Disease: Angelman Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by either disruptions of the gene UBE3A or deletion of chromosome 15 at 15q11-q13, which encompasses UBE3A and several other genes, including GABRB3, GABRA5, GABRG3, encoding gamma-aminobutyric acid type A receptor subunits (β3, α5, γ3). 30826071 2019
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in AS and PWS. 28009282 2016
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 AlteredExpression disease BEFREE Quantitative real-time RT-PCR analysis of PWS and AS samples with paternal and maternal 15q11-13 deletions revealed a paternal expression bias of GABRB3, while RTT brain samples showed a significant reduction in GABRB3 and UBE3A. 17339270 2007
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease CTD_human Since most children with Angelman syndrome are autosomal heterozygotes of maternal origin, apparently through genomic imprinting, we used gabrb3-deficient heterozygote mice of defined parental origin to investigate whether this phenotype is also maternally imprinted in mouse. 15878204 2005
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor subunit genes (GABRB3, GABRA5, and GABRG3). 11543639 2001
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE These gabrb3 gene knockout mice provide direct evidence that a reduction of a specific subunit of the GABA(A) receptor system can result in epilepsy and support a GABAergic role in the pathophysiology of Angelman syndrome. 10515160 1999
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE Involvement of other genes in the chromosome 15q11-13 deletion, such as GABRB3, may explain severe epilepsy in AS. 9546330 1998
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE The loss of the single gene, gabrb3, in these mice is sufficient to cause phenotypic traits that have marked similarities to the clinical features of AS, indicating that impaired expression of the GABRB3 gene in humans probably contributes to the overall phenotype of Angelman syndrome. 9763493 1998
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. 9831341 1998
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE The common deletion of GABRB 3 was documented in those AS cases (n = 15) by FISH. 9044396 1997
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE Fluorescence in situ hybridization (FISH) using cosmid probes for SNRPN, D15S10, and GABRB3 for the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) critical region were not present on the derived chromosome. 9128934 1997
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3. 8882776 1996
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE In a series of 18 individuals comprising parents of Angelman syndrome (AS) patients and AS patients with large deletions, microdeletions, and no deletions, we utilized fluorescence in situ hybridization (FISH) with genomic phage clones for loci D15S63 and GABRB3 for deletion detection of chromosome 15q11-q13. 7747771 1995
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE Of 8 familial cases, 3 sibs from one family had a molecular deletion involving only 2 loci, D15S10 and GABRB3, which define the critical region for AS phenotypes. 7802001 1994
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE To date, the AS critical region has been defined by an inherited deletion of approximately 1.5Mb, spanning the 3-21 (D15S10), LS6-1 (D15S113) and GABRB3 loci. 7987324 1994
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE Molecular analysis of patients with varying deletions has localized the AS locus to the interval between D15S113 and GABRB3 and the PWS locus between D15S13 and D15S113. 8188222 1994
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE This recombination within the AS critical region confirmed the exclusion of GABRB3 as a candidate gene for AS. 7810569 1994
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE The GABRB3/GABRA5 region appears, therefore, to be enriched for highly informative (CA)n. This set of closely spaced, short tandem repeat polymorphisms will be useful in the molecular analyses of Prader-Willi and Angelman syndromes and in high-resolution studies of genetic recombination within this region. 8188218 1994
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE Chromosomal rearrangement breakpoints--in one Angelman syndrome (AS) patient with an unbalanced translocation and in another patient with a submicroscopic deletion--are located within the large GABRB3 intron. 8389098 1993
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE Analysis of linkage of AS to GABRB3 in these three families, on the assumption of imprinted inheritance (i.e., penetrance of an AS mutation is 1 if transmitted maternally and is 0 if transmitted paternally), indicates a maximum lod score of 3.52 at theta = 0. 8317476 1993
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). 8094063 1993
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 Biomarker disease BEFREE FISH analysis on a previously reported case of familial AS confirmed a submicroscopic deletion including YACs corresponding to LS6-1, TD3-21 and GABRB3 and supports the separation of the PWS and AS critical regions. 1363801 1992
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.400 GeneticVariation disease BEFREE Deletion of this gene (GABRB3) was found in AS and PWS patients with interstitial cytogenetic deletions. 1714232 1991