Gene: ACTC1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease HPO
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 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: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease CLINVAR Advanced heart failure with preserved systolic function in nonobstructive hypertrophic cardiomyopathy: under-recognized subset of candidates for heart transplant. 25239116 2014
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. 10330430 1999
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 CausalMutation disease CLINVAR Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 24736382 2014
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 24736382 2014
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease BEFREE C57Bl6 × CBA/Ca mice carrying a cardiac actin ( ACTC) E99K (Glu99Lys) mutation reproduce many aspects of human hypertrophic cardiomyopathy, including increased myofilament Ca<sup>2+</sup> sensitivity and sudden death in a proportion (up to 40%) of young (28-40 day old) animals. 28887330 2017
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease BEFREE De novo mutations in ACTC were identified in two patients with sporadic HCM who presented with syncope in early childhood. 10966831 2000
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease CLINVAR Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. 21839045 2012
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy. 22643837 2012
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		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
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Gene mutations in apical hypertrophic cardiomyopathy. 16267253 2005
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 CausalMutation disease CLINVAR Gene mutations in apical hypertrophic cardiomyopathy. 16267253 2005
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 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
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 CausalMutation disease CLINVAR Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 19799913 2010
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 CausalMutation disease CLINVAR Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 10966831 2000
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 10966831 2000
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Mechanical and energetic properties of papillary muscle from ACTC E99K transgenic mouse models of hypertrophic cardiomyopathy. 23604709 2013
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Minigenes encoding N-terminal domains of human cardiac myosin light chain-1 improve heart function of transgenic rats. 16675844 2006
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease LHGDN Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 17611253 2007
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		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
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 Biomarker disease CLINGEN Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 17611253 2007
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 CausalMutation disease CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004 2008