rs727503504, TNNI3

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies. 26440512 2015
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Calcium-regulated conformational change in the C-terminal end segment of troponin I and its binding to tropomyosin. 21777381 2011
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR The C terminus of cardiac troponin I stabilizes the Ca2+-activated state of tropomyosin on actin filaments. 20035081 2010
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009
Restrictive cardiomyopathy
CUI: C0007196
Disease: Restrictive cardiomyopathy
0.700 GeneticVariation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618 2009
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.700 GeneticVariation CLINVAR
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.700 GeneticVariation CLINVAR
Cardiomyopathy, Dilated, 1FF
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
0.700 GeneticVariation CLINVAR
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 CausalMutation CLINVAR