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: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 Biomarker disease BEFREE We aimed to investigate the expression levels of multidrug resistance gene 1 (MDR1), multidrug resistance-associated protein 1 (MRP1) and multidrug resistance P-glycoprotein (P-gp) in peripheral blood of patients with refractory epilepsy. 29318116 2018
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE The reported study was designed to explore associations between the MDR1-C3435T gene SNP and the risk of DRE in the Polish population. 27534401 2017
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE G2677T/A polymorphism of MDR1 may play a significant role in the development of DRE in the Polish patients. 28608314 2017
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE The relationship between the MDR1 C3435T polymorphism and childhood refractory epilepsy needs further validation. 28284049 2017
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE The presented studies analysed the association between C3435T polymorphism of MDR1 gene and the incidence of drug-resistant epilepsy in the population of Polish children. 27391700 2016
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 AlteredExpression disease BEFREE HIF-1α may have a regulatory effect on MDR1 expression in refractory epilepsy, which is probably consistent with MDR mechanism in tumor. 24590840 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE Multidrug resistance 1 (MDR1) 3435C/T genotyping in childhood drug-resistant epilepsy. 23465586 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE The obtained results clearly confirm the lack of a connection between the occurrence of drug-resistant epilepsy and C435T polymorphism of the MDR1 gene irrespective of the definition of drug resistance applied to the patient. 25223475 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE To assess the association between MDR1 C3435T polymorphism and the response to anticonvulsants in childhood intractable epilepsy, we conducted a systematic review and meta-analysis. 24553780 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE The relationship established in a subset of the Chinese population between the MDR1 C3435T polymorphism and refractory epilepsy will guide epilepsy treatment and development of new AEDs. 24953225 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE CYP3A5*3 and C3435T MDR1 polymorphisms in prognostication of drug-resistant epilepsy in children and adolescents. 23984379 2013
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE No associations were found between the polymorphisms of the MDR1 gene and drug-resistant epilepsy. 20448249 2010
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 GeneticVariation disease BEFREE Controversy has surrounded the reported association of the single nucleotide polymorphism (SNP) C3435T of the ATP-binding cassette subfamily B member 1 (ABCB1, MDR1) gene, with refractory epilepsy. 17125969 2007
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 AlteredExpression disease BEFREE Twenty-six patients (15 males, 11 females, age range 4-25 years, mean age 22.92 years, SD 11.19 years) with intractable epilepsy were included in this study; the clinical characteristics were considered, and the pathological changes as well as expression of MDR1 and GFAP in surgically removed brain tissues of each subject were examined under light and electron microscopy. 16998727 2006
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 AlteredExpression disease BEFREE Neuronal MDR-1 gene expression and persistent low levels of anticonvulsants in a child with refractory epilepsy. 14749549 2004
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 AlteredExpression disease BEFREE Both MDR1 gene expression and persistently low phenytoin levels likely share a common pathway liable to induce drug-resistant epilepsy. 10580886 1999
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.100 AlteredExpression disease BEFREE MDR1 expression is increased in brain of some patients with medically intractable epilepsy, suggesting that the patients' lack of response to medication may be caused by inadequate accumulation of AED in brain. 8001500 1995