Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 The aim of this study was to retrospectively evaluate the relationship between CYP2C19 polymorphisms and the efficacy of low-dose, add-on CLB therapy in Japanese patients with epilepsy. 25323806 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Effects of CYP2C19 and P450 oxidoreductase polymorphisms on the population pharmacokinetics of clobazam and N-desmethylclobazam in japanese patients with epilepsy. 24345815 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 Biomarker 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 In this study we aimed to investigate the relationship between the genetic polymorphism of cytochrome P450 genes, namely CYP2C9 and CYP2C19 with multiple drug resistance in epilepsy patients. 21985811 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 GeneticVariation disease BEFREE A total of 221 pediatric or adolescent Caucasian patients with epilepsy (105 females; age: 14.5+/-6.54 years) were genotyped for nine putatively functionally relevant ABCB1, ABCC2, CYP2C8, CYP2C9, and CYP2C19 polymorphisms. 19415824 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE A nonlinear mixed-effect modeling (NONMEM) program was used to evaluate the effects of cytochrome P450 (CYP) 2C9 and CYP2C19 polymorphisms on the phenobarbital (PB) population clearance for Japanese epileptics. 17304159 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE The aim of this study was to clarify the effect of genetic polymorphisms of CYP2C19 on the pharmacokinetics of phenobarbitone (PB) using a nonlinear mixed-effects model (NONMEM) analysis in Japanese adults with epilepsy. 10805060 2000
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE The genotype of CYP2C9 (Arg144/Cys, Ile359/Leu) and CYP2C19(*1, *2 or *3) in 134 Japanese adult patients with epilepsy treated with PHT were determined, and their serum concentrations of 5-(4-hydroxyphenyl)-5-phenylhydantoin (p-HPPH) enantiomers, being major metabolites of PHT, were measured. 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