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Details
Link-It Detail - Disease - Erythrocytosis
Debug Stats
  • ### Total Build Time: 30 ms 27.687 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 208 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=2 ms Completed: 2 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=5 ms Completed: 5 ms rowSize= 3.434 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 22.513 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Erythrocytosis C1527405
Definition (1)
Peripheral blood red cell count above the normal range
Relationships (7)

Relation Types:
diso_​to_​diso : 7


Relationships:
isa : 6
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Acquired polycythaemia C1318533
DISO_to_DISOpermuted_term_ofimg Erythrocytosis C1527405
DISO_to_DISOisaimg Erythrocytosis due to polycythaemia vera C1531879
DISO_to_DISOisaimg Familial erythrocytosis C0152264
DISO_to_DISOisaimg Haemoglobinopathy with erythrocytosis C0272089
DISO_to_DISOisaimg IE - Idiopathic erythrocytosis C0563642
DISO_to_DISOisaimg NEONATAL POLYCYTHEMIA SYNDROME C0272153
Genes (15)

Species:
human : 15
SpeciesGeneGeneIdGene NameEvidence
HumanEGLN154583egl-9 family hypoxia-inducible factor 1
img OMIM, Score=790, UMLKSK CUI: C1527405
img GENERIF, Score=1000, Pubmed Id: 17933562, UMLKSK CUI: C1527405
img OMIM, Score=1000, UMLKSK CUI: C1527405
img GENERIF, Score=861, Pubmed Id: 17579185, UMLKSK CUI: C1527405
HumanVHL7428von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
img OMIM, Score=790, UMLKSK CUI: C1527405
img OMIM, Score=1000, UMLKSK CUI: C1527405
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
img GAD, Score=833, Pubmed Id: 15013333, UMLKSK CUI: C1527405
HumanMPL4352myeloproliferative leukemia virus oncogene
img GENERIF, Score=1000, Pubmed Id: 17920755, UMLKSK CUI: C1527405
HumanJAK23717Janus kinase 2
img GENERIF, Score=1000, Pubmed Id: 17389763, UMLKSK CUI: C1527405
HumanHIF1A3091hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
img GENERIF, Score=1000, Pubmed Id: 17881647, UMLKSK CUI: C1527405
img GENERIF, Score=1000, Pubmed Id: 18184961, UMLKSK CUI: C1527405
HumanHBB3043hemoglobin, beta
img GENERIF, Score=1000, Pubmed Id: 14649314, UMLKSK CUI: C1527405
HumanHBA13039hemoglobin, alpha 1
img GENERIF, Score=1000, Pubmed Id: 14649314, UMLKSK CUI: C1527405
HumanEPOR2057erythropoietin receptor
img OMIM, Score=1000, UMLKSK CUI: C1527405
img GENERIF, Score=861, Pubmed Id: 18492694, UMLKSK CUI: C1527405
HumanEPO2056erythropoietin
img GENERIF, Score=827, Pubmed Id: 17652365, UMLKSK CUI: C1527405
HumanEPAS12034endothelial PAS domain protein 1
img GENERIF, Score=861, Pubmed Id: 18508787, UMLKSK CUI: C1527405
HumanACE1636angiotensin I converting enzyme
img GENERIF, Score=861, Pubmed Id: 18339134, UMLKSK CUI: C1527405
img GAD, Score=833, Pubmed Id: 15013333, UMLKSK CUI: C1527405
img GENERIF, Score=827, Pubmed Id: 15848608, UMLKSK CUI: C1527405
img GENERIF, Score=861, Pubmed Id: 15013333, UMLKSK CUI: C1527405
HumanAGTR2186angiotensin II receptor, type 2
img GAD, Score=833, Pubmed Id: 15013333, UMLKSK CUI: C1527405
HumanAGTR1185angiotensin II receptor, type 1
img GAD, Score=833, Pubmed Id: 15013333, UMLKSK CUI: C1527405
HumanAGT183angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
img GAD, Score=833, Pubmed Id: 15013333, UMLKSK CUI: C1527405
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1527405Erythrocytosis0self