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 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
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 GeneticVariation disease 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 		0.900 GeneticVariation disease UNIPROT Sudden death due to troponin T mutations. 9060892 1997
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. 9140840 1997
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT 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 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944 2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy. 9482583 1998
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521 1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
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 Biomarker disease MGD
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 Biomarker disease CTD_human
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