abnormal isoelectric focusing of serum transferrin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. (Human Phenotype Ontology, HP_0003160)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003160
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Genes

20 genes associated with the abnormal isoelectric focusing of serum transferrin 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