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: C0265222
Disease: Royer Syndrome
Royer Syndrome
0.300 Biomarker disease CTD_human Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013