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: 9526
Gene Symbol: MPDU1
MPDU1 		mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.320 strong 1.000 0 0 2001 2019