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Details
Link-It Detail - Disease - Familial Hemophagocytic Lymphocytosis
Debug Stats
  • ### Total Build Time: 14 ms 22.521 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 372 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 447 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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 20.376 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.171 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Familial Hemophagocytic Lymphocytosis C0272199
Definition (1)
A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly.
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanUNC13D201294unc-13 homolog D (C. elegans)
img GENERIF, Score=1000, Pubmed Id: 19131769, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 14622600, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 16778144, UMLKSK CUI: C0272199
img GENERIF, Score=694, Pubmed Id: 17993578, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 16278825, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 18492689, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 18432499, UMLKSK CUI: C0272199
HumanGNLY10578granulysin
img GENERIF, Score=1000, Pubmed Id: 12483306, UMLKSK CUI: C0272199
HumanUNC13B10497unc-13 homolog B (C. elegans)
img GENERIF, Score=884, Pubmed Id: 15466010, UMLKSK CUI: C0272199
HumanSTX118676syntaxin 11
img GENERIF, Score=668, Pubmed Id: 17525286, UMLKSK CUI: C0272199
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
img GENERIF, Score=1000, Pubmed Id: 18000860, UMLKSK CUI: C0272199
HumanRAB27A5873RAB27A, member RAS oncogene family
img GENERIF, Score=1000, Pubmed Id: 16278825, UMLKSK CUI: C0272199
HumanSRGN5552serglycin
img GENERIF, Score=1000, Pubmed Id: 18000860, UMLKSK CUI: C0272199
HumanPRF15551perforin 1 (pore forming protein)
img GENERIF, Score=756, Pubmed Id: 16611257, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 17627755, UMLKSK CUI: C0272199
img GENERIF, Score=884, Pubmed Id: 17873118, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 17674359, UMLKSK CUI: C0272199
img GENERIF, Score=1000, Pubmed Id: 17652853, UMLKSK CUI: C0272199
img GENERIF, Score=756, Pubmed Id: 15342365, UMLKSK CUI: C0272199
img GENERIF, Score=756, Pubmed Id: 17266056, UMLKSK CUI: C0272199
HumanSH2D1A4068SH2 domain containing 1A
img GENERIF, Score=1000, Pubmed Id: 18000860, UMLKSK CUI: C0272199
HumanLAMP13916lysosomal-associated membrane protein 1
img GENERIF, Score=1000, Pubmed Id: 16778144, UMLKSK CUI: C0272199
HumanARF6382ADP-ribosylation factor 6
img GENERIF, Score=1000, Pubmed Id: 18000860, UMLKSK CUI: C0272199
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0272199Familial Hemophagocytic Lymphocytosis0self