Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
0.100 Biomarker phenotype HPO
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
0.100 Biomarker phenotype HPO
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 GeneticVariation disease BEFREE One 15q11-q13 locus encodes the GABA(A) receptor β3 subunit gene (GABRB3), which has been implicated by several studies in both autism and absence epilepsy, and the co-morbidity of epilepsy in autism is well established. 19935738 2011
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 AlteredExpression disease LHGDN A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. 16835263 2006
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 GeneticVariation disease BEFREE Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE. 17215107 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 Biomarker disease CTD_human Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 GeneticVariation disease LHGDN Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902) which displayed a reduced transcriptional activity and showed a strong allelic association with childhood absence epilepsy (CAE). 17215107 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 GeneticVariation disease BEFREE Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. 16302874 2005
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 Biomarker disease HPO
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 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
CUI: C4553705
Disease: Absence Seizure Disorder
Absence Seizure Disorder
0.300 Biomarker disease CTD_human Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.110 Biomarker phenotype HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.110 GeneticVariation phenotype BEFREE Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. 16302874 2005
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
0.100 Biomarker phenotype HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0.100 Biomarker phenotype HPO
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal
0.300 Biomarker disease CTD_human Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
0.010 GeneticVariation disease BEFREE The 15q11.2-q13.1 deletion contains genes critical for Prader-Willi syndrome, the Angelman syndrome causing genes UBE3A and ATP10A/C, and several non-imprinted genes: GABRB3 and GABRA5 (both encoding subunits of GABA A receptor), GOLGA6L2, HERC2 and OCA2 (associated with oculocutaneous albinism II). 23124039 2013