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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0015934 | Fetal Growth Retardation | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0005697 | Neurogenic Urinary Bladder | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0013336 | Dwarfism | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C4317224 | Congenital disorder of glycosylation type 1q | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0023787 | Lipodystrophy | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1835849 | Congenital Disorder Of Glycosylation, Type Im | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0020757 | Ichthyoses | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0000768 | Congenital Abnormality | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| 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 |
| C0279626 | Squamous cell carcinoma of esophagus | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0684249 | Carcinoma of lung | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
