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Details
Link-It Detail - Disease - Familial erythrocytosis
Debug Stats
  • ### Total Build Time: 5 ms 10.110 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 344 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=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=2 ms Completed: 2 ms rowSize= 6.145 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 2.402 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Familial erythrocytosis C0152264
Relationships (10)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 5
diso_​to_​gene : 2


Relationships:
classifies : 1
gene_​associated_​with_​disease : 2
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 2
mapped_​to : 2
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_DISOmapped_toimg Familial erythrocytosis C0152264
DISO_to_DISOisaimg Familial erythrocytosis due to diphosphoglycerate mutase deficiency C1264015
DISO_to_DISOmapped_toimg Familial polycythaemia vera C1264016
DISO_to_DISOisaimg High oxygen affinity hemoglobin polycythemia C0272154
DISO_to_DISOclassifiesimg Other hematologic conditions C0809980
DISO_to_GENEgene_associated_with_diseaseimg EPOR gene C1333342
DISO_to_GENEgene_associated_with_diseaseimg EPOR wt Allele C1707860
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanJAK23717Janus kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0152264
HumanEPOR2057erythropoietin receptor
img GAD, Score=1000, Pubmed Id: 9192789, UMLKSK CUI: C0152264
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0152264Familial erythrocytosis0self