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: C1836669
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If 		disease 0.730 strong 1.000 3 0 2001 2016
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1 		mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 strong 1.000 1 0 2001 2001
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
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1 		mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 strong 1.000 1 0 2001 2001