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: 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
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 AlteredExpression disease BEFREE MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. 29359444 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE We tested whether chronic diazoxide administration can reduce fat mass and improve metabolism in mice lacking MAGEL2, a gene inactivated in PWS. 29506955 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 GeneticVariation disease BEFREE Genetic underpinning of PWS involves deletion of a chromosomal region with several genes, including MAGEL2, which is abundantly expressed in the hypothalamus. 29878108 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 GeneticVariation disease BEFREE Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. 30343463 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease GENOMICS_ENGLAND Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. 29588991 2018
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE In the present study, we investigated whether OEA contributes to feeding dysregulation in Magel2<sup>m+/p-</sup> (Magel2 KO) mice, an animal model of PWS. 28007570 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 GeneticVariation disease BEFREE Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG) (OMIM #615547), a neurodevelopmental disorder related to PWS. 28296079 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE This review provides an overview of the MAGE protein family of ubiquitin ligases regulators and details the molecular and cellular role of MAGEL2 in ubiquitination, actin regulation and endosomal sorting processes, as well as MAGEL2 implications in PWS and SHFYNG disorders. 28626083 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways. 28973533 2017
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE Gene-targeted mice lacking Magel2 have excess fat and decreased muscle, recapitulating altered body composition in Prader-Willi syndrome. 27436578 2016
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease MGD Gene-targeted mice lacking Magel2 have excess fat and decreased muscle, recapitulating altered body composition in Prader-Willi syndrome. 27436578 2016
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE De novo inactivating mutations in one PWS candidate gene, MAGEL2, have been identified in children with features of PWS. 25926624 2015
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC, recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene. 26365340 2015
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype. 24076603 2013
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease CTD_human These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype. 24076603 2013
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS. 19066619 2009
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease MGD Our results suggest that loss of MAGEL2 contributes to the reproductive deficits seen in people with PWS, and further highlights the role of normal circadian rhythm in the maintenance of fertility. 19172181 2009
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 Biomarker disease BEFREE Four protein-encoding genes (MKRN3, MAGEL2, NDN and SNURF-SNRPN) and several small nucleolar (sno) RNA genes (HBII-13, HBII-436, HBII-85, HBII-438A, HBII-438B and HBII-52) are expressed from the paternal chromosome only but their contribution to PWS is unclear. 15565282 2005
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 GeneticVariation disease BEFREE Evaluation of Prader-Willi Syndrome gene MAGEL2 in severe childhood-onset obesity. 16286533 2005
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
0.900 GeneticVariation disease BEFREE We further suggest that loss of necdin contributes to the neurological phenotype of PWS, and raise the possibility that co-deletion of necdin and the related protein Magel2 may explain the lack of single gene mutations in PWS. 15649943 2005