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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 |
|---|---|---|---|---|---|
| C0011351 | Dental Enamel Hypoplasia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0020433 | Hyperbilirubinemia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C4317295 | Congenital disorder of glycosylation type 1s | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0002871 | Anemia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0011334 | Dental caries | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C1531647 | Cerebral ventriculomegaly | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0030312 | Pancytopenia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C1956346 | Coronary Artery Disease | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0022596 | Palmoplantar Keratosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C3714756 | Intellectual Disability | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C1458140 | Bleeding tendency | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0036572 | Seizures | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0013421 | Dystonia | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0040034 | Thrombocytopenia | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0015934 | Fetal Growth Retardation | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0242422 | Parkinsonian Disorders | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0149931 | Migraine Disorders | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0233794 | Memory impairment | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0008489 | Chorea | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0524851 | Neurodegenerative Disorders | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0010038 | Corneal Opacity | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C1531647 | Cerebral ventriculomegaly | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0013384 | Dyskinetic syndrome | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0393590 | Fahr's syndrome (disorder) | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0025958 | Microcephaly | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
