ACTC1, actin alpha cardiac muscle 1, 70

N. diseases: 69; N. variants: 26
Disease: Congestive heart failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.120 GeneticVariation disease BEFREE We propose that the ACTC E99K mutation causes higher myofibrillar Ca(2+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice. 21622575 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.120 GeneticVariation disease BEFREE To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC). 9563954 1998
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.120 Biomarker disease HPO