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Details
Link-It Detail - Disease - Cafe-au-lait macules with pulmonary stenosis
Debug Stats
  • ### Total Build Time: 25 ms 5.308 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 386 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 341 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=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=3 ms Completed: 3 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 3.246 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.178 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cafe-au-lait macules with pulmonary stenosis C0553586
Definition (1)
A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1).
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img GENERIF, Score=1000, Pubmed Id: 17020470, UMLKSK CUI: C0553586
HumanNF14763neurofibromin 1
img GENERIF, Score=1000, Pubmed Id: 12707950, UMLKSK CUI: C0553586
img GENERIF, Score=845, Pubmed Id: 16380919, UMLKSK CUI: C0553586
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0553586Cafe-au-lait macules with pulmonary stenosis0self