Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.030 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
0.030 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 1993
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.030 GeneticVariation disease BEFREE Deletion of this gene (GABRB3) was found in AS and PWS patients with interstitial cytogenetic deletions. 1714232 1991