Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.630 Biomarker disease CTD_human Predictive models for subtypes of autism spectrum disorder based on single-nucleotide polymorphisms and magnetic resonance imaging. 22037176 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.630 GeneticVariation disease BEFREE Microsatellite marker in gamma - aminobutyric acid - a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. 19430570 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.630 GeneticVariation disease BEFREE Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. 17230033 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.630 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 2006
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.630 Biomarker disease HPO
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.630 Biomarker disease MGD
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
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 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 CausalMutation disease CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
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
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 Biomarker group BEFREE Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. 24249596 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 GeneticVariation group 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
0.600 Biomarker group MGD Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. 17983671 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 GeneticVariation group LHGDN finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to autism spectrum disorders in the Korean population 17230033 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 Biomarker group 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 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 AlteredExpression group BEFREE Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. 15615769 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 Biomarker group CTD_human Association between a GABRB3 polymorphism and autism. 11920158 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 GeneticVariation group BEFREE Three of the GABAA receptor subunit genes (GABRB3, GABRA5 and GABRG3) form a cluster on chromosome 15q11-q13, in a region that has been genetically associated with autistic disorder (AutD). 12092907 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 GeneticVariation group BEFREE Association between a GABRB3 polymorphism and autism. 11920158 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 GeneticVariation group 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
0.600 Biomarker group BEFREE Unlike Cook et al., we failed to detect significant linkage disequilibrium between GABRB3 155CA-2 and AD in our sample. 10686550 2000
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.600 GeneticVariation group BEFREE Chromosome 15q11-q13 has been implicated in the genetic etiology of AD based on (1) cytogenetic abnormalities; (2) increased recombination frequency in this region in AD versus non-AD families; (3) suggested linkage with markers D15S156, D15S219, and D15S217; and (4) evidence for significant association with polymorphisms in the gamma-aminobutyric acid receptor subunit B3 gene (GABRB3). 10644429 2000