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Details
Link-It Detail - Disease - Charcot-Marie-Tooth Disease, Type Ia (disorder)
Debug Stats
  • ### Total Build Time: 7 ms 6.638 KB
  • CONCEPT_NAME gt=2 ms Completed: 1 ms rowSize= 392 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 291 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=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 4.616 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.181 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Charcot-Marie-Tooth Disease, Type Ia (disorder) C0270911
Definition (1)
Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPMP225376peripheral myelin protein 22
img GAD, Score=1000, Pubmed Id: 8510709, UMLKSK CUI: C0270911
img GAD, Score=1000, Pubmed Id: 9040744, UMLKSK CUI: C0270911
HumanERBB32065v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3
img GENERIF, Score=787, Pubmed Id: 16307437, UMLKSK CUI: C0270911
HumanERBB22064v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
img GENERIF, Score=787, Pubmed Id: 16307437, UMLKSK CUI: C0270911
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0270911Charcot-Marie-Tooth Disease, Type Ia (disorder)0self