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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 ▼ |
|---|---|---|---|---|---|
| C0035305 | Retinal Detachment | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0149925 | Small cell carcinoma of lung | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0027092 | Myopia | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0520947 | Clumsiness - motor delay | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0017601 | Glaucoma | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0086543 | Cataract | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0338502 | Hypoplasia of the optic nerve | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0026010 | Microphthalmos | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C4284790 | Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0035304 | Retinal Degeneration | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0456909 | Blindness | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0410174 | Fukuyama Type Congenital Muscular Dystrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C1847540 | Azoospermia, Nonobstructive | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0033860 | Psoriasis | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0027651 | Neoplasms | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C1800706 | Idiopathic Pulmonary Fibrosis | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C1704272 | Benign Prostatic Hyperplasia | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C2239176 | Liver carcinoma | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0003850 | Arteriosclerosis | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0003872 | Arthritis, Psoriatic | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0015625 | Fanconi Anemia | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0020459 | Hyperinsulinism | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0018802 | Congestive heart failure | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
