Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. 15769782

2005

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Mutations profile in Chinese patients with hypertrophic cardiomyopathy. 15563892

2005

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin. 15568820

2004

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 GeneticVariation CLINVAR Inherited cardiomyopathies as a troponin disease. 15631686

2004

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Autopsy findings in siblings with hypertrophic cardiomyopathy caused by Arg92Trp mutation in the cardiac troponin T gene showing dilated cardiomyopathy-like features. 14640471

2003

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 CausalMutation CLINVAR Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. 11968089

2002

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.800 GeneticVariation CLINVAR "Prevalence and severity of ""benign"" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy." 12473556

2002