rs397516470, TNNT2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 CausalMutation CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851 2016
Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851 2016
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851 2016
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 CausalMutation CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310 2014
Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744 2014
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744 2014
Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310 2014
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624 2012
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945 2012
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624 2012
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547 2012
Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945 2012
Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624 2012
Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547 2012
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945 2012
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 CausalMutation CLINVAR Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 22144547 2012
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 22579624 2012
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503 2011
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503 2011
Cardiomyopathy, Familial Hypertrophic, 2
0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503 2011
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy--molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients. 16538283 2006
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany. 14636924 2003