Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder
0.010 GeneticVariation disease BEFREE Four haplotypes were significantly associated with BDI (TA and AG for rs3815762 and rs4868029 in GABRP, GG for rs11636988 and rs8024256 in GABRB3 and GAGG for rs2197414, rs4921195, rs13188991, and rs11956731 in GABRA6, with p values of 0.0038, 0.044, 0.0176, and 0.0267, respectively, on 10,000 permutations). 29135068 2018
Epilepsy of infancy with migrating focal seizures
0.010 GeneticVariation disease BEFREE Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins. 29444535 2018
CUI: C0795875
Disease: Chromosome 21 monosomy
Chromosome 21 monosomy
0.010 AlteredExpression disease BEFREE Trisomy 21 embryos showed significant up-regulation of markers of cell differentiation (Cadherin-5 (CDH5) and Laminin subunit gamma-1 (LAMC1)), whereas monosomy 21 blastocysts showed higher expression of genes reported to be expressed in undifferentiated cells (Gamma-Aminobutyric Acid Type-A Receptor Beta3 Subunit (GABRB3) and GDF3). 28369516 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
0.010 Biomarker disease BEFREE Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. 28009282 2016
Secondary malignant neoplasm of lymph node
0.010 Biomarker disease BEFREE Down-regulation of PEG3-AS1 (p<0.05) and GABRB3 (p<0.01) was correlated with lymph node metastasis. 27127130 2016
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
0.010 Biomarker disease BEFREE Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. 28009282 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
0.010 GeneticVariation disease BEFREE GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. 26645412 2016
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence
0.010 GeneticVariation disease BEFREE Two major haplotypes (C-A-G and T-G-C) derived from these 3 SNPs accounted for 99% of this sample, and reporter gene activity assay showed that haplotype C-A-G that contained the C allele of the tag SNP rs4906902 had higher activity than haplotype T-G-C. Our data suggest that GABRB3 might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence. 25025424 2014
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
0.010 Biomarker disease BEFREE These findings provide genetic evidence for the involvement of the genes GABRB3 and GABRA5 in the susceptibility to PD. 24755890 2014
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
0.010 Biomarker disease BEFREE GABRB3 encoding the β3 subunit of GABAA receptor has been implicated in multiple neuropsychiatric disorders, including substance abuse. 25025424 2014
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 AlteredExpression disease BEFREE In the present study, we validated the ability of 14 commonly used real-time RT-PCR markers to detect MRD based on their expression in neuroblastoma TICs, and we developed a novel MRD detection protocol, which scored the samples as MRD-positive when the expression of one of the 11 real-time RT-PCR markers (CHRNA3, CRMP1, DBH, DCX, DDC, GABRB3, GAP43, ISL1, KIF1A, PHOX2B and TH) exceeded the normal range. 23417100 2013
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
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2
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
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 AlteredExpression disease BEFREE In the present study, we validated the ability of 14 commonly used real-time RT-PCR markers to detect MRD based on their expression in neuroblastoma TICs, and we developed a novel MRD detection protocol, which scored the samples as MRD-positive when the expression of one of the 11 real-time RT-PCR markers (CHRNA3, CRMP1, DBH, DCX, DDC, GABRB3, GAP43, ISL1, KIF1A, PHOX2B and TH) exceeded the normal range. 23417100 2013
CUI: C4021813
Disease: Oral cleft
Oral cleft
0.010 GeneticVariation disease BEFREE Polymorphisms in GABRB3 and oral clefting in the Brazilian population. 23438326 2013
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 AlteredExpression disease BEFREE In the present study, we validated the ability of 14 commonly used real-time RT-PCR markers to detect MRD based on their expression in neuroblastoma TICs, and we developed a novel MRD detection protocol, which scored the samples as MRD-positive when the expression of one of the 11 real-time RT-PCR markers (CHRNA3, CRMP1, DBH, DCX, DDC, GABRB3, GAP43, ISL1, KIF1A, PHOX2B and TH) exceeded the normal range. 23417100 2013
CUI: C0018524
Disease: Hallucinations
Hallucinations
0.010 Biomarker disease BEFREE These results provide additional evidence that GABRB3 and MAOB/NDP gene regions might constitute risk factors for hallucinations and delusions in schizophrenia. 22414661 2012
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
0.010 GeneticVariation disease BEFREE Allelic associations with generalized epilepsies have been reported for single nucleotide polymorphisms rs1883415 (ALDH5A1; succinic semialdehyde dehydrogenase) and rs4906902 (GABRB3; GABAA β3), both of which are present in the 5' regulatory region of genes involved in γ-aminobutyric acid (GABA) homeostasis. 22082659 2011
CUI: C0236792
Disease: Asperger Syndrome
Asperger Syndrome
0.010 GeneticVariation disease BEFREE Also, we found that one SNP--rs878960 in GABRB3--distinguishes Asperger syndrome from high-functioning autism. 22037176 2011
CUI: C3840214
Disease: High-functioning autism
High-functioning autism
0.010 GeneticVariation disease BEFREE Also, we found that one SNP--rs878960 in GABRB3--distinguishes Asperger syndrome from high-functioning autism. 22037176 2011
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
0.010 Biomarker disease BEFREE We found phenotypic differences exhibited by Dz-N and CLP fibroblasts in GABRB3 gene regulation, so further studies are necessary to determine whether GABAergic system could be involved in the development of diazepam mediated CLP phenotype. 19114084 2009
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
0.010 Biomarker disease BEFREE Quantitative real-time RT-PCR analysis of PWS and AS samples with paternal and maternal 15q11-13 deletions revealed a paternal expression bias of GABRB3, while RTT brain samples showed a significant reduction in GABRB3 and UBE3A. 17339270 2007
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.010 GeneticVariation group LHGDN Screening of GABA(A)-receptor gene mutations in primary dystonia. 17880575 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease LHGDN Decreased hepatocyte membrane potential differences and GABAA-beta3 expression in human hepatocellular carcinoma. 17326191 2007
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.010 AlteredExpression disease LHGDN The gamma-aminobutyric acid A receptor pi subunit is overexpressed in pancreatic adenocarcinomas. 15767729 2005