Gene: MAGEL2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044883
rs797044883
MAGEL2
A 0.700 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603

2013
dbSNP: rs797044883
rs797044883
MAGEL2
A 0.700 CausalMutation CLINVAR Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. 17728320

2007
dbSNP: rs797044883
rs797044883
MAGEL2
A 0.700 CausalMutation CLINVAR A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. 19066619

2009
dbSNP: rs797044883
rs797044883
MAGEL2
A 0.700 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036

2014
dbSNP: rs797044883
rs797044883
MAGEL2
A 0.700 CausalMutation CLINVAR The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease. 11891783

2002