Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE ABCB1 genotyping for epileptic patients is not warranted. 20491876 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE CYP2C9, CYP2C19, ABCB1 genetic polymorphisms and phenytoin plasma concentrations in Mexican-Mestizo patients with epilepsy. 26122019 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE C3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother's Memorial Hospital in Lodz. 27391700 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Conflicting reports suggest a possible association between variants of the MDR1 gene and medical intractability in epilepsy. 15679503 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE We included all published studies until September 2007, in which patients with responsive and unresponsive seizure disorders underwent genotyping for ABCB1 C3435T. 19178561 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE We aimed to determine the effect of the ABCB1 gene on epilepsy drug response, using a unique large cohort of epilepsy patients with prospectively measured seizure and drug response outcomes. 16857572 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE ATP-binding cassette sub-family B member 1 (ABCB1) is a membrane-associated protein that acts as an efflux transporter for many substrates, including chemotherapeutic agents, anti-epilepsy medicine, antibiotics and drugs for PD. 24572589 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE In conclusion, our finding disproves a general association between ABCB1 polymorphisms and drug response in epilepsy patients. 20417680 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. 23984379 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE We studied the association between C3435T and G2677T/A ABCB1 gene polymorphisms and drug resistance in Iranian epilepsy patients. 21636342 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Significance of MDR1 gene polymorphism C3435T in predicting drug response in epilepsy. 24300029 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The association between the non-synonymous polymorphism G2677T/A in the coding region of the ABCB1 gene, and the risk of resistance to anti-epileptic drugs (AEDs) in epilepsy remains controversial. 26220385 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE ABCB1 3435 was genotyped in 315 patients with epilepsy, classified as drug-resistant in 200 and drug-responsive in 115, and 200 control subjects without epilepsy. 12686700 2003
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: data from international pharmacogenetic cohorts. 19453704 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The analysis showed that there were significantly more cases with the MDR1 3435 CC genotype in the group with drug-resistant epilepsy than in the group with drug-responsive epilepsy [odds ratio (OR)=1.50, 95% confidence interval (CI)=1.09-2.06, P=0.01]. 24953225 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE ABCB1 gene C3435T polymorphism and drug resistance in epilepsy: evidence based on 8,604 subjects. 25799371 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 Biomarker disease BEFREE This study aimed to assess whether [<sup>11</sup>C]flumazenil is a P-glycoprotein substrate in humans and to what extent increased P-glycoprotein function in epilepsy may confound interpretation of clinical [<sup>11</sup>C]flumazenil studies used to assess gamma-aminobutyric acid A receptors. 26661244 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 AlteredExpression disease BEFREE The P-gp encoded by the ABCB1 and ABCC2 genes are expressed in drug resistant patients with epilepsy. 23717663 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Previous studies reported the associations between the ATP-binding cassette sub-family B member 1 (ABCB1, also known as MDR1) polymorphisms and their haplotypes with risk of response to antiepileptic drugs in epilepsy, however, the results were inconclusive. 25816099 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 AlteredExpression disease BEFREE Further, for NF-κB p65, MDR1, P-gp and apoptosis-associated protein levels detection, miR-542-3p mimic showed a suppressive effect on these KA-induced protein levels, whereas TLR4 overexpression ameliorated the miR-542-3p-induced these protein levels in KA-treated epilepsy rats. 31702493 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE Here, we performed the first haplotype meta-analysis to examine the association of haplotypes of ABCB1 common variants with the response to treatment in epilepsy. 21391884 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE rs776746 and rs15524 in the CYP3A5 gene tend to affect CBZ metabolism, and rs2032582, rs10234411 in the ABCB1 gene may contribute to inter-individual variation in CBZ and in CBZ-E transport among patients with epilepsy using CBZ in combination with PHT or PB. 26421491 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 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
0.600 Biomarker disease BEFREE Selective inhibitors of the major efflux transporter P-glycoprotein are currently in clinical trials for reversing chemotherapy resistance in oncology and may soon be used to determine whether such inhibitors can prevent or reverse drug resistance in epilepsy. 16120487 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.600 GeneticVariation disease BEFREE The genetic polymorphism of ABCB1 rs1045642 was found to be associated with normalized OXC concentration and therapeutic efficacy in patients with epilepsy (P<0.05). 28837897 2017