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Details
Link-It Detail - Human Phenotype - Abnormal protein N-linked glycosylation
Debug Stats
  • ### Total Build Time: 23 ms 16.374 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 214 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 409 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= 451 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.866 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 1.166 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 11.115 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.033 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal protein N-linked glycosylation HP:0012347
Definition (1)
An anomaly of `protein N-linked glycosylation` (GO:0006487), i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.
Parents (1)
img Abnormal protein glycosylation HP:0012346
Children (5)
img Abnormal isoelectric focusing of serum transferrin HP:0003160
img Decreased galactosylation of N-linked protein glycosylation HP:0012348
img Abnormal fucosylation of protein N-linked glycosylation HP:0012352
img Abnormal sialylation of N-linked protein glycosylation HP:0012349
img Abnormal mannosylation of N-linked protein glycosylation HP:0012355
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormal protein glycosylation HP:0012346
Genes (21)

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

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0012347Abnormal protein N-linked glycosylation0self