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Details
Link-It Detail - Disease - GOUT, HPRT-RELATED
Debug Stats
  • ### Total Build Time: 38 ms 9.312 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 5.581 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 2.183 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
GOUT, HPRT-RELATED C0268117
Relationships (11)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 10


Relationships:
alias_​of : 1
associated_​with : 2
inheritance_​type_​of : 1
manifestation_​of : 7
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMassociated_withimg Hypoxanthine Phosphoribosyltransferase C0020687
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Caused by mutation in the hypoxanthine phosphoribosyltransferase gene (HPRT1, 308000.0001) C2678153
DISO_to_DISOalias_ofimg GOUT, HPRT-RELATED C0268117
DISO_to_DISOmanifestation_ofimg Gout C0018099
DISO_to_DISOmanifestation_ofimg Hyperuricemia C0740394
DISO_to_DISOmanifestation_ofimg Hyperuricosuria C0948643
DISO_to_DISOmanifestation_ofimg Kidney Failure C0035078
DISO_to_DISOmanifestation_ofimg Nephrolithiasis C0392525
DISO_to_DISOmanifestation_ofimg Partial deficiency of hypoxanthine phosphoribosyltransferase (HPRT, 78% activity) C1845891
DISO_to_DISOinheritance_type_ofimg X- linked recessive C1845977
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanHPRT13251hypoxanthine phosphoribosyltransferase 1
img GENERIF, Score=756, Pubmed Id: 16240158, UMLKSK CUI: C0268117
img GENERIF, Score=923, Pubmed Id: 11891689, UMLKSK CUI: C0268117
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268117GOUT, HPRT-RELATED0self