Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.350 Biomarker GENOMICS_ENGLAND Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC, recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene. 26365340

2015

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
0.350 Biomarker GENOMICS_ENGLAND Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 24076603

2013