rs1805057, GABBR1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.070 GeneticVariation BEFREE The present meta-analysis suggests that GABBR1 G1465A polymorphism is associated with the risk of TLE. 21621395 2011
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.070 GeneticVariation BEFREE We also analysed in our study population the GABA(B) receptor 1 c.1465G>A and the prodynorphin promoter 68-bp repeat polymorphisms, previously associated with temporal lobe epilepsy. 18355961 2008
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.070 GeneticVariation BEFREE However, six replication studies did not show significant association between the G1465A GABABR1 gene variant and TLE. 18255321 2008
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.070 GeneticVariation BEFREE Recently a coding nonsynonymous single-nucleotide polymorphism (SNP; G1465A) in the GABBR1 gene was reported to be associated with the incidence and severity of temporal lobe epilepsy (TLE). 16499773 2006
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.070 GeneticVariation BEFREE Our results indicate that TLE preceded by FS is not associated with the polymorphisms or mutations in the GABBR1 gene, including the G1465A polymorphism. 15799783 2005
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.070 GeneticVariation BEFREE Recently, it is reported that the GABA(B)R1 polymorphism (G1465A) conferred a highly increased susceptibility to TLE. 16278087 2005
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.070 GeneticVariation BEFREE The results of this study indicate that the GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to TLE. 12601092 2003
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.010 GeneticVariation BEFREE Our results indicate that TLE preceded by FS is not associated with the polymorphisms or mutations in the GABBR1 gene, including the G1465A polymorphism. 15799783 2005