TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation disease CLINVAR High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 22876777 2012
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation disease UNIPROT Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 21846512 2012
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation disease CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. 21533915 2011
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation disease UNIPROT Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 19590045 2009
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation disease CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845 2005
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation disease CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 GeneticVariation disease CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912 2003
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
CARDIOMYOPATHY, DILATED, 2A (disorder) 		0.700 Biomarker disease CTD_human