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 0.557 0.621 1.6E-17
Congenital Disorders of Glycosylation
group 0.500 strong 1.000 3 0 1993 2016
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: 55858
Gene Symbol: TMEM165
TMEM165
transmembrane protein 165 0.762 0.241 0.28
Congenital Disorders of Glycosylation
group 0.360 strong 1.000 2 0 2012 2017
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: 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: 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: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.636 0.448 0.66
Congenital Disorders of Glycosylation
group 0.320 moderate 1.000 3 0 2013 2017
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 0.630 0.483 1.3E-05
Congenital Disorders of Glycosylation
group 0.320 strong 1.000 2 0 2004 2017
Entrez Id: 91869
Gene Symbol: RFT1
RFT1
RFT1 homolog 0.690 0.448 5.3E-13
Congenital Disorders of Glycosylation
group 0.320 strong 1.000 1 0 2009 2013
Entrez Id: 3703
Gene Symbol: STT3A
STT3A
STT3A, catalytic subunit of the oligosaccharyltransferase complex 0.735 0.310 1.4E-03
Congenital Disorders of Glycosylation
group 0.320 moderate 1.000 1 0 2014 2017
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: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.652 0.414 1.6E-04
Congenital Disorders of Glycosylation
group 0.320 strong 1.000 1 0 2010 2017
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: 7991
Gene Symbol: TUSC3
TUSC3
tumor suppressor candidate 3 0.659 0.414 3.3E-06
Congenital Disorders of Glycosylation
group 0.310 strong < 0.001 4 0 2008 2017
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
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: 10195
Gene Symbol: ALG3
ALG3
ALG3, alpha-1,3- mannosyltransferase 0.676 0.345 1.6E-10
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 2 0 2004 2014
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
ALG11, alpha-1,2-mannosyltransferase 0.815 0.172 9.3E-09
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 2 0 2012 2016
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: 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: 84061
Gene Symbol: MAGT1
MAGT1
magnesium transporter 1 0.600 0.586 0.97
Congenital Disorders of Glycosylation
group 0.310 limited < 0.001 2 0 2011 2016
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
solute carrier family 39 member 8 0.667 0.483 0.67
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 2 0 2016 2017
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: 11253
Gene Symbol: MAN1B1
MAN1B1
mannosidase alpha class 1B member 1 0.713 0.310 1.3E-08
Congenital Disorders of Glycosylation
group 0.310 strong 1.000 1 0 2014 2014