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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 GeneticVariation disease BEFREE MAGEL2 mutations, first reported to be the cause of the Prader-Willi like syndrome with autism by Schaaf et al. 29359444 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker disease BEFREE Duplication of paternally expressed genes MKRN3, MAGEL2 and NDN in two autistic patients without extra material of a neighboring region enhances their likelihood to be genes related to autism. 24239951 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 GeneticVariation disease BEFREE Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker disease CTD_human Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603 2013