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 CausalMutation disease CLINVAR Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944 2000
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 CausalMutation disease CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718 2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. 11606294 2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Characterization of the two eIF4A-binding sites on human eIF4G-1. 11060291 2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629 2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T. 11158969 2001
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy. 11113119 2001
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 Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. 12186860 2002
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 GeneticVariation disease 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 		0.900 CausalMutation disease CLINVAR Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. 14654368 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease CLINVAR 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 CausalMutation disease CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. 14636924 2003
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 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 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 CausalMutation disease CLINVAR Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction. 14722098 2004
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288 2004
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice. 16326803 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 CausalMutation disease CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.900 GeneticVariation disease UNIPROT Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892 2005