Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 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 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 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: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.500 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET Recently, microsatellite polymorphisms have been reported to be associated with four genes, GABRB3, MAOB, PAH, and SLC6A4, and their relationships have been tested to five symptom factors: hallucinations, delusions, negative symptoms, mania, and depression. 22414661 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 GeneticVariation disease BEFREE The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; individuals homozygous for the G allele showed reduced GABRB3 mRNA expression. 22082659 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; individuals homozygous for the G allele showed reduced GABRB3 mRNA expression. 22082659 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET We tested four genes [phenylalanine hydroxylase (PAH), the serotonin transporter (SLC6A4), monoamine oxidase B (MAOB), and the gamma-aminobutyric acid A receptor beta-3 subunit (GABRB3)] for their impact on five schizophrenia symptom factors: delusions, hallucinations, mania, depression, and negative symptoms. 19268543 2009
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease BEFREE Patients carrying the GABRB3 G1+ allele showed stronger AE relating to negative affective change (for example, increased depression) than their GABRB3 G1- counterparts. 15296817 2004
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET Patients carrying the GABRB3 G1+ allele showed stronger AE relating to negative affective change (for example, increased depression) than their GABRB3 G1- counterparts. 15296817 2004
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 GeneticVariation disease BEFREE In conclusion, the present study indicates that in a population of PTSD patients, heterozygosity of the GABRB3 major (G1) allele confers higher levels of somatic symptoms, anxiety/insomnia, social dysfunction and depression than found in homozygosity. 11711165 2001
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET In conclusion, the present study indicates that in a population of PTSD patients, heterozygosity of the GABRB3 major (G1) allele confers higher levels of somatic symptoms, anxiety/insomnia, social dysfunction and depression than found in homozygosity. 11711165 2001
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease HPO
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3, encoding gamma-aminobutyric acid type A receptor subunits (β3, α5, γ3). 30826071 2019
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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease BEFREE Further analysis indicated that no associations were found between GABRB3 SNPs and autism on rs2081648 [OR = 0.84 (95% CI) = 0.41-1.72, I<sup>2</sup> = 89.2%] and rs1426217 [OR = 1.13 (95% CI) = 0.64-2.0, I<sup>2</sup> = 83%]. 29725984 2018