Gene: TNNI3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy]. 23906401

2013
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
dbSNP: rs104894729
rs104894729
TNNI3
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
TNNI3
T 0.710 CausalMutation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050

2009
dbSNP: rs104894729
rs104894729
TNNI3
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
TNNI3
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
TNNI3
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
TNNI3
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
TNNI3
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
TNNI3
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
TNNI3
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
TNNI3
T 0.710 CausalMutation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876

2003
dbSNP: rs727503499
rs727503499
TNNI3
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
TNNI3
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
TNNI3
T 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs727503504
rs727503504
TNNI3
A 0.700 GeneticVariation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009
dbSNP: rs727503503
rs727503503
TNNI3
T 0.700 CausalMutation CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605

2007
dbSNP: rs730880231
rs730880231
TNNI3
G 0.700 CausalMutation CLINVAR

dbSNP: rs104894724
rs104894724
TNNI3
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
TNNI3
0.020 GeneticVariation BEFREE Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143

2009
dbSNP: rs770640091
rs770640091
TNNI3
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