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Details
Link-It Detail - Disease - Hyperlipoproteinemia Type IIb
Debug Stats
  • ### Total Build Time: 7 ms 6.887 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 504 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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 4.710 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperlipoproteinemia Type IIb C1704417
Definition (1)
Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia).
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanABCG864241ATP-binding cassette, sub-family G (WHITE), member 8
img OMIM, Score=1000, UMLKSK CUI: C1704417
HumanABCG564240ATP-binding cassette, sub-family G (WHITE), member 5
img OMIM, Score=1000, UMLKSK CUI: C1704417
HumanAPOE348apolipoprotein E
img GENERIF, Score=1000, Pubmed Id: 17848837, UMLKSK CUI: C1704417
HumanAPOB338apolipoprotein B
img GAD, Score=1000, Pubmed Id: 8371062, UMLKSK CUI: C1704417
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1704417Hyperlipoproteinemia Type IIb0self