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Details
Link-It Detail - Human Phenotype - Abnormality of glycoprotein metabolism
Debug Stats
  • ### Total Build Time: 21 ms 18.181 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 213 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 265 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=4 ms Completed: 4 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.113 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 13.804 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of glycoprotein metabolism HP:0004367
Definition (1)
This category is meant to contain biochemical abnormalities indicative of abnormal protein sugar modifications.
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (3)
img Abnormality of proteoglycan metabolism HP:0004355
img Oligosacchariduria HP:0010471
img Reduced activity of N-acetylglucosaminyltransferase II HP:0003655
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (21)

Species:
human : 21
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanCDAN1146059codanin 1
img HP RolledUp, OMIM ID: 224120
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HumanSEC23B10483Sec23 homolog B (S. cerevisiae)
img HP RolledUp, OMIM ID: 224100
HumanSGSH6448N-sulfoglucosamine sulfohydrolase
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
img HP RolledUp, OMIM ID: 250250
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP RolledUp, OMIM ID: 309000
HumanNEU14758sialidase 1 (lysosomal sialidase)
img HP RolledUp, OMIM ID: 256550
HumanNAGLU4669N-acetylglucosaminidase, alpha
HumanMANBA4126mannosidase, beta A, lysosomal
img HP RolledUp, OMIM ID: 248510
HumanIDUA3425iduronidase, alpha-L-
img HP RolledUp, OMIM ID: 607016
img HP RolledUp, OMIM ID: 607014
HumanIDS3423iduronate 2-sulfatase
HumanHYAL13373hyaluronoglucosaminidase 1
HumanGUSB2990glucuronidase, beta
HumanGNS2799glucosamine (N-acetyl)-6-sulfatase
HumanGLB12720galactosidase, beta 1
img HP RolledUp, OMIM ID: 253010
HumanGALNS2588galactosamine (N-acetyl)-6-sulfate sulfatase
img HP RolledUp, OMIM ID: 253000
HumanFUCA12517fucosidase, alpha-L- 1, tissue
img HP RolledUp, OMIM ID: 230000
HumanARSB411arylsulfatase B
HumanACP554acid phosphatase 5, tartrate resistant
img HP RolledUp, OMIM ID: 607944
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004367Abnormality of glycoprotein metabolism0self