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Details
Link-It Detail - Disease - Factor V Leiden Mutation
Debug Stats
  • ### Total Build Time: 21 ms 5.438 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 347 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=3 ms Completed: 3 ms rowSize= 1.479 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.055 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Factor V Leiden Mutation C0584960
Definition (1)
An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage.
Relationships (2)

Relation Types:
diso_​to_​diso : 2


Relationships:
isa : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Heterozygous Factor V Leiden mutation C0584984
DISO_to_DISOisaimg Homozygous Factor V Leiden mutation C0584983
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanJAK23717Janus kinase 2
img GENERIF, Score=988, Pubmed Id: 17849060, UMLKSK CUI: C0584960
HumanF52153coagulation factor V (proaccelerin, labile factor)
Click here to display 32 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0584960Factor V Leiden Mutation0self