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 Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation 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
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation 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
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation 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
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation 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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations. 21683708

2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation 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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Defective dynamic properties of human cardiac troponin mutations. 20057144

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation CLINVAR Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. 20439259

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation CLINVAR Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies. 20159828

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 CausalMutation CLINVAR Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. 20439259

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		0.900 GeneticVariation CLINVAR Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. 20031601

2009