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
Congenital Disorders of Glycosylation
group 0.500 strong 0.982 0 0 1997 2020
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
mannose-P-dolichol utilization defect 1 0.682 0.500 1.0E-05
Congenital Disorders of Glycosylation
group 0.320 strong 1.000 0 0 2001 2019
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
Congenital Disorders of Glycosylation
group 0.470 strong 1.000 0 0 2010 2019
Entrez Id: 7841
Gene Symbol: MOGS
MOGS
mannosyl-oligosaccharide glucosidase 0.626 0.731 5.8E-11
Congenital Disorders of Glycosylation
group 0.360 moderate 1.000 0 0 2002 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
Congenital Disorders of Glycosylation
group 0.390 strong 1.000 0 0 2013 2019
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
dolichol kinase 0.736 0.385 1.2E-03
Congenital Disorders of Glycosylation
group 0.330 strong 1.000 2 0 2011 2018
Entrez Id: 4351
Gene Symbol: MPI
MPI
mannose phosphate isomerase 0.585 0.654 1.2E-07
Congenital Disorders of Glycosylation
group 0.400 None 1.000 1 0 1998 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
Congenital Disorders of Glycosylation
group 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 8813
Gene Symbol: DPM1
DPM1
dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
Congenital Disorders of Glycosylation
group 0.330 strong 1.000 0 0 2000 2017
Entrez Id: 10559
Gene Symbol: SLC35A1
SLC35A1
solute carrier family 35 member A1 0.601 0.654 0.68
Congenital Disorders of Glycosylation
group 0.320 moderate 1.000 0 0 2013 2016