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 GeneticVariation disease CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994
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 GeneticVariation disease CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease CLINVAR Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944 2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 Biomarker disease CTD_human
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 Biomarker disease MGD
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 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR The changes of the cardiac structure and function in cTnTR141W transgenic mice. 18606313 2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T. 10731693 2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. 7898523 1995
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 CausalMutation disease 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 		0.900 CausalMutation disease CLINVAR [Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene]. 17456375 2007
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 18651846 2008
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 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