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 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 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 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 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 Biomarker disease BEFREE Our results indicate that defects in the ACTC gene do not explain dilated cardiomyopathy or hypertrophic cardiomyopathy in subjects from Eastern Finland and confirm earlier results that the ACTC gene does not play an important role in the genetics of dilated or hypertrophic cardiomyopathies. 12075240 2002
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 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 CausalMutation disease CLINVAR Gene mutations in apical hypertrophic cardiomyopathy. 16267253 2005
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 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
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 Biomarker disease CLINGEN We generated a transgenic mouse model expressing the apical hypertrophic cardiomyopathy-causing mutation ACTC E99K at 50% of total heart actin and compared it with actin from patients carrying the same mutation. 21622575 2011
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 CausalMutation disease CLINVAR We generated a transgenic mouse model expressing the apical hypertrophic cardiomyopathy-causing mutation ACTC E99K at 50% of total heart actin and compared it with actin from patients carrying the same mutation. 21622575 2011
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease CLINVAR Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. 22563033 2012
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 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 GeneticVariation disease BEFREE We examined the biochemical and cell biological properties of the α-cardiac actin mutations Y166C and M305L identified in hypertrophic cardiomyopathy (HCM). 22643837 2012
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 Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014