Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 AlteredExpression disease BEFREE The expression of miR-92b had a negative correlation with the expression of Gabra3 in TNBC tissues. 31841197 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 AlteredExpression disease BEFREE The expression of miR-92b had a negative correlation with the expression of Gabra3 in TNBC tissues. 31841197 2019
CUI: C0014544
Disease: Epilepsy
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
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 GeneticVariation group BEFREE Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. 29053855 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE Our previous study demonstrated that Gabra3 plays critical roles in cancer progression. 29078789 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 Biomarker disease BEFREE However, whether Gabra3 is regulated by miRNAs in PC remains unknown. 29078789 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 Biomarker disease BEFREE However, whether Gabra3 is regulated by miRNAs in PC remains unknown. 29078789 2017
CUI: C0432072
Disease: Dysmorphic features
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
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.010 GeneticVariation phenotype BEFREE Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. 29053855 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Our study demonstrates a significant role for mRNA-edited Gabra3 in breast cancer metastasis. 26869349 2016
CUI: C0024232
Disease: Lymphatic Metastasis
Lymphatic Metastasis 		0.010 Biomarker disease BEFREE GABRA3 promotes lymphatic metastasis in lung adenocarcinoma by mediating upregulation of matrix metalloproteinases. 27081042 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
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
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE GABRA3 promotes lymphatic metastasis in lung adenocarcinoma by mediating upregulation of matrix metalloproteinases. 27081042 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Our study demonstrates a significant role for mRNA-edited Gabra3 in breast cancer metastasis. 26869349 2016
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 Biomarker disease BEFREE These results indicate that GABRA3 promotes lymph node metastasis and may thus be an effective therapeutic target for anticancer treatment. 27081042 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE A-to-I-edited Gabra3 has reduced cell surface expression and suppresses the activation of AKT required for cell migration and invasion. 26869349 2016
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 AlteredExpression group BEFREE Additionally, we show that high CT-GABRA3 transcription correlates with reduced TET1 mRNA levels in vivo in lung tumors. 25089631 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.010 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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE CT-GABRA3 also carries a microRNA (miR-767) with predicted target sites in TET1 and TET3, two members of the ten-eleven-translocation family of tumor suppressor genes, which are involved in the conversion of 5-methylcytosines to 5-hydroxymethylcytosines (5hmC) in DNA. 25089631 2014
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.010 GeneticVariation disease BEFREE Association of genetic variants in GABRA3 gene and thyrotoxic hypokalaemic periodic paralysis in Thai population. 17970773 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE We determined the in vitro and in vivo effect of GABA in the proliferation of GABRA3-positive cell lines, and found that GABA increased HCC growth in a dose-dependent manner. 19084931 2008
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.010 Biomarker disease BEFREE The results of our study indicate that GABRA 3 gene might also be involved in the genetic pathophysiology of unipolar major depressive disorder (at least in female patients), even if the findings do not support a predominant role of GABRA 3. 15048654 2004
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 Biomarker disease BEFREE The results of our study indicate that GABRA 3 gene might also be involved in the genetic pathophysiology of unipolar major depressive disorder (at least in female patients), even if the findings do not support a predominant role of GABRA 3. 15048654 2004
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.010 Biomarker group BEFREE Lack of association between GABRA3 and unipolar affective disorder: a multicentre study. 11602034 2001
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE The genomic characterization of GLUR3 and GABRA3 will allow mutational analysis of these genes as candidates for other X-linked neurological disorders mapping to Xq25-Xq26 and Xq28. 10602120 2000