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Details
Link-It Detail - Disease - Congenital small ears
Debug Stats
  • ### Total Build Time: 11 ms 16.042 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=3 ms Completed: 3 ms rowSize= 3.327 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 11.157 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital small ears C0152423
Relationships (5)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 4


Relationships:
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
location_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Ear, External C0013453
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOexpanded_form_ofimg Congenital small ears C0152423
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanSALL16299sal-like 1 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanHOXA23199homeobox A2
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanGLI32737GLI family zinc finger 3
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanFGF32248fibroblast growth factor 3
img GENERIF, Score=1000, Pubmed Id: 18701883, UMLKSK CUI: C0152423
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanFKTN2218fukutin
img OMIM, Score=1000, UMLKSK CUI: C0152423
HumanEYA12138eyes absent homolog 1 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0152423
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0152423Congenital small ears0self