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Details
Link-It Detail - Disease - ENFL4
Debug Stats
  • ### Total Build Time: 13 ms 10.261 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
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  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 7.342 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.408 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.140 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (1)
ENFL4 C1835905
Relationships (17)

Relation Types:
diso_​to_​diso : 17


Relationships:
alias_​of : 1
manifestation_​of : 16
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 2 gene (CHRNA2, 118502.0001) C2674591
DISO_to_DISOmanifestation_ofimg Complex motor behavior such as sleep walking C2674587
DISO_to_DISOmanifestation_ofimg EEG shows frontal lobe origin C2674590
DISO_to_DISOalias_ofimg ENFL4 C1835905
DISO_to_DISOmanifestation_ofimg Fearful expression C2674584
DISO_to_DISOmanifestation_ofimg Frequency and severity of seizures tends to decrease with age C2674594
DISO_to_DISOmanifestation_ofimg Frightening sensation C2674585
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (see ENFL1, 600513) C2674592
DISO_to_DISOmanifestation_ofimg Has tingling sensation C2242996
DISO_to_DISOmanifestation_ofimg Hypermotor behavior C2674588
DISO_to_DISOmanifestation_ofimg May be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders C1838060
DISO_to_DISOmanifestation_ofimg Onset in childhood (mean age 10 years) C2674593
DISO_to_DISOmanifestation_ofimg Seizures, nocturnal, usually occur in daily clusters C2674581
DISO_to_DISOmanifestation_ofimg Shivering sensation C2674586
DISO_to_DISOmanifestation_ofimg Sudden awakening C2674582
DISO_to_DISOmanifestation_ofimg Tongue movements, protrusions C2674589
DISO_to_DISOmanifestation_ofimg Unintelligible speech, vocalizations, grunting C2674583
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCHRNA41137cholinergic receptor, nicotinic, alpha 4 (neuronal)
img OMIM, Score=833, UMLKSK CUI: C1835905
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1835905ENFL40self