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Details
Link-It Detail - Human Phenotype - Abnormality of glycosaminoglycan metabolism
Debug Stats
  • ### Total Build Time: 38 ms 21.655 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 218 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 214 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=1 ms Completed: 1 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= 801 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 1.104 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.114 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=25 ms Completed: 25 ms rowSize= 16.052 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.037 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of glycosaminoglycan metabolism HP:0004371
Definition (1)
Abnormality of `glycosaminoglycan` (CHEBI:18085) metabolism.
Parents (2)
img Abnormality of metabolism/homeostasis HP:0001939
img Abnormality of polysaccharide metabolism HP:0011012
Children (3)
img Abnormality of mucopolysaccharide metabolism HP:0011020
img Urinary glycosaminoglycan excretion HP:0003541
img Mucopolysacchariduria HP:0003567
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:00001186img Abnormality of polysaccharide metabolism HP:0011012
Genes (70)

Species:
human : 70
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanRAB40AL282808RAB40A, member RAS oncogene family-like
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
img HP RolledUp, OMIM ID: 252930
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img HP RolledUp, OMIM ID: 252605
HumanPALB279728partner and localizer of BRCA2
img HP RolledUp, OMIM ID: 610832
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252500
img HP RolledUp, OMIM ID: 252600
HumanNOD264127nucleotide-binding oligomerization domain containing 2
HumanTRPV459341transient receptor potential cation channel, subfamily V, member 4
img HP RolledUp, OMIM ID: 184095
HumanMCOLN157192mucolipin 1
img HP RolledUp, OMIM ID: 252650
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
HumanCOQ957017coenzyme Q9 homolog (S. cerevisiae)
HumanADCK356997aarF domain containing kinase 3
HumanBTNL256244butyrophilin-like 2 (MHC class II associated)
HumanLMBRD155788LMBR1 domain containing 1
HumanNHP255651NHP2 ribonucleoprotein
HumanNOP1055505NOP10 ribonucleoprotein
HumanWRAP5355135WD repeat containing, antisense to TP53
HumanAPTX54840aprataxin
HumanSBDS51119Shwachman-Bodian-Diamond syndrome
HumanOSTM128962osteopetrosis associated transmembrane protein 1
HumanCOQ227235coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004371Abnormality of glycosaminoglycan metabolism0self