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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 ▼ |
|---|---|---|---|---|---|
| C0235946 | Cerebral atrophy | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0005779 | Blood Coagulation Disorders | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0027947 | Neutropenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0025958 | Microcephaly | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C3888417 | CATARACT 5, MULTIPLE TYPES | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0086543 | Cataract | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0520947 | Clumsiness - motor delay | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | IPPK | 64768 | inositol-pentakisphosphate 2-kinase | Q9H8X2 |
| C4317224 | Congenital disorder of glycosylation type 1q | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0010495 | Cutis Laxa | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| 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 |
