Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR The changes of the cardiac structure and function in cTnTR141W transgenic mice. 18606313

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851

2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 26498512

2015
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR [Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene]. 17456375

2007
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 18651846

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708

2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies. 20159828

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912

2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368

2003