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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0263505 | Alopecia universalis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C4049090 | Alopecia, Androgenetic, 1 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2678038 | Alopecia, Androgenetic, 2 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2676272 | Alopecia, Androgenetic, 3 | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C4083212 | Alopecia, Male Pattern | AGA | 175 | aspartylglucosaminidase | P20933 |
| C4083212 | Alopecia, Male Pattern | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C4083212 | Alopecia, Male Pattern | VCAN | 1462 | versican | P13611 |
| C4083212 | Alopecia, Male Pattern | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C4083212 | Alopecia, Male Pattern | STS | 412 | steroid sulfatase | P08842 |
| C4083212 | Alopecia, Male Pattern | PRNP | 5621 | prion protein | P04156 |
| C4083212 | Alopecia, Male Pattern | PRNP | 5621 | prion protein | F7VJQ1 |
| C4083212 | Alopecia, Male Pattern | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C4083212 | Alopecia, Male Pattern | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0205710 | Alpers Syndrome (disorder) | PRNP | 5621 | prion protein | P04156 |
| C0205710 | Alpers Syndrome (disorder) | PRNP | 5621 | prion protein | F7VJQ1 |
| C1260396 | Alpha thalassemia intermedia | PC | 5091 | pyruvate carboxylase | P11498 |
| C3280428 | Alpha-Methylacyl-CoA Racemase Deficiency | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C3280428 | Alpha-Methylacyl-CoA Racemase Deficiency | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C2936332 | Alpha-Sarcoglycanopathies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1567741 | Alport Syndrome | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1567741 | Alport Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1567741 | Alport Syndrome | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1567741 | Alport Syndrome | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0152205 | Alternating esotropia | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0206657 | Alveolar Soft Part Sarcoma | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
