TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Restrictive cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease BEFREE Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. 28382084 2017
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease BEFREE These perturbed biophysical and biochemical myofilament properties are likely to significantly contribute to the diastolic cardiac pump dysfunction that is seen in patients suffering from a restrictive cardiomyopathy that is associated with the cTnI R145W mutation. 27557662 2016
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 Biomarker disease BEFREE Dilated and hypertrophic cardiomyopathy mutations in troponin can blunt effects of protein kinase A (PKA) phosphorylation of cardiac troponin I (cTnI), decreasing myofilament Ca2+-sensitivity; however this effect has never been tested for restrictive cardiomyopathy (RCM) mutants. 25450489 2015
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease BEFREE In this review, we highlight the use of acute genetic engineering of adult cardiac myocytes through stoichiometric replacement of sarcomeric proteins in these disease states with particular focus on cardiac troponin I. Stoichiometric replacement of disease causing mutations has been instrumental in defining the molecular mechanisms of hypertrophic and restrictive cardiomyopathy in a cellular context. 25125179 2014
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy]. 23906401 2013
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR 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: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. 20161772 2010
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588 2010
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease BEFREE Several cardiac troponin I (cTnI) mutations are associated with restrictive cardiomyopathy (RCM) in humans. 20580639 2010
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. 19449150 2009
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050 2009
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease BEFREE Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143 2009
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 Biomarker disease BEFREE In contrast, mutations in only desmin and cardiac troponin T and I (TNNI3) have been shown to cause restrictive cardiomyopathy (RCM). 18006163 2009
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. 18408133 2008
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease LHGDN A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin. 18032382 2008
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. 17463320 2007
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605 2007
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice. 17027633 2006
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 GeneticVariation disease BEFREE Cardiac troponin I (cTnI) mutations have been linked to the development of restrictive cardiomyopathy (RCM) in human patients. 17027633 2006
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415 2006
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 CausalMutation disease CLINVAR Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. 15961398 2005
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 AlteredExpression disease LHGDN Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. 15961398 2005