Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.540 GeneticVariation disease BEFREE Examining paternal transmissions only, we found marginal evidence for LD with a protective allele at marker D15S11 in the ASD families (Chi-sq 7 df, P = 0.05) and marginal evidence for risk alleles at markers D15S1506 (Chi-sq 13.7, 6 df, P = 0.06), GABRB3 (Chi-sq 15.9, 8 df, P = 0.11) and D15S1002 (Chi-sq 17.7, 9 df, P = 0.08) in the autism only families. 15952184 2005
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.540 AlteredExpression disease BEFREE The underlying mechanism of the aberrant expression of GABRB3 gene in ASD patients should be investigated in other biological levels. 30074174 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.540 GeneticVariation disease BEFREE Our finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to ASD in the Korean population. 17230033 2006
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.540 Biomarker disease BEFREE Our data provide preliminary evidence that GABRB3 gene is associated with ASD in Korea. 19430570 2009
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 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 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 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 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: 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 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 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease BEFREE We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor subunit genes (GABRB3, GABRA5, and GABRG3). 11543639 2001
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease BEFREE Additionally, 15q11-q13 in the region of GABRB3 holds interest as a potential site of a susceptibility gene for autism. 10374739 1999
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 Biomarker disease BEFREE Examining paternal transmissions only, we found marginal evidence for LD with a protective allele at marker D15S11 in the ASD families (Chi-sq 7 df, P = 0.05) and marginal evidence for risk alleles at markers D15S1506 (Chi-sq 13.7, 6 df, P = 0.06), GABRB3 (Chi-sq 15.9, 8 df, P = 0.11) and D15S1002 (Chi-sq 17.7, 9 df, P = 0.08) in the autism only families. 15952184 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 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: 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.400 GeneticVariation disease BEFREE Association between a GABRB3 polymorphism and autism. 11920158 2002