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 |
---|---|---|---|---|---|
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 |
C2875316 | Myotubular (centronuclear) myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0175709 | Centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0007959 | Charcot-Marie-Tooth Disease | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0017661 | IGA Glomerulonephritis | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0015469 | Facial paralysis | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0752282 | Congenital Structural Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0410203 | X-linked centronuclear myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
C1834558 | Myopathy, Centronuclear, Autosomal Dominant | MTM1 | 4534 | myotubularin 1 | Q13496 |
C4082197 | Charcot-Marie-Tooth disease type 4 | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0026848 | Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
C0546264 | Congenital Fiber Type Disproportion | MTM1 | 4534 | myotubularin 1 | Q13496 |
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Last updated: August 19, 2024