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Details
Link-It Detail - Disease - Late-Infantile Neuronal Ceroid Lipfuscinosis
Debug Stats
  • ### Total Build Time: 36 ms 3.545 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 386 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 265 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=5 ms Completed: 5 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 1.558 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.178 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Late-Infantile Neuronal Ceroid Lipfuscinosis C0022340
Definition (1)
This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease.
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCLN654982ceroid-lipofuscinosis, neuronal 6, late infantile, variant
img GENERIF, Score=1000, Pubmed Id: 12815591, UMLKSK CUI: C0022340
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0022340Late-Infantile Neuronal Ceroid Lipfuscinosis0self