rs211037, GABRG2

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE A significant association was found with the TT homozygous genotype and T allele for both febrile seizures and epilepsy for the C588T locus, while GABRG2 G>A 3145 showed no significant association with any type of seizure. 29379546 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE The present study was designed to explore whether the GABARG2 C588 T (rs211037) genetic variant predicts susceptibility to epilepsy and pharmacoresistance among Egyptian children with Idiopathic Generalized Epilepsy (IGE). 29894917 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE Rs1912960 has been associated with ASD and rs211037 with epilepsy. 26239769 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE We could substantiate that among the GABA(A) receptor subunit gene cluster polymorphisms, the GABRG2, rs211037 predisposes susceptibility to epilepsy, irrespective of its phenotype, but not to AED resistance. 24061200 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE Eight studies comprising 1871 epilepsy patients and 1387 controls, which evaluated association of the GABRG2 rs211037 polymorphism with susceptibility to epilepsy, were included in this meta-analysis. 23140995 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE However GABRG2 588C>T polymorphism was not found to be associated either with epilepsy susceptibility or with drug resistance. 20356767 2010
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.050 GeneticVariation BEFREE GABRG2 rs211037 TT homozygotes and T allele variants have an increased risk for developing febrile seizures.</span> 29379546 2018
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.050 GeneticVariation BEFREE In conclusion, rs211037 alone may be a risk factor for FS, partial seizure, and SE, and in linkage disequilibrium with rs210987 can contribute to FS and SE in Asians, particularly in Chinese. 26452361 2016
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.050 GeneticVariation BEFREE GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. 24061200 2013
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.050 GeneticVariation BEFREE This study showed significant association of GABRG2 rs211037 with susceptibility to FS, caused by two studies with small sample sizes, however the possibility of false positive results due to the effect of significant studies for FS cannot be excluded. 23140995 2013
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.050 GeneticVariation BEFREE One hundred twenty-seven cases of seizure (86 GS and 41 FS) patients were analyzed for MDR1 C3435T and GABRG2 C588T gene polymorphisms using restriction fragment length polymorphism-polymerase chain reaction.Serum PHT levels were analyzed. 22239287 2012
Seizures
CUI: C0036572
Disease: Seizures
0.040 GeneticVariation BEFREE The GABRG2 588 C > T polymorphism may decrease the duration of seizures in JME patients. 29785705 2018
Seizures
CUI: C0036572
Disease: Seizures
0.040 GeneticVariation BEFREE A significant association was found with the TT homozygous genotype and T allele for both febrile seizures and epilepsy for the C588T locus, while GABRG2 G>A 3145 showed no significant association with any type of seizure. 29379546 2018
Seizures
CUI: C0036572
Disease: Seizures
0.040 GeneticVariation BEFREE One hundred twenty-seven cases of seizure (86 GS and 41 FS) patients were analyzed for MDR1 C3435T and GABRG2 C588T gene polymorphisms using restriction fragment length polymorphism-polymerase chain reaction.Serum PHT levels were analyzed. 22239287 2012
Seizures
CUI: C0036572
Disease: Seizures
0.040 GeneticVariation BEFREE The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11+15 A>G (rs2279020) and GABRG2 588C>T (rs211037) genes in seizure susceptibility and pharmaco-resistance in northern Indian patients with epilepsy. 20356767 2010
Juvenile Myoclonic Epilepsy
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
0.030 GeneticVariation BEFREE The GABRG2 588 C > T polymorphism may decrease the duration of seizures in JME patients. 29785705 2018
Juvenile Myoclonic Epilepsy
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
0.030 GeneticVariation BEFREE These results present no evidence for an association of rs211037 with JME. 23287319 2015
Juvenile Myoclonic Epilepsy
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
0.030 GeneticVariation BEFREE A significant allelic (P=0.0006, odds ratio=1.6, 95% confidence interval=1.22-2.08) and genotypic (P=0.001) association of a synonymous variant in GABRG2, rs211037 (Asn196Asn) was observed with epilepsy irrespective of its phenotype, that is, MTLE-HS or juvenile myoclonic epilepsy. 24061200 2013
Idiopathic generalized epilepsy
CUI: C0270850
Disease: Idiopathic generalized epilepsy
0.020 GeneticVariation BEFREE The genetic variant "C588T" of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs. 29894917 2018
Idiopathic generalized epilepsy
CUI: C0270850
Disease: Idiopathic generalized epilepsy
0.020 GeneticVariation BEFREE Several studies have examined a possible link between the exonic GABRG2 rs211037 locus and susceptibility to febrile seizure (FS) and idiopathic generalized epilepsy (IGE), however results have been inconclusive. 23140995 2013
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
0.010 GeneticVariation BEFREE This case-control study aimed to assess two single nucleotide polymorphisms of the gene encoding the GABRG2 protein - GABRG2 (3145 G>A) and GABRG2 rs 211037 Asn196Asn (C588T) - in a cohort of pediatric patients from Romania, and evaluate their possible impact on drug-resistant forms of generalized epilepsy and recurrent febrile seizures. 29379546 2018
Recurrent seizure
CUI: C0748607
Disease: Recurrent seizure
0.010 GeneticVariation BEFREE GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population. 29379546 2018
Symptomatic epilepsy
CUI: C1406659
Disease: Symptomatic epilepsy
0.010 GeneticVariation BEFREE The rs211037-rs210987 and rs2422106-rs211014-rs401750 haplotypes we</span>re also associated with susceptibility to SE in Chinese. 26452361 2016
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
0.010 GeneticVariation BEFREE Results of the case-control study showed associations between rs211037 and the risk of SE in the pooled data from all cohorts (T vs. C, p = 3 × 10(-5), and TT vs. CC, p = 2 × 10(-5)) and the risk of partial seizure in the combined data of Malaysia and Hong Kong (both T vs. C and TT vs. CC, p = 2 × 10(-6)). 26452361 2016
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Rs1912960 has been associated with ASD and rs211037 with epilepsy. 26239769 2015