MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.140 GeneticVariation disease BEFREE Patients with MAGEL2 variants shared several features with PWS, such as neonatal hypotonia, poor suck, and obesity; however, there were also unique features, including arthrogryposis and a failure to acquire meaningful words. 31791363 2019
CUI: C0028754
Disease: Obesity
Obesity
0.140 GeneticVariation disease BEFREE The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation. 30238631 2018
CUI: C0028754
Disease: Obesity
Obesity
0.140 Biomarker disease BEFREE Loss of MAGEL2 and necdin may uncouple LepR from ubiquitination pathways, providing a cellular mechanism for obesity in PWS. 28973533 2017
CUI: C0028754
Disease: Obesity
Obesity
0.140 Biomarker disease BEFREE This neural defect, together with increased fat mass, blunted circadian rhythm, and growth hormone response pathway defects that are also linked to loss of MAGEL2, could contribute to the hyperphagia and obesity that are hallmarks of this disorder. 23341784 2013
CUI: C0028754
Disease: Obesity
Obesity
0.140 Biomarker disease HPO