UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.130 Biomarker disease BEFREE This UBE3A-MLL4 regulatory axis provides a potential therapeutic venue for treating various MLL4-directed pathogeneses, including obesity and hepatic steatosis. 30230575 2019
CUI: C0028754
Disease: Obesity
Obesity
0.130 GeneticVariation disease BEFREE In contrast, no UBE3A mutation cases exhibited obesity or pre-obesity measures (percentiles ranged from <3% to 55%). 25402239 2015
CUI: C0028754
Disease: Obesity
Obesity
0.130 GeneticVariation disease BEFREE Eight out of 92 participants (6/13 (46%) with UPD/imprinting defects and 2/11 (18%) with UBE3A mutations) were obese. 21204213 2011
CUI: C0028754
Disease: Obesity
Obesity
0.130 Biomarker disease HPO