Source: ALL

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 Biomarker GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346

2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708

2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851

2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 26507537

2016
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 26498512

2015
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 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
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 24992688

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
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 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 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 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 23663841

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 23494605

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 GeneticVariation CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		0.900 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082

2013