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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0028738 | Nystagmus | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0033578 | Prostatic Neoplasms | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0206733 | Strawberry nevus of skin | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0684276 | Hypsarrhythmia | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0004352 | Autistic Disorder | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | IPPK | 64768 | inositol-pentakisphosphate 2-kinase | Q9H8X2 |
| C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0013336 | Dwarfism | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028738 | Nystagmus | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0040034 | Thrombocytopenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028077 | Nyctalopia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0035334 | Retinitis Pigmentosa | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0452138 | Sensorineural hearing loss, bilateral | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0235991 | Small for gestational age (disorder) | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015934 | Fetal Growth Retardation | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0009081 | Congenital clubfoot | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0264611 | Apraxia of Phonation | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015300 | Exophthalmos | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
