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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. 22517884

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322

2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins. 20079745

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy. 20978592

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601

2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601

2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy. 18612386

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation 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
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 CausalMutation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.630 GeneticVariation CLINVAR Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. 15464434

2005