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Details
Link-It Detail - Disease - Progressive intrahepatic cholestasis (disorder)
Debug Stats
  • ### Total Build Time: 6 ms 8.504 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 392 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 329 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=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 6.445 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.181 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Progressive intrahepatic cholestasis (disorder) C0268312
Definition (1)
A genetic syndrome affecting infants and children. It is characterized by chronic intrahepatic cholestasis usually progressing to cirrhosis within the first ten years of life.
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanNR1H49971nuclear receptor subfamily 1, group H, member 4
img GENERIF, Score=923, Pubmed Id: 14988830, UMLKSK CUI: C0268312
img GENERIF, Score=1000, Pubmed Id: 15317749, UMLKSK CUI: C0268312
HumanABCB45244ATP-binding cassette, sub-family B (MDR/TAP), member 4
img OMIM, Score=862, UMLKSK CUI: C0268312
img GENERIF, Score=852, Pubmed Id: 17726488, UMLKSK CUI: C0268312
HumanATP8B15205ATPase, aminophospholipid transporter, class I, type 8B, member 1
img GENERIF, Score=923, Pubmed Id: 14988830, UMLKSK CUI: C0268312
img OMIM, Score=862, UMLKSK CUI: C0268312
img GENERIF, Score=923, Pubmed Id: 15946126, UMLKSK CUI: C0268312
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268312Progressive intrahepatic cholestasis (disorder)0self