEAT-CONTAINING PROTEIN 9; ARMC9 KIAA1868 Number Sign 617613 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5 Asterisk 617614 SPOUT DOMAIN-CONTAINING METHYLTRANSFERASE 1; SPOUT1 CENTROMERE PROTEIN 32; CENP32;; CHROMOSOME 9 OPEN READING FRAME 114; C9ORF114 Asterisk 617615 TRANSMEMBRANE PROTEIN 258; TMEM258 CHROMOSOME 11 OPEN READING FRAME 10; C11ORF10 Number Sign 617616 SKRABAN-DEARDORFF SYNDROME; SKDEAS INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES Asterisk 617617 SPRY4 INTRONIC TRANSCRIPT 1, NONCODING; SPRY4IT1 LONG NONCODING RNA SPRY4IT1;; lncRNA SPRY4IT1;; SPRIGHTLY Asterisk 617618 TOG ARRAY REGULATOR OF AXONEMAL MICROTUBULES 1; TOGARAM1 FAMILY WITH SEQUENCE SIMILARITY 179, MEMBER B; FAM179B;; CRESCERIN 1;; KIAA0423 Asterisk 617619 MISATO 1, MITOCHONDRIAL DISTRIBUTION AND MORPHOLOGY REGULATOR; MSTO1 MISATO, DROSOPHILA, HOMOLOG OF Asterisk 617620 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 3; LRRC3 CHROMOSOME 21 OPEN READING FRAME 102; C21ORF102;; CHROMOSOME 21 OPEN READING FRAME 30; C21ORF30 Asterisk 617621 PAX3- AND PAX7-BINDING PROTEIN 1; PAXBP1 PAX3/7BP;; GC-RICH SEQUENCE DNA-BINDING FACTOR 1; GCFC1;; GCFC;; CHROMOSOME 21 OPEN READING FRAME 66; C21ORF66 Number Sign 617622 JOUBERT SYNDROME 30; JBTS30 Asterisk 617623 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E1; SPDYE1 SPDYE;; SPEEDY B2-LIKE 2; SPDYB2L2;; RAPID INDUCER OF G2/M PROGRESSION IN OOCYTES 1; RINGO1;; WBSCR19 Asterisk 617624 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E2; SPDYE2 SPEEDY B2-LIKE 1; SPDYB2L1 Asterisk 617625 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E3; SPDYE3 SPEEDY B2; SPDYB2 Number Sign 617626 FIBROMATOSIS, GINGIVAL, 5; GINGF5 GGF5;; FIBROMATOSIS, GINGIVAL, HEREDITARY, 5; HGF5 Asterisk 617627 SMALL REGULATORY POLYPEPTIDE OF AMINO ACID RESPONSE; SPAAR SPAR;; LONG INTERGENIC NONCODING RNA 961; LINC00961;; lincRNA 961 Asterisk 617628 SPEEDY/RINGO CELL CYCLE REGULATOR FAMILY, MEMBER E4; SPDYE4 SPEEDY B1 Number Sign 617629 SCHIZOPHRENIA 19; SCZD19 SCHIZOPHRENIA 19 WITH OR WITHOUT AN AFFECTIVE DISORDER Asterisk 617630 G PROTEIN-COUPLED RECEPTOR 37-LIKE 1; GPR37L1 ENDOTHELIN TYPE B RECEPTOR-LIKE PROTEIN 2; ETBRLP2 Asterisk 617631 IQ DOMAIN-CONTAINING PROTEIN E; IQCE KIAA1023 Asterisk 617632 EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 7; EFCAB7 KIAA1799 Number Sign 617633 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26 Asterisk 617634 COILED-COIL GLUTAMATE-RICH PROTEIN 2; CCER2 Number Sign 617635 MENTAL RETARDATION, AUTOSOMAL DOMINANT 47; MRD47 Asterisk 617636 GPR1 ANTISENSE RNA; GPR1AS G PROTEIN-COUPLED RECEPTOR 1, ANTISENSE RNA Number Sign 617637 DEAFNESS, AUTOSOMAL RECESSIVE 106; DFNB106 Number Sign 617638 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B ATOPIC DERMATITIS, ELEVATED IgE, AND EOSINOPHILIA Number Sign 617639 DEAFNESS, AUTOSOMAL RECESSIVE 107; DFNB107 Asterisk 617640 SUPPRESSOR OF TUMORIGENICITY 7-LIKE PROTEIN; ST7L ST7-RELATED PROTEIN; ST7R Number Sign 617641 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED Number Sign 617642 POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7 Number Sign 617643 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES; CADEDS Number Sign 617644 SPERMATOGENIC FAILURE 21; SPGF21 Asterisk 617645 KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 4; KBTBD4 HEMATOPOIETIC STEM/PROGENITOR CELL-EXPRESSED GENE 252; HSPC252;; BKLHD4 Asterisk 617646 BAH DOMAIN- AND COILED-COIL DOMAIN-CONTAINING PROTEIN 1; BAHCC1 BROMO ADJACENT HOMOLOGY DOMAIN-CONTAINING PROTEIN 2; BAHD2;; KIAA1447 Asterisk 617647 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 18, NONCODING; PCAT18 LONG INTERGENIC NONCODING RNA 1092; LINC01092;; lincRNA 1092 Asterisk 617648 BMP2-INDUCIBLE KINASE; BMP2K BIKE Asterisk 617649 UBIQUITIN-CONJUGATING ENZYME E2O; UBE2O UBIQUITIN-CONJUGATING ENZYME E2, 230-KD; UBE2-230K;; KIAA1734 Asterisk 617650 PTGS2 ANTISENSE NFKB1 COMPLEX-MEDIATED EXPRESSION REGULATOR RNA, NONCODING; PACERR LONG NONCODING RNA PACERR;; lnRNA PACERR;; p50-ASSOCIATED COX2 EXTRAGENIC RNA; PACER;; PTGS2 ANTISENSE RNA 1; PTGS2AS1 Asterisk 617651 EQTN, MOB3B, IFNK, AND C9ORF72 ENHANCER RNA I, NONCODING EMICERI; EMICER1;; LONG NONCODING RNA EMICERI;; lncRNA EMICERI Asterisk 617652 MOB KINASE ACTIVATOR 3B; MOB3B MOB1 DOMAIN-CONTAINING PROTEIN; MOB1D;; MOB KINASE ACTIVATOR-LIKE 2B; MOBKL2B;; CHROMOSOME 9 OPEN READING FRAME 35; C9ORF35 Asterisk 617653 EQUATORIN; EQTN ACROSOME FORMATION-ASSOCIATED FACTOR; AFAF;; SPERM ACROSOME-ASSOCIATED PROTEIN 8; SPACA8;; CHROMOSOME 9 OPEN READING FRAME 11; C9ORF11 Number Sign 617654 DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108 Asterisk 617655 PECANEX, DROSOPHILA, HOMOLOG OF, 1; PCNX1 KIAA0805;; KIAA0995 Asterisk 617656 PECANEX, DROSOPHILA, HOMOLOG OF, 2; PCNX2 KIAA0435 Asterisk 617657 PECANEX, DROSOPHILA, HOMOLOG OF, 3; PCNX3 Asterisk 617658 SULFIDE QUINONE OXIDOREDUCTASE; SQOR SULFIDE DEHYDROGENASE-LIKE; SQRDL;; SQR Asterisk 617659 LIPOYL(OCTANOYL) TRANSFERASE 2; LIPT2 Number Sign 617660 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 CONGENITAL NAD DEFICIENCY DISORDER 1;; 3-HYDROXYANTHRANILIC ACIDEMIA Number Sign 617661 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2; VCRL2 CONGENITAL NAD DEFICIENCY DISORDER 2;; KYNURENINASE DEFICIENCY, COMPLETE Number Sign 617662 JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM Number Sign 617663 DEAFNESS, AUTOSOMAL DOMINANT 73; DFNA73 Number Sign 617664 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32 Number Sign 617665 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56; EIEE56 Number Sign 617666 FRASER SYNDROME 2; FRASRS2 Number Sign 617667 FRASER SYNDROME 3; FRASRS3 Number Sign 617668 ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA LIPOYLTRANSFERASE 2 DEFICIENCY; LIPT2D Number Sign 617669 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY; PEBAS Asterisk 617670 MEIOSIS-SPECIFIC PROTEIN WITH OB DOMAINS; MEIOB Number Sign 617671 HELIX SYNDROME; HELIX HYPOHIDROSIS, ELECTROLYTE IMBALANCE, LACRIMAL GLAND DYSFUNCTION, ICHTHYOSIS, AND XEROSTOMIA Number Sign 617672 NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY; CONDBA Asterisk 617673 SPERMATOGENESIS-ASSOCIATED PROTEIN 22; SPATA22 Asterisk 617674 STRESS-ASSOCIATED ENDOPLASMIC RETICULUM PROTEIN 1; SERP1 RIBOSOME-ASSOCIATED MEMBRANE PROTEIN 4; RAMP4 Number Sign 617675 MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT Asterisk 617676 PROTEASOME 26S SUBUNIT, NON-ATPase, 3; PSMD3 PROTEASE 26S, SUBUNIT 3; S3;; p58;; RPN3 Asterisk 617677 ZO2-ASSOCIATED SPECKLE PROTEIN ZASP Asterisk 617678 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 2, NONCODING; PCAT2 PCA2;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 4; CARLO4;; lncRNA CARLO4 Asterisk 617679 KELCH-LIKE 20; KLHL20 KELCH-LIKE ECT2-INTERACTING PROTEIN; KLEIP;; KELCH-LIKE PROTEIN X; KLHLX Asterisk 617680 SSU72, S. CEREVISIAE, HOMOLOG OF; SSU72 RNA POLYMERASE II CTD PHOSPHATASE SSU72 Number Sign 617681 BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2 Number Sign 617682 PILAROWSKI-BJORNSSON SYNDROME; PILBOS DEVELOPMENTAL DELAY AND SPEECH APRAXIA WITH OR WITHOUT SEIZURES Asterisk 617683 EGF-LIKE, FIBRONECTIN TYPE III, AND LAMININ G DOMAINS-CONTAINING PROTEIN; EGFLAM PIKACHURIN; PIKA;; AGRIN-LIKE PROTEIN; AGRNL; AGRINL Asterisk 617684 Ly1 ANTIBODY-REACTIVE PROTEIN, MOUSE, HOMOLOG OF; LYAR Asterisk 617685 CADHERIN 26; CDH26 Number Sign 617686 PITUITARY ADENOMA 3, MULTIPLE TYPES; PITA3 Asterisk 617687 TBC1 DOMAIN FAMILY, MEMBER 23; TBC1D23 Asterisk 617688 PROSTATE ANDROGEN-REGULATED MUCIN-LIKE PROTEIN 1; PARM1 PROSTATIC ANDROGEN-REPRESSED MESSAGE 1;; CASTRATION-INDUCED PROSTATIC APOPTOSIS-RELATED PROTEIN 1; CIPAR1 Asterisk 617689 COLD-SHOCK DOMAIN-CONTAINING PROTEIN C2; CSDC2 PIPPIN Number Sign 617690 OVARIAN DYSGENESIS 5; ODG5 Number Sign 617691 SPINOCEREBELLAR ATAXIA 44; SCA44 Asterisk 617692 PR DOMAIN-CONTAINING PROTEIN 15; PRDM15 PR/SET DOMAIN PROTEIN 15;; ZINC FINGER PROTEIN 298; ZNF298 Asterisk 617693 VITRIN; VIT VIT1 Number Sign 617694 AL KAISSI SYNDROME; ALKAS GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY Number Sign 617695 PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11 Asterisk 617696 LONG INTERGENIC NONCODING RNA 1488; LINC01488 lincRNA 1488;; CCND1 UPSTREAM INTERGENIC DNA REPAIR 1, NONCODING; CUPID1;; BREAST CANCER-ASSOCIATED TRANSCRIPT 8; BRCAT8 Asterisk 617697 CCND1 UPSTREAM INTERGENIC DNA REPAIR 2, NONCODING LONG INTERGENIC NONCODING RNA CUPID2; CUPID2;; lincRNA CUPID2 Number Sign 617698 3-METHYLGLUTACONIC ACIDURIA, TYPE IX; MGCA9 Asterisk 617699 GID COMPLEX, SUBUNIT 4; GID4 GLUCOSE-INDUCED DEGRADATION-DEFICIENT PROTEIN 4, S. CEREVISIAE, HOMOLOG OF;; VACUOLAR IMPORT AND DEGRADATION PROTEIN 24; VID24;; CHROMOSOME 17 OPEN READING FRAME 39; C17ORF39 Asterisk 617700 UBIQUITIN-CONJUGATING ENZYME E2F; UBE2F NEDD8-CONJUGATING ENZYME 2; NCE2 Asterisk 617701 CANCER SUSCEPTIBILITY CANDIDATE 8, NONCODING; CASC8 LONG INTERGENIC NONCODING RNA 860; LINC00860;; lincRNA 860;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 1; CARLO1 Asterisk 617702 CANCER SUSCEPTIBILITY CANDIDATE 21, NONCODING; CASC21 LONG INTERGENIC NONCODING RNA 1244; LINC01244;; lincRNA 1244;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 2; CARLO2 Asterisk 617703 CANCER SUSCEPTIBILITY CANDIDATE 19, NONCODING; CASC19 LONG INTERGENIC NONCODING RNA 1245; LINC01245;; lincRNA 1245;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 6; CARLO6 Asterisk 617704 CANCER SUSCEPTIBILITY CANDIDATE 11, NONCODING; CASC11 LONG INTERGENIC NONCODING RNA 990; LINC00990;; lincRNA 990;; CANCER-ASSOCIATED REGION LONG NONCODING RNA 7; CARLO7 Asterisk 617705 COLON CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; CCAT1 CANCER-ASSOCIATED REGION LONG NONCODING RNA 5; CARLO5;; lncRNA CARLO5 Number Sign 617706 SPERMATOGENIC FAILURE 22; SPGF22 Number Sign 617707 SPERMATOGENIC FAILURE 23; SPGF23 Asterisk 617708 CELL DIVISION CYCLE 123; CDC123 D123 Number Sign 617709 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES; NEDMAS Number Sign 617710 NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS Number Sign 617711 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1 Number Sign 617712 OOCYTE MATURATION DEFECT 3; OOMD3 Number Sign 617713 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33 Asterisk 617714 CAVEOLAE-ASSOCIATED PROTEIN 4; CAVIN4 MUSCLE-RESTRICTED COILED-COIL PROTEIN; MURC Asterisk 617715 MAM AND LDL RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 1; MALRD1 CHROMOSOME 10 OPEN READING FRAME 112; C10ORF112;; DIET1 Asterisk 617716 RHO GTPase-ACTIVATING PROTEIN 44; ARHGAP44 RHOGAP INTERACTING WITH CIP4 HOMOLOGS 2; RICH2;; RHO-TYPE GTPase-ACTIVATING PROTEIN 2;; KIAA0672 Number Sign 617717 AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA Number Sign 617718 PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID Number Sign 617719 EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 Asterisk 617720 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 42; PPP1R42 TESTIS LEUCINE-RICH REPEAT PROTEIN; TLRR;; LEUCINE-RICH REPEAT-CONTAINING PROTEIN 67; LRRC67 Number Sign 617721 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; HMN9 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX; DHMN9 Asterisk 617722 THIOREDOXIN-LIKE 4B; TXNL4B DIM1-LIKE PROTEIN; DLP;; DIM2 Asterisk 617723 RIBOSOMAL RNA-PROCESSING PROTEIN 12, S. CEREVISIAE, HOMOLOG OF; RRP12 KIAA0690 Asterisk 617724 TSC22 DOMAIN FAMILY, MEMBER 2; TSC22D2 KIAA0669 Asterisk 617725 FUCOSE MUTAROTASE; FUOM FUCM;; FucU, E. COLI, HOMOLOG OF; FUCU Asterisk 617726 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 19; CARD19 BCL10-INTERACTING CARD PROTEIN; BINCARD;; CHROMOSOME 9 OPEN READING FRAME 89; C9ORF89 Asterisk 617727 TRANSMEMBRANE 9 SUPERFAMILY, MEMBER 4; TM9SF4 KIAA0255;; PHG1A, DICTYOSTELIUM, HOMOLOG OF Asterisk 617728 CENTROSOMAL PROTEIN, 295-KD; CEP295 KIAA1731 Number Sign 617729 GALLOWAY-MOWAT SYNDROME 3; GAMOS3 Number Sign 617730 GALLOWAY-MOWAT SYNDROME 4; GAMOS4 Number Sign 617731 GALLOWAY-MOWAT SYNDROME 5; GAMOS5 Number Sign 617732 FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION; FPVEPD Asterisk 617733 ZINC FINGER PROTEIN 518A; ZNF518A KIAA0335 Asterisk 617734 ZINC FINGER PROTEIN 518B; ZNF518B KIAA1729 Asterisk 617735 CHROMOSOME 10 OPEN READING FRAME 90; C10ORF90 FRAGILE SITE-ASSOCIATED TUMOR SUPPRESSOR; FATS Asterisk 617736 MORN REPEAT-CONTAINING PROTEIN 4; MORN4 MEMBRANE OCCUPATION AND RECOGNITION NEXUS PROTEIN 4;; RETINOPHILIN, DROSOPHILA, HOMOLOG OF; RTP;; UNDERTAKER, DROSOPHILA, HOMOLOG OF; UTA Asterisk 617737 SPHINGOMYELIN PHOSPHODIESTERASE, ACID-LIKE, 3B; SMPDL3B ACID SPHINGOMYELINASE-LIKE PHOSPHODIESTERASE 3B; ASML3B;; ASMLPD Asterisk 617738 KELCH REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 6; KBTBD6 Asterisk 617739 KELCH REPEAT- AND BTB DOMAIN-CONTAINING PROTEIN 7; KBTBD7 Asterisk 617740 V-SET AND IMMUNOGLOBULIN DOMAINS-CONTAINING PROTEIN 10-LIKE; VSIG10L VSIG10-LIKE PROTEIN Asterisk 617741 WD REPEAT-CONTAINING PROTEIN 20; WDR20 Asterisk 617742 KAT8 REGULATORY NSL COMPLEX, SUBUNIT 3; KANSL3 NONSPECIFIC LETHAL 3 HOMOLOG; NSL3;; KIAA1310 Number Sign 617743 OOCYTE MATURATION DEFECT 4; OOMD4 Number Sign 617744 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH Asterisk 617745 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 12; MFSD12 PP3501 Number Sign 617746 SWEENEY-COX SYNDROME; SWCOS Asterisk 617747 NUCLEAR BODY PROTEIN SP140-LIKE; SP140L Asterisk 617748 TUDOR DOMAIN-CONTAINING PROTEIN 5; TDRD5 TUDOR3 Number Sign 617749 ACTN3 DEFICIENCY ALPHA-ACTININ-3 DEFICIENCY SPRINTING PERFORMANCE, INCLUDED Asterisk 617750 LIM AND CALPONIN HOMOLOGY DOMAINS-CONTAINING PROTEIN 1; LIMCH1 LIMCH1A;; LMO7B Number Sign 617751 MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48 Number Sign 617752 MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49 Asterisk 617753 RIO KINASE 1; RIOK1 RIO1 Asterisk 617754 RIO KINASE 2; RIOK2 RIO2 Number Sign 617755 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL Number Sign 617756 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5; EKVP5 Number Sign 617757 JOUBERT SYNDROME 32; JBTS32 Asterisk 617758 ZINC FINGER PROTEIN 692; ZNF692 ZFP692;; AICAR-RESPONSIVE ELEMENT-BINDING PROTEIN; AREBP Asterisk 617759 RNA PSEUDOURIDYLATE SYNTHASE DOMAIN-CONTAINING PROTEIN 3; RPUSD3 Number Sign 617760 MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6 Number Sign 617761 JOUBERT SYNDROME 31; JBTS31 Number Sign 617762 LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO Number Sign 617763 SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF Asterisk 617764 ZYG11-RELATED CELL CYCLE REGULATOR; ZER1 ZER1, C. ELEGANS, HOMOLOG OF;; ZYG11B-LIKE PROTEIN; ZYG11BL;; ZYG;; CHROMOSOME 9 OPEN READING FRAME 60; C9ORF60 Number Sign 617765 IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 Asterisk 617766 FAMILY WITH SEQUENCE SIMILARITY 192, MEMBER A; FAM192A NEFA-INTERACTING NUCLEAR PROTEIN 30; NIP30;; CHROMOSOME 16 OPEN READING FRAME 94; C16ORF94 Number Sign 617767 JOUBERT SYNDROME 33; JBTS33 Number Sign 617768 KLEEFSTRA SYNDROME 2; KLEFS2 Number Sign 617769 SPINOCEREBELLAR ATAXIA 45; SCA45 Number Sign 617770 SPINOCEREBELLAR ATAXIA 46; SCA46 SPINOCEREBELLAR ATAXIA, 46, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY Number Sign 617771 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57; EIEE57 Number Sign 617772 DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34 Number Sign 617773 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 ALWADEI SYNDROME Asterisk 617774 LON PEPTIDASE 2, PEROXISOMAL; LONP2 PEROXISOMAL LON PROTEASE; PLON;; LON PROTEASE 2;; PSLON Asterisk 617775 CHROMOSOME 10 OPEN READING FRAME 99; C10ORF99 COLON-DERIVED SUSD2-BINDING FACTOR; CSBF;; ANTIMICROBIAL PEPTIDE OF 57 AMINO ACIDS; AP57 Asterisk 617776 BAGE FAMILY, MEMBER 2; BAGE2 B MELANOMA ANTIGEN 2 Asterisk 617777 BAGE FAMILY, MEMBER 3; BAGE3 B MELANOMA ANTIGEN 3 Asterisk 617778 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 15; TXNDC15 CHROMOSOME 5 OPEN READING FAME 14; C5ORF14;; BUNKER GEAR, DROSOPHILA, HOMOLOG OF; BUG Asterisk 617779 TRANSMEMBRANE PROTEIN 256; TMEM256 CHROMOSOME 17 OPEN READING FRAME 61; C17ORF61 Number Sign 617780 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY Number Sign 617781 RETINITIS PIGMENTOSA 80; RP80 Asterisk 617782 GREB1-LIKE PROTEIN; GREB1L CHROMOSOME 18 OPEN READING FRAME 6; C18ORF6;; KIAA1772 Number Sign 617783 NEPHROTIC SYNDROME, TYPE 16; NPHS16 Number Sign 617784 FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW Asterisk 617785 PAPILIN, PROTEOGLYCAN-LIKE SULFATED GLYCOPROTEIN; PAPLN PAPILIN, DROSOPHILA, HOMOLOG OF; PPN Asterisk 617786 CHAPERONIN CONTAINING T-COMPLEX POLYPEPTIDE 1, SUBUNIT 8; CCT8 CHAPERONIN CONTAINING TCP1, SUBUNIT 8;; CCT-THETA; CCTQ;; KIAA0002 Number Sign 617787 MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50 Number Sign 617788 MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51 Asterisk 617789 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 8; TXNDC8 SPERM-SPECIFIC THIOREDOXIN 3; SPTRX3 Asterisk 617790 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 2; TXNDC2 SPERM-SPECIFIC THIOREDOXIN 1; SPTRX; SPTRX1 Asterisk 617791 LEUCINE-RICH REPEAT- AND COILED-COIL DOMAIN-CONTAINING CENTROSOMAL PROTEIN 1; LRRCC1 CENTROSOMAL LEUCINE-RICH REPEAT- AND COILED-COIL DOMAIN-CONTAINING PROTEIN; CLERK;; KIAA1764 Asterisk 617792 THIOREDOXIN DOMAIN-CONTAINING PROTEIN 11; TXNDC11 EF-HAND-BINDING PROTEIN 1; EFP1 Asterisk 617793 EEF1A LYSINE METHYLTRANSFERASE 1; EEF1AKMT1 N6 ADENINE-SPECIFIC DNA METHYLTRANSFERASE 2; N6AMT2 Asterisk 617794 EEF1A LYSINE METHYLTRANSFERASE 2; EEF1AKMT2 METHYLTRANSFERASE-LIKE 10; METTL10 Asterisk 617795 ELONGIN BC- AND POLYCOMB REPRESSIVE COMPLEX 2-ASSOCIATED PROTEIN; EPOP CHROMOSOME 17 OPEN READING FRAME 96; C17ORF96 Number Sign 617796 MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52 Asterisk 617797 SRC-RELATED KINASE LACKING C-TERMINAL REGULATORY TYROSINE AND N-TERMINAL MYRISTYLATION SITES; SRMS SRM;; CHROMOSOME 20 OPEN READING FRAME 148; C20ORF148 Number Sign 617798 MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53 Number Sign 617799 MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54 Number Sign 617800 MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19 Asterisk 617801 CYCLASE-ASSOCIATED ACTIN CYTOSKELETON REGULATORY PROTEIN 1; CAP1 ADENYLYL CYCLASE-ASSOCIATED PROTEIN 1;; CAP Number Sign 617802 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY; NDMSCA Asterisk 617803 TRANSMEMBRANE PROTEIN 26; TMEM26 Number Sign 617804 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL Number Sign 617805 RENAL HYPODYSPLASIA/APLASIA 3; RHDA3 Asterisk 617806 TRANSMEMBRANE PROTEIN 86B; TMEM86B LYSOPLASMALOGENASE Number Sign 617807 NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW Number Sign 617808 COFFIN-SIRIS SYNDROME 6; CSS6 Number Sign 617809 GELEOPHYSIC DYSPLASIA 3; GPHYSD3 Number Sign 617810 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA Asterisk 617811 DNA REPLICATION REGULATOR AND SPLICEOSOMAL FACTOR SMU1; SMU1 BRAIN-ENRICHED WD-REPEAT PROTEIN; BWD Asterisk 617812 SOLUTE CARRIER FAMILY 35, MEMBER G2; SLC35G2 TRANSMEMBRANE PROTEIN 22; TMEM22 Asterisk 617813 TRANSMEMBRANE PROTEIN 88; TMEM88 Asterisk 617814 TRANSMEMBRANE PROTEIN 95; TMEM95 Asterisk 617815 POLYMERASE III, RNA, SUBUNIT E; POLR3E SXL INTERACTOR; SIN;; KIAA1452 Number Sign 617816 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16; GPIBD16 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62; MRT62 Asterisk 617817 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 2; TUBGCP2 GAMMA-TUBULIN COMPLEX PROTEIN 2; GCP2;; GAMMA RING COMPLEX PROTEIN, 103-KD; GRIP103;; SPC97, S. POMBE, HOMOLOG OF; SPC97;; ALP4, S. CEREVISIAE, HOMOLOG OF; ALP4 Asterisk 617818 TUBULIN-GAMMA COMPLEX-ASSOCIATED PROTEIN 3; TUBGCP3 GAMMA-TUBULIN COMPLEX PROTEIN 3; GCP3;; GAMMA RING COMPLEX PROTEIN, 104-KD; GRIP104;; SPC98, S. POMBE, HOMOLOG OF; SPC98;; ALP6, S. CEREVISIAE, HOMOLOG OF; ALP6 Asterisk 617819 RAL GUANINE NUCLEOTIDE EXCHANGE FACTOR WITH PH DOMAIN AND SH3 DOMAIN-BINDING MOTIF 2; RALGPS2 RAL GEF WITH PH DOMAIN AND SH3-BINDING MOTIF 2;; FLJ10244 Number Sign 617820 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR Number Sign 617821 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2; EDSARTH2 EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT; EDS7B;; EDS VIIB Number Sign 617822 ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS Asterisk 617823 PWWP DOMAIN-CONTAINING PROTEIN 2A; PWWP2A Asterisk 617824 BROMODOMAIN AND WD REPEAT DOMAIN-CONTAINING PROTEIN 1; BRWD1 WD REPEAT-CONTAINING PROTEIN 9; WRD9;; CHROMOSOME 21 OPEN READING FRAME 107; C21ORF107 Number Sign 617825 GLUCOCORTICOID DEFICIENCY 5; GCCD5 Asterisk 617826 UNC50, INNER NUCLEAR MEMBRANE RNA-BINDING PROTEIN; UNC50 UNC50, C. ELEGANS, HOMOLOG OF;; UNCL;; GEA1-6 MEMBRANE-ASSOCIATED HIGH-COPY SUPPRESSOR 1, S. CEREVISIAE, HOMOLOG OF; GMH1 Number Sign 617827 IMMUNODEFICIENCY 55; IMD55 Asterisk 617828 ZINC FINGER HOMEOBOX 2; ZFHX2 ZFH2;; ZINC FINGER HOMEOBOX 5; ZFH5;; ZINC FINGER PROTEIN 409; ZNF409;; KIAA1056;; KIAA1762 Number Sign 617829 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2 Number Sign 617830 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58 Number Sign 617831 MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55 Asterisk 617832 SENTAN, CILIA APICAL STRUCTURAL PROTEIN; SNTN S100A-LIKE PROTEIN; S100AL;; S100A1L Asterisk 617833 ZFHX2 ANTISENSE RNA 1, NONCODING; ZFHX2AS1 ZFH5 ANTISENSE RNA Asterisk 617834 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY J, MEMBER 1; PLEKHJ1 GUANINE NUCLEOTIDE-RELEASING PROTEIN X; GNRPX Asterisk 617835 PYRUVATE DEHYDROGENASE PHOSPHATASE REGULATORY SUBUNIT; PDPR KIAA1990 Number Sign 617836 DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM Asterisk 617837 GDNF FAMILY RECEPTOR ALPHA-LIKE PROTEIN; GFRAL GRAL Asterisk 617838 FAMILY WITH SEQUENCE SIMILARITY 234, MEMBER B; FAM234B KIAA1467 Number Sign 617839 AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23 Asterisk 617840 tRNA ISOPENTENYLTRANSFERASE 1; TRIT1 ISOPENTENYLTRANSFERASE; IPT Asterisk 617841 PROTEASOME SUBUNIT, ALPHA-TYPE, 8; PSMA8 PSMA7-LIKE; PSMA7L Asterisk 617842 PROTEASOME 26S SUBUNIT, NON-ATPase, 1; PSMD1 p112 Asterisk 617843 RWD DOMAIN-CONTAINING PROTEIN 2B; RWDD2B CHROMOSOME 21 OPEN READING FRAME 6; C21ORF6 Asterisk 617844 PROTEASOME 26S SUBUNIT, NON-ATPase, 8; PSMD8 p31 Asterisk 617845 MAJOR FACILITATOR SUPERFAMILY DOMAIN-CONTAINING PROTEIN 2B; MFSD2B Asterisk 617846 PHD FINGER PROTEIN 5A; PHF5A SPLICING FACTOR 3B, SUBUNIT 7; SF3B7;; SF3B, 14-KD SUBUNIT, B; SF3B14B Asterisk 617847 SPLICING FACTOR 3B, SUBUNIT 5; SF3B5 SF3B, 10-KD SUBUNIT; SF3B10 Asterisk 617848 DEAD BOX HELICASE 46; DDX46 DEAD BOX PROTEIN 46;; PRP5, S. CEREVISIAE, HOMOLOG OF; PRP5;; KIAA0801 Asterisk 617849 U2 SMALL NUCLEAR RIBONUCLEOPROTEIN-ASSOCIATED SURP DOMAIN-CONTAINING PROTEIN; U2SURP U2 snRNP-ASSOCIATED SURP DOMAIN-CONTAINING PROTEIN;; SER/ARG-RICH DOMAIN PROTEIN, 140-KD; SR140;; KIAA0332 Asterisk 617850 SERTA DOMAIN-CONTAINING PROTEIN 1; SERTAD1 TRANSCRIPTIONAL REGULATOR INTERACTING WITH PHD-BROMODOMAIN 1; TRIPBR1;; SEI1;; p34(SEI1) Asterisk 617851 SERTA DOMAIN-CONTAINING PROTEIN 2; SERTAD2 TRANSCRIPTIONAL REGULATOR INTERACTING WITH PHD-BROMODOMAIN 2; TRIPBR2;; KIAA0127 Asterisk 617852 SEC23-INTERACTING PROTEIN; SEC23IP p125 Asterisk 617853 SMALL VASOHIBIN-BINDING PROTEIN; SVBP COILED-COIL DOMAIN-CONTAINING PROTEIN 23; CCDC23 Number Sign 617854 MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56 Asterisk 617855 BASE METHYLTRANSFERASE OF 25S rRNA 2, S. CEREVISIAE, HOMOLOG OF; BMT2 S-ADENOSYLMETHIONINE SENSOR UPSTREAM OF MTORC1; SAMTOR;; CHROMOSOME 7 OPEN READING FRAME 60; C7ORF60 Asterisk 617856 THYMOCYTE SELECTION-ASSOCIATED PROTEIN FAMILY, MEMBER 2; THEMIS2 CHROMOSOME 1 OPEN READING FRAME 38; C1ORF38;; INDUCED BY CONTACT WITH BASEMENT MEMBRANE 1; ICB1 Asterisk 617857 PROTEASOME 26S SUBUNIT, NON-ATPase, 6; PSMD6 PROTEASOME 26S, SUBUNIT 10, 44-KD;; p44S10;; KIAA0107 Asterisk 617858 PROTEASOME INHIBITOR SUBUNIT 1; PSMF1 PROTEASOME INHIBITOR, 31-KD; PI31 Asterisk 617859 DISCS LARGE-ASSOCIATED PROTEIN 5; DLGAP5 DISCS LARGE, DROSOPHILA, HOMOLOG OF, 7; DLG7;; HEPATOMA-UPREGULATED PROTEIN; HURP;; KIAA0008 Asterisk 617860 SURFACTANT-ASSOCIATED PROTEIN 3; SFTA3 SURFACTANT PROTEIN H; SPH Asterisk 617861 MYB-RELATED TRANSCRIPTION FACTOR, PARTNER OF PROFILIN; MYPOP PARTNER OF PROFILIN, 42-KD;; p42(POP) Number Sign 617862 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA Number Sign 617864 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA Number Sign 617865 NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA Number Sign 617866 SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 Asterisk 617867 TUMOR PROTEIN p53-INDUCIBLE PROTEIN 11; TP53I11 p53-INDUCIBLE GENE 11; PIG11 Asterisk 617868 NUCLEAR ASSEMBLY FACTOR 1 RIBONUCLEOPROTEIN; NAF1 NAF1, S. CEREVISIAE, HOMOLOG OF Asterisk 617869 NK1 HOMEOBOX 1; NKX1-1 SAX2 Asterisk 617870 CENTROSOMAL PROTEIN 350; CEP350 CENTROSOME-ASSOCIATED PROTEIN, 350-KD; CAP350;; KIAA0480 Number Sign 617871 RETINITIS PIGMENTOSA 81; RP81 Number Sign 617872 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34; COXPD34 Number Sign 617873 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35 Number Sign 617874 POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3 Number Sign 617875 POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4 Asterisk 617876 RNA, U7 SMALL NUCLEAR, 1; RNU7-1 RNU7;; U7.1 Number Sign 617877 SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC Asterisk 617878 TUBULIN, ALPHA-3D; TUBA3D H2-ALPHA Number Sign 617879 LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD Asterisk 617880 POC5 CENTRIOLAR PROTEIN; POC5 PROTEOME OF CENTRIOLE 5, CHLAMYDOMONAS, HOMOLOG OF;; CHROMOSOME 5 OPEN READING FRAME 37; C5ORF37 Asterisk 617881 CHROMOSOME 4 OPEN READING FRAME 54; C4ORF54 LOC285556;; FOPV GENE Number Sign 617882 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG Number Sign 617883 FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS Asterisk 617884 HEPATOMA-DERIVED GROWTH FACTOR-LIKE PROTEIN 2; HDGFL2 HDGF-LIKE PROTEIN 2;; HDGF-RELATED PROTEIN 2; HRP2; HDGFRP2 Number Sign 617885 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19; BMIQ19 OBESITY, SUSCEPTIBILITY TO Asterisk 617886 ZINC FINGER PROTEIN 512B; ZNF512B GAM;; KIAA1196 Asterisk 617887 AGMATINASE; AGMAT AGMATINE UREOHYDROLASE; AUH Asterisk 617888 ZINC FINGER PROTEIN 580; ZNF580 Asterisk 617889 PYRIDINE NUCLEOTIDE-DISULPHIDE OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 2; PYROXD2 CHROMOSOME 10 OPEN READING FRAME 33; C10ORF33;; YUEF Asterisk 617890 ZINC FINGER PROTEIN 664; ZNF664 ZINC FINGER, ORGAN OF CORTI, 1; ZFOC1 Asterisk 617891 ZINC FINGER PROTEIN 655; ZNF655 VAV1-INTERACTING KRUPPEL-LIKE PROTEIN; VIK Number Sign 617892 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24 Asterisk 617893 RIBOSOMAL PROTEIN L36; RPL36 Asterisk 617894 TRANSMEMBRANE PROTEIN 50B; TMEM50B CHROMOSOME 21 OPEN READING FRAME 4; C21ORF4 Number Sign 617895 SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19 Asterisk 617896 ZIC FAMILY, MEMBER 5; ZIC5 ZINC FINGER PROTEIN OF CEREBELLUM 5;; ODD PAIRED-RELATED PROTEIN; OPR;; OPA-RELATED PROTEIN Asterisk 617897 CITRATE SYNTHASE LYSINE METHYLTRANSFERASE; CSKMT METHYLTRANSFERASE-LIKE 12; METTL12 Number Sign 617898 MULTIPLE SYNOSTOSES SYNDROME 4; SYNS4 Number Sign 617899 LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14 Number Sign 617900 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 6 Asterisk 617901 DEXAMETHASONE-INDUCED GENE; DEXI MYLE Asterisk 617902 GALECTIN-LIKE PROTEIN; LGALSL GALECTIN-RELATED PROTEIN; GRP;; HSPC159 Number Sign 617903 NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS Number Sign 617904 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59 Asterisk 617905 HYPOXIA-INDUCIBLE LIPID DROPLET-ASSOCIATED PROTEIN; HILPDA HYPOXIA-INDUCIBLE PROTEIN 2; HIG2 Asterisk 617906 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 20; CFAP20 BASAL BODY UPREGULATED GENE 22; BUG22;; CHROMOSOME 16 OPEN READING FRAME 80; C16ORF80;; FUNCTIONAL SPLICEOSOME-ASSOCIATED PROTEIN 23; FSAP23 Number Sign 617907 ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5 Asterisk 617908 ZINC FINGER PROTEIN 473; ZNF473 ZINC FINGER PROTEIN, 100-KD; ZFP100;; KIAA1141 Asterisk 617909 LSM10, U7 SMALL NUCLEAR RNA-ASSOCIATED PROTEIN; LSM10 Asterisk 617910 LSM11, U7 SMALL NUCLEAR RNA-ASSOCIATED PROTEIN; LSM11 Number Sign 617911 DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL Number Sign 617912 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5 Number Sign 617913 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR Number Sign 617914 MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20 Number Sign 617915 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS Number Sign 617916 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7; NBIA7 Number Sign 617917 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8 Asterisk 617918 STRIATIN-INTERACTING PROTEIN 1; STRIP1 FAR11, S. CEREVISIAE, HOMOLOG OF, A; FAR11A;; FAMILY WITH SEQUENCE SIMILARITY 40, MEMBER A; FAM40A Asterisk 617919 STRIATIN-INTERACTING PROTEIN 2; STRIP2 FAR11, S. CEREVISIAE, HOMOLOG OF, B; FAR11B;; FAMILY WITH SEQUENCE SIMILARITY 40, MEMBER B; FAM40B Number Sign 617920 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3; PLCA3 AMYLOIDOSIS CUTIS DYSCHROMICA; ACD Number Sign 617921 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25; ALS25 Asterisk 617922 GLYCOPHORIN A; GYPA GPA;; GLYCOPHORIN, ALPHA Asterisk 617923 GLYCOPHORIN B; GYPB GPB;; GLYCOPHORIN, DELTA Number Sign 617924 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10 Number Sign 617925 SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20 Number Sign 617926 OROFACIODIGITAL SYNDROME XVII; OFD17 OFDS XVII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVII Number Sign 617927 OROFACIODIGITAL SYNDROME XVIII; OFD18 OFDS XVIII;; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVIII Number Sign 617928 KERATOCONUS 9; KTCN9 Number Sign 617929 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60 Number Sign 617930 CHROMOSOME 1p35 DELETION SYNDROME Number Sign 617931 SPINOCEREBELLAR ATAXIA 47; SCA47 Asterisk 617932 RHOPHILIN 2; RHPN2 RHO GTPase-BINDING PROTEIN 2 Number Sign 617933 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61; EIEE61 Asterisk 617934 AE-BINDING PROTEIN 2; AEBP2 ADIPOCYTE ENHANCER-BINDING PROTEIN 2;; ZINC FINGER PROTEIN AEBP2 Number Sign 617935 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4 Number Sign 617936 BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED ACHOLINESTERASEMIA;; PSEUDOCHOLINESTERASE DEFICIENCY SUXAMETHONIUM SENSITIVITY, INCLUDED;; APNEA, POSTANESTHETIC, INCLUDED;; BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE, INCLUDED;; HYPOCHOLINESTERASEMIA, FLUORIDE-RESISTANT, JAPANESE TYPE, INCLUDED Asterisk 617937 RNA-BINDING MOTIF PROTEIN 11; RBM11 Number Sign 617938 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 Asterisk 617939 ZINC FINGER PROTEIN 69; ZFP69 ZINC FINGER PROTEIN 642; ZNF642 Asterisk 617940 PLECKSTRIN HOMOLOGY DOMAIN- AND RhoGEF DOMAIN-CONTAINING PROTEIN G3; PLEKHG3 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 3;; RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 43; ARHGEF43;; KIAA0599 Number Sign 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 Asterisk 617942 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 17A; ABHD17A ALPHA/BETA HYDROLASE DOMAIN-CONTAINING PROTEIN 17A;; CHROMOSOME 19 OPEN READING FRAME 27;; FAMILY WITH SEQUENCE SIMILARITY 108, MEMBER A1; FAM108A1 Asterisk 617943 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 17B; ABHD17B ALPHA/BETA HYDROLASE DOMAIN-CONTAINING PROTEIN 17B;; CHROMOSOME 9 OPEN READING FRAME 77;; FAMILY WITH SEQUENCE SIMILARITY 108, MEMBER B1; FAM108B1 Asterisk 617944 ABHYDROLASE DOMAIN-CONTAINING PROTEIN 17C; ABHD17C ALPHA/BETA HYDROLASE DOMAIN-CONTAINING PROTEIN 17C;; FAMILY WITH SEQUENCE SIMILARITY 108, MEMBER C1; FAM108C1 Asterisk 617945 KIAA1107 GENE; KIAA1107 AP2-INTERACTING CLATHRIN-ENDOCYTOSIS PROTEIN; APACHE Asterisk 617946 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN 1; ERGIC1 ENDOPLASMIC RETICULUM-GOLGI INTERMEDIATE COMPARTMENT PROTEIN, 32-KD; ERGIC32;; KIAA1181 Asterisk 617947 WD REPEAT-CONTAINING PROTEIN 74; WDR74 Number Sign 617948 ELLIPTOCYTOSIS 3; EL3 ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL, INCLUDED Asterisk 617949 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 69; CFAP69 CHROMOSOME 7 OPEN READING FRAME 63; C7ORF63 Number Sign 617950 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36 Number Sign 617951 LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15 Number Sign 617952 OSTEOGENESIS IMPERFECTA, TYPE XVIII; OI18 NULL 617953 HYPERTHYROXINEMIA, EUTHYROID, CAUSED BY GENERALIZED 5-PRIME-DEIODINASE DEFICIENCY HYPERTHYROXINEMIA, EUTHYROID, DUE TO DECREASED PERIPHERAL CONVERSION OF T4 Number Sign 617954 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6 Percent 617955 PHENYTOIN TOXICITY ARENE OXIDE DETOXIFICATION DEFECT;; DIPHENYLHYDANTOIN, DEFECT IN HYDROXYLATION OF FETAL HYDANTOIN SYNDROME, INCLUDED; FHS, INCLUDED Number Sign 617956 BETA-GLUCOPYRANOSIDE TASTING Asterisk 617957 LEUCINE RICH REPEATS- AND IQ MOTIF-CONTAINING PROTEIN 3; LRRIQ3 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 44; LRRC44 Asterisk 617958 INTERACTOR OF LITTLE ELONGATION COMPLEX ELL SUBUNIT 1; ICE1 KIAA0947 Number Sign 617959 SPERMATOGENIC FAILURE 24; SPGF24 Number Sign 617960 SPERMATOGENIC FAILURE 25; SPGF25 Number Sign 617961 SPERMATOGENIC FAILURE 26; SPGF26 Asterisk 617962 ZINC FINGER PROTEIN 827; ZNF827 Asterisk 617963 TUDOR DOMAIN-CONTAINING PROTEIN 9; TDRD9 CHROMOSOME 14 OPEN READING FRAME 75; C14ORF75;; HOMELESS, DROSOPHILA, HOMOLOG OF; HLS;; SPINDLE E, DROSOPHILA, HOMOLOG OF; SPNE Number Sign 617964 LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16 Number Sign 617965 SPERMATOGENIC FAILURE 27; SPGF27 Number Sign 617966 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; LDLCQ7 EZETIMIBE, RESPONSE TO, INCLUDED Number Sign 617967 HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3, FORMERLY Asterisk 617968 WD REPEAT-CONTAINING PROTEIN 63; WDR63 Asterisk 617969 COILED-COIL DOMAIN-CONTAINING PROTEIN 63; CCDC63 OUTER ROW DYNEIN ASSEMBLY 5, CHLAMYDOMONAS, HOMOLOG OF; ODA5 Number Sign 617970 RH-NULL, AMORPH TYPE; RHNA Number Sign 617971 METHEMOGLOBINEMIA, BETA TYPE Asterisk 617972 ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 20; ZDHHC20 DHHC20 Number Sign 617973 METHEMOGLOBINEMIA, ALPHA TYPE Number Sign 617974 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE; SEMDDR Asterisk 617975 FAMILY WITH SEQUENCE SIMILARITY 210, MEMBER A; FAM210A CHROMOSOME 18 OPEN READING FRAME 19; C18ORF19 Number Sign 617976 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63 Number Sign 617977 NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES; NEDSBAS ELHATTAB-ALKURAYA SYNDROME Asterisk 617978 FAMILY WITH SEQUENCE SIMILARITY 49, MEMBER B; FAM49B Asterisk 617979 LONG NONCODING RNA NEAR ACOD1 lncRNA-ACOD1;; LOC105370268 Number Sign 617980 ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 ERYTHROCYTOSIS, BETA-GLOBIN TYPE;; POLYCYTHEMIA, BETA-GLOBIN TYPE Number Sign 617981 ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 ERYTHROCYTOSIS, ALPHA-GLOBIN TYPE;; POLYCYTHEMIA, ALPHA-GLOBIN TYPE Number Sign 617982 VERVERI-BRADY SYNDROME; VERBRAS Number Sign 617983 MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE; MCPH21 Number Sign 617984 MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22 Number Sign 617985 MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE; MCPH23 Asterisk 617986 LOW DENSITY LIPOPROTEIN RECEPTOR CLASS A DOMAIN-CONTAINING PROTEIN 3; LDLRAD3 LDLR CLASS A DOMAIN-CONTAINING PROTEIN 3; LRAD3 Asterisk 617987 EEF1A LYSINE AND N-TERMINAL METHYLTRANSFERASE; EEF1AKNMT METHYLTRANSFERASE-LIKE 13; METTL13;; FEAT;; KIAA0859 Number Sign 617988 JABERI-ELAHI SYNDROME; JABELS Asterisk 617989 N-ALPHA-ACETYLTRANSFERASE 30, NatC CATALYTIC SUBUNIT; NAA30 N-ACETYLTRANSFERASE 12, GCN5-RELATED; NAT12;; MAK3, S. CEREVISIAE, HOMOLOG OF; MAK3;; CHROMOSOME 14 OPEN READING FRAME 35; C14ORF35 Asterisk 617990 N-ALPHA-ACETYLTRANSFERASE 38, NatC AUXILIARY SUBUNIT; NAA38 LSM DOMAIN-CONTAINING PROTEIN 1; LSMD1;; MAK31, S. CEREVISIAE, HOMOLOG OF; MAK31 Number Sign 617991 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD Number Sign 617992 DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE Number Sign 617993 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC2 Number Sign 617994 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 Number Sign 617995 IMPDH2 ENZYME ACTIVITY, VARIATION IN; IMPDH2V Number Sign 617996 OOCYTE MATURATION DEFECT 5; OOMD5 Asterisk 617997 RCC1 DOMAIN-CONTAINING PROTEIN 1; RCCD1 Asterisk 617998 GRB2-ASSOCIATED REGULATOR OF MAPK1, SUBTYPE 1; GAREM1 GRB2-ASSOCIATED REGULATOR OF ERK/MAPK; GAREM Asterisk 617999 GRB2-ASSOCIATED REGULATOR OF MAPK1, SUBTYPE 2; GAREM2 GRB2-ASSOCIATED REGULATOR OF ERK/MAPK 2 Number Sign 618000 EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2 Asterisk 618001 RAB11 EFFECTOR CONTAINING LIS1 HOMOLOGY DOMAIN, COILED-COIL DOMAINS, AND HEAT REPEATS; RELCH KIAA1468 Asterisk 618002 MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 4; MAST4 Number Sign 618003 DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57 Number Sign 618004 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64 Number Sign 618005 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; CDGF1 CDGF Number Sign 618006 LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17 Caret 618007 MOVED TO 613658 Number Sign 618008 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 Number Sign 618010 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17 Number Sign 618011 HYPEREKPLEXIA 4; HKPX4 Number Sign 618012 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3 Number Sign 618013 DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109 Number Sign 618014 PREMATURE OVARIAN FAILURE 14; POF14 Number Sign 618015 PROTOPORPHYRIA, ERYTHROPOIETIC, 2; EPP2 Asterisk 618016 RNA-BINDING REGION-CONTAINING PROTEIN 3; RNPC3 U11/U12 SMALL NUCLEAR RIBONUCLEOPROTEIN, 65-KD PROTEIN;; U11/U12 snRNP, 65-KD PROTEIN; SNRNP65;; KIAA1839 Asterisk 618017 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 16; ANKRD16 Number Sign 618018 DRUG METABOLISM, ALTERED, CYP2C8-RELATED Number Sign 618019 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Asterisk 618020 KELCH-LIKE 22; KLHL22 Number Sign 618021 TETRAAMELIA SYNDROME 2; TETAMS2 TETRAAMELIA SYNDROME 2 WITH PULMONARY AGENESIS Number Sign 618022 HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD HFHRTRD Asterisk 618023 NOTCH2 N-TERMINAL-LIKE PROTEIN A; NOTCH2NLA NOTCH2NL;; N2N Asterisk 618024 NOTCH2 N-TERMINAL-LIKE PROTEIN B; NOTCH2NLB Asterisk 618025 NOTCH2 N-TERMINAL-LIKE PROTEIN C; NOTCH2NLC NULL 618026 NOTCH2 N-TERMINAL-LIKE-RELATED, PSEUDOGENE; NOTCH2NLR Number Sign 618027 COFFIN-SIRIS SYNDROME 7; CSS7 Asterisk 618028 SHIELD COMPLEX, SUBUNIT 1; SHLD1 RINN1/REV7-INTERACTING NOVEL NONHOMOLOGOUS END-JOINING REGULATOR 3; RINN3;; CHROMOSOME 20 OPEN READING FRAME 196; C20ORF196 Asterisk 618029 SHIELD COMPLEX, SUBUNIT 2; SHLD2 RINN1/REV7-INTERACTING NOVEL NONHOMOLOGOUS END-JOINING REGULATOR 2; RINN2;; FAMILY WITH SEQUENCE SIMILARITY 35, MEMBER A; FAM35A Asterisk 618030 SHIELD COMPLEX, SUBUNIT 3; SHLD3 REV7-INTERACTING NOVEL NONHOMOLOGOUS END-JOINING REGULATOR 1; RINN1 Number Sign 618031 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4 Asterisk 618032 ZINC FINGER PROTEIN 768; ZNF768 Asterisk 618033 ZINC FINGER PROTEIN 689; ZNF689 TRANSCRIPTION-INVOLVED PROTEIN UPREGULATED IN HEPATOCELLULAR CARCINOMA 1; TIPUH1 Asterisk 618034 SOLUTE CARRIER FAMILY 43, MEMBER 3; SLC43A3 EMBRYONIC EPITHELIA GENE 1; EEG1;; EQUILIBRATIVE NUCLEOBASE TRANSPORTER 1; ENBT1 Asterisk 618035 TBC1 DOMAIN FAMILY, MEMBER 9; TBC1D9 TBC1D9A;; KIAA0882 Number Sign 618036 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD; CMT2DD CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD Asterisk 618037 ZINC FINGER PROTEIN 536; ZNF536 KIAA0390 Asterisk 618038 CHROMOSOME 9 OPEN READING FRAME 84; C9ORF84 SHORTAGE IN CHIASMATA 1, ARABIDOPSIS, HOMOLOG OF; SHOC1;; ZIP2, S. CEREVISIAE, HOMOLOG OF Asterisk 618039 TBC1 DOMAIN FAMILY, MEMBER 9B; TBC1D9B KIAA0676 Asterisk 618040 DIGEORGE SYNDROME CRITICAL REGION GENE 5; DGCR5 LONG INTERGENIC NONCODING RNA 37; LINC00037 Asterisk 618041 PURINE-RICH ELEMENT-BINDING PROTEIN G; PURG PURGA, INCLUDED;; PURGB, INCLUDED Percent 618042 PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA; PAPHG Asterisk 618043 POU DOMAIN, CLASS 6, TRANSCRIPTION FACTOR 1; POU6F1 POU CLASS 6 HOMEOBOX 1;; TCF-BETA-1; TCFB1;; BRN5;; MPOU Asterisk 618044 C2 CALCIUM-DEPENDENT DOMAIN-CONTAINING PROTEIN 5; C2CD5 C2 DOMAIN-CONTAINING PHOSPHOPROTEIN, 138-KD; CDP138;; KIAA0528 Asterisk 618045 DNA DAMAGE-INDUCED APOPTOSIS SUPPRESSOR; DDIAS NITRIC OXIDE-INDUCIBLE GENE; NOXIN;; CHROMOSOME 11 OPEN READING FRAME 82; C11ORF82 Asterisk 618046 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY A, MEMBER 1; OR1A1 OR17-7 Asterisk 618047 OLFACTORY RECEPTOR, FAMILY 1, SUBFAMILY A, MEMBER 2; OR1A2 OR17-6 Number Sign 618048 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2 Number Sign 618049 PARKINSONISM-DYSTONIA, INFANTILE, 2; PKDYS2 Number Sign 618050 MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57 Asterisk 618051 INNATE IMMUNITY ACTIVATOR; INAVA CHROMOSOME 1 OPEN READING FRAME 106; C1ORF106 Number Sign 618052 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27 Asterisk 618053 ANDROGEN RECEPTOR-REGULATED LONG NONCODING RNA 1; ARLNC1 AR-REGULATED lncRNA 1;; LONG INTERGENIC NONCODING RNA 2170; LINC02170 Asterisk 618054 MEMBRANE INTEGRAL NOTCH2-ASSOCIATED RECEPTOR 1; MINAR1 KIAA1024;; MAJOR INTRINSICALLY DISORDERED NOTCH2-BINDING RECEPTOR 1 Asterisk 618055 CELLULAR REPRESSOR OF E1A-STIMULATED GENES 1; CREG1 CREG Number Sign 618056 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS Number Sign 618057 DRUG METABOLISM, ALTERED, CES1-RELATED CARBOXYLESTERASE 1 DEFICIENCY, INCLUDED;; MONOCYTE ESTERASE DEFICIENCY, INCLUDED Asterisk 618058 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 300; CFAP300 CHROMOSOME 11 OPEN READING FRAME 70; C11ORF70 Asterisk 618059 WD REPEAT-CONTAINING PROTEIN 25; WDR25 Number Sign 618060 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA Number Sign 618061 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6 Asterisk 618062 CYSTEINE-RICH SECRETORY PROTEIN 3; CRISP3 SPECIFIC GRANULE PROTEIN, 28-KD; SGP28 Number Sign 618063 CILIARY DYSKINESIA, PRIMARY, 38; CILD38 CILIARY DYSKINESIA, PRIMARY, 38, WITH OR WITHOUT SITUS INVERSUS Asterisk 618064 CYTOCHROME c OXIDASE ASSEMBLY FACTOR 16; COX16 COX16, S. CEREVISIAE, HOMOLOG OF Number Sign 618065 PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D Asterisk 618066 HOMEOBOX B CLUSTER ANTISENSE RNA 1, NONCODING; HOXBAS1 HOXB CLUSTER ANTISENSE RNA 1;; LONG NONCODING RNA HOXBAS1;; lncRNA HOXBAS1;; HOXB3 OPPOSITE STRAND, MOUSE, HOMOLOG OF; HOXB3OS Number Sign 618067 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66 Asterisk 618068 SPERMATOGENIC LEUCINE ZIPPER PROTEIN 1; SPZ1 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 148; PPP1R148 Asterisk 618069 CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 6-LIKE; CNOT6L CNOT6-LIKE;; CCR4, S. CEREVISIAE, HOMOLOG OF, B; CCR4B Asterisk 618070 ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 2; ATP6V1C2 Asterisk 618071 ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 3; ATP6V1G3 Asterisk 618072 ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 2; ATP6V0D2 Asterisk 618073 STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 12; SAMD12 SAM DOMAIN-CONTAINING PROTEIN 12 Number Sign 618074 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 6; BAFME6;; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 6; FCMTE6 Number Sign 618075 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7 BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7; BAFME7;; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 7; FCMTE7 Number Sign 618076 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG Number Sign 618077 INFLAMMATORY BOWEL DISEASE 29; IBD29 Number Sign 618078 OVARIAN DYSGENESIS 6; ODG6 Number Sign 618079 LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8; LDLCQ8 Asterisk 618080 WD REPEAT-AND FYVE DOMAIN-CONTAINING PROTEIN 1; WDFY1 FYVE DOMAIN-CONTAINING PROTEIN LOCALIZED TO ENDOSOMES 1; FENS1 Asterisk 618081 IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 2; ILDR2 Asterisk 618082 WD REPEAT-CONTAINING PROTEIN 33; WDR33 WD REPEAT-CONTAINING PROTEIN, 146-KD; WDC146 Asterisk 618083 WW-BINDING PROTEIN 11; WBP11 NPW38-BINDING PROTEIN; NPWBP;; SPLICING FACTOR THAT INTERACTS WITH PQBP1 AND PP1; SIPP1 Number Sign 618084 PEELING SKIN SYNDROME 6; PSS6 Asterisk 618085 POLYAMINE-MODULATED FACTOR 1-BINDING PROTEIN 1; PMFBP1 PMF1-BINDING PROTEIN 1;; SPERM TAIL-ASSOCIATED PROTEIN; STAP Number Sign 618086 SPERMATOGENIC FAILURE 28; SPGF28 Number Sign 618087 SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS; SCA42ND Number Sign 618088 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS Number Sign 618089 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES; IDDFBA Number Sign 618090 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM; NEDEHCC Number Sign 618091 SPERMATOGENIC FAILURE 29; SPGF29 Number Sign 618092 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES; IDDSFTA Number Sign 618093 SPINOCEREBELLAR ATAXIA 48; SCA48 Number Sign 618094 DEAFNESS, AUTOSOMAL RECESSIVE 110; DFNB110 Number Sign 618095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63; MRT63 Number Sign 618096 PREMATURE OVARIAN FAILURE 15; POF15 Number Sign 618097 MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2 Number Sign 618098 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 Asterisk 618099 MITOCHONDRIAL RIBOSOMAL RNA METHYLTRANSFERASE 1; MRM1 Asterisk 618100 MPV17-LIKE PROTEIN; MPV17L Asterisk 618101 MATRIX METALLOPROTEINASE 27; MMP27 Asterisk 618102 SUMO-INTERACTING MOTIFS-CONTAINING PROTEIN 1; SIMC1 PLATFORM ELEMENT FOR INHIBITION OF AUTOLYTIC DEGRADATION; PLEIAD Number Sign 618103 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64; MRT64 Asterisk 618104 MEMBRANE METALLOENDOPEPTIDASE-LIKE 1; MMEL1 NEPRILYSIN II; NEPII;; NEPRILYSIN 2; NEP2;; NEPRILYSIN-LIKE 1; NL1;; SOLUBLE SECRETED ENDOPEPTIDASE; SEP Asterisk 618105 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 15; SIGLEC15 Number Sign 618106 MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58 Number Sign 618107 OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 Number Sign 618108 IMMUNODEFICIENCY 57; IMD57 Number Sign 618109 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65 Number Sign 618110 SPERMATOGENIC FAILURE 30; SPGF30 Asterisk 618111 ZINC FINGER PROTEIN 64; ZFP64 ZINC FINGER PROTEIN 338; ZNF338 Number Sign 618112 SPERMATOGENIC FAILURE 31; SPGF31 Number Sign 618113 ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION; MMERV ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE SPLENIAL LESION; MERS Number Sign 618114 LIDDLE SYNDROME 2; LIDLS2 Number Sign 618115 SPERMATOGENIC FAILURE 32; SPGF32 Number Sign 618116 BONE MARROW FAILURE SYNDROME 4; BMFS4 Number Sign 618117 OVARIAN DYSGENESIS 7; ODG7 Asterisk 618118 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 3; EML3 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN 3; EMAP3;; ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN, 95-KD; EMAP95 Asterisk 618119 ECHINODERM MICROTUBULE-ASSOCIATED PROTEIN-LIKE 5; EML5 Number Sign 618120 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE Asterisk 618121 ATP SYNTHASE, PERIPHERAL STALK, SUBUNIT D; ATP5PD ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT D; ATP5H Asterisk 618122 MTR4 EXOSOME RNA HELICASE; MTREX MTR4, S. CEREVISIAE, HOMOLOG OF; MTR4;; SUPERKILLER VIRALICIDIC ACTIVITY 2-LIKE 2; SKIV2L2;; SKI2, S. CEREVISIAE, HOMOLOG OF, 2;; KIAA0052 Number Sign 618123 POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8 Number Sign 618124 PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; PNRIID Asterisk 618125 COILED-COIL DOMAIN-CONTAINING PROTEIN 155; CCDC155 KASH DOMAIN-CONTAINING PROTEIN 5; KASH5 Number Sign 618126 LIDDLE SYNDROME 3; LIDLS3 Asterisk 618127 CYTOCHROME C OXIDASE, SUBUNIT 6B2; COX6B2 CYTOCHROME C OXIDASE, SUBUNIT VIb, POLYPEPTIDE 2;; CYTOCHROME C OXIDASE, SUBUNIT VIb, TESTIS-SPECIFIC;; CANCER/TESTIS ANTIGEN 59; CT59 Asterisk 618128 GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 2; GDAP2 Number Sign 618129 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I; LGMD1I Asterisk 618130 N-TERMINAL EF-HAND CALCIUM-BINDING PROTEIN 2; NECAB2 NEURAL CALCIUM-BINDING PROTEIN 2 Number Sign 618131 IMMUNODEFICIENCY 58; IMD58 Asterisk 618132 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 14; SIGLEC14 Asterisk 618133 NEUREXOPHILIN AND PC-ESTERASE DOMAIN FAMILY, MEMBER 4; NXPE4 CHROMOSOME 11 OPEN READING FRAME 33; C11ORF33;; FLJ20127 Asterisk 618134 UROTENSIN 2B; UTS2B UROTENSIN II-RELATED PEPTIDE; URP Number Sign 618135 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8; MDDGC8 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 24; LGMDR24;; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED Asterisk 618136 MAD2L1-BINDING PROTEIN; MAD2L1BP p31(COMET);; CAUGHT BY MAD2; CMT2 Asterisk 618137 MIS18 KINETOCHORE PROTEIN A: MIS18A MIS18, S. POMBE, HOMOLOG OF, A;; MIS18-ALPHA Number Sign 618138 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 Asterisk 618139 MIS18-BINDING PROTEIN 1; MIS18BP1 CHROMOSOME 14 OPEN READING FRAME 106; C14ORF106 Number Sign 618140 DEAFNESS, AUTOSOMAL DOMINANT 74; DFNA74 Number Sign 618141 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67; EIEE67 Number Sign 618142 MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME; MFRG Number Sign 618143 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 Number Sign 618144 USHER SYNDROME, TYPE IV; USH4 Number Sign 618145 DEAFNESS, AUTOSOMAL RECESSIVE 111; DFNB111 Asterisk 618146 WD REPEAT-CONTAINING PROTEIN 66; WDR66 CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 251; CFAP251 Number Sign 618147 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES; IDDHDF CHROMOSOME 14q32 DELETION SYNDROME, INCLUDED Number Sign 618148 EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO METHANETHIOL OXIDASE DEFICIENCY;; MTO DEFICIENCY;; EXTRAORAL HALITOSIS WITH DIMETHYLSULFOXIDURIA Number Sign 618149 OROFACIAL CLEFT 8; OFC8 CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8 Number Sign 618150 SAUL-WILSON SYNDROME; SWILS MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA Asterisk 618151 TESTIS-EXPRESSED BASIC PROTEIN 1; TSBP1 TESTIS SPERM-BINDING PROTEIN; TSBP;; CHROMOSOME 6 OPEN READING FRAME 10; C6ORF10 Number Sign 618152 SPERMATOGENIC FAILURE 33; SPGF33 Number Sign 618153 SPERMATOGENIC FAILURE 34; SPGF34 Number Sign 618154 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3 Number Sign 618155 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES; EORVA Number Sign 618156 SQUALENE SYNTHASE DEFICIENCY; SQSD NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS Number Sign 618157 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB, FORMERLY; IGHD1B, FORMERLY;; DWARFISM OF SINDH Number Sign 618158 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD Asterisk 618159 PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 21; PPP1R21 COILED-COIL DOMAIN-CONTAINING PROTEIN 128; CCDC128;; KLRAQ MOTIF-CONTAINING PROTEIN 1; KLRAQ1 Number Sign 618160 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V; IGHD5 Number Sign 618161 JOUBERT SYNDROME 35; JBTS35 Number Sign 618162 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE; SEMDK IMMUNOOSSEOUS DYSPLASIA, KRAKOW TYPE Asterisk 618163 TRANSMEMBRANE PROTEIN 94; TMEM94 KIAA0195 Number Sign 618164 CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD Number Sign 618165 BONE MARROW FAILURE SYNDROME 5; BMFS5 Asterisk 618166 CYCLIN N-TERMINAL DOMAIN-CONTAINING PROTEIN 1; CNTD1 CROSSOVER SITE-ASSOCIATED PROTEIN 1; COSA1 Number Sign 618167 OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD Number Sign 618168 DIARRHEA 9; DIAR9 Asterisk 618169 POU3F3-ADJACENT NONCODING TRANSCRIPT 1; PANTR1 LONG INTERGENIC NONCODING RNA POU3F3;; lincRNA-POU3F3;; lincRNA 1158; LINC01158 Number Sign 618170 NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS Asterisk 618171 KINESIN FAMILY MEMBER 16B; KIF16B Asterisk 618172 LONG NONCODING RNA UPREGULATOR OF ANTIVIRAL RESPONSE INTERFERON SIGNALING; LUARIS LONG NONCODING RNA 32;; lncRNA32 Number Sign 618173 RETINITIS PIGMENTOSA 83; RP83 Number Sign 618174 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9 Number Sign 618175 WARBURG-CINOTTI SYNDROME; WRCN Number Sign 618176 NEPHROTIC SYNDROME, TYPE 17; NPHS17 Number Sign 618177 NEPHROTIC SYNDROME, TYPE 18; NPHS18 Number Sign 618178 NEPHROTIC SYNDROME, TYPE 19; NPHS19 Number Sign 618179 MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24 Number Sign 618180 ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14 Asterisk 618181 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 11; ZBTB11 CKII-ALPHA INTERACTOR 1, DROSOPHILA, HOMOLOG OF;; CKII-ALPHA-I1, DROSOPHILA, HOMOLOG OF Number Sign 618182 ORTHOSTATIC HYPOTENSION 2; ORTHYP2 Number Sign 618183 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE; DIAR10 Number Sign 618184 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2; CHN2 Number Sign 618185 PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8 Number Sign 618186 NEUROPATHY, CONGENITAL HYPOMYELINATING, 3; CHN3 Number Sign 618187 OVARIAN DYSGENESIS 8; ODG8 Number Sign 618188 HYPERPARATHYROIDISM, TRANSIENT NEONATAL; HRPTTN Number Sign 618189 CARDIOMYOPATHY, DILATED, 2C; CMD2C Asterisk 618190 LUNG CANCER-ASSOCIATED TRANSCRIPT 1, NONCODING; LUCAT1 SMOKE- AND CANCER-ASSOCIATED LONG NONCODING RNA 1; SCAL1;; SMOKE- AND CANCER-ASSOCIATED lncRNA 1 Asterisk 618191 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 21; CEACAM21 Asterisk 618192 PROSTATE CANCER-ASSOCIATED TRANSCRIPT 19, NONCODING; PCAT19 LONG INTERGENIC NONCODING RNA 1190; LINC01190;; lincRNA 1190 Number Sign 618193 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 Asterisk 618194 SCAVENGER RECEPTOR CYSTEINE-RICH FAMILY MEMBER WITH 5 DOMAINS; SSC5D SSCR FAMILY MEMBER WITH 5 DOMAINS;; SOLUBLE SCAVENGER WITH 5 DOMAINS Number Sign 618195 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA; IDDRP Number Sign 618196 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2 Number Sign 618197 MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23 Number Sign 618198 MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC; CMS24 Asterisk 618199 APOBEC1 COMPLEMENTATION FACTOR; A1CF ACF;; APOBEC1-STIMULATING PROTEIN; ASP Asterisk 618200 MIDASIN AAA ATPase 1; MDN1 MIDASIN 1;; MIDAS-CONTAINING PROTEIN 1 Number Sign 618201 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68; EIEE68 Asterisk 618202 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 30; DNAJC30 WILLIAMS-BEUREN SYNDROME CHROMOSOME REGION 18; WBSCR18 Asterisk 618203 TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT DOMAINS-CONTAINING PROTEIN 4; TMTC4 Number Sign 618204 IMMUNODEFICIENCY 15A; IMD15A Number Sign 618205 SNIJDERS BLOK-CAMPEAU SYNDROME; SNIBCPS INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES; IDDMSF Asterisk 618206 ZINC FINGER CCCH DOMAIN-CONTAINING PROTEIN 7B; ZC3H7B ROTAVIRUS X PROTEIN ASSOCIATED WITH NSP3 1; ROXAN1;; ROXAN;; KIAA1031 Asterisk 618207 SEC1 FAMILY DOMAIN-CONTAINING PROTEIN 1; SCFD1 SLY1, S. CEREVISIAE, HOMOLOG OF; SLY1;; RA410 Asterisk 618208 LONG INTERGENIC NONCODING RNA 1159; LINC01159 lincRNA 1159;; LINC-BRN1B Asterisk 618209 HOXD ANTISENSE GROWTH-ASSOCIATED LONG NONCODING RNA; HAGLR LONG INTERGENIC NONCODING RNA HAGLR;; lincRNA HAGLR;; MDGT Asterisk 618210 LIPID RAFT LINKING PROTEIN 1; RFTN1 RAFTLIN;; KIAA0084 Asterisk 618211 PITRILYSIN METALLOPEPTIDASE 1; PITRM1 METALLOENDOPROTEASE 1; MP1;; PRESEQUENCE PROTEASE; PREP Asterisk 618212 LONG INTERGENIC NONCODING RNA, p53-INDUCED TRANSCRIPT; LINC-PINT lincRNA PINT;; p53-INDUCED TRANSCRIPT; PINT Number Sign 618213 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE Asterisk 618214 LONG INTERGENIC NONCODING RNA 1157; LINC01157 lincRNA 1157;; LINC-ENC1 Asterisk 618215 LIPID RAFT LINKING PROTEIN 2; RFTN2 Asterisk 618216 MIRLET7B HOST GENE, NONCODING; MIRLET7BHG LONG INTERGENIC NONCODING RNA MIRLET7BHG;; lincRNA MIRLET7BHG;; LONG INTERGENIC NONCODING RNA PPARA; LINC-PPARA Asterisk 618217 EGFR LONG NONCODING DOWNSTREAM RNA; ELDR LONG INTERGENIC NONCODING RNA ELDR;; lincRNA ELDR;; LONG INTERGENIC NONCODING RNA 1156; LINC01156;; FABL Number Sign 618218 BAKER-GORDON SYNDROME; BAGOS NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENT AND ABNORMAL ELECTROENCEPHALOGRAM; NEDIMAE Number Sign 618219 POLYDACTYLY, POSTAXIAL, TYPE A9; PAPA9 Number Sign 618220 RETINITIS PIGMENTOSA 84; RP84 Number Sign 618221 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66; MRT66 Number Sign 618222 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2 Number Sign 618223 VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD Number Sign 618224 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3 Number Sign 618225 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4 Number Sign 618226 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5; MC1DN5 Asterisk 618227 LEUCINE-RICH REPEAT-CONTAINING PROTEIN 56; LRRC56 Number Sign 618228 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6; MC1DN6 Number Sign 618229 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7; MC1DN7 Number Sign 618230 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8 Number Sign 618231 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2 Number Sign 618232 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9; MC1DN9 Number Sign 618233 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10; MC1DN10 Number Sign 618234 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11 Number Sign 618235 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13; MC1DN13 Number Sign 618236 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14; MC1DN14 Number Sign 618237 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15 Number Sign 618238 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16; MC1DN16 Number Sign 618239 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17; MC1DN17 Number Sign 618240 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18; MC1DN18 Number Sign 618241 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19; MC1DN19 Number Sign 618242 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21; MC1DN21 Number Sign 618243 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22 Number Sign 618244 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23; MC1DN23 Number Sign 618245 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24; MC1DN24 Number Sign 618246 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25; MC1DN25 Number Sign 618247 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26; MC1DN26 Number Sign 618248 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27; MC1DN27 Number Sign 618249 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28; MC1DN28 Number Sign 618250 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29; MC1DN29 Number Sign 618251 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 Number Sign 618252 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32; MC1DN32 Number Sign 618253 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33; MC1DN33 Number Sign 618254 CILIARY DYSKINESIA, PRIMARY, 39; CILD39 CILIARY DYSKINESIA, PRIMARY, 39, WITH OR WITHOUT SITUS INVERSUS Asterisk 618255 MYOGENESIS-REGULATING GLYCOSIDASE; MYORG NUCLEAR ENVELOPE TRANSMEMBRANE PROTEIN 37; NET37;; KIAA1161 NULL 618256 BIPARENTAL MITOCHONDRIAL DNA TRANSMISSION Number Sign 618257 DEAFNESS, AUTOSOMAL RECESSIVE 112; DFNB112 Asterisk 618258 SEC11, YEAST, HOMOLOG OF, A; SEC11A SIGNAL PEPTIDASE COMPLEX, 18-KD SUBUNIT; SPC18 Asterisk 618259 LONG INTERGENIC NONCODING RNA 1565; LINC01565 lincRNA 1565;; GR6 GR6/EVI1 FUSION GENE, INCLUDED Asterisk 618260 COILED-COIL DOMAIN-CONTAINING PROTEIN 47; CCDC47 CALUMIN Number Sign 618261 LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 CD70 DEFICIENCY Asterisk 618262 cAMP RESPONSE ELEMENT-BINDING PROTEIN 5; CREB5 cAMP RESPONSE ELEMENT-BINDING PROTEIN A; CREBPA Asterisk 618263 CALCIUM HOMEOSTASIS MODULATOR 3; CALHM3 Number Sign 618264 MIRROR MOVEMENTS 4; MRMV4 Number Sign 618265 ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ACCIID Number Sign 618266 PONTOCEREBELLAR HYPOPLASIA, TYPE 12; PCH12 Number Sign 618267 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3 Number Sign 618268 TRICHOHEPATONEURODEVELOPMENTAL SYNDROME; THNS Asterisk 618269 ZINC FINGER PROTEIN 341; ZNF341 Number Sign 618270 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3; CAKUT3 Asterisk 618271 SEC61 TRANSLOCON, ALPHA-2 SUBUNIT; SEC61A2 SEC61 COMPLEX, ALPHA-2 SUBUNIT Number Sign 618272 GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR; GLOW GLOW SYNDROME Number Sign 618273 MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM Asterisk 618274 PEPTIDYLPROLYL ISOMERASE DOMAIN- AND WD40 REPEAT-CONTAINING PROTEIN 1; PPWD1 Number Sign 618275 HYPOTRICHOSIS 14; HYPT14 Number Sign 618276 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY; CONDCA Asterisk 618277 NHL REPEAT-CONTAINING PROTEIN 2; NHLRC2 Number Sign 618278 FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA Number Sign 618279 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G; CMT1G Number Sign 618280 CARDIAC-UROGENITAL SYNDROME; CUGS Asterisk 618281 VON WILLEBRAND FACTOR A DOMAIN-CONTAINING PROTEIN 2; VWA2 AMACO;; COLON CANCER-SECRETED PROTEIN 2; CCSP2 Number Sign 618282 HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE; HIES3 Number Sign 618283 VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI; VIPB Number Sign 618284 MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS Number Sign 618285 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69; EIEE69 Number Sign 618286 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; MACID MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION Number Sign 618287 MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU Asterisk 618288 5-HYDROXYMETHYLCYTOSINE-BINDING PROTEIN, EMBRYONIC STEM CELL-SPECIFIC; HMCES Asterisk 618289 ENDOSOME-ASSOCIATED TRAFFICKING REGULATOR 1; ENTR1 SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 3; SDCCAG3 Asterisk 618290 WD REPEAT-CONTAINING PROTEIN 90; WDR90 KIAA1924 Number Sign 618291 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT; SMALED2B Number Sign 618292 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA; NEDIDHA Asterisk 618293 INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 10; IFITM10 DISPANIN, SUBFAMILY A, MEMBER 3; DSPA3 Asterisk 618294 TRANSMEMBRANE PROTEIN 91; TMEM91 DISPANIN, SUBFAMILY C, MEMBER 3; DSPC3 Number Sign 618295 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67; MRT67 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 67 Asterisk 618296 TRANSMEMBRANE PROTEIN 233; TMEM233 DISPANIN, SUBFAMILY B, MEMBER 2; DSPB2 Asterisk 618297 PROLINE-RICH TRANSMEMBRANE PROTEIN 1; PRRT1 DISPANIN, SUBFAMILY D, MEMBER 1; DSPD1 Number Sign 618298 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70; EIEE70 Asterisk 618299 LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 12; LRP12 LDLR-RELATED PROTEIN 12; LRP12;; ST7;; MIG13, C. ELEGANS, HOMOLOG OF, A; MIG13A Number Sign 618300 CILIARY DYSKINESIA, PRIMARY, 40; CILD40 CILIARY DYSKINESIA, PRIMARY, 40, WITH OR WITHOUT SITUS INVERSUS Asterisk 618301 KAZRIN, PERIPLAKIN-INTERACTING PROTEIN; KAZN Number Sign 618302 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68; MRT68 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 68 Asterisk 618303 CAVEOLAE-ASSOCIATED PROTEIN 3; CAVIN3 CAVIN 3;; SRBC Asterisk 618304 GLUTAMINE-RICH PROTEIN 2; QRICH2 Asterisk 618305 ATP1A1 ANTISENSE RNA 1, NONCODING; ATP1A1AS1 LONG NONCODING RNA ATP1A1AS1;; lncRNA ATP1A1AS1 Asterisk 618306 PROLINE-RICH PROTEIN 7; PRR7 Number Sign 618307 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4; EV4 Asterisk 618308 NOP9, S. CEREVISIAE, HOMOLOG OF; NOP9 NUCLEOLAR PROTEIN NOP9 Number Sign 618309 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5; EV5 Number Sign 618310 DIAMOND-BLACKFAN ANEMIA 18; DBA18 Asterisk 618311 RIBOSOME BIOGENESIS REGULATOR 1, S. CEREVISIAE, HOMOLOG OF; RRS1 Number Sign 618312 DIAMOND-BLACKFAN ANEMIA 19; DBA19 Number Sign 618313 DIAMOND-BLACKFAN ANEMIA 20; DBA20 Number Sign 618314 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2 Asterisk 618315 RIBOSOMAL PROTEIN L35; RPL35 Number Sign 618316 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF Number Sign 618317 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE; IBGC7 Asterisk 618318 COILED-COIL DOMAIN-CONTAINING PROTEIN 189; CCDC189 CHROMOSOME 16 OPEN READING FRAME 93; C16ORF93;; SPERGEN 4 Asterisk 618319 PR DOMAIN-CONTAINING PROTEIN 10; PRDM10 TRISTANIN; TRIS;; KIAA1231 Asterisk 618320 SECRETORY PHOSPHOLIPASE A2, GROUP IIE; PLA2G2E SPLA2 IIE Number Sign 618321 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2; PEBEL2 Asterisk 618322 UBIQUITIN-SPECIFIC PROTEASE 38; USP38 Number Sign 618323 MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC; CMS25 Number Sign 618324 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2 Number Sign 618325 LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9 Asterisk 618326 ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 3; ZCCHC3 Asterisk 618327 KIAA1211 GENE; KIAA1211 CANCER-RELATED REGULATOR OF ACTIN DYNAMICS; CRAD Number Sign 618328 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71 GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY Number Sign 618329 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 Number Sign 618330 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; GDDI Number Sign 618331 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS; PEERB Number Sign 618332 MENKE-HENNEKAM SYNDROME 1; MKHK1 Number Sign 618333 MENKE-HENNEKAM SYNDROME 2; MKHK2 Asterisk 618334 CYTOCHROME b(-254) CHAPERONE 1; CYBC1 ESSENTIAL FOR REACTIVE OXYGEN SPECIES; EROS;; CHROMOSOME 17 OPEN READING FRAME 62; C17ORF62 Asterisk 618335 LONG INTERGENIC NONCODING RNA 958; LINC00958 lincRNA 958;; BLADDER CANCER-ASSOCIATED TRANSCRIPT 2; BLACAT2 Number Sign 618336 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY; IMAGEI IMAGEI SYNDROME Asterisk 618337 FERM DOMAIN-CONTAINING PROTEIN 8; FRMD8 IRHOM TAIL-ASSOCIATED PROTEIN; ITAP Asterisk 618338 METHYLTRANSFERASE-LIKE PROTEIN 7A; METTL7A AAMB Number Sign 618339 INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; CASGID Asterisk 618340 SUBMAXILLARY GLAND ANDROGEN-REGULATED PROTEIN 3A; SMR3A PBI Number Sign 618341 SPERMATOGENIC FAILURE 35; SPGF35 Number Sign 618342 INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE; IDDABS Number Sign 618343 POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV Asterisk 618344 PROLINE-RICH PROTEIN 15; PRR15 Number Sign 618345 RETINITIS PIGMENTOSA 85; RP85 Number Sign 618346 MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB Number Sign 618347 GALLOWAY-MOWAT SYNDROME 6; GAMOS6 Number Sign 618348 GALLOWAY-MOWAT SYNDROME 7; GAMOS7 Number Sign 618349 GALLOWAY-MOWAT SYNDROME 8; GAMOS8 Asterisk 618350 MICROTUBULE-ASSOCIATED PROTEIN 11; MAP11 CHROMOSOME 7 OPEN READING FRAME 43; C7ORF43 Number Sign 618351 MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE; MCPH25 Percent 618352 CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA; CCCA Number Sign 618353 OOCYTE MATURATION DEFECT 6; OOMD6 Number Sign 618354 NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES; NEDLBA Asterisk 618355 ALG10, S. CEREVISIAE, HOMOLOG OF, A; ALG10A ALG10, S. CEREVISIAE, HOMOLOG OF; ALG10 Number Sign 618356 NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION; NEDCPMD Number Sign 618357 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15; EIG15 Number Sign 618358 CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2 Asterisk 618359 ZINC FINGER PROTEIN 197; ZNF197 ZINC FINGER PROTEIN 20; ZNF20 VHL-ASSOCIATED KRAB-A DOMAIN-CONTAINING PROTEIN, INCLUDED; VHLAK, INCLUDED Number Sign 618360 BRAIN SMALL VESSEL DISEASE 3; BSVD3 Asterisk 618361 DUAL-SPECIFICITY PHOSPHATASE 23; DUSP23 DUSP25;; LOW MOLECULAR MASS DUAL-SPECIFICITY PHOSPHATASE 3; LDP3;; VH1-LIKE PHOSPHATASE Z; VHZ Number Sign 618362 COFFIN-SIRIS SYNDROME 8; CSS8 Number Sign 618363 SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS; SSASKS Number Sign 618364 MYOCLONUS, FAMILIAL, 2; MYOCL2 Asterisk 618365 ZINC FINGER- AND SCAN DOMAIN-CONTAINING PROTEIN 10; ZSCAN10 ZINC FINGER PROTEIN 206; ZNF206; ZFP206 Asterisk 618366 VPS8, CORVET COMPLEX SUBUNIT; VPS8 VACUOLAR PROTEIN SORTING 8, S. CEREVISIAE, HOMOLOG OF Number Sign 618367 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION; NEDMEHM Asterisk 618368 DUAL-SPECIFICITY PHOSPHATASE 26; DUSP26 MITOGEN-ACTIVATED PROTEIN KINASE PHOSPHATASE 8; MKP8;; LOW MOLECULAR MASS DUAL-SPECIFICITY PHOSPHATASE 4; LDP4;; NEUROENDOCRINE-ASSOCIATED PHOSPHATASE; NEAP Number Sign 618369 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27 Asterisk 618370 NEXN ANTISENSE RNA 1, NONCODING; NEXNAS1 LONG NONCODING RNA NEXNAS1;; lncRNA NEXNAS1 Number Sign 618371 TURNPENNY-FRY SYNDROME; TPFS NEUROCARDIOSKELETAL SYNDROME Number Sign 618372 GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP PHOSPHOLIPASE A2, GROUP IVA, DEFICIENCY OF Number Sign 618373 CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA; CAPOK Number Sign 618374 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72; EIEE72 Asterisk 618375 FATTY ACID AMIDE HYDROLASE PSEUDOGENE 1; FAAHP1 FAAH PSEUDOGENE 1;; FAAH-OUT;; LONG INTERGENIC NONCODING RNA 505; LINC00505;; lincRNA 505 Asterisk 618376 PROTEASE, SERINE, 23; PRSS23 Number Sign 618377 PAIN SENSITIVITY QUANTITATIVE TRAIT LOCUS 1; PAINQTL1 INSENSITIVITY TO PAIN Number Sign 618378 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38 Number Sign 618379 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 73; EIEE73 Asterisk 618380 FAMILY WITH SEQUENCE SIMILARITY 83, MEMBER D; FAM83D CHICA Number Sign 618381 FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME; FHEIG Asterisk 618382 CYTOSOLIC IRON-SULFUR ASSEMBLY COMPONENT 2A; CIAO2A CIA2A;; FAMILY WITH SEQUENCE SIMILARITY 96, MEMBER A; FAM96A Number Sign 618383 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69; MRT69 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 69 Number Sign 618384 LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE; ARLIAK Asterisk 618385 CYCLASE-ASSOCIATED ACTIN CYTOSKELETON REGULATORY PROTEIN 2; CAP2 CYCLASE-ASSOCIATED PROTEIN 2 Number Sign 618386 AMELOGENESIS IMPERFECTA, TYPE IIIC; AI3C AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE Number Sign 618387 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3; SCAN3 Number Sign 618388 FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 Number Sign 618389 FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 Asterisk 618390 BONE MORPHOGENETIC PROTEIN/RETINOIC ACID-INDUCIBLE NEURAL-SPECIFIC PROTEIN 3; BRINP3 FAMILY WITH SEQUENCE SIMILARITY 5, MEMBER C; FAM5C Asterisk 618391 DIPHTHAMIDE BIOSYNTHESIS PROTEIN 6; DPH6 DPH6, S. CEREVISIAE, HOMOLOG OF Number Sign 618392 SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF SED WITH ELEVATED BLOOD LYSOSOMAL ENZYMES Number Sign 618393 FETAL AKINESIA DEFORMATION SEQUENCE 4; FADS4 Number Sign 618394 IMMUNODEFICIENCY 60; IMD60 IMMUNODEFICIENCY AND AUTOIMMUNITY, BACH2-RELATED; BRIDA Number Sign 618395 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3; SEMDJL3 Number Sign 618396 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74; EIEE74 Number Sign 618397 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39 Number Sign 618398 T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE; SPTCL Asterisk 618399 GLYCOSYLTRANSFERASE 8 DOMAIN-CONTAINING PROTEIN 1; GLT8D1 Number Sign 618400 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE; CMT2EE CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE Asterisk 618401 FAMILY WITH SEQUENCE SIMILARITY 170, MEMBER A; FAM170A ZINC FINGER DOMAIN-CONTAINING PROTEIN; ZNFD Number Sign 618402 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; MRT70 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 70 Asterisk 618403 FAMILY WITH SEQUENCE SIMILARITY 124, MEMBER B; FAM124B Number Sign 618404 LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18 Asterisk 618405 ZINC FINGER PROTEIN 717; ZNF717 OSTEOBLAST INDUCER 1; OBI1 Number Sign 618406 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20 OBESITY;; MELANOCORTIN 4 RECEPTOR DEFICIENCY;; MC4R DEFICIENCY OBESITY, RESISTANCE TO, INCLUDED Asterisk 618407 MINDY LYSINE-48 DEUBIQUITINASE 1; MINDY1 MIU-CONTAINING DEUBIQUITINASE FAMILY, MEMBER 1;; MIU-CONTAINING DUB FAMILY, MEMBER 1;; FAMILY WITH SEQUENCE SIMILARITY 63, MEMBER A; FAM63A Asterisk 618408 MINDY LYSINE-48 DEUBIQUITINASE 2; MINDY2 MIU-CONTAINING DEUBIQUITINASE FAMILY, MEMBER 2;; MIU-CONTAINING DUB FAMILY, MEMBER 2;; FAMILY WITH SEQUENCE SIMILARITY 63, MEMBER B; FAM63B Asterisk 618409 FAMILY WITH SEQUENCE SIMILARITY 8, MEMBER A1; FAM8A1 Number Sign 618410 DEAFNESS, AUTOSOMAL RECESSIVE 113; DFNB113 Asterisk 618411 FTSJ RNA 2-PRIME-O-METHYLTRANSFERASE 3; FTSJ3 FtsJ, E. COLI, HOMOLOG OF, 3 Number Sign 618412 GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA Asterisk 618413 FAMILY WITH SEQUENCE SIMILARITY 149, MEMBER B1; FAM149B1 KIAA0974 Number Sign 618414 MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY; MYOFTA Number Sign 618415 CATARACT 48; CTRCT48 Number Sign 618416 METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN Asterisk 618417 MEIOTIC DOUBLE-STRANDED BREAK FORMATION PROTEIN 4; MEI4 MEI4, S. CEREVISIAE, HOMOLOG OF Number Sign 618418 SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT; SPG80 Number Sign 618419 GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY; GDRM Number Sign 618420 SPERMATOGENIC FAILURE 36; SPGF36 Asterisk 618421 REC114 MEIOTIC RECOMBINATION PROTEIN; REC114 REC114, S. CEREVISIAE, HOMOLOG OF Number Sign 618422 DEAFNESS, AUTOSOMAL RECESSIVE 100; DFNB100 Asterisk 618423 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 31; ANKRD31 Asterisk 618424 ARMADILLO REPEAT-CONTAINING PROTEIN 2; ARMC2 Number Sign 618425 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS; NEDISHM Number Sign 618426 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9; IIAE9 Asterisk 618427 PROTON-ACTIVATED CHLORIDE CHANNEL 1; PACC1 PAC;; TRANSMEMBRANE PROTEIN 206; TMEM206 Number Sign 618428 POPOV-CHANG SYNDROME; POPCHAS NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND DYSMORPHIC FEATURES; NEDISDF Number Sign 618429 SPERMATOGENIC FAILURE 37; SPGF37 Number Sign 618430 DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; DDVIBA Number Sign 618431 HYDATIDIFORM MOLE, RECURRENT, 3; HYDM3 Number Sign 618432 HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4 Number Sign 618433 SPERMATOGENIC FAILURE 38; SPGF38 Number Sign 618434 DEAFNESS, AUTOSOMAL RECESSIVE 94; DFNB94 Number Sign 618435 ARTHROGRYPOSIS, DISTAL, TYPE 2B2; DA2B2 Number Sign 618436 ARTHROGRYPOSIS, DISTAL, TYPE 2B3; DA2B3 Number Sign 618437 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75; EIEE75 Number Sign 618438 SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE; SPAX9 Asterisk 618439 UBIQUITIN-SPECIFIC PROTEASE 45; USP45 Number Sign 618440 OCULOSKELETODENTAL SYNDROME; OCSKD CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES Asterisk 618441 ADHESION G PROTEIN-COUPLED RECEPTOR G3; ADGRG3 G PROTEIN-COUPLED RECEPTOR 97; GPR97 Asterisk 618442 POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 8; KCTD8 Number Sign 618443 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES; NEDBA Asterisk 618444 PLASMINOGEN RECEPTOR WITH C-TERMINAL LYSINE; PLGRKT PLASMINOGEN RECEPTOR KT Asterisk 618445 GHRELIN OPPOSITE STRAND, NONCODING; GHRLOS Asterisk 618446 GLYPICAN 2; GPC2 CEREBROGLYCAN Number Sign 618447 LONG QT SYNDROME 8; LQT8 Asterisk 618448 G PROTEIN-COUPLED RECEPTOR 139; GPR139 GPRG1 Number Sign 618449 CILIARY DYSKINESIA, PRIMARY, 41; CILD41 Asterisk 618450 RHOTEKIN 2; RTKN2 Number Sign 618451 NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA; NDCAMA Asterisk 618452 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY B, MEMBER 2; PLEKHB2 EVECTIN 2; EVT2 Number Sign 618453 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES; IDDSSA Number Sign 618454 DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; DEDDFA Asterisk 618455 HEPHAESTIN-LIKE PROTEIN 1; HEPHL1 ZYKLOPEN; ZP Number Sign 618456 DEAFNESS, AUTOSOMAL RECESSIVE 114; DFNB114 Number Sign 618457 DEAFNESS, AUTOSOMAL RECESSIVE 115; DFNB115 Number Sign 618459 IMMUNODEFICIENCY 62; IMD62 Number Sign 618460 KHAN-KHAN-KATSANIS SYNDROME; 3KS 3K SYNDROME Asterisk 618461 NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 8; NDUFAF8 NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX ASSEMBLY FACTOR 8;; CHROMOSOME 17 OPEN READING FRAME 89; C17ORF89 Number Sign 618462 BLEEDING DISORDER, PLATELET-TYPE, 22; BDPLT22 Number Sign 618464 PARAGANGLIOMAS 6; PGL6 Asterisk 618465 BROMODOMAIN-CONTAINING PROTEIN 9; BRD9 Asterisk 618466 BIOGENESIS OF RIBOSOMES, XENOPUS, HOMOLOG OF, 1; BRIX1 BRIX;; BRX1 Asterisk 618467 SMC5-SMC6 COMPLEX LOCALIZATION FACTOR 1; SLF1 BRCT DOMAIN-CONTAINING PROTEIN X; BRCTX Number Sign 618468 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76; EIEE76 DEVELOPMENTAL DELAY, EPILEPTIC ENCEPHALOPATHY, CEREBRAL ATROPHY, AND ABNORMAL MYELINATION; DECAM Number Sign 618469 CONTRACTURES, PTERYGIA, AND VARIABLE SKELETAL FUSIONS SYNDROME 1B; CPSKF1B Number Sign 618470 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS; IDDSSAD Asterisk 618471 RIBOSOME PRODUCTION FACTOR 2, S. CEREVISIAE, HOMOLOG OF; RPF2 BRIX DOMAIN-CONTAINING PROTEIN 1; BXDC1 Asterisk 618472 ASPARAGINASE; ASPG LYSOPHOSPHOLIPASE, 60-KD; LYSOLP Asterisk 618473 EUKARYOTIC TRANSLATION INITIATION FACTOR 1A DOMAIN-CONTAINING PROTEIN; EIF1AD EIF1A DOMAIN-CONTAINING PROTEIN;; OBELIX Asterisk 618474 WDR83 OPPOSITE STRAND; WDR83OS CHROMOSOME 19 OPEN READING FRAME 56; C19ORF56;; ASTERIX Number Sign 618475 PARAGANGLIOMAS 7; PGL7 Number Sign 618476 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS; BANDDOS Number Sign 618477 URIDINE-CYTIDINEURIA; URCTU Asterisk 618478 FYN-BINDING PROTEIN 2; FYB2 ACTIVATION-DEPENDENT RAFT-RECRUITED ADAP-LIKE PHOSPHOPROTEIN; ARAP;; CHROMOSOME 1 OPEN READING FRAME 168; C1ORF168 Number Sign 618479 CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME; COFG Number Sign 618480 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI Number Sign 618481 DEAFNESS, AUTOSOMAL RECESSIVE 99; DFNB99 Number Sign 618482 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10; GEFSP10 GEFS+, TYPE 10; GEFS+10 Asterisk 618483 LLGL SCRIBBLE CELL POLARITY COMPLEX COMPONENT 2; LLGL2 LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 2 Number Sign 618484 ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE; AMCM Asterisk 618485 ZBTB40 INTRONIC TRANSCRIPT 1, NONCODING; ZBTB40IT1 LONG NONCODING RNA ZBTB40IT1;; lncRNA ZBTB40IT1 Asterisk 618486 PHOSPHOLIPASE B DOMAIN-CONTAINING PROTEIN 1; PLBD1 Asterisk 618487 G PROTEIN-COUPLED RECEPTOR 151; GPR151 GALANIN RECEPTOR-LIKE PROTEIN; GALRL;; GALANIN RECEPTOR 4; GALR4 Asterisk 618488 PHOSPHOLIPASE D FAMILY, MEMBER 4; PLD4 Asterisk 618489 BROMODOMAIN-CONTAINING PROTEIN 7; BRD7 BROMODOMAIN PROTEIN, 75-KD; BP75 Asterisk 618490 G PROTEIN-COUPLED RECEPTOR 107; GPR107 LUNG 7-TRANSMEMBRANE RECEPTOR 1; LUSTR1 Asterisk 618491 G PROTEIN-COUPLED RECEPTOR 108; GPR108 LUNG 7-TRANSMEMBRANE RECEPTOR 2; LUSTR2 Number Sign 618492 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA Number Sign 618493 HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES; HIDEA Number Sign 618494 CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA Number Sign 618495 IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD63 INTERLEUKIN 2 RECEPTOR, BETA, DEFICIENCY OF;; IL2RB DEFICIENCY;; CD122 DEFICIENCY Number Sign 618496 AORTIC VALVE DISEASE 3; AOVD3 Number Sign 618497 NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS; NEDNEH Number Sign 618498 POLYDACTYLY, POSTAXIAL, TYPE A10; PAPA10 Number Sign 618499 NOONAN SYNDROME 11; NS11 Number Sign 618500 HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS; HPE12 Number Sign 618501 CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD Asterisk 618502 BRD4-INTERACTING CHROMATIN REMODELING COMPLEX-ASSOCIATED PROTEIN-LIKE; BICRAL GLIOMA TUMOR SUPPRESSOR CANDIDATE REGION GENE 1-LIKE; GLTSCR1L;; KIAA0240 Asterisk 618503 PROTEIN O-GLUCOSYLTRANSFERASE 3; POGLUT3 KDEL MOTIF-CONTAINING PROTEIN 2; KDELC2 Number Sign 618504 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71; MRT71 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 71 Number Sign 618505 NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; NEDCFSA Number Sign 618506 COFFIN-SIRIS SYNDROME 10; CSS10 Asterisk 618507 WOUND- AND KERATINOCYTE MIGRATION-ASSOCIATED LONG NONCODING RNA 1; WAKMAR1 lncRNA WAKMAR1 Asterisk 618508 WOUND- AND KERATINOCYTE MIGRATION-ASSOCIATED LONG NONCODING RNA 2; WAKMAR2 lncRNA WAKMAR2;; LOC100130476 Asterisk 618509 OLFACTORY RECEPTOR, FAMILY 2, SUBFAMILY M, MEMBER 7; OR2M7 Asterisk 618510 DYSTROTELIN; DYTN Number Sign 618511 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY; HMSN6C HMSN VIC;; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6C; CMT6C Number Sign 618512 O'DONNELL-LURIA-RODAN SYNDROME; ODLURO Number Sign 618513 LEBER CONGENITAL AMAUROSIS 19; LCA19 Asterisk 618514 BRMS1-LIKE TRANSCRIPTIONAL REPRESSOR; BRMS1L BREAST CANCER METASTASIS-SUPPRESSOR 1-LIKE PROTEIN;; BRMS1-LIKE PROTEIN p40 Asterisk 618515 TRANSMEMBRANE PROTEIN 33; TMEM33 Asterisk 618516 OLFACTORY RECEPTOR, FAMILY 14, SUBFAMILY I, MEMBER 1; OR14I1 Asterisk 618517 ANGIOPOIETIN-LIKE 7; ANGPTL7 CORNEA-DERIVED TRANSCRIPT 6; CDT6 Asterisk 618518 LONG INTERGENIC NONCODING RNA 261; LINC00261 FOXA2-ADJACENT LONG NONCODING RNA; FALCOR;; HEPATOCELLULAR CARCINOMA DOWN-REGULATED RNA 1; HCCDR1;; DEFINITIVE ENDODERM-ASSOCIATED LONG NONCODING RNA 1; DEANR1 Asterisk 618519 CHROMOSOME 2 OPEN READING FRAME 68; C2ORF68 HCRCN81 Asterisk 618520 EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 9; EFCAB9 Asterisk 618521 ARMADILLO REPEAT-CONTAINING PROTEIN 8; ARMC8 Number Sign 618522 INTELLECTUAL DEVELOPMENTAL DISORDER 59; MRD59 MENTAL RETARDATION, AUTOSOMAL DOMINANT 59 Number Sign 618523 HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE; HIES4 Asterisk 618526 PEAK FAMILY MEMBER 3; PEAK3 CHROMOSOME 19 OPEN READING FRAME 35; C19ORF35 Number Sign 618527 ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FEATURES; IKSHD # # # # # MIM number prefix: # ------------------ # Asterisk (*) Gene # Plus (+) Gene and phenotype, combined # Number Sign (#) Phenotype, molecular basis known # Percent (%) Phenotype or locus, molecular basis unknown # NULL () Other, mainly phenotypes with suspected mendelian basis # Caret (^) Entry has been removed from the database or moved to another entry #