Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 CausalMutation disease CLINVAR
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease CLINVAR
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 Biomarker disease CTD_human
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
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 Biomarker disease MGD
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 Biomarker disease CTD_human Predictive models for subtypes of autism spectrum disorder based on single-nucleotide polymorphisms and magnetic resonance imaging. 22037176 2011
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 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