Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		0.010 GeneticVariation disease BEFREE To study the impact of genetic factors that play an important role in an individual's vulnerability to alcohol abuse and dependence, we examined the genetic variations of the major neurotransmitter genes, including the dopamine D2 receptor (DRD2) TaqI A, B, and -141C insertion/deletion (Ins/Del) polymorphisms, the serotonin transporter-linked polymorphic region (5-HTTLPR), and the gamma-aminobutyric acid A (GABA(A)) receptor beta(3) subunit gene (GABRbeta3), for 130 Mexican-American alcoholic men and 251 nonalcoholic control subjects (105 men and 146 women). 15066703 2004
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.010 GeneticVariation disease LHGDN Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. 11810291 2002
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 Biomarker disease BEFREE Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. 11810291 2002
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		0.010 GeneticVariation disease BEFREE GABA(A) receptor beta 3 subunit gene and psychiatric morbidity in a post-traumatic stress disorder population. 11711165 2001
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.010 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		0.010 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		0.010 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		0.010 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7 		0.010 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8 		0.010 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9 		0.010 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 GeneticVariation group BEFREE Chromosome 15q11-q13 has been implicated in the genetic etiology of AD based on (1) cytogenetic abnormalities; (2) increased recombination frequency in this region in AD versus non-AD families; (3) suggested linkage with markers D15S156, D15S219, and D15S217; and (4) evidence for significant association with polymorphisms in the gamma-aminobutyric acid receptor subunit B3 gene (GABRB3). 10644429 1999
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.010 Biomarker disease BEFREE Abnormal expression of genes codifying for the subfamily of K+ channels and for gamma-aminobutyric acid-3 subunit receptors (GABRB3), both located in the chromosome segments involved in the chromosomopathies presented by our patients, could be responsible for the same generalized seizure type. 9637609 1998
CUI: C0270854
Disease: Symptomatic Generalized Epilepsy
Symptomatic Generalized Epilepsy 		0.010 GeneticVariation disease BEFREE AS is considered a good model of symptomatic generalized epilepsy associated with chromosomal DNA deletion of the (GABA)A receptor beta 3-subunit gene. 1464267 1993
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.020 GeneticVariation disease BEFREE Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. 31319422 2019
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.020 GeneticVariation disease BEFREE Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. 31319422 2019
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.020 GeneticVariation disease BEFREE Mutations in GABRB3 have been increasingly recognized as a major cause for severe paediatric epilepsy syndromes such as Lennox-Gastaut syndrome, Dravet syndrome and infantile spasms with intellectual disability as well as relatively mild epilepsy syndromes such as childhood absence epilepsy. 31435640 2019
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.020 GeneticVariation group BEFREE Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder. 30074174 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.020 Biomarker disease BEFREE In summary, the data in this study identify GABRB3 as a candidate gene for Dravet syndrome. 28544625 2017
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.020 Biomarker disease BEFREE In summary, the data in this study identify GABRB3 as a candidate gene for Dravet syndrome. 28544625 2017
CUI: C0011253
Disease: Delusions
Delusions 		0.020 Biomarker disease BEFREE 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: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe 		0.020 GeneticVariation disease BEFREE 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: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.020 Biomarker disease BEFREE We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE. 20550555 2010
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.020 Biomarker disease BEFREE Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). 20308251 2010
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.020 Biomarker disease BEFREE Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). 20308251 2010