ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Apical hypertrophic cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4732796
Disease: Apical hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy 		0.010 GeneticVariation disease BEFREE Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 17611253 2007