| Gene | Description | Location | Gene Omim Number | Disease Omim Number |
| AAAS | AAAS GENE; AAAS | 12q13 | 605378 | 231550 |
| ABCC6 | ANTHRACYCLINE RESISTANCE-ASSOCIATED PROTEIN; ARA | 16p13.1 | 603234 | 264800 |
| ABCD1 | ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1; ABCD1 | Xq28 | 300371 | 300100 |
| ACAD8 | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8 | 11q25 | 604773 | 611283 |
| ACADM | ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM | 1p31 | 607008 | 201450 |
| ACADS | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS | 12q22-qter | 606885 | 201470 |
| ACADSB | ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB | 10q25-q26 | 600301 | 611283 |
| ACADVL | ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN; ACADVL | 17p13.1 | 609575 | 201475 |
| ACCN1 | CATION CHANNEL AMILORIDE-SENSITIVE NEURONAL 1; ACCN1 | 17q11-q12 | 601784 | 601784 |
| ACOX | ACYL-COA OXIDASE 1 | 17q25 | 609751 | 264470 |
| ACTA1 | ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1 | 1q42.13 | 102610 | 255310 |
| ADA | ADENOSINE DEAMINASE; ADA | 20q13.11 | 608958 | 102700 |
| AGA | ASPARTYLGLUCOSAMINIDASE | 4q34.3 | 613228 | 208400 |
| ALDH3A2 | ALDEHYDE DEHYDROGENASE FAMILY 3 SUBFAMILY A MEMBER 2; ALDH3A2 | 17p11.2 | 609523 | 270200 |
| ALG12 | DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE | 22q13.33 | 607144 | 607143 |
| ALG3 | ALG3, S. CEREVISIAE, HOMOLOG OF; ALG3 | 3q27 | 608750 | 601110 |
| ALG6 | ALG6, S. CEREVISIAE, HOMOLOG OF | 1p22.3 | 604566 | 603147 |
| ALPL | PHOSPHATASE, LIVER ALKALINE; ALPL | 1p36.1-p34 | 171760 | 241510 |
| AP3B1 | ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; AP3B1 | Chromosome 5 | 603401 | 608233 |
| APC | APC GENE | 5q21-q22 | 611731 | 175100 |
| APRT | ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT
| 16q24 | 102600 | 614723 |
| ARG1 | ARGINASE LIVER; ARG1 | 6q23 | 608313 | 207800 |
| ARH | ARH GENE; ARH | 1p36-p35 | 605747 | 603813 |
| ASAH | N-ACYLSPHINGOSINE AMIDOHYDROLASE 1 | 8p22 | 613468 | 228000 |
| ASL | ARGININOSUCCINATE LYASE; ASL | 7cen-q11.2 | 608310 | 207900 |
| ASPA | ASPARTOACYLASE; ASPA | 17pter-p13 | 608034 | 271900 |
| ASS1 | ARGININOSUCCINATE SYNTHETASE 1; ASS1 | 9q34 | 603470 | 215700 |
| ATM | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM | 11q22.3 | 607585 | 208900 |
| ATP7A | ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A | Xq21.1 | 300011 | 309400 |
| ATP7B | ATPase Cu(2+)-TRANSPORTING BETA POLYPEPTIDE; ATP7B | 13q14.3 | 606882 | 277900 |
| ATR | ATAXIA-TELANGIECTASIA AND RAD3-RELATED; ATR | 3q22-q24 | 601215 | 210600 |
| ATXN1 | ATAXIN 1; ATXN1 | 6p13 | 601556 | 164400 |
| ATXN3 | ATAXIN 3; ATXN3 | 14q24.3-q31 | 607047 | 109150 |