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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 ▲ |
|---|---|---|---|---|---|
| C1864446 | Retinitis Pigmentosa 25 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0011847 | Diabetes | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0027651 | Neoplasms | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0339527 | Leber Congenital Amaurosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0079583 | Ichthyosiform Erythroderma, Congenital | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0001418 | Adenocarcinoma | CHST5 | 23563 | carbohydrate sulfotransferase 5 | Q9GZS9 |
| C0339535 | Night blindness, congenital stationary | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1848172 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0038379 | Strabismus | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0028077 | Nyctalopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C3495587 | Night Blindness, Congenital Stationary, Type 1A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0035309 | Retinal Diseases | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0007682 | CNS disorder | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0027092 | Myopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0023418 | leukemia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0152200 | Achromatopsia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0015397 | Disorder of eye | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0028738 | Nystagmus | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0018975 | Hemeralopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1849394 | Enhanced S-Cone Syndrome | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0271093 | Stargardt's disease | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1850362 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0035334 | Retinitis Pigmentosa | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1849792 | Achromatopsia 3 | NYX | 60506 | nyctalopin | Q9GZU5 |
| C2931258 | Amaurosis congenita of Leber, type 1 | NYX | 60506 | nyctalopin | Q9GZU5 |
