ACTC1, actin alpha cardiac muscle 1, 70

N. diseases: 69; N. variants: 26
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect. 27139165 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. 24461919 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Alpha-cardiac actin mutations produce atrial septal defects. 17947298 2008
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 17611253 2007