ACTC1, actin alpha cardiac muscle 1, 70

N. diseases: 69; N. variants: 26
Disease: Atrial Septal Defect 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 Biomarker disease GENOMICS_ENGLAND A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects. 26061005 2015
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 GeneticVariation disease CLINVAR Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 24736382 2014
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect. 24461919 2014
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 GeneticVariation disease CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 GeneticVariation disease CLINVAR Subdomain location of mutations in cardiac actin correlate with type of functional change. 22590617 2012
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 CausalMutation disease CLINVAR Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. 21622575 2011
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 GeneticVariation disease CLINVAR Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 19799913 2010
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 CausalMutation disease CLINVAR Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 19799913 2010
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 GeneticVariation disease UNIPROT Alpha-cardiac actin mutations produce atrial septal defects. 17947298 2008
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 Biomarker disease GENOMICS_ENGLAND Alpha-cardiac actin mutations produce atrial septal defects. 17947298 2008
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 CausalMutation disease CLINVAR Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 17611253 2007
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 CausalMutation disease CLINVAR Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. 16611632 2006
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 CausalMutation disease CLINVAR Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 10966831 2000
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 GeneticVariation disease CLINVAR Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 9563954 1998
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 Biomarker disease CTD_human