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 |
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Last updated: August 19, 2024