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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 |
|---|---|---|---|---|---|
| C0036439 | Scoliosis, unspecified | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0345904 | Malignant neoplasm of liver | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C1306459 | Primary malignant neoplasm | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0086543 | Cataract | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0002395 | Alzheimer's Disease | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C2239176 | Liver carcinoma | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0239946 | Fibrosis, Liver | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C0020473 | Hyperlipidemia | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0010068 | Coronary heart disease | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C2239176 | Liver carcinoma | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0010054 | Coronary Arteriosclerosis | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C1956346 | Coronary Artery Disease | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0043208 | Wolman Disease | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C2711227 | Steatohepatitis | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0015695 | Fatty Liver | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0007570 | Celiac Disease | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0027651 | Neoplasms | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C0003850 | Arteriosclerosis | SOAT2 | 8435 | sterol O-acyltransferase 2 | O75908 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0009081 | Congenital clubfoot | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1970021 | Congenital Disorder Of Glycosylation, Type IIH | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0282577 | Congenital Disorders of Glycosylation | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0033680 | Protein-Losing Enteropathies | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0279544 | Adult Alveolar Soft Part Sarcoma | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0241005 | Creatine phosphokinase serum increased | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
