Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 CausalMutation disease CLINVAR
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 Biomarker disease CTD_human
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 GeneticVariation disease CLINVAR
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		0.500 Biomarker disease RGD Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy. 15929193 2005
CUI: C0019151
Disease: Hepatic Encephalopathy
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
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: C0001973
Disease: Alcoholic Intoxication, Chronic
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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 GeneticVariation disease BEFREE We found consistent, although weak, linkage disequilibrium between GABRB1 (located on chromosome 4) and alcoholism (P < 0.03). 12555233 2003
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease BEFREE This analysis supports the previous finding that the region close to GABRB1 on chromosome 4 might be associated with alcohol dependence. 10597459 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. 10490712 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 GeneticVariation disease BEFREE Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. 10490712 1999
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease BEFREE 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
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: 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease BEFREE 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease BEFREE 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
CUI: C0004352
Disease: Autistic Disorder
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
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