Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR The chromosome, its anatomy, and its aberrations. 2003160

1991
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619

1994
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523

1995
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. 8951566

1996
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. 9201030

1997
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation CLINVAR Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. 9140840

1997
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Sudden death due to troponin T mutations. 9060892

1997
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. 9788962

1998
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR 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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. 10085122

1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T. 10731693

2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944

2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. 10617660

2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy. 10978365

2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Characterization of the two eIF4A-binding sites on human eIF4G-1. 11060291

2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy. 11113119

2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T. 11158969

2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294

2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. 12186860

2002
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. 11773635

2002
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739

2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912

2003