Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. 26365340

2015
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Clinical phenotypes of MAGEL2 mutations and deletions. 24661356

2014
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 25473036

2014
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603

2013
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice. 21248145

2011
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. 19066619

2009
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice. 19172181

2009
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. 17728320

2007
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease. 11891783

2002
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Prader-Willi syndrome: consensus diagnostic criteria. 8424017

1993