Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 Biomarker disease GENOMICS_ENGLAND Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601 2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601 2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 26507537 2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. 8989109 1996
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. 22334656 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy. 10978365 2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Defective dynamic properties of human cardiac troponin mutations. 20057144 2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. 18349139 2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326 2007
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects. 19324435 2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294 2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. 20439259 2010