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: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.700 None 1.000 4 0 2008 2016
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1 		solute carrier family 35 member A1 0.601 0.654 0.68
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 moderate 1.000 1 0 2005 2005
Entrez Id: 22845
Gene Symbol: DOLK
DOLK 		dolichol kinase 0.736 0.385 1.2E-03
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 4351
Gene Symbol: MPI
MPI 		mannose phosphate isomerase 0.585 0.654 1.2E-07
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 strong 1.000 1 0 1986 1986
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 strong 1.000 1 0 2000 2000
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
Entrez Id: 7841
Gene Symbol: MOGS
MOGS 		mannosyl-oligosaccharide glucosidase 0.626 0.731 5.8E-11
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 moderate 0 0