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Details
Link-It Detail - Human Phenotype - Abnormal isoelectric focusing of serum transferrin
Debug Stats
  • ### Total Build Time: 30 ms 22.775 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 225 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 567 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 800 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 795 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.113 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 17.143 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.044 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal isoelectric focusing of serum transferrin HP:0003160
Definition (1)
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.
Parents (2)
img Abnormality of metabolism/homeostasis HP:0001939
img Abnormal protein N-linked glycosylation HP:0012347
Children (2)
img Type I transferrin isoform profile HP:0003642
img Type II transferrin isoform profile HP:0012301
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormal protein N-linked glycosylation HP:0012347
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanALG11440138ALG11, alpha-1,2-mannosyltransferase
img HP RolledUp, OMIM ID: 613661
HumanRFT191869RFT1 homolog (S. cerevisiae)
img HP TAS, OMIM ID: 612015
HumanALG1379868ALG13, UDP-N-acetylglucosaminyltransferase subunit
img HP RolledUp, OMIM ID: 300884
HumanSRD5A379644steroid 5 alpha-reductase 3
img HP RolledUp, OMIM ID: 612379
HumanCOG657511component of oligomeric golgi complex 6
img HP RolledUp, OMIM ID: 614576
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
img HP RolledUp, OMIM ID: 608540
HumanDPM354344dolichyl-phosphate mannosyltransferase polypeptide 3
img HP RolledUp, OMIM ID: 612937
HumanALG629929ALG6, alpha-1,3-glucosyltransferase
img HP RolledUp, OMIM ID: 603147
HumanATP6V0A223545ATPase, H+ transporting, lysosomal V0 subunit a2
img HP IEA, OMIM ID: 219200
HumanRTF123168Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
img HP TAS, OMIM ID: 612015
HumanDOLK22845dolichol kinase
img HP IEA, OMIM ID: 610768
HumanCOG510466component of oligomeric golgi complex 5
img HP RolledUp, OMIM ID: 613612
HumanALG310195ALG3, alpha-1,3- mannosyltransferase
img HP RolledUp, OMIM ID: 601110
HumanCOG19382component of oligomeric golgi complex 1
img HP TAS, OMIM ID: 611209
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
img HP RolledUp, OMIM ID: 608799
HumanPMM25373phosphomannomutase 2
img HP RolledUp, OMIM ID: 212065
HumanPGM15236phosphoglucomutase 1
img HP RolledUp, OMIM ID: 614921
HumanMPI4351mannose phosphate isomerase
img HP RolledUp, OMIM ID: 602579
HumanMGAT24247mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
img HP IEA, OMIM ID: 212066
HumanDPAGT11798dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
img HP RolledUp, OMIM ID: 608093
HumanDDOST1650dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
img HP RolledUp, OMIM ID: 614507
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0003160Abnormal isoelectric focusing of serum transferrin0self