OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 Biomarker group BEFREE Furthermore, processed OPA1 was observed in heart tissue derived from heart-specific TFAM knock-out mice suffering from mitochondrial cardiomyopathy and in skeletal muscles from patients suffering from mitochondrial myopathies such as myopathy encephalopathy lactic acidosis and stroke-like episodes. 17003040 2006
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 Biomarker group HPO