| Gene | Description | Location | Gene Omim Number | Disease Omim Number |
| AAAS | AAAS GENE; AAAS | 12q13 | 605378 | 605378 |
| ABCC6 | ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6 | 16p13.1 | 603234 | 603234 |
| ABCD1 | ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1 | Xq28 | 300371 | 300371 |
| ACAD8 | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8 | 11q25 | 604773 | 604773 |
| ACADM | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM | 1p31 | 607008 | 607008 |
| ACADS | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS | 12q22-qter | 606885 | 606885 |
| ACADSB | ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB | 10q25-q26 | 600301 | 600301 |
| ACADVL | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL | 17p13.1 | 609575 | 609575 |
| ACCN1 | CATION CHANNEL, AMILORIDE-SENSITIVE, NEURONAL, 1; ACCN1 | 17q11-q12 | 601784 | 601784 |
| ACOX | ACYL-CoA OXIDASE 1, PALMITOYL; ACOX1 | 17q25 | 609751 | 264470 |
| ACTA1 | ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 | 1q42.13 | 102610 | 102610 |
| ADA | ADENOSINE DEAMINASE; ADA | 20q13.11 | 608958 | 608958 |
| AGA | ASPARTYLGLUCOSAMINIDASE; AGA | 4q34.3 | 613228 | 613228 |
| ALDH3A2 | ALDEHYDE DEHYDROGENASE, FAMILY 3, SUBFAMILY A, MEMBER 2; ALDH3A2 | 17p11.2 | 609523 | 609523 |
| ALG12 | ALG12 ALPHA-1,6-MANNOSYLTRANSFERASE; ALG12 | 22q13.33 | 607144 | 607144 |
| ALG3 | ALG3 ALPHA-1,3-MANNOSYLTRANSFERASE; ALG3 | 3q27 | 608750 | 608750 |
| ALG6 | ALG6 ALPHA-1,3-GLUCOSYLTRANSFERASE; ALG6 | 1p22.3 | 604566 | 604566 |
| ALPL | ALKALINE PHOSPHATASE, LIVER; ALPL | 1p36.1-p34 | 171760 | 171760 |
| AP3B1 | ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1 | Chromosome 5 | 603401 | 603401 |
| APC | APC REGULATOR OF WNT SIGNALING PATHWAY; APC | 5q21-q22 | 611731 | 611731 |
| APRT | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT | 16q24 | 102600 | 102600 |
| ARG1 | ARGINASE 1; ARG1 | 6q23 | 608313 | 608313 |
| ARH | LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1; LDLRAP1 | 1p36-p35 | 605747 | 603813 |
| ASAH | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1 | 8p22 | 613468 | 228000 |
| ASL | ARGININOSUCCINATE LYASE; ASL | 7cen-q11.2 | 608310 | 608310 |
| ASPA | ASPARTOACYLASE; ASPA | 17pter-p13 | 608034 | 608034 |
| ASS1 | ARGININOSUCCINATE SYNTHETASE 1; ASS1 | 9q34 | 603470 | 603470 |
| ATM | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM | 11q22.3 | 607585 | 607585 |
| ATP7A | ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A | Xq21.1 | 300011 | 300011 |
| ATP7B | ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B | 13q14.3 | 606882 | 606882 |
| ATR | ATR SERINE/THREONINE KINASE; ATR | 3q22-q24 | 601215 | 601215 |
| ATXN1 | ATAXIN 1; ATXN1 | 6p13 | 601556 | 601556 |
| ATXN3 | ATAXIN 3; ATXN3 | 14q24.3-q31 | 607047 | 607047 |