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Details
Link-It Detail - Disease - Coloboma of iris
Debug Stats
  • ### Total Build Time: 18 ms 13.704 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 253 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= 1.193 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 10.721 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Coloboma of iris C0240063
Definition (1)
A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.
Relationships (1)

Relation Types:
diso_​to_​anat : 1


Relationships:
is_​associated_​anatomic_​site_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanALG310195ALG3, alpha-1,3- mannosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanSOX106663SRY (sex determining region Y)-box 10
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanPTCH15727patched 1
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanLRP24036low density lipoprotein receptor-related protein 2
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanHCCS3052holocytochrome c synthase
img OMIM, Score=1000, UMLKSK CUI: C0240063
HumanCRYAA1409crystallin, alpha A
img GENERIF, Score=1000, Pubmed Id: 18302245, UMLKSK CUI: C0240063
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0240063Coloboma of iris0self