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 		0.020 GeneticVariation group BEFREE This mutation and 2 other ACTC1 mutations (p.(Glu101Lys) and p.(Met125Val)) which result also in congenital heart defects are located in a region in close apposition to a myosin heavy chain head region by contrast to 3 other alpha-cardiac actin mutations (p.(Ala297Ser),p.(Asp313His) and p.(Arg314His)) which result in diverse cardiomyopathies and are located in a totally different interaction surface. 26061005 2015
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.020 GeneticVariation group BEFREE Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 24736382 2014