|
Abnormal behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these disorders.
|
2574000 |
1989 |
|
Adenocarcinoma of lung (disorder)
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Herein, we show that high GABRA3 protein expression in lung adenocarcinoma correlated positively with disease stage, lymphatic metastasis status and poor patient survival.
|
27081042 |
2016 |
|
Autistic Disorder
|
0.300 |
Biomarker
|
disease |
CTD_human |
GABA(A) receptor downregulation in brains of subjects with autism.
|
18821008 |
2009 |
|
AV Block Second Degree by ECG Finding
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Bipolar Disorder
|
0.330 |
Biomarker
|
disease |
PSYGENET |
The localization of the alpha3 subunit GABA receptor (GABRA3) gene in Xq28, a region of interest for BPAD suggests that GABRA3 may be a relevant candidate gene.
|
11602034 |
2001 |
|
Bipolar Disorder
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Recently, an association between a CA-repeat in the GABRA 3 gene and bipolar disorder had been reported.
|
15048654 |
2004 |
|
Bipolar Disorder
|
0.330 |
Biomarker
|
disease |
PSYGENET |
Moreover, the localization of the alpha3 subunit GABA receptor GABRA3 gene on the Xq28, a region of interest in certain forms of bipolar illness, suggests that GABRA3 may be a candidate gene in BPAD.
|
11840313 |
2002 |
|
Bipolar Disorder
|
0.330 |
Biomarker
|
disease |
PSYGENET |
Lack of association between manic-depressive illness and a highly polymorphic marker from GABRA3 gene.
|
8546157 |
1995 |
|
Bipolar Disorder
|
0.330 |
Biomarker
|
disease |
PSYGENET |
X-linked manic depression and other psychiatric disorders have been mapped to this region, and thus GABRA3 is a potential candidate gene for these disorders.
|
2574000 |
1989 |
|
Bipolar Disorder
|
0.330 |
Biomarker
|
disease |
PSYGENET |
Recently, an association between a CA-repeat in the GABRA 3 gene and bipolar disorder had been reported.
|
15048654 |
2004 |
|
Bipolar Disorder
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Lack of association between manic-depressive illness and a highly polymorphic marker from GABRA3 gene.
|
8546157 |
1995 |
|
Bipolar Disorder
|
0.330 |
Biomarker
|
disease |
BEFREE |
The localization of the alpha3 subunit GABA receptor (GABRA3) gene in Xq28, a region of interest for BPAD suggests that GABRA3 may be a relevant candidate gene.
|
11602034 |
2001 |
|
Breast Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our study demonstrates a significant role for mRNA-edited Gabra3 in breast cancer metastasis.
|
26869349 |
2016 |
|
Carcinoma of lung
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, GABRA3 protein expression was significantly higher in the lower grade of lung cancer.
|
19048400 |
2009 |
|
Carcinoma of lung
|
0.030 |
Biomarker
|
disease |
BEFREE |
Here, we report identification of a novel cancer-germline transcript (CT-GABRA3) displaying DNA hypomethylation-dependent activation in various tumors, including melanoma and lung carcinoma.
|
25089631 |
2014 |
|
Carcinoma of lung
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
The GABAA receptor subunit GABRA3 is reportedly upregulated in lung cancer.
|
27081042 |
2016 |
|
Cerebellar degeneration
|
0.010 |
Biomarker
|
disease |
BEFREE |
In order to address the possibility of further X chromosomal or autosomal genetic factors in RTT, we evaluated six candidate genes for RTT selected on clinical, pathological, and genetic grounds: UBE1 (human ubiquitin activating enzyme E1, located in chromosome Xp11.23), UBE2I (ubiquitin conjugating enzyme E2I, homologous to yeast UBC9, chromosome 16p13.3), GdX (ubiquitin-like protein, chromosome Xq28), SOX3 (SRY related HMG box gene 3, chromosome Xq26-q27), GABRA3 (gamma-aminobutyric acid type A receptor alpha3 subunit, chromosome Xq28), and CDR2 (cerebellar degeneration related autoantigen 2, chromosome 16p12-p13.1).
|
10745042 |
2000 |
|
Constipation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Depressive disorder
|
0.300 |
Biomarker
|
disease |
PSYGENET |
This work suggests that GABRA3 regulates a behavioral endophenotype of depression and establishes this gene as a viable new target for the study and treatment of human depression.
|
20512339 |
2010 |
|
Dysmorphic features
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In summary, our results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
|
29053855 |
2017 |
|
Electromyogram abnormal
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Encephalopathies
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
|
29053855 |
2017 |
|
Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In summary, our results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
|
29053855 |
2017 |
|
Epileptic Seizures
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
|
29053855 |
2017 |
|
Episodic flaccid weakness
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|