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: 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: 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: 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: 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: 7841
Gene Symbol: MOGS
MOGS
mannosyl-oligosaccharide glucosidase 0.642 0.483 6.8E-11
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 4 0 1973 2016
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.557 0.621 1.6E-17
Congenital Disorders of Glycosylation
group 0.500 strong 1.000 3 0 1993 2016
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: 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: 4351
Gene Symbol: MPI
MPI
mannose phosphate isomerase 0.656 0.345 7.6E-08
Congenital Disorders of Glycosylation
group 0.500 strong 0.909 1 0 1998 2015
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: 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: 10466
Gene Symbol: COG5
COG5
component of oligomeric golgi complex 5 0.752 0.241 1.2E-18
Congenital Disorders of Glycosylation
group 0.320 strong 1.000 5 0 2002 2018
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: 84342
Gene Symbol: COG8
COG8
component of oligomeric golgi complex 8 0.773 0.207 2.4E-08
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 3 0 2002 2014
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
ALG12, alpha-1,6-mannosyltransferase 0.799 0.207 1.4E-07
Congenital Disorders of Glycosylation
group 0.300 strong 3 0 2002 2016
Entrez Id: 57511
Gene Symbol: COG6
COG6
component of oligomeric golgi complex 6 0.685 0.379 5.1E-15
Congenital Disorders of Glycosylation
group 0.330 strong 1.000 2 0 2002 2016
Entrez Id: 22796
Gene Symbol: COG2
COG2
component of oligomeric golgi complex 2 0.785 0.172 7.0E-06
Congenital Disorders of Glycosylation
group 0.310 limited 1.000 2 0 2002 2016
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: 91949
Gene Symbol: COG7
COG7
component of oligomeric golgi complex 7 0.815 0.207 1.8E-07
Congenital Disorders of Glycosylation
group 0.330 strong 1.000 2 0 2002 2014
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: 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: 79053
Gene Symbol: ALG8
ALG8
ALG8, alpha-1,3-glucosyltransferase 0.815 0.241 5.2E-08
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 2 0 2003 2016
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: 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: 79796
Gene Symbol: ALG9
ALG9
ALG9, alpha-1,2-mannosyltransferase 0.681 0.448 8.3E-04
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 3 0 2004 2016