Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE Mutations in GABRB3 have been increasingly recognized as a major cause for severe paediatric epilepsy syndromes such as Lennox-Gastaut syndrome, Dravet syndrome and infantile spasms with intellectual disability as well as relatively mild epilepsy syndromes such as childhood absence epilepsy. 31435640 2019
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 AlteredExpression disease BEFREE Previous studies reported that SNPs at the 5' regulatory region of GABRB3 could regulate GABRB3 gene expression and associated with childhood absence epilepsy (CAE). 25025424 2014
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. 22303015 2012
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE. 20550555 2010
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). 20308251 2010
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. 18514161 2008
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 Biomarker disease CTD_human Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE. 17215107 2007
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE In a previous study of our group, an association between the GABA(A) receptor beta3 subunit (GABRB3) gene and CAE was shown. 16835263 2006
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE The object of this study was to investigate whether or not CAE is associated with the gene encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits alpha5 (GABRA5) and beta3 (GABRB3) in a Chinese population. 15498372 2004
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy
0.400 GeneticVariation disease BEFREE The object of the present study was to test association between CAE and the genes encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits alpha 5 (GABRA5) and beta 3 (GABRB3) located on the long arm of chromosome 15 (15q11-q13). 10509183 1999