Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres. 27557662

2016
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Genetics of hypertrophic cardiomyopathy in Norway. 24111713

2014
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 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: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. 19289050

2009
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143

2009
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants. 18423659

2008
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415

2006
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876

2003
dbSNP: rs104894724
rs104894724
TNNI3
0.730 GeneticVariation BEFREE The near N-terminal region (cRp; residues 34-71) contains the protein kinase C (PKC) phosphorylation sites S41 and S43, the inhibitory region (cIp; residues 128-147) contains another PKC site T142 and a familial hypertrophic cardiomyopathy (FHC) mutation R144G, and the switch region (cSp; residues 147-163) contains the novel p21-activated kinase (PAK) site S149 and another FHC mutation R161W. 14661957

2003
dbSNP: rs104894724
rs104894724
TNNI3
0.730 GeneticVariation BEFREE We investigated the effects of two mutations in human cardiac troponin I, Arg(145)-->Gly and Gly(203)-->Ser, that are reported to cause familial hypertrophic cardiomyopathy. 11853553

2002
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI. 11735257

2001
dbSNP: rs104894724
rs104894724
TNNI3
0.730 GeneticVariation BEFREE We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recombinant cTnI. 10806205

2000
dbSNP: rs104894724
rs104894724
TNNI3
A 0.730 CausalMutation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277

1997