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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 |
|---|---|---|---|---|---|
| C0282577 | Congenital Disorders of Glycosylation | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0007758 | Cerebellar Ataxia | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0086543 | Cataract | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C3714756 | Intellectual Disability | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C2675185 | Kahrizi Syndrome | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0948740 | Hypoplasia of the pituitary gland | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0013595 | Eczema | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0085576 | Iron-Refractory Iron Deficiency Anemia | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C3665347 | Visual Impairment | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0600139 | Prostate carcinoma | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0020676 | Hypothyroidism | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0036572 | Seizures | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0020555 | Hypertrichosis | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| 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 |
