CES1, carboxylesterase 1, 1066

N. diseases: 80; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2244614
rs2244614
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0025303
Disease:
Meningococcal Infections
0.700 GeneticVariation GWASDB Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. 20694013 2010
dbSNP: rs121912777
rs121912777
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C4748035
Disease:
DRUG METABOLISM, ALTERED, CES1-RELATED
T 0.700 CausalMutation CLINVAR
dbSNP: rs778068631
rs778068631
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C4748035
Disease:
DRUG METABOLISM, ALTERED, CES1-RELATED
C 0.700 CausalMutation CLINVAR
dbSNP: rs2244613
rs2244613
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE In a cohort of patients who had atrial fibrillation and on anticoagulant prophylaxis with dabigatran etexilate, we investigated whether genotypes at rs4148738 (ABCB1), rs8192935 (CES1), and rs2244613 (CES1) loci would affect plasma dabigatran trough and peak concentrations. 27261537 2016
dbSNP: rs8192935
rs8192935
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE In a cohort of patients who had atrial fibrillation and on anticoagulant prophylaxis with dabigatran etexilate, we investigated whether genotypes at rs4148738 (ABCB1), rs8192935 (CES1), and rs2244613 (CES1) loci would affect plasma dabigatran trough and peak concentrations. 27261537 2016
dbSNP: rs2244613
rs2244613
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0011991
Disease:
Diarrhea
0.010 GeneticVariation BEFREE Reduced risk of neutropenia and diarrhoea was associated with ABCC2-24C/T (odds ratio (OR)=0.22, 0.06-0.85) and CES1 (rs2244613; OR=0.29, 0.09-0.89), respectively. 25611302 2015
dbSNP: rs2244613
rs2244613
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE Reduced risk of neutropenia and diarrhoea was associated with ABCC2-24C/T (odds ratio (OR)=0.22, 0.06-0.85) and CES1 (rs2244613; OR=0.29, 0.09-0.89), respectively. 25611302 2015
dbSNP: rs2244613
rs2244613
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE Reduced risk of neutropenia and diarrhoea was associated with ABCC2-24C/T (odds ratio (OR)=0.22, 0.06-0.85) and CES1 (rs2244613; OR=0.29, 0.09-0.89), respectively. 25611302 2015
dbSNP: rs121912777
rs121912777
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE We genotyped a functional variant in CES1, G143E, in participants of the Pharmacogenomics of Anti-Platelet Intervention (PAPI) study (n=566) and in 350 patients with coronary heart disease treated with clopidogrel, and carried out an association analysis of bioactive metabolite levels, on-clopidogrel ADP-stimulated platelet aggregation, and cardiovascular outcomes. 23111421 2013
dbSNP: rs121912777
rs121912777
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE We genotyped a functional variant in CES1, G143E, in participants of the Pharmacogenomics of Anti-Platelet Intervention (PAPI) study (n=566) and in 350 patients with coronary heart disease treated with clopidogrel, and carried out an association analysis of bioactive metabolite levels, on-clopidogrel ADP-stimulated platelet aggregation, and cardiovascular outcomes. 23111421 2013
dbSNP: rs121912777
rs121912777
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE We genotyped a functional variant in CES1, G143E, in participants of the Pharmacogenomics of Anti-Platelet Intervention (PAPI) study (n=566) and in 350 patients with coronary heart disease treated with clopidogrel, and carried out an association analysis of bioactive metabolite levels, on-clopidogrel ADP-stimulated platelet aggregation, and cardiovascular outcomes. 23111421 2013
dbSNP: rs71647871
rs71647871
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE We genotyped a functional variant in CES1, G143E, in participants of the Pharmacogenomics of Anti-Platelet Intervention (PAPI) study (n=566) and in 350 patients with coronary heart disease treated with clopidogrel, and carried out an association analysis of bioactive metabolite levels, on-clopidogrel ADP-stimulated platelet aggregation, and cardiovascular outcomes. 23111421 2013
dbSNP: rs71647871
rs71647871
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE We genotyped a functional variant in CES1, G143E, in participants of the Pharmacogenomics of Anti-Platelet Intervention (PAPI) study (n=566) and in 350 patients with coronary heart disease treated with clopidogrel, and carried out an association analysis of bioactive metabolite levels, on-clopidogrel ADP-stimulated platelet aggregation, and cardiovascular outcomes. 23111421 2013
dbSNP: rs71647871
rs71647871
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE We genotyped a functional variant in CES1, G143E, in participants of the Pharmacogenomics of Anti-Platelet Intervention (PAPI) study (n=566) and in 350 patients with coronary heart disease treated with clopidogrel, and carried out an association analysis of bioactive metabolite levels, on-clopidogrel ADP-stimulated platelet aggregation, and cardiovascular outcomes. 23111421 2013
dbSNP: rs121912777
rs121912777
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE Here we present an association analysis of the CES1 Gly143Glu functional polymorphism in a Hungarian ADHD group (n = 173). 19733552 2009
dbSNP: rs71647871
rs71647871
Entrez Id: 1066
Gene Symbol: CES1
CES1
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE Here we present an association analysis of the CES1 Gly143Glu functional polymorphism in a Hungarian ADHD group (n = 173). 19733552 2009