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 |
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 |
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 |
X-linked infantile spasms
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
|
26645412 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Oral cleft
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in GABRB3 and oral clefting in the Brazilian population.
|
23438326 |
2013 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Dystonia Disorders
|
0.010 |
GeneticVariation
|
group |
LHGDN |
Screening of GABA(A)-receptor gene mutations in primary dystonia.
|
17880575 |
2007 |
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
Decreased hepatocyte membrane potential differences and GABAA-beta3 expression in human hepatocellular carcinoma.
|
17326191 |
2007 |
Pancreatic Neoplasm
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
The gamma-aminobutyric acid A receptor pi subunit is overexpressed in pancreatic adenocarcinomas.
|
15767729 |
2005 |