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Details
Link-It Detail - Disease - Epilepsy
Debug Stats
  • ### Total Build Time: 105 ms 45.025 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 357 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 550 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 4.393 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.516 KB
  • CONCEPT_RELATIONSHIPS gt=65 ms Completed: 65 ms rowSize= 15.763 KB
  • CONCEPT_GENES gt=32 ms Completed: 32 ms rowSize= 20.809 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Epilepsy C0014544
Definition (1)
brain disorder characterized by recurring excessive neuronal discharge, exhibited by transient episodes of motor, sensory, or psychic dysfunction, with or without unconsciousness or convulsive movements.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Brain Diseases C0006111
Children (10)
img Epilepsies, Partial C0014547
img Epilepsy, Benign Neonatal C0270851
img Seizures, Febrile C0009952
img Epilepsies, Myoclonic C0014550
img Epilepsy, Reflex C0270857
img Status Epilepticus C0038220
img Seizures C0036572
img Landau-Kleffner Syndrome C0282512
img Epilepsy, Generalized C0014548
img Epilepsy, Post-Traumatic C0014557
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076824img Brain Diseases C0006111
Relationships (341)

Relation Types:
diso_​to_​anat : 42
diso_​to_​chem : 65
diso_​to_​diso : 191
diso_​to_​gene : 1
diso_​to_​phen : 5
diso_​to_​phys : 37


Relationships:
none : 242
associated_​with : 2
classified_​as : 22
classifies : 1
disease_​has_​associated_​disease : 1
induces : 1
is_​associated_​anatomic_​site_​of : 2
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 37
mapped_​to : 20
may_​treat : 5
permuted_​term_​of : 1
related_​to : 3
use : 3
Page Size
Current 25
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Prior Page
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM1719img Anticonvulsants C0003286
DISO_to_CHEM1433img Anticonvulsants C0003286
DISO_to_DISO1208img Complication Aspects C1171258
DISO_to_PHEN797img genetic aspects C0017399
DISO_to_DISO700img Complication Aspects C1171258
DISO_to_ANAT619img Brain C0006104
DISO_to_PHEN508img genetic aspects C0017399
DISO_to_DISO432img Seizures C0036572
DISO_to_ANAT418img Brain C0006104
DISO_to_DISO366img chemically induced C0007994
DISO_to_DISO343img chemically induced C0007994
DISO_to_ANAT299img Hippocampus C0019564
DISO_to_ANAT298img Cerebral Cortex C0007776
DISO_to_ANAT295img Cerebral Cortex C0007776
DISO_to_ANAT291img Hippocampus C0019564
DISO_to_DISO260img Seizures C0036572
DISO_to_ANAT233img In Blood C0005768
DISO_to_ANAT232img In Blood C0005768
DISO_to_CHEM178img Valproic Acid C0042291
DISO_to_CHEM174img Valproic Acid C0042291
DISO_to_ANAT173img Neurons C0027882
DISO_to_ANAT162img Neurons C0027882
DISO_to_CHEM161img Carbamazepine C0006949
DISO_to_DISO158img Cognition Disorders C0009241
DISO_to_DISO139img Death, Sudden C0011071
Genes (437)

Species:
human : 437
Page Size
Current 25
  Page 1 of 18
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLEB5100188798Systemic lupus erythematosus, susceptibility to, 5
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanEIG3432400Epilepsy, idiopathic generalized, susceptibility to 3
img OMIM, Score=1000, UMLKSK CUI: C0014544
HumanSLEB4404714systemic lupus erythematosus, susceptibility to, 4
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanNHLRC1378884NHL repeat containing 1
img GENERIF, Score=1000, Pubmed Id: 12958597, UMLKSK CUI: C0014544
HumanNDUFS7374291NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanEIG2353124Epilepsy, idiopathic generalized, susceptibility to 2
img OMIM, Score=1000, UMLKSK CUI: C0014544
HumanSLC6A19340024solute carrier family 6 (neutral amino acid transporter), member 19
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanASPM259266asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanMFSD8256471major facilitator superfamily domain containing 8
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanSTOX1219736storkhead box 1
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanSLEH1170682systemic lupus erythematosus with hemolytic anemia 1
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanARX170302aristaless related homeobox
img GENERIF, Score=901, Pubmed Id: 18468866, UMLKSK CUI: C0014544
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanLGI4163175leucine-rich repeat LGI family, member 4
img GAD, Score=1000, Pubmed Id: 14505228, UMLKSK CUI: C0014544
HumanNAGS162417N-acetylglutamate synthase
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanKCTD7154881potassium channel tetramerization domain containing 7
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanPRICKLE1144165prickle homolog 1 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanTRPM6140803transient receptor potential cation channel, subfamily M, member 6
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanC8orf38137682
INFERRED, Score=800, UMLKSK CUI: C0014544
HumanNIPA1123606non imprinted in Prader-Willi/Angelman syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0014544
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014544Epilepsy0self