congenital disorder of glycosylation Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. (Human Disease Ontology, DOID_5212)
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Genes

80 genes co-occuring with the disease congenital disorder of glycosylation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
PMM2 phosphomannomutase 2 3.24956
ALG6 ALG6, alpha-1,3-glucosyltransferase 2.56444
MPI mannose phosphate isomerase 2.22606
TF transferrin 2.13516
PMM1 phosphomannomutase 1 2.12269
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 1.99271
MPDU1 mannose-P-dolichol utilization defect 1 1.97924
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 1.915
COG7 component of oligomeric golgi complex 7 1.86827
ALG3 ALG3, alpha-1,3- mannosyltransferase 1.79841
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 1.72365
TMEM165 transmembrane protein 165 1.66149
ALG12 ALG12, alpha-1,6-mannosyltransferase 1.54009
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 1.52512
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 1.51809
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 1.43771
MAN1B1 mannosidase, alpha, class 1B, member 1 1.41271
COG5 component of oligomeric golgi complex 5 1.37294
ALG5 ALG5, dolichyl-phosphate beta-glucosyltransferase 1.36597
COG1 component of oligomeric golgi complex 1 1.35594
SRD5A3 steroid 5 alpha-reductase 3 1.34156
MOGS mannosyl-oligosaccharide glucosidase 1.32629
COG8 component of oligomeric golgi complex 8 1.29221
B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 1.19532
ALG11 ALG11, alpha-1,2-mannosyltransferase 1.18841
ALG8 ALG8, alpha-1,3-glucosyltransferase 1.16821
B3GALTL beta 1,3-galactosyltransferase-like 1.16692
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 1.12741
PGAP2 post-GPI attachment to proteins 2 1.01469
SSR4 signal sequence receptor, delta 0.994861
DOLK dolichol kinase 0.968761
PGM3 phosphoglucomutase 3 0.920085
COG4 component of oligomeric golgi complex 4 0.904854
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 0.890898
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.858952
PGAP3 post-GPI attachment to proteins 3 0.832738
LCMT2 leucine carboxyl methyltransferase 2 0.811001
POFUT1 protein O-fucosyltransferase 1 0.801974
ADGRL1 adhesion G protein-coupled receptor L1 0.778613
KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 0.738271
GMDS GDP-mannose 4,6-dehydratase 0.693499
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 0.652089
MGAT4C MGAT4 family, member C 0.641433
PGM1 phosphoglucomutase 1 0.619442
CANX calnexin 0.595623
HP haptoglobin 0.587833
HPR haptoglobin-related protein 0.581606
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.579272
ENGASE endo-beta-N-acetylglucosaminidase 0.575383
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 0.561781
VRK1 vaccinia related kinase 1 0.561004
GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 0.556344
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 0.552075
LEMD3 LEM domain containing 3 0.540442
MANBA mannosidase, beta A, lysosomal 0.521502
GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 0.508041
INSC inscuteable homolog (Drosophila) 0.485125
PTGDS prostaglandin D2 synthase 21kDa (brain) 0.438282
ADAMTSL1 ADAMTS-like 1 0.430768
APOC3 apolipoprotein C-III 0.426265
DCN decorin 0.401572
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.397471
NOTCH1 notch 1 0.388538
ALG9 ALG9, alpha-1,2-mannosyltransferase 0.37629
ASPN asporin 0.341639
SEC23B Sec23 homolog B (S. cerevisiae) 0.338707
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 0.334681
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 0.331391
TMEM11 transmembrane protein 11 0.318635
HK1 hexokinase 1 0.295492
VLDLR very low density lipoprotein receptor 0.283297
PROS1 protein S (alpha) 0.279367
CFP complement factor properdin 0.250311
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.246098
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 0.204263
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.197742
CTSA cathepsin A 0.176757
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 0.170054
BGN biglycan 0.165217
CP ceruloplasmin (ferroxidase) 0.144181