Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.500 strong 0.982 0 0 1997 2020