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Details
Link-It Detail - Disease - Hyperlipoproteinemia Type IIa
Debug Stats
  • ### Total Build Time: 35 ms 9.180 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 393 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=2 ms Completed: 2 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 7.111 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperlipoproteinemia Type IIa C0745103
Definition (1)
Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPCSK9255738proprotein convertase subtilisin/kexin type 9
img GENERIF, Score=1000, Pubmed Id: 18559913, UMLKSK CUI: C0745103
img GENERIF, Score=1000, Pubmed Id: 16211558, UMLKSK CUI: C0745103
img GENERIF, Score=1000, Pubmed Id: 15099351, UMLKSK CUI: C0745103
img GENERIF, Score=1000, Pubmed Id: 12730697, UMLKSK CUI: C0745103
HumanLDLR3949low density lipoprotein receptor
img GENERIF, Score=1000, Pubmed Id: 17964958, UMLKSK CUI: C0745103
HumanAPOB338apolipoprotein B
img GENERIF, Score=1000, Pubmed Id: 17566095, UMLKSK CUI: C0745103
img GENERIF, Score=1000, Pubmed Id: 17964958, UMLKSK CUI: C0745103
img GENERIF, Score=923, Pubmed Id: 16596945, UMLKSK CUI: C0745103
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0745103Hyperlipoproteinemia Type IIa0self