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
Displaying entries 40951 - 40975 of 62743 in total
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