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GeneDescriptionLocationGene Omim NumberDisease Omim Number
AAASAAAS GENE; AAAS12q13605378605378
AAVS1ADENO-ASSOCIATED VIRUS INTEGRATION SITE 1; AAVS119q13.4-qter102699102699
ABCC6ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC616p13.1603234603234
ABCD1ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1Xq28300371300371
ACAD8ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD811q25604773604773
ACADMACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM1p31607008607008
ACADSACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS12q22-qter606885606885
ACADSBACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB10q25-q26600301600301
ACADVLACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL17p13.1609575609575
ACCN1CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 1; ACCN117q11-q12601784601784
ACOXACYL-CoA OXIDASE 1, PALMITOYL; ACOX117q25609751264470
ACTA1ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA11q42.13102610102610
ACTBANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT7p22.1106230102630
ACTN2ACTININ, ALPHA-2; ACTN21q43102573102573
ADAADENOSINE DEAMINASE; ADA20q13.11608958608958
ADAMTSL2ADAMTS-LIKE PROTEIN 2; ADAMTSL29q34.2612277612277
AGAASPARTYLGLUCOSAMINIDASE; AGA4q34.3613228613228
ALDH3A2ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A217p11.2609523609523
ALG12ALG12 ALPHA-1,6-MANNOSYLTRANSFERASE; ALG1222q13.33607144607144
ALG3ALG3 ALPHA-1,3-MANNOSYLTRANSFERASE; ALG33q27608750608750
ALG6ALG6 ALPHA-1,3-GLUCOSYLTRANSFERASE; ALG61p22.3604566604566
ALPLALKALINE PHOSPHATASE, LIVER; ALPL1p36.1-p34171760171760
AP3B1ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1Chromosome 5603401603401
APCAPC REGULATOR OF WNT SIGNALING PATHWAY; APC5q21-q22611731611731
APOEAPOLIPOPROTEIN E; APOE19q13.2107741107741
APRTADENINE PHOSPHORIBOSYLTRANSFERASE; APRT16q24102600102600
ARG1ARGINASE 1; ARG16q23608313608313
ARHLOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP11p36-p35605747603813
ASAHN-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH18p22613468228000
ASLARGININOSUCCINATE LYASE; ASL7cen-q11.2608310608310
ASPAASPARTOACYLASE; ASPA17pter-p13608034608034
ASS1ARGININOSUCCINATE SYNTHETASE 1; ASS19q34603470603470
ATMATAXIA-TELANGIECTASIA MUTATED GENE; ATM11q22.3607585607585
ATP2A2ATPase, Ca(2+)-TRANSPORTING, SLOW-TWITCH; ATP2A212q24.11108740108740
ATP7AATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7AXq21.1300011300011
ATP7BATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B13q14.3606882606882
ATRATR SERINE/THREONINE KINASE; ATR3q22-q24601215601215
ATXN1ATAXIN 1; ATXN16p13601556601556
ATXN3ATAXIN 3; ATXN314q24.3-q31607047607047

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