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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 ▼ |
|---|---|---|---|---|---|
| C0007193 | Cardiomyopathy, Dilated | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0009714 | Hepatic Fibrosis, Congenital | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0241005 | Creatine phosphokinase serum increased | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C4551675 | Keratoderma, Palmoplantar | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0340427 | Familial dilated cardiomyopathy | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0018784 | Sensorineural Hearing Loss (disorder) | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1449563 | Cardiomyopathy, Familial Idiopathic | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0282577 | Congenital Disorders of Glycosylation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C3714756 | Intellectual Disability | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0520947 | Clumsiness - motor delay | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0010417 | Cryptorchidism | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C1956346 | Coronary Artery Disease | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C3150876 | COG5 congenital disorder of glycosylation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0004238 | Atrial Fibrillation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0235480 | Paroxysmal atrial fibrillation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0016719 | Friedreich Ataxia | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0036572 | Seizures | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0079924 | Oligohydramnios | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0018784 | Sensorineural Hearing Loss (disorder) | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0029408 | Degenerative polyarthritis | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0038379 | Strabismus | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0042133 | Uterine Fibroids | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0002395 | Alzheimer's Disease | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0025958 | Microcephaly | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0036857 | Severe intellectual disability | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
