TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Restrictive cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy]. 23906401 2013
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. 20161772 2010
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050 2009
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. 19449150 2009
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. 18408133 2008
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. 17463320 2007
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415 2006
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice. 17027633 2006
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		0.710 GeneticVariation BEFREE To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398 2005
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398 2005
dbSNP: rs104894729
rs104894729
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.710 CausalMutation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876 2003
dbSNP: rs727503499
rs727503499
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		A 0.700 CausalMutation 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
dbSNP: rs727503499
rs727503499
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		A 0.700 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588 2010
dbSNP: rs727503503
rs727503503
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		A 0.700 GeneticVariation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009
dbSNP: rs727503503
rs727503503
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.700 CausalMutation CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605 2007
dbSNP: rs730880231
rs730880231
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		0.020 GeneticVariation 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
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		0.020 GeneticVariation BEFREE Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143 2009
dbSNP: rs770640091
rs770640091
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		0.010 GeneticVariation BEFREE We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). 27604170 2016