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Details
Link-It Detail - Disease - Congenital neutropenia
Debug Stats
  • ### Total Build Time: 16 ms 22.295 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 269 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=4 ms Completed: 4 ms rowSize= 4.452 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 16.020 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital neutropenia C0340970
Definition (1)
A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.
Relationships (7)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 4


Relationships:
expanded_​form_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_associated_anatomic_site_ofimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_DISOisaimg ALEUKOCYTOSIS C0272167
DISO_to_DISOexpanded_form_ofimg Congenital neutropenia C0340970
DISO_to_DISOisaimg Severe combined immunodefiency with reticular dysgenesis C0451692
DISO_to_DISOisaimg Shwachman syndrome C0272170
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanG6PC392579glucose 6 phosphatase, catalytic, 3
img GENERIF, Score=756, Pubmed Id: 19118303, UMLKSK CUI: C0340970
HumanLEF151176lymphoid enhancer-binding factor 1
img GENERIF, Score=1000, Pubmed Id: 17063141, UMLKSK CUI: C0340970
HumanHAX110456HCLS1 associated protein X-1
img GENERIF, Score=717, Pubmed Id: 18611981, UMLKSK CUI: C0340970
img GENERIF, Score=1000, Pubmed Id: 18399350, UMLKSK CUI: C0340970
img GENERIF, Score=884, Pubmed Id: 17187068, UMLKSK CUI: C0340970
img GENERIF, Score=1000, Pubmed Id: 18330843, UMLKSK CUI: C0340970
img GENERIF, Score=734, Pubmed Id: 18513342, UMLKSK CUI: C0340970
HumanWAS7454Wiskott-Aldrich syndrome
img OMIM, Score=844, UMLKSK CUI: C0340970
img OMIM, Score=1000, UMLKSK CUI: C0340970
img GENERIF, Score=1000, Pubmed Id: 16804117, UMLKSK CUI: C0340970
HumanELANE1991elastase, neutrophil expressed
img GENERIF, Score=756, Pubmed Id: 18028488, UMLKSK CUI: C0340970
img GENERIF, Score=1000, Pubmed Id: 14962902, UMLKSK CUI: C0340970
img GENERIF, Score=756, Pubmed Id: 15657182, UMLKSK CUI: C0340970
HumanCSF3R1441colony stimulating factor 3 receptor (granulocyte)
img GENERIF, Score=734, Pubmed Id: 18536571, UMLKSK CUI: C0340970
img GENERIF, Score=1000, Pubmed Id: 11714811, UMLKSK CUI: C0340970
img GENERIF, Score=1000, Pubmed Id: 12422946, UMLKSK CUI: C0340970
HumanCAMP820cathelicidin antimicrobial peptide
img GENERIF, Score=1000, Pubmed Id: 18703682, UMLKSK CUI: C0340970
HumanBCL2596B-cell CLL/lymphoma 2
img GENERIF, Score=1000, Pubmed Id: 14764541, UMLKSK CUI: C0340970
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0340970Congenital neutropenia0self