Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 Biomarker disease BEFREE We focus on gene mutations in cardiac myosin binding protein-C, β-cardiac myosin heavy chain, cardiac troponin I, and cardiac troponin T, that comprise the majority of all HCM sarcomeric gene mutations. 30885674 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 Biomarker disease BEFREE The combined measurements of serum apelin and MWT, as well as cTNI and MWT, showed higher predictive values for predicting myocardial fibrosis in patients with HCM. 31019180 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 Biomarker disease BEFREE We sought to explore the associations between the presence of AF and circulating biomarkers reflecting cardiovascular function (N-terminal pro-brain natriuretic peptide, NT-pro BNP), endothelial function (big endothelin-1, big ET-1), inflammation (high-sensitivity C-reactive protein), and myocardial damage (cardiac troponin I, cTnI) in HCM patients with and without left ventricular outflow tract obstruction (LVOTO).In all, 375 consecutive HCM in-hospital patients were divided into an AF group (n = 90) and a sinus rhythm (SR) group (n = 285) according to their medical history and electrocardiogram results.In comparison with the SR group, peripheral concentrations of big ET-1, NT-pro BNP, and cTnI were significantly higher in patients with AF. 30626765 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 Biomarker disease BEFREE A high proportion of stable hypertrophic cardiomyopathy (HCM) patients have elevated serum cardiac troponin I (cTnI), but its clinical and echocardiographic determinants are unknown. 28849602 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 Biomarker disease CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. 28382084 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153 2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 CausalMutation disease CLINVAR Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. 25940119 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 CausalMutation disease CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE The Ala161Asp mutation in TNNI3 was implicated in the pathogenesis of her HCM, though an association between HCM and SCA was not revealed. 27385602 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE Our findings showed that a double heterozygous mutation in the TNNI3 gene is involved in the pathogenesis of HCM via haploinsufficiency. 26506446 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 CausalMutation disease CLINVAR Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres. 27557662 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE In summary, cTnI(P83S) has similar effects as other HCM-associated cTnI mutations on troponin and myofibril function even though it is in the I-T arm of cTnI. 27150586 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease CLINVAR Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. 25940119 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE We hypothesised that mutations in TNNI3 could underlie this particular phenotype, and we therefore screened TNNI3 for mutations in 115 HCM probands. 25940119 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease CLINVAR Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. 27600940 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 CausalMutation disease CLINVAR Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population. 26169204 2016
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 PosttranslationalModification disease BEFREE Dilated and hypertrophic cardiomyopathy mutations in troponin can blunt effects of protein kinase A (PKA) phosphorylation of cardiac troponin I (cTnI), decreasing myofilament Ca2+-sensitivity; however this effect has never been tested for restrictive cardiomyopathy (RCM) mutants. 25450489 2015
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE Thirty-eight HCM index patients (mean age 60±16 years) underwent systematic mutation screening of eight sarcomeric genes: β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), troponin T (TNNT2), troponin I (TNNI3), myosin ventricular regulatory light chain 2 (MYL2), myosin ventricular essential light chain 1 (MYL3), α-tropomyosin (TPM1), and cardiac α-actin (ACTC), using direct DNA sequencing. 25086479 2015
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE Herein, we set out to functionally characterize a novel HCM-associated mutation (K206I-TNNI3) and elucidate the mechanism of dysfunction at the level of myofilament proteins. 26553696 2015
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.700 GeneticVariation disease BEFREE We investigated the effect of the hypertrophic cardiomyopathy-linked R21C (arginine to cysteine) mutation in human cardiac troponin I (cTnI) on the contractile properties and myofilament protein phosphorylation in papillary muscle preparations from left (LV) and right (RV) ventricles of homozygous R21C(+/+) knock-in mice. 25961037 2015