MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
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 		0.900 GeneticVariation disease BEFREE Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). 31397880 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE We discover that both parental alleles of the imprinted Prader-Willi syndrome gene Magel2 are functional in mice but regulate different modules. 31412249 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 Biomarker disease BEFREE Taken together, Magel2 plays a key role in modulating bone remodeling and mass in PWS by affecting OS levels and activity. 30347474 2019
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 GeneticVariation disease BEFREE Pathogenic variants in the paternal copy of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG), a neurodevelopmental disorder related to Prader-Willi syndrome (PWS). 31685878 2019