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Details
Link-It Detail - Disease - Lhermitte-Duclos disease
Debug Stats
  • ### Total Build Time: 49 ms 13.378 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 414 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= 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=3 ms Completed: 3 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 11.304 KB
  • CONCEPT_XREFS gt=27 ms Completed: 27 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lhermitte-Duclos disease C0391826
Definition (1)
A benign, WHO grade I cerebellar mass, which occurs in young adults and is composed of dysplastic ganglion cells. It is the major CNS manifestation of Cowden disease, an autosomal dominant condition that causes a variety of hamartomas and neoplasms. (from WHO)
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanPTEN5728phosphatase and tensin homolog
img GENERIF, Score=1000, Pubmed Id: 14566704, UMLKSK CUI: C0391826
img OMIM, Score=1000, UMLKSK CUI: C0391826
HumanRELN5649reelin
img NCI, Score=801, Pubmed Id: 11063082, UMLKSK CUI: C0391826
img NCI, Score=801, Pubmed Id: 11562863, UMLKSK CUI: C0391826
img NCI, Score=801, Pubmed Id: 11562863, UMLKSK CUI: C0391826
HumanPAFAH1B15048platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
img NCI, Score=801, Pubmed Id: 11562863, UMLKSK CUI: C0391826
img NCI, Score=801, Pubmed Id: 11063082, UMLKSK CUI: C0391826
HumanMTOR2475mechanistic target of rapamycin (serine/threonine kinase)
img NCI, Score=801, Pubmed Id: 14534328, UMLKSK CUI: C0391826
HumanBMPR1A657bone morphogenetic protein receptor, type IA
img OMIM, Score=1000, UMLKSK CUI: C0391826
HumanAKT1207v-akt murine thymoma viral oncogene homolog 1
img GENERIF, Score=1000, Pubmed Id: 14566704, UMLKSK CUI: C0391826
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0391826Lhermitte-Duclos disease0self