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Details
Link-It Detail - Disease - ENFL1
Debug Stats
  • ### Total Build Time: 20 ms 8.787 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 308 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=16 ms Completed: 16 ms rowSize= 5.896 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 1.381 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ENFL1 C1838049
Relationships (13)

Relation Types:
diso_​to_​diso : 13


Relationships:
alias_​of : 1
manifestation_​of : 12
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Arm flexion C1838053
DISO_to_DISOmanifestation_ofimg Articulation, Unintelligible C0566625
DISO_to_DISOmanifestation_ofimg Aura may occur C1838056
DISO_to_DISOmanifestation_ofimg Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 4 gene (CHRNA4, 118504.0002) C1838059
DISO_to_DISOmanifestation_ofimg Childhood onset C1837352
DISO_to_DISOalias_ofimg ENFL1 C1838049
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (see ENFL2 603204, ENFL3 605375, ENFL4 610353) C2677456
DISO_to_DISOmanifestation_ofimg Ictal EEG showed partial seizures with frontal lobe origin C1838057
DISO_to_DISOmanifestation_ofimg May be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders C1838060
DISO_to_DISOmanifestation_ofimg Mental retardation (rare) C1850387
DISO_to_DISOmanifestation_ofimg Motor seizures, nocturnal, usually occur in clusters (up to 8 per night) during dozing or on awakening C2677455
DISO_to_DISOmanifestation_ofimg Mouth movements C1838055
DISO_to_DISOmanifestation_ofimg Tonic head extension C1838054
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCHRNA21135cholinergic receptor, nicotinic, alpha 2 (neuronal)
img OMIM, Score=1000, UMLKSK CUI: C1838049
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1838049ENFL10self