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Details
Link-It Detail - Disease - Channelopathies
Debug Stats
  • ### Total Build Time: 68 ms 12.076 KB
  • CONCEPT_NAME gt=10 ms Completed: 9 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 306 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= 188 bytes
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  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.530 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 5.785 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 2.230 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Channelopathies C1720983
Definition (1)
A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Pathologic Processes C0030660
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306603img Pathologic Processes C0030660
Relationships (12)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 6
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 11
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN123img genetic aspects C0017399
DISO_to_CHEM23img Ion Channel C0022009
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_CHEM18img Sodium Channel C0037492
DISO_to_CHEM18img Sodium Channels C0037492
DISO_to_DISO15img Arrhythmias, Cardiac C0003811
DISO_to_ANAT14img Muscle, Skeletal C0242692
DISO_to_PHYS13img Mutation C0026882
DISO_to_DISO12img Long QT Syndrome C0023976
DISO_to_DISO11img Epilepsy C0014544
DISO_to_DISO9img Sudden Cardiac Death C0085298
DISO_to_DISOpermuted_term_ofimg Channelopathies C1720983
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanSCN9A6335sodium channel, voltage-gated, type IX, alpha subunit
img GENERIF, Score=861, Pubmed Id: 17167479, UMLKSK CUI: C1720983
img GENERIF, Score=1000, Pubmed Id: 15929046, UMLKSK CUI: C1720983
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1720983Channelopathies0self