TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease CLINVAR Orthotic services: a need for change. 3144325 1988
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker disease CLINGEN Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation disease CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation disease CLINVAR Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils. 10731705 2000
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease BEFREE Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation disease CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker disease CLINGEN Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy. 11055985 2000
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation disease CLINVAR Effects of phosphorylation and mutation R145G on human cardiac troponin I function. 11724573 2001
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease CLINVAR Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 11735257 2001
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation disease CLINVAR Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. 11801593 2002
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease CLINVAR Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426 2002
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease BEFREE These results suggest that the first phenotypic manifestation in patients with HCM associated with a K183del mutation in the cTnI gene is abnormal Q waves in leads II, III, aVF, V5, and V6 during the early teenage years. 11835033 2002
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 CausalMutation disease CLINVAR Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility. 11853553 2002
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease LHGDN Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility. 11853553 2002
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 GeneticVariation disease BEFREE Lysine 183 deletion in the cardiac troponin I gene is 1 of the mutations that causes hypertrophic cardiomyopathy (HCM). 11923807 2002
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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