rs397516349, TNNI3

N. diseases: 6
Source: CLINVAR ×
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 Genetics of hypertrophic cardiomyopathy in Norway. 24111713 2014
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132 2014
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Inherited cardiomyopathies caused by troponin mutations. 23610579 2013
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations. 20641121 2010
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 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
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 GeneticVariation CLINVAR Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 11735257 2001
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 GeneticVariation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
Cardiomyopathy, Hypertrophic, Familial
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
0.700 CausalMutation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.700 GeneticVariation CLINVAR Orthotic services: a need for change. 3144325 1988
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CUI: C1860752
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.700 CausalMutation CLINVAR
Cardiomyopathy, Dilated, 1FF
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
0.700 CausalMutation CLINVAR
CARDIOMYOPATHY, DILATED, 2A (disorder)
CUI: C2678474
Disease: CARDIOMYOPATHY, DILATED, 2A (disorder)
0.700 CausalMutation CLINVAR
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.700 CausalMutation CLINVAR