Disease: Prader-Willi Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 Biomarker disease BEFREE We characterized an Argentinean population, using five microsatellite markers (D15S1035, D15S11, D15S113, GABRB3, D15S211) chosen to develop an appropriate cost-effective method to establish the parental origin of chromosome 15 in nondeleted PWS patients. 16819717 2006
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 GeneticVariation disease BEFREE Deletion of SNRPN,TYAC 9 (at 15q11-12), TYAC19 (at 15q13) and GABRB3 (within the PWS locus), was evident on the derivative (22) chromosome, while TYAC10 (at 15q22), cos15-5 (at 15q22) and PML (15q22) were not deleted. 11164193 2001
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 GeneticVariation disease BEFREE Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus.A niece (B.B.) with 45 chromosomes and the derivative 3 but without the der(15) demonstrated a phenotype consistent with that reported for haploinsufficiency of distal 3 p. Uniparental disomy associated with unbalanced segregation of non-Robertsonian translocations has been reported previously but has not, to our knowledge, been observed in a case of PWS. 9674903 1998
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 Biomarker disease BEFREE Four additional cases were confirmed by fluorescence in situ hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [Prader-Willi syndrome (PWS)/AS region probes] (group II). 9044396 1997
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 Biomarker 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 Biomarker disease BEFREE The gamma-aminobutyric acid (GABAA) receptor beta 3 (GABRB3) and alpha 5 (GABRA5) subunit genes have been localized to the Angelman and Prader-Willi syndrome region of chromosome 15q11-q13. 8188218 1994
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.100 GeneticVariation disease BEFREE Deletion of this gene (GABRB3) was found in AS and PWS patients with interstitial cytogenetic deletions. 1714232 1991