Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.410 SusceptibilityMutation ORPHANET Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.310 GermlineCausalMutation ORPHANET Alpha-cardiac actin mutations produce atrial septal defects. 17947298

2008
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.310 GermlineCausalMutation ORPHANET Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 9563954

1998