Gene: TNNT2 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 24992688 2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group 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 		0.630 CausalMutation group CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. 11862580 2002
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins. 20079745 2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601 2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601 2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328 2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group 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 		0.630 CausalMutation group 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 		0.630 GeneticVariation group 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 		0.630 CausalMutation group 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 		0.630 GeneticVariation group 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 		0.630 CausalMutation group CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 GeneticVariation group CLINVAR Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy. 29367539 2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.630 CausalMutation group CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718 2000