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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 |
|---|---|---|---|---|---|
| C0272375 | Antithrombin III Deficiency | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0271561 | Somatotropin deficiency | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0854723 | Retinal Dystrophies | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0015393 | Eye Abnormalities | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0520947 | Clumsiness - motor delay | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0266551 | Congenital coloboma of iris | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0009363 | Congenital ocular coloboma (disorder) | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0010038 | Corneal Opacity | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0042798 | Low Vision | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0019294 | Hernia, Inguinal | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0338502 | Hypoplasia of the optic nerve | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0022336 | Creutzfeldt-Jakob disease | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C2981150 | Uranostaphyloschisis | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0017601 | Glaucoma | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0870082 | Hyperkeratosis | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0376358 | Malignant neoplasm of prostate | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0036857 | Severe intellectual disability | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0221356 | Brachycephaly | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0000768 | Congenital Abnormality | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0029124 | Optic Atrophy | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0015397 | Disorder of eye | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C4551675 | Keratoderma, Palmoplantar | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0376329 | New Variant Creutzfeldt-Jakob Disease | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0020757 | Ichthyoses | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
