Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.100 GeneticVariation disease GWASCAT High Genetic Risk Scores of ASIC2, MACROD2, CHRM3, and C2orf83 Genetic Variants Associated with Polycystic Ovary Syndrome Impair Insulin Sensitivity and Interact with Energy Intake in Korean Women. 30343302 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 GeneticVariation disease GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.100 GeneticVariation disease GWASCAT Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study. 28806749 2017
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		0.100 GeneticVariation disease GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
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
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 GeneticVariation disease UNIPROT A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy. 27273810 2016
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
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
CUI: C0036341
Disease: Schizophrenia
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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE 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
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.300 Biomarker disease CTD_human MicroRNA and mRNA expression profiling in rat acute respiratory distress syndrome. 25070658 2014
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 GeneticVariation disease UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease BEFREE Gamma-aminobutyric acid (type A) beta 1 receptor (GABRB1) disruption has been implicated in autism. 23392927 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 AlteredExpression disease BEFREE Western blot analysis showed GABRB1 protein levels increased in the FA-treated cells in a concentration-dependent manner. 23392927 2013
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.010 AlteredExpression disease BEFREE Western blot analysis showed GABRB1 protein levels increased in the FA-treated cells in a concentration-dependent manner. 23392927 2013
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 AlteredExpression disease BEFREE Western blot analysis showed GABRB1 protein levels increased in the FA-treated cells in a concentration-dependent manner. 23392927 2013
CUI: C0036341
Disease: Schizophrenia
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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE 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
CUI: C0005586
Disease: Bipolar Disorder
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
CUI: C0005586
Disease: Bipolar Disorder
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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.310 GeneticVariation disease BEFREE 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
CUI: C0270496
Disease: Schizoaffective disorder, bipolar type
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
CUI: C0270496
Disease: Schizoaffective disorder, bipolar type
Schizoaffective disorder, bipolar type 		0.310 GeneticVariation disease BEFREE 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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET GABA(A) receptor beta isoform protein expression in human alcoholic brain: interaction with genotype. 16766085 2006
CUI: C0004352
Disease: Autistic Disorder
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