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: 9382
Gene Symbol: COG1
COG1
component of oligomeric golgi complex 1 0.735 0.414 2.9E-07
Congenital Disorders of Glycosylation
group 0.300 strong 0 0
Entrez Id: 790
Gene Symbol: CAD
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 0.557 0.655 1.00
Congenital Disorders of Glycosylation
group 0.300 limited 0 0
Entrez Id: 116150
Gene Symbol: NUS1
NUS1
NUS1, dehydrodolichyl diphosphate synthase subunit 0.713 0.379 0.98
Congenital Disorders of Glycosylation
group 0.300 limited 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.815 0.207 1.3E-13
Congenital Disorders of Glycosylation
group 0.300 strong 0 0
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.584 0.621 2.7E-11
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 1993 1993
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
mannose-P-dolichol utilization defect 1 0.713 0.379 7.5E-06
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 1 0 2002 2002
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
exostosin glycosyltransferase 1 0.577 0.655 1.00
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2003 2003
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
exostosin glycosyltransferase 2 0.627 0.483 1.3E-09
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2003 2003
Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1
solute carrier family 35 member C1 0.773 0.414 0.10
Congenital Disorders of Glycosylation
group 0.300 strong 2 0 2001 2004
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
polypeptide N-acetylgalactosaminyltransferase 3 0.627 0.586 6.5E-09
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2004 2004
Entrez Id: 3955
Gene Symbol: LFNG
LFNG
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 0.799 0.138 9.5E-02
Congenital Disorders of Glycosylation
group 0.300 limited 1 0 2006 2006
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
carbohydrate sulfotransferase 6 0.785 0.172 2.5E-08
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2006 2006
Entrez Id: 23169
Gene Symbol: SLC35D1
SLC35D1
solute carrier family 35 member D1 0.727 0.345 3.9E-04
Congenital Disorders of Glycosylation
group 0.300 strong 2 0 2008 2009
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
dolichyl-phosphate mannosyltransferase subunit 3 0.815 0.241 0.23
Congenital Disorders of Glycosylation
group 0.310 limited 1.000 1 0 2009 2009
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 0.642 0.414 3.0E-02
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 1 0 1996 2009
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
carbohydrate sulfotransferase 3 0.534 0.690 8.5E-03
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2010 2010
Entrez Id: 29929
Gene Symbol: ALG6
ALG6
ALG6, alpha-1,3-glucosyltransferase 0.785 0.207 5.4E-03
Congenital Disorders of Glycosylation
group 0.320 strong 1.000 1 0 1999 2010
Entrez Id: 25839
Gene Symbol: COG4
COG4
component of oligomeric golgi complex 4 0.720 0.276 2.9E-09
Congenital Disorders of Glycosylation
group 0.300 strong 4 0 2002 2011
Entrez Id: 2683
Gene Symbol: B4GALT1
B4GALT1
beta-1,4-galactosyltransferase 1 0.773 0.172 4.2E-02
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 2 0 2002 2011
Entrez Id: 1650
Gene Symbol: DDOST
DDOST
dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit 0.713 0.552 7.0E-04
Congenital Disorders of Glycosylation
group 0.310 limited 1.000 1 0 2012 2012
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
phosphatidylinositol glycan anchor biosynthesis class L 0.636 0.621 6.9E-09
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2012 2012
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
Sec23 homolog B, coat complex II component 0.596 0.517 7.3E-20
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2012 2012
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
ALG2, alpha-1,3/1,6-mannosyltransferase 0.676 0.310 7.6E-05
Congenital Disorders of Glycosylation
group 0.300 limited 2 0 2003 2013
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.701 0.345 2.0E-03
Congenital Disorders of Glycosylation
group 0.300 moderate 2 0 2011 2013
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
post-GPI attachment to proteins 2 0.834 0.207 0.94
Congenital Disorders of Glycosylation
group 0.300 strong 2 0 2013 2013