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Details
Link-It Detail - Disease - Congenital macroglossia
Debug Stats
  • ### Total Build Time: 19 ms 21.998 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 344 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=4 ms Completed: 4 ms rowSize= 3.292 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 17.143 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital macroglossia C0009677
Relationships (5)

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


Relationships:
associated_​with : 1
classifies : 2
location_​of : 1
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Tongue C0040408
DISO_to_DISOclassifiesimg Congenital digestive system anomalies C0266015
DISO_to_DISOassociated_withimg Congenital hypertrophy C0332887
DISO_to_DISOmapped_toimg Congenital macroglossia C0009677
DISO_to_DISOclassifiesimg Other digestive congenital anomalies C0810360
Genes (20)

Species:
human : 20
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanKCNQ1OT110984KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanPAX87849paired box 8
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanTSHB7252thyroid stimulating hormone, beta
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanSLC5A56528solute carrier family 5 (sodium/iodide cotransporter), member 5
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanROR24920receptor tyrosine kinase-like orphan receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanINSR3643insulin receptor
img OMIM, Score=858, UMLKSK CUI: C0009677
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanHEXB3074hexosaminidase B (beta polypeptide)
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanGPC32719glypican 3
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanGAA2548glucosidase, alpha; acid
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanFUCA12517fucosidase, alpha-L- 1, tissue
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanDNMT3B1789DNA (cytosine-5-)-methyltransferase 3 beta
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanCDKN1C1028cyclin-dependent kinase inhibitor 1C (p57, Kip2)
img OMIM, Score=1000, UMLKSK CUI: C0009677
HumanARSB411arylsulfatase B
img OMIM, Score=1000, UMLKSK CUI: C0009677
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0009677Congenital macroglossia0self