TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 CausalMutation group CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 CausalMutation group CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 Biomarker group BEFREE Employing LC-MS/MS, we determined the presence of phosphorylation sites at S5/S6 in cTnI from wild type mouse hearts as well as in hearts of mice chronically expressing active protein kinase C-ε (PKCε) and exhibiting severe dilated cardiomyopathy (DCM). 22940544 2013
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 CausalMutation group CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 GeneticVariation group CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770 2012
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 Biomarker group BEFREE We used mutation analysis suitable for identification of both dominant and recessive mutations to investigate the sarcomeric gene for cardiac troponin I (TNNI3) in 235 patients with dilated cardiomyopathy. 15070570 2004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 Biomarker group CTD_human Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. 15070570 2004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 Biomarker group BEFREE Autoantibodies against cardiac troponin I are responsible for dilated cardiomyopathy in PD-1-deficient mice. 14595408 2003
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.430 Biomarker group HPO