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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. 21245263

2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. 21245263

2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy. 21185001

2011
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation 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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function? 19914256

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. 20414521

2010
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Use of genetics in the clinical evaluation of cardiomyopathy. 19996403

2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. 20031602

2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 18651846

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. 18809796

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 GeneticVariation CLINVAR Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 18258667

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.800 CausalMutation CLINVAR [Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene]. 17456375

2007