Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE CYP2C9 polymorphisms in epilepsy: influence on phenytoin treatment. 29636628 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 Biomarker disease BEFREE Indeed, many genes, including genes encoding drug transporters (ABCB1), drug targets (SCN1A), drug-metabolizing enzymes (CYP2C9, CYP2C19), and human leucocyte antigen (HLA) proteins, may regulate the mechanisms of drug resistance in epilepsy. 29804481 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE We aimed to explore the possible influence of CYP2C9 (*2, *3 and IVS8-109 A>T), CYP2C19 (*2, *3 and *17) and ABCB1 (1236C>T, 2677G>A/T and 3435C>T) on phenytoin (PHT) plasma concentrations in 64 Mexican Mestizo (MM) patients with epilepsy currently treated with PHT in mono- (n=25) and polytherapy (n=39). 26122019 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE To evaluate the association between the presence of polymorphic alleles CYP2C9 FNx01 2 and FNx013 and phenytoin toxicity in Indian patients with epilepsy. 23287317 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Our results demonstrated the important role of the CYP2C9*3 allelic variant in preventing epilepsy patients from developing drug resistance. 24338437 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE We examined the influence of CYP2C9 polymorphisms on total cerebellar volume and cerebellar gray and white matter volumes in patients with epilepsy taking phenytoin. 23298603 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 Biomarker disease BEFREE The results indicated that about 18.3% of the patients with epilepsy were positive for CYP2C9*3. 23849849 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Neurological toxicity after phenytoin infusion in a pediatric patient with epilepsy: influence of CYP2C9, CYP2C19 and ABCB1 genetic polymorphisms. 22641027 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE In a further multivariate analysis, variants in SCN1A, CYP2C9, CYP2C19 and ABCB1 genes were significantly associated with CDRs of PHT under adjustment of age, gender and epilepsy classifications (adjusted r(2) = 20.07%). 22966884 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 Biomarker disease BEFREE The aim of this study was to determine the relationship between plasma concentrations of VPA and single nucleotide polymorphisms (SNPs) involving uridine diphosphate glucuronosyltransferase (UGT) 1A6 (UGT1A6), UGT2B7, and cytochrome P450 2C9 (CYP2C9) genes in Chinese children with epilepsy. 23099353 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Our results demonstrated significant involvement of CYP2C9 genetic variants in the modulation of epilepsy pharmacotherapy confirming the important role of CYP2C9 mutants preventing epilepsy patients from developing drug resistance. 21985811 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE The distribution of variant CYP2C9 alleles and prevalence of phenytoin adverse reactions were hereby investigated in a population of patients diagnosed with epilepsy. 21537551 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 Biomarker disease BEFREE We have investigated the association between polymorphisms related to antiepileptic drug metabolism (CYP2C9, CYP2C19, and UGT), transport (ABCB1), and targets (SCN1A) both in a crude analysis and after adjusting by clinical factors associated with drug-resistance, and stratifying by patient age or aetiology of epilepsy. 20064729 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 Biomarker disease BEFREE In the study, we analyzed the genotypes of CYP2A6, CYP2B6, and CYP2C9 and their contribution to the steady-state standardized plasma VPA concentrations in 179 subjects with epilepsy of a Northern Han Chinese population. 20089352 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Our results show that CYP2C9 genetic polymorphisms (particularly the *3 allele) were associated with high risk of epileptic patients developing PHT-induced neurological toxicity. 20390258 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE We aimed to evaluate the association of non-response to antiepileptic pharmacotherapy with the frequency of variant alleles in the drug transporter genes ABCB1 and ABCC2 or in the CYP2C locus in young patients with epilepsy and an independent cohort of adults with drug-refractory epilepsy. 19415824 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE The effects of genetic polymorphisms of CYP2C9 and CYP2C19 on phenytoin metabolism in Japanese adult patients with epilepsy: studies in stereoselective hydroxylation and population pharmacokinetics. 9860067 1998
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Genetic polymorphism of the CYP2C subfamily and its effect on the pharmacokinetics of phenytoin in Japanese patients with epilepsy. 9333104 1997
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Effect of CYP2C polymorphisms on the pharmacokinetics of phenytoin in Japanese patients with epilepsy. 8874828 1996