EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
|
27273810 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
|
27273810 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
|
26950270 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hepatic Encephalopathy
|
0.500 |
Biomarker
|
disease |
CTD_human |
Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy.
|
15929193 |
2005 |
Alcoholic Intoxication, Chronic
|
0.340 |
Biomarker
|
disease |
PSYGENET |
GABA(A) receptor beta isoform protein expression in human alcoholic brain: interaction with genotype.
|
16766085 |
2006 |
Alcoholic Intoxication, Chronic
|
0.340 |
Biomarker
|
disease |
PSYGENET |
We found consistent, although weak, linkage disequilibrium between GABRB1 (located on chromosome 4) and alcoholism (P < 0.03).
|
12555233 |
2003 |
Alcoholic Intoxication, Chronic
|
0.340 |
Biomarker
|
disease |
PSYGENET |
This analysis supports the previous finding that the region close to GABRB1 on chromosome 4 might be associated with alcohol dependence.
|
10597459 |
1999 |
Alcoholic Intoxication, Chronic
|
0.340 |
Biomarker
|
disease |
PSYGENET |
Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene.
|
10490712 |
1999 |
Alcoholic Intoxication, Chronic
|
0.340 |
Biomarker
|
disease |
PSYGENET |
Three chromosome 4 markers located in a region of 50 cM spanning from GABRB1 to D4S1651 provided Monte Carlo (MC) p-values lower than 0.005, confirming the possible influence of beta 1 GABA receptor and ADH genes in alcoholism.
|
10597473 |
1999 |
Autistic Disorder
|
0.330 |
Biomarker
|
disease |
CTD_human |
These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.
|
16770606 |
2006 |
Autistic Disorder
|
0.330 |
Biomarker
|
disease |
CTD_human |
Through the convergence of all analyses, we conclude that GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1.
|
16080114 |
2005 |
Schizophrenia
|
0.320 |
Biomarker
|
disease |
PSYGENET |
As a result, we identified one gene set with a joint effect significantly associated with schizophrenia and gene expression profiling analysis suggested that they were mainly neuro- and immune-related genes, such as glutamatergic gene (GRM5), GABAergic genes (GABRB1, GABARAP) and genes located in the MHC region (HLA-C, TAP2, HIST1H1B).
|
24365204 |
2014 |
Schizophrenia
|
0.320 |
Biomarker
|
disease |
PSYGENET |
We have previously reported evidence that variation at GABA(A) receptor genes is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features (Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3.
|
20583128 |
2010 |
Bipolar Disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
We have previously reported evidence that variation at GABA(A) receptor genes is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features (Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3.
|
20583128 |
2010 |
Bipolar Disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
In the recent Wellcome Trust Case Control Consortium genome-wide association analysis of bipolar disorder (1868 cases, 2938 controls) one of the most strongly associated polymorphisms lay within the gene encoding the GABA(A) receptor beta1 subunit, GABRB1.
|
19078961 |
2010 |
Schizoaffective disorder, bipolar type
|
0.310 |
Biomarker
|
disease |
PSYGENET |
Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder.
|
20583128 |
2010 |
Respiratory Distress Syndrome, Adult
|
0.300 |
Biomarker
|
disease |
CTD_human |
MicroRNA and mRNA expression profiling in rat acute respiratory distress syndrome.
|
25070658 |
2014 |
Hepatic Coma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy.
|
15929193 |
2005 |
Fulminant Hepatic Failure with Cerebral Edema
|
0.300 |
Biomarker
|
disease |
CTD_human |
Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy.
|
15929193 |
2005 |
Hepatic Stupor
|
0.300 |
Biomarker
|
disease |
CTD_human |
Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy.
|
15929193 |
2005 |