Gene: TNNI3 ×
Source: ALL
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 GENOMICS_ENGLAND
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease CLINVAR Orthotic services: a need for change. 3144325 1988
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 Biomarker disease CLINGEN Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease BEFREE Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene. 9241277 1997
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 CausalMutation disease CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 Biomarker disease BEFREE A large number of mutations in genes coding for the beta-myosin heavy chain (beta-MyHC), cardiac troponin T (cTnT), cardiac troponin I, alpha-tropomyosin, myosin binding protein C (MyBP-C), and myosin light chain 1 and 2 in patients with HCM have been identified. 9475582 1998
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease BEFREE The results of the present study indicate that defects in the cardiac troponin I gene do not cause hypertrophic cardiomyopathy in patients from Eastern Finland. 10591029 1999
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease BEFREE The Lys183 del mutation in the cTnI gene in patients with HCM is associated with variable clinical features and outcomes. 10931807 2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease BEFREE In conclusion, we describe a non-Japanese family in which hypertrophic cardiomyopathy is due to a genetic defect in the cardiac troponin I gene. 10731450 2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 Biomarker disease CLINGEN Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy. 11055985 2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 CausalMutation disease CLINVAR Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils. 10731705 2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease BEFREE Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 CausalMutation disease CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 CausalMutation disease CLINVAR Effects of phosphorylation and mutation R145G on human cardiac troponin I function. 11724573 2001
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease CLINVAR Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 11735257 2001
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 CausalMutation disease CLINVAR Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility. 11853553 2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 CausalMutation disease CLINVAR Effects of T142 phosphorylation and mutation R145G on the interaction of the inhibitory region of human cardiac troponin I with the C-domain of human cardiac troponin C. 12044157 2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease CLINVAR Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426 2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 Biomarker disease CLINGEN The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mutant cardiac troponin I (cTnIR145G; R146G in rodents) has been postulated to be an underlying cause of hypertrophic growth and premature sudden death in humans and in animal models of the disease. 12242271 2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease BEFREE The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mutant cardiac troponin I (cTnIR145G; R146G in rodents) has been postulated to be an underlying cause of hypertrophic growth and premature sudden death in humans and in animal models of the disease. 12242271 2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease LHGDN Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility. 11853553 2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 GeneticVariation disease BEFREE These results suggest that Tpe rather than QT dispersion may be one of the best predictors for SCD/VT in patients with HCM associated with the K183del mutation in the cTnI gene. 12109867 2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3 		0.700 CausalMutation disease CLINVAR Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. 11801593 2002