abnormal glycosylation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. (Human Phenotype Ontology, HP_0012345)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012345
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Genes

20 genes associated with the abnormal glycosylation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
COG1 component of oligomeric golgi complex 1
COG5 component of oligomeric golgi complex 5
COG6 component of oligomeric golgi complex 6
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPI mannose phosphate isomerase
PGM1 phosphoglucomutase 1
PMM2 phosphomannomutase 2
RFT1 RFT1 homolog (S. cerevisiae)
SRD5A3 steroid 5 alpha-reductase 3
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