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Details
Link-It Detail - Disease - Macule
Debug Stats
  • ### Total Build Time: 19 ms 24.552 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 310 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 213 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=7 ms Completed: 7 ms rowSize= 4.655 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 18.175 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.141 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Macule C0332573
Definition (1)
a patch of skin that is discolored but not usually elevated
Relationships (10)

Relation Types:
diso_​to_​diso : 10


Relationships:
associated_​with : 9
isa : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOassociated_withimg Freckles C0016689
DISO_to_DISOisaimg Macula cerulea C0343042
DISO_to_DISOassociated_withimg Urticaria Pigmentosa C0042111
DISO_to_DISOassociated_withimg Urticaria pigmentosa, adult form C0263341
DISO_to_DISOassociated_withimg Urticaria pigmentosa, diffuse erythrodermic type C0263345
DISO_to_DISOassociated_withimg Urticaria pigmentosa, infantile form C0263340
DISO_to_DISOassociated_withimg Urticaria pigmentosa, maculopapular type C0263342
DISO_to_DISOassociated_withimg Urticaria pigmentosa, multiple nodules AND/OR plaques C0263343
DISO_to_DISOassociated_withimg Urticaria pigmentosa, solitary cutaneous nodule C0263344
DISO_to_DISOassociated_withimg Urticaria pigmentosa, telangiectasia macularis eruptiva perstans C0263346
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanXYLT264132xylosyltransferase II
img OMIM, Score=799, UMLKSK CUI: C0332573
HumanXYLT164131xylosyltransferase I
img OMIM, Score=799, UMLKSK CUI: C0332573
HumanOSBP223762oxysterol binding protein 2
img GENERIF, Score=1000, Pubmed Id: 18294060, UMLKSK CUI: C0332573
HumanBEST17439bestrophin 1
img GENERIF, Score=861, Pubmed Id: 17591911, UMLKSK CUI: C0332573
HumanSMPD16609sphingomyelin phosphodiesterase 1, acid lysosomal
img OMIM, Score=790, UMLKSK CUI: C0332573
HumanRS16247retinoschisin 1
img GENERIF, Score=1000, Pubmed Id: 17296904, UMLKSK CUI: C0332573
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=799, UMLKSK CUI: C0332573
HumanMVK4598mevalonate kinase
img OMIM, Score=799, UMLKSK CUI: C0332573
HumanKRT53852keratin 5
img OMIM, Score=799, UMLKSK CUI: C0332573
HumanIL63569interleukin 6 (interferon, beta 2)
img OMIM, Score=966, UMLKSK CUI: C0332573
HumanICAM13383intercellular adhesion molecule 1
img GENERIF, Score=1000, Pubmed Id: 16604055, UMLKSK CUI: C0332573
HumanCFH3075complement factor H
img GENERIF, Score=1000, Pubmed Id: 17360715, UMLKSK CUI: C0332573
img GENERIF, Score=1000, Pubmed Id: 18067970, UMLKSK CUI: C0332573
HumanGUCY2D3000guanylate cyclase 2D, membrane (retina-specific)
img GENERIF, Score=1000, Pubmed Id: 12623820, UMLKSK CUI: C0332573
HumanGSTP12950glutathione S-transferase pi 1
img GENERIF, Score=861, Pubmed Id: 15355982, UMLKSK CUI: C0332573
HumanATP2A2488ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
img OMIM, Score=799, UMLKSK CUI: C0332573
HumanABCC6368ATP-binding cassette, sub-family C (CFTR/MRP), member 6
img OMIM, Score=799, UMLKSK CUI: C0332573
HumanAPOE348apolipoprotein E
img OMIM, Score=1000, UMLKSK CUI: C0332573
HumanADAR103adenosine deaminase, RNA-specific
img OMIM, Score=799, UMLKSK CUI: C0332573
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0332573Macule0self