Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023980
Disease: Longevity
Longevity 		0.100 GeneticVariation phenotype GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067 2010
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.600 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.600 GeneticVariation phenotype UNIPROT Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
CUI: C2677087
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.600 GeneticVariation phenotype UNIPROT GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. 22303015 2012
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
CUI: C4310712
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.600 GeneticVariation disease UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET Recently, microsatellite polymorphisms have been reported to be associated with four genes, GABRB3, MAOB, PAH, and SLC6A4, and their relationships have been tested to five symptom factors: hallucinations, delusions, negative symptoms, mania, and depression. 22414661 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; individuals homozygous for the G allele showed reduced GABRB3 mRNA expression. 22082659 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET Patients carrying the GABRB3 G1+ allele showed stronger AE relating to negative affective change (for example, increased depression) than their GABRB3 G1- counterparts. 15296817 2004
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET In conclusion, the present study indicates that in a population of PTSD patients, heterozygosity of the GABRB3 major (G1) allele confers higher levels of somatic symptoms, anxiety/insomnia, social dysfunction and depression than found in homozygosity. 11711165 2001
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.430 Biomarker disease PSYGENET We tested four genes [phenylalanine hydroxylase (PAH), the serotonin transporter (SLC6A4), monoamine oxidase B (MAOB), and the gamma-aminobutyric acid A receptor beta-3 subunit (GABRB3)] for their impact on five schizophrenia symptom factors: delusions, hallucinations, mania, depression, and negative symptoms. 19268543 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.370 Biomarker disease PSYGENET These results provide additional evidence that GABRB3 and MAOB/NDP gene regions might constitute risk factors for hallucinations and delusions in schizophrenia. 22414661 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.370 Biomarker disease PSYGENET We resequenced the promoter and all the exonic regions of the GABRB3 gene in 349 patients with schizophrenia and 386 control participants from Taiwan using the Sanger sequencing method. 24865167 2014
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET In AAs, 2 CpGs in 2 genes (GABRB3 and POMC) were hypermethylated in AD cases compared with controls (p ≤ 0.001). 22924764 2013
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET In the present study, A1+ (A1A1 and A1A2 genotypes) and A1- (A2A2 genotype) alleles of the DRD2 and G1+ (G1G1 and G1 non-G1 genotypes) and G1- (non-G1 non-G1 genotype) alleles of the GABRB3 gene were determined in a group of 56 medically ill patients diagnosed with alcohol dependence. 15296817 2004
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET However, when the DRD2 and the GABRB3 variants are combined, the risk for alcoholism is more robust than when these variants are considered separately. 9858031 1998
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.340 Biomarker disease PSYGENET Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans. 15066703 2004
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease PSYGENET In conclusion, the present study indicates that in a population of PTSD patients, heterozygosity of the GABRB3 major (G1) allele confers higher levels of somatic symptoms, anxiety/insomnia, social dysfunction and depression than found in homozygosity. 11711165 2001
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease PSYGENET The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; individuals homozygous for the G allele showed reduced GABRB3 mRNA expression. 22082659 2011
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.330 Biomarker disease PSYGENET Patients carrying the GABRB3 G1+ allele showed stronger AE relating to negative affective change (for example, increased depression) than their GABRB3 G1- counterparts. 15296817 2004