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 GeneticVariation disease BEFREE This study aimed to explore novel genotype-phenotype correlations in HCM patients with the variants in ACTC1 and myosin-binding protein (MYBPC3) genes in three unrelated Chinese families. 30600190 2019
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 GeneticVariation disease BEFREE We found no consistent changes in the duty ratio of the ACTC variants, suggesting that other factors are involved in the development of HCM when ACTC variants are present. 28972856 2018
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease BEFREE To gain mechanistic insight and guide pharmacological rescue, this study models HCM using isogenic pairs of human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) carrying the E99K-ACTC1 cardiac actin mutation. 30392975 2018
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease BEFREE Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. 29440008 2018
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 Biomarker disease CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.700 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
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 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 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 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 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 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 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 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 Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004 2008
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 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. 16611632 2006