Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker CLINGEN Gene mutations in apical hypertrophic cardiomyopathy. 16267253

2005

Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker CLINGEN Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 10966831

2000

Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 Biomarker CLINGEN Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. 10330430

1999