TBC1D9, TBC1 domain family member 9, 23158

N. diseases: 491; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 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
0.100 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
0.100 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
0.100 GeneticVariation disease BEFREE These findings rule out the MDR1 c.3435C>T polymorphism having a major role or increasing the risk of drug-resistance suggesting a revision is required to determine the contribution of this polymorphism in predicting drug response in epilepsy. 25458099 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE All the case-control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified. 24553780 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Our study does not support any significant association between the MDR1 polymorphism and drug-resistant childhood epilepsy. 23465586 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE The aim of our study was to investigate the relationship between C3435T polymorphism of the MDR1 gene and drug resistance in epilepsy with the consideration of 4 different criteria for qualification to groups sensitive and resistant to applied pharmacotherapy. 25223475 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE To clarify the exact clinical implication of the MDR1 polymorphisms on the multidrug resistance in epilepsy, further investigations in various ethnic populations would be necessary. 24213830 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 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
0.100 GeneticVariation disease BEFREE Significance of MDR1 gene polymorphism C3435T in predicting drug response in epilepsy. 24300029 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 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
0.100 GeneticVariation disease BEFREE In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. 20448249 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Our aim was to investigate the effect of the 1236C>T(rs1128503), 2677G>T/A(rs2032582), and 3435C>T(rs1045642) single-nucleotide polymorphisms of ABCB1 (or MDR1) on drug resistance in north Indian patients with epilepsy. 18812236 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey. 17917461 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Lack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy. 16542858 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 GeneticVariation disease BEFREE Three SNPs at nucleotide position 1236 in exon 12, 2677 in exon 21 and 3435 in exon 26 of the MDR1 gene were genotyped in 207 Korean epileptics. 16386926 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 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
0.100 GeneticVariation disease BEFREE This study failed to corroborate a previously reported association between the C3435T polymorphism in the human MDR1 gene and pharmacoresistant epilepsy. 15857428 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.100 Biomarker disease BEFREE It has therefore been proposed that MDR1/PgP may contribute to multiple drug resistance in epilepsy. 12699350 2003