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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 |
|---|---|---|---|---|---|
| C0018784 | Sensorineural Hearing Loss (disorder) | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0004238 | Atrial Fibrillation | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0009806 | Constipation | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0036572 | Seizures | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0020445 | Hypercholesterolemia, Familial | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C4479353 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0020597 | Hypobetalipoproteinemias | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0745103 | Hyperlipoproteinemia Type IIa | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C1956346 | Coronary Artery Disease | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0699791 | Stomach Carcinoma | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0003873 | Rheumatoid Arthritis | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0282577 | Congenital Disorders of Glycosylation | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0024623 | Malignant neoplasm of stomach | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0426970 | Spastic Quadriplegia | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0007222 | Cardiovascular Diseases | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0342770 | Fumarase deficiency | FH | 2271 | fumarate hydratase | P07954 |
| C1306459 | Primary malignant neoplasm | FH | 2271 | fumarate hydratase | P07954 |
| C0007134 | Renal Cell Carcinoma | FH | 2271 | fumarate hydratase | P07954 |
| C0027651 | Neoplasms | FH | 2271 | fumarate hydratase | P07954 |
| C0024314 | Lymphoproliferative Disorders | FH | 2271 | fumarate hydratase | P07954 |
| C0241910 | Autoimmune Chronic Hepatitis | FH | 2271 | fumarate hydratase | P07954 |
| C0042133 | Uterine Fibroids | FH | 2271 | fumarate hydratase | P07954 |
| C0032461 | Polycythemia | FH | 2271 | fumarate hydratase | P07954 |
