Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Different functional properties of troponin T mutants that cause dilated cardiomyopathy. 12923187

2003
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. 15623536

2005
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322

2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. 9140840

1997
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement. 19487599

2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. 19087273

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Sudden death due to troponin T mutations. 9060892

1997
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. 22517884

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR The chromosome, its anatomy, and its aberrations. 2003160

1991
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 26656454

2015
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 23383212

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. 8951566

1996
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins. 20079745

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. 10617660

2000
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624

2012
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects. 19324435

2010