TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker group BEFREE ENX significantly attenuated, but not completely reversed, DOX-induced cardiotoxicity through lowering cTnI and improving cardiomyopathy histopathological scores as compared to the DOX group. 29321061 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 GeneticVariation group BEFREE Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation. 28382084 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker group BEFREE The decrease in Srads was correlated with cTnI (rho = -0.736, p = 0.000) and cardiomyopathy scores (rho = -0.797, p = 0.000). 28700019 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 GeneticVariation group BEFREE We reviewed the literature in relation to phenotypic features reported to be associated with mutations in cardiac troponin I (cTnI; TNNI3), which is a recognized sarcomeric disease gene in all 3 cardiomyopathies. 26440512 2015
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker group BEFREE In this study, comprehensive screening of TNNI3 was performed in 36 consented autopsy cases diagnosed as CM, in order to evaluate the prevalence of gene mutations in sudden death caused by CM. 20817590 2010
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 PosttranslationalModification group LHGDN Modulation of cardiac troponin C function by the cardiac-specific N-terminus of troponin I: influence of PKA phosphorylation and involvement in cardiomyopathies. 18042489 2008
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker group LHGDN Autoantibodies to cardiac troponin I in patients with idiopathic dilated and ischemic cardiomyopathy. 16887211 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 GeneticVariation group BEFREE Our results provide novel evidence that modification of the cTnC-cTnI interaction has distinct effects on troponin Ca(2+)-binding and cross-bridge kinetics to suggest a novel role for thin filament mutations in the modulation of myofilament function through beta-adrenergic signaling as well as the development of cardiomyopathy. 17446435 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker group CTD_human In vitro and in vivo examination of cardiac troponins as biochemical markers of drug-induced cardiotoxicity. 17587482 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 GeneticVariation group BEFREE Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415 2006
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 CausalMutation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 GeneticVariation group CLINVAR