Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CTD_human Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy. 29686627 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CTD_human CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy. 29741611 2018
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype. 27721798 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells. 25209314 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy. 25189259 2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139 2013
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function. 23798412 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder resulting from mutations in genes for at least 15 various sarcomere-related proteins including cardiac β-myosin heavy chain, cardiac myosin-binding protein C, and cardiac troponin T. The troponin T gene (TNNT2) mutation has the third incidence of familial HCM, and the genotype-phenotype correlation of this gene still remains insufficient in Japanese familial HCM. 23494605 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CTD_human Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. 19087273 2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. 14636924 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation. 11060294 2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. 10449439 1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins. 10330428 1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T. 10405326 1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. 9637714 1998
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN A mouse model of familial hypertrophic cardiomyopathy. 8614836 1996
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912 1992
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy. 1634614 1992
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197 1992
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.800 Biomarker disease CLINGEN Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 1944483 1991
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 Biomarker disease CLINGEN Troponin T isoform expression in humans. A comparison among normal and failing adult heart, fetal heart, and adult and fetal skeletal muscle. 1934353 1991