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GATACA
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Details
Link-It Detail - Disease - ACROCYANOSIS
Debug Stats
  • ### Total Build Time: 49 ms 8.470 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 319 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=13 ms Completed: 13 ms rowSize= 1.104 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 5.522 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ACROCYANOSIS C0221347
Definition (1)
Persistent, symmetric, and painless blue discoloration of the extremities. It is the result of vasospasm in response to cold. The affected areas are cold and sweaty.
Relationships (1)

Relation Types:
diso_​to_​diso : 1


Relationships:
isa : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Neonatal Acrocyanosis C0456013
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanTREX111277three prime repair exonuclease 1
img OMIM, Score=1000, UMLKSK CUI: C0221347
HumanIKBKAP8518inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
img OMIM, Score=1000, UMLKSK CUI: C0221347
HumanTHPO7066thrombopoietin
img OMIM, Score=1000, UMLKSK CUI: C0221347
HumanMPL4352myeloproliferative leukemia virus oncogene
img OMIM, Score=1000, UMLKSK CUI: C0221347
HumanJAK23717Janus kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0221347
HumanAGXT189alanine-glyoxylate aminotransferase
img OMIM, Score=1000, UMLKSK CUI: C0221347
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221347ACROCYANOSIS0self