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Details
Link-It Detail - Disease - Epilepsies, Myoclonic
Debug Stats
  • ### Total Build Time: 31 ms 42.043 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 397 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 537 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=4 ms Completed: 4 ms rowSize= 544 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1,017 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.510 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 12.907 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 23.823 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Epilepsies, Myoclonic C0014550
Disorder, Myoclonic Seizure
Definition (1)
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Epilepsy C0014544
Children (2)
img Myoclonic Epilepsies, Progressive C0751778
img Myoclonic Epilepsy, Juvenile C0270853
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Epilepsy C0014544
Relationships (44)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 17
diso_​to_​diso : 21
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 25
isa : 2
mapped_​to : 3
may_​treat : 9
permuted_​term_​of : 1
use : 4
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN142img genetic aspects C0017399
DISO_to_PHEN83img genetic aspects C0017399
DISO_to_CHEM60img Sodium Channel C0037492
DISO_to_CHEM57img Nerve Tissue Proteins C0027759
DISO_to_DISO52img Complication Aspects C1171258
DISO_to_CHEM37img Anticonvulsants C0003286
DISO_to_PHYS36img Mutation C0026882
DISO_to_CHEM25img Nerve Tissue Proteins C0027759
DISO_to_CHEM25img Sodium Channel C0037492
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_DISO23img Epilepsy, Generalized C0014548
DISO_to_CHEM21img Anticonvulsants C0003286
DISO_to_DISO19img chemically induced C0007994
DISO_to_PHYS16img Mutation C0026882
DISO_to_DISO13img Febrile Convulsions C0009952
DISO_to_DISO12img Epilepsy, Generalized C0014548
DISO_to_DISO11img Epilepsy C0014544
DISO_to_DISO11img Ketogenic Diet C0259972
DISO_to_DISO11img Seizures C0036572
DISO_to_CHEM10img 1-Pyrrolidineacetamide, 2-oxo- C0031977
DISO_to_CHEM10img Piracetam C0031977
DISO_to_DISO10img chemically induced C0007994
DISO_to_ANAT9img Brain C0006104
DISO_to_ANAT9img Cerebral Cortex C0007776
DISO_to_DISO9img Seizures C0036572
Genes (46)

Species:
human : 46
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanEIG3432400Epilepsy, idiopathic generalized, susceptibility to 3
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanNHLRC1378884NHL repeat containing 1
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanEIG2353124Epilepsy, idiopathic generalized, susceptibility to 2
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanMFSD8256471major facilitator superfamily domain containing 8
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanARX170302aristaless related homeobox
img GENERIF, Score=1000, Pubmed Id: 18975239, UMLKSK CUI: C0014550
img GENERIF, Score=861, Pubmed Id: 12177367, UMLKSK CUI: C0014550
HumanKCTD7154881potassium channel tetramerization domain containing 7
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanPRICKLE1144165prickle homolog 1 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0014550
HumanEFHC1114327EF-hand domain (C-terminal) containing 1
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanEFHC280258EF-hand domain (C-terminal) containing 2
INFERRED, Score=800, UMLKSK CUI: C0014550
HumanSLC25A2279751solute carrier family 25 (mitochondrial carrier: glutamate), member 22
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanGJD257369gap junction protein, delta 2, 36kDa
INFERRED, Score=800, UMLKSK CUI: C0014550
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanSLC25A1510166solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanEPM2A7957epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanALDH5A17915aldehyde dehydrogenase 5 family, member A1
img OMIM, Score=1000, UMLKSK CUI: C0014550
HumanCDKL56792cyclin-dependent kinase-like 5
img GENERIF, Score=1000, Pubmed Id: 16326141, UMLKSK CUI: C0014550
HumanSCN8A6334sodium channel, voltage gated, type VIII, alpha subunit
img GENERIF, Score=901, Pubmed Id: 17881658, UMLKSK CUI: C0014550
HumanSCN1A6323sodium channel, voltage-gated, type I, alpha subunit
Click here to display 17 evidence detail records.
HumanBRD26046bromodomain containing 2
img GENERIF, Score=1000, Pubmed Id: 16516380, UMLKSK CUI: C0014550
HumanPRKCD5580protein kinase C, delta
INFERRED, Score=800, UMLKSK CUI: C0014550
HumanPOLG5428polymerase (DNA directed), gamma
INFERRED, Score=800, UMLKSK CUI: C0014550
HumanSERPINI15274serpin peptidase inhibitor, clade I (neuroserpin), member 1
INFERRED, Score=800, UMLKSK CUI: C0014550
HumanOPRM14988opioid receptor, mu 1
img OMIM, Score=1000, UMLKSK CUI: C0014550
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014550Epilepsies, Myoclonic0self