Gene: ACTA2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.030 GeneticVariation disease BEFREE We examined the biochemical and cell biological properties of the α-cardiac actin mutations Y166C and M305L identified in hypertrophic cardiomyopathy (HCM). 22643837 2012
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.030 GeneticVariation disease BEFREE Alpha-cardiac actin is one of the disease genes where different missense mutations have been found to cause either HCM or DCM. 15819894 2005
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.030 GeneticVariation disease BEFREE Here, actin mutants corresponding to alpha-cardiac actin mutations causing hypertrophic cardiomyopathy [(HCM) P164A and A331P] and dilated cardiomyopathy [(DCM) R312H and E361G] were expressed in yeast and purified for in vitro functional studies. 12222827 2001