Source: BEFREE ×
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 Biomarker disease BEFREE Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome. 30988409 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.030 AlteredExpression disease BEFREE These data also suggest that a boundary element lying within the PWS critical region prevents UBE3A-ATS expression in non-neural tissues. 24363065 2014
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.030 AlteredExpression disease BEFREE The mice showed partial activation of paternal Ube3a, with decreased expression of Ube3a-ATS but not any imprinting defects in the Prader-Willi syndrome/Angelman syndrome region. 22493002 2012