DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Myopathy, Centronuclear, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.700 Biomarker disease CLINGEN DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. 26273216 2015
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.700 Biomarker disease CLINGEN Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		0.700 Biomarker disease CLINGEN Additionally, we demonstrate that CNM-related DNM2 mutations are associated with protein mislocalization and aggregation. 31691805 2019