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 Biomarker disease BEFREE NDNL2/MAGE-G is a member of a large gene family that includes the X-linked MAGE cluster, MAGED1 (NRAGE), MAGEL2 and NDN, where the latter two genes are implicated in Prader-Willi syndrome. 11782285 2001
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 Biomarker disease BEFREE Five imprinted, paternally expressed genes map to the PWS region, MKRN3 (ref.3), NDN (ref.4), NDNL1 (ref.5), SNRPN (refs 6-8 ) and IPW (ref. 10802660 2000
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 Biomarker disease BEFREE We hypothesize that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS. 10915770 2000
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 AlteredExpression disease BEFREE Moreover, MAGEL2 / Magel2 are expressed only from the paternal allele in brain, suggesting a potential role in the aetiology of PWS and its mouse model, respectively. 10556298 1999
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.900 CausalMutation disease CLINVAR