×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.
22334656 2012
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
16115294 2005
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
17932326 2007
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
15923195 2005
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
GeneticVariation
CLINVAR
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
11606294 2001
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.
19880069 2009
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
[Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].
19150014 2009
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
24367593 2013
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
GeneticVariation
CLINVAR
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
18533079 2008
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Mutations in sarcomere protein genes in left ventricular noncompaction.
18506004 2008
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
22675533 2012
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants.
10529204 1999
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
15623536 2005
×
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
Hypertrophic Cardiomyopathy
0.800
CausalMutation
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
Hypertrophic Cardiomyopathy
0.800
CausalMutation
CLINVAR
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
15769782 2005