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Details
Link-It Detail - Disease - Xanthoma
Debug Stats
  • ### Total Build Time: 25 ms 42.004 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 379 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=5 ms Completed: 5 ms rowSize= 3.758 KB
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 36.356 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Xanthoma C0302314
Definition (1)
A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003
Relationships (6)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 4


Relationships:
is_​associated_​anatomic_​site_​of : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg soft tissue C0225317
DISO_to_DISOisaimg Cutaneous Verruciform Xanthoma C0346054
DISO_to_DISOisaimg Eyelid Xanthoma C0155210
DISO_to_DISOisaimg Gastric Xanthoma C1282522
DISO_to_DISOpermuted_term_ofimg Xanthoma C0302314
Genes (25)

Species:
human : 24
mouse : 1
SpeciesGeneGeneIdGene NameEvidence
MouseSOAT16646sterol O-acyltransferase 1
img NCI, Score=801, Pubmed Id: 10727439, UMLKSK CUI: C0302314
HumanLIPI149998lipase, member I
img OMIM, Score=833, UMLKSK CUI: C0302314
HumanAPOA5116519apolipoprotein A-V
img OMIM, Score=833, UMLKSK CUI: C0302314
HumanC7orf1610842
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanVCAM17412vascular cell adhesion molecule 1
img NCI, Score=801, Pubmed Id: 12788528, UMLKSK CUI: C0302314
img GENERIF, Score=1000, Pubmed Id: 12788528, UMLKSK CUI: C0302314
HumanUSF17391upstream transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanTTPA7274tocopherol (alpha) transfer protein
img OMIM, Score=966, UMLKSK CUI: C0302314
HumanTIMP17076TIMP metallopeptidase inhibitor 1
img NCI, Score=801, Pubmed Id: 2478017, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 2478017, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 2478017, UMLKSK CUI: C0302314
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanS100A96280S100 calcium binding protein A9
img NCI, Score=801, Pubmed Id: 1519935, UMLKSK CUI: C0302314
HumanRP16101retinitis pigmentosa 1 (autosomal dominant)
img OMIM, Score=833, UMLKSK CUI: C0302314
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanCEACAM64680carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)
img NCI, Score=801, Pubmed Id: 2826848, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 6381818, UMLKSK CUI: C0302314
HumanLPL4023lipoprotein lipase
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanLMNA4000lamin A/C
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanLDLR3949low density lipoprotein receptor
img OMIM, Score=1000, UMLKSK CUI: C0302314
img GAD, Score=790, Pubmed Id: 1673111, UMLKSK CUI: C0302314
HumanITIH43700inter-alpha-trypsin inhibitor heavy chain family, member 4
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanSLC37A42542solute carrier family 37 (glucose-6-phosphate transporter), member 4
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanEPHX22053epoxide hydrolase 2, cytoplasmic
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanCYP27A11593cytochrome P450, family 27, subfamily A, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanCETP1071cholesteryl ester transfer protein, plasma
img NCI, Score=801, Pubmed Id: 10488970, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 10488970, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 10488970, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 15256768, UMLKSK CUI: C0302314
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanCD68968CD68 molecule
img NCI, Score=801, Pubmed Id: 1519935, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 12911673, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 7841833, UMLKSK CUI: C0302314
HumanAPOB338apolipoprotein B
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanAPOA2336apolipoprotein A-II
img NCI, Score=801, Pubmed Id: 3934306, UMLKSK CUI: C0302314
img OMIM, Score=1000, UMLKSK CUI: C0302314
HumanABCA119ATP-binding cassette, sub-family A (ABC1), member 1
img NCI, Score=801, Pubmed Id: 6650173, UMLKSK CUI: C0302314
img OMIM, Score=1000, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 6431953, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 2226526, UMLKSK CUI: C0302314
img NCI, Score=801, Pubmed Id: 629544, UMLKSK CUI: C0302314
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0302314Xanthoma0self