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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 |
|---|---|---|---|---|---|
| C0009375 | Colonic Neoplasms | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0024591 | Malignant hyperpyrexia due to anesthesia | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0023467 | Leukemia, Myelocytic, Acute | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0007102 | Malignant tumor of colon | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0004245 | Atrioventricular Block | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0175702 | Williams Syndrome | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C2239176 | Liver carcinoma | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0220633 | Uveal melanoma | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0018790 | Cardiac Arrest | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0035334 | Retinitis Pigmentosa | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C1833245 | Retinitis Pigmentosa 17 | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0029089 | Ophthalmoplegia | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0028754 | Obesity | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0007102 | Malignant tumor of colon | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0022578 | Keratoconus | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C3714756 | Intellectual Disability | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0029124 | Optic Atrophy | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0085636 | Photophobia | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0009402 | Colorectal Carcinoma | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0015397 | Disorder of eye | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0020619 | Hypogonadism | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0086543 | Cataract | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0004943 | Behcet Syndrome | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0456909 | Blindness | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0009375 | Colonic Neoplasms | CA4 | 762 | carbonic anhydrase 4 | P22748 |
