Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype. 27721798

2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells. 25209314

2014
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. 15856146

2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN Functional consequences of a carboxyl terminal missense mutation Arg278Cys in human cardiac troponin T. 10405326

1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN A mouse model of familial hypertrophic cardiomyopathy. 8614836

1996
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. 1552912

1992
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. 1944483

1991
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker 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
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. 2144212

1990
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 Biomarker CLINGEN A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. 1975517

1990
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