Gene: TNNT2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. 18029407 2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy--molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients. 16538283 2006
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004 2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression. 17612745 2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 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 		0.800 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 		0.800 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 		0.800 CausalMutation disease CLINVAR Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. 10529204 1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 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 		0.800 CausalMutation 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 		0.800 CausalMutation disease CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700 2015
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 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 		0.800 CausalMutation disease CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782 2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. 12746413 2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838 2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. 12084606 2002
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 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 		0.800 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder resulting from mutations in genes for at least 15 various sarcomere-related proteins including cardiac β-myosin heavy chain, cardiac myosin-binding protein C, and cardiac troponin T. The troponin T gene (TNNT2) mutation has the third incidence of familial HCM, and the genotype-phenotype correlation of this gene still remains insufficient in Japanese familial HCM. 23494605 2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296 1999
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T. 10731693 2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2 		0.800 CausalMutation disease CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503 2011