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: 79947
Gene Symbol: DHDDS
DHDDS
dehydrodolichyl diphosphate synthase subunit 0.514 0.724 0.27
Congenital Disorders of Glycosylation
group 0.300 limited 3 0 2011 2017
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
fukutin related protein 0.514 0.586 6.3E-05
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2016 2016
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
fukutin 0.522 0.586 7.7E-07
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2016 2016
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2016 2016
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: 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: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.557 0.483 8.5E-20
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2016 2016
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: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.558 0.552 1.4E-11
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2016 2016
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.559 0.552 2.5E-17
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2016 2016
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: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.580 0.621
Congenital Disorders of Glycosylation
group 0.300 strong 2 0 2006 2015
Entrez Id: 729920
Gene Symbol: ISPD
ISPD
isoprenoid synthase domain containing 0.582 0.483 9.0E-04
Congenital Disorders of Glycosylation
group 0.300 strong 2 0 2015 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: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.590 0.552 0.96
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2015 2015
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: 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: 2744
Gene Symbol: GLS
GLS
glutaminase 0.607 0.621 0.96
Congenital Disorders of Glycosylation
group 0.300 limited 1 0 2016 2016
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2 0.607 0.379 2.3E-07
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2013 2013
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
phosphatidylinositol glycan anchor biosynthesis class N 0.614 0.621 4.3E-18
Congenital Disorders of Glycosylation
group 0.300 strong 2 0 2011 2016
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.624 0.517 1.6E-16
Congenital Disorders of Glycosylation
group 0.300 strong 1 0 2016 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: 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: 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: 126792
Gene Symbol: B3GALT6
B3GALT6
beta-1,3-galactosyltransferase 6 0.630 0.517 2.1E-02
Congenital Disorders of Glycosylation
group 0.300 strong 2 0 2014 2014