ACTN2, actinin alpha 2, 88

N. diseases: 35; N. variants: 9
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 GeneticVariation group BEFREE Dominant ACTN2 mutations were previously associated with cardiomyopathies, and our data demonstrate that specific mutations in the well-known Z-line regulator alpha-actinin-2 can cause a skeletal muscle disorder. 30701273 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.110 Biomarker group HPO