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Details
Link-It Detail - Disease - Classical Lissencephaly
Debug Stats
  • ### Total Build Time: 4 ms 3.562 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 412 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=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.493 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Classical Lissencephaly C0431375
Definition (1)
A genetic disorder caused by mutations in the LIS1, XLIS, or TUBA1A genes. It results in brain malformation characterized by the underdevelopment or absence of gyri or ridges in the cerebral cortex. Signs and symptoms include epilepsy and mental retardation.
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanTUBA1A7846tubulin, alpha 1a
img GENERIF, Score=1000, Pubmed Id: 18954413, UMLKSK CUI: C0431375
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0431375Classical Lissencephaly0self