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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 ▼ |
|---|---|---|---|---|---|
| C0699790 | Colon Carcinoma | TKTL2 | 84076 | transketolase like 2 | Q9H0I9 |
| C0011847 | Diabetes | TKTL2 | 84076 | transketolase like 2 | Q9H0I9 |
| C1306459 | Primary malignant neoplasm | TKTL2 | 84076 | transketolase like 2 | Q9H0I9 |
| C2239176 | Liver carcinoma | TKTL2 | 84076 | transketolase like 2 | Q9H0I9 |
| C0019569 | Hirschsprung Disease | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C0027662 | Multiple Endocrine Neoplasia | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C0030319 | Panic Disorder | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C4048306 | Multiple endocrine neoplasia Type 2 | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C0004096 | Asthma | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C0024439 | Macular corneal dystrophy | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C1636149 | Macular dystrophy, corneal type 1 | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0085636 | Photophobia | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0010036 | Corneal dystrophy | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C1691013 | Macular corneal dystrophy Type II (disorder) | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0002726 | Amyloidosis | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0155119 | Recurrent erosion of cornea | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| C0242383 | Age related macular degeneration | CHST6 | 4166 | carbohydrate sulfotransferase 6 | Q9GZX3 |
| 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 |
