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Details
Link-It Detail - Disease - ECA2
Debug Stats
  • ### Total Build Time: 10 ms 13.788 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 306 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=3 ms Completed: 3 ms rowSize= 5.538 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 6.742 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.139 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
ECA2 C1843244
Relationships (12)

Relation Types:
diso_​to_​diso : 12


Relationships:
expanded_​form_​of : 1
manifestation_​of : 11
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Absence Epilepsy C0014553
DISO_to_DISOmanifestation_ofimg Accounts for 5-15% of childhood epilepsies C1843242
DISO_to_DISOmanifestation_ofimg Caused by mutation in the gamma-aminobutyric acid receptor, gamma-2 gene (GABRG2, 137164.0002) C1843245
DISO_to_DISOexpanded_form_ofimg ECA2 C1843244
DISO_to_DISOmanifestation_ofimg EEG shows 3-4-Hz spike and multispike slow wave complexes C1843236
DISO_to_DISOmanifestation_ofimg Febrile seizures may occur C1843235
DISO_to_DISOmanifestation_ofimg Generalized tonic-clonic seizures (often develop in adolescence) C1843234
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (see ECA1, 600131 and ECA3, 607682) C1843246
DISO_to_DISOmanifestation_ofimg High frequency of absence seizures (several per day) C1843239
DISO_to_DISOmanifestation_ofimg Onset in childhood (6-7 years) C1843238
DISO_to_DISOmanifestation_ofimg Seizures may persist into adulthood C1843241
DISO_to_DISOmanifestation_ofimg Seizures may remit in adolescence C1843240
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanEIG3432400Epilepsy, idiopathic generalized, susceptibility to 3
img OMIM, Score=833, UMLKSK CUI: C1843244
HumanEIG2353124Epilepsy, idiopathic generalized, susceptibility to 2
img OMIM, Score=833, UMLKSK CUI: C1843244
HumanOPRM14988opioid receptor, mu 1
img OMIM, Score=833, UMLKSK CUI: C1843244
HumanME24200malic enzyme 2, NAD(+)-dependent, mitochondrial
img OMIM, Score=833, UMLKSK CUI: C1843244
HumanEGI1957epilepsy, generalized, idiopathic
img OMIM, Score=833, UMLKSK CUI: C1843244
HumanCLCN21181chloride channel, voltage-sensitive 2
img OMIM, Score=1000, UMLKSK CUI: C1843244
HumanCACNB4785calcium channel, voltage-dependent, beta 4 subunit
img OMIM, Score=833, UMLKSK CUI: C1843244
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1843244ECA20self