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Details
Link-It Detail - Disease - Familial benign neonatal epilepsy
Debug Stats
  • ### Total Build Time: 15 ms 15.202 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 364 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=1 ms Completed: 1 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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 13.506 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Familial benign neonatal epilepsy C0220669
Genes (9)

Species:
human : 9
SpeciesGeneGeneIdGene NameEvidence
HumanEIG3432400Epilepsy, idiopathic generalized, susceptibility to 3
img OMIM, Score=1000, UMLKSK CUI: C0220669
HumanEIG2353124Epilepsy, idiopathic generalized, susceptibility to 2
img OMIM, Score=1000, UMLKSK CUI: C0220669
HumanSCN2A6326sodium channel, voltage-gated, type II, alpha subunit
img OMIM, Score=909, UMLKSK CUI: C0220669
HumanOPRM14988opioid receptor, mu 1
img OMIM, Score=1000, UMLKSK CUI: C0220669
HumanME24200malic enzyme 2, NAD(+)-dependent, mitochondrial
img OMIM, Score=1000, UMLKSK CUI: C0220669
HumanKCNQ33786potassium voltage-gated channel, KQT-like subfamily, member 3
img GENERIF, Score=771, Pubmed Id: 16735477, UMLKSK CUI: C0220669
img GENERIF, Score=737, Pubmed Id: 16235065, UMLKSK CUI: C0220669
HumanKCNQ23785potassium voltage-gated channel, KQT-like subfamily, member 2
img GENERIF, Score=737, Pubmed Id: 16235065, UMLKSK CUI: C0220669
img GENERIF, Score=1000, Pubmed Id: 15178210, UMLKSK CUI: C0220669
img GENERIF, Score=1000, Pubmed Id: 11726784, UMLKSK CUI: C0220669
img GENERIF, Score=1000, Pubmed Id: 15030501, UMLKSK CUI: C0220669
img GENERIF, Score=1000, Pubmed Id: 18246739, UMLKSK CUI: C0220669
img GENERIF, Score=1000, Pubmed Id: 12847176, UMLKSK CUI: C0220669
HumanEGI1957epilepsy, generalized, idiopathic
img OMIM, Score=1000, UMLKSK CUI: C0220669
HumanCACNB4785calcium channel, voltage-dependent, beta 4 subunit
img OMIM, Score=1000, UMLKSK CUI: C0220669
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220669Familial benign neonatal epilepsy0self