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Details
Link-It Detail - Disease - Large stature
Debug Stats
  • ### Total Build Time: 49 ms 13.040 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 324 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=2 ms Completed: 2 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=11 ms Completed: 11 ms rowSize= 1.452 KB
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 10.054 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Large stature C0241240
Relationships (2)

Relation Types:
diso_​to_​diso : 2


Relationships:
isa : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Body height increased C0231249
DISO_to_DISOisaimg Constitutional gigantism C0342571
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanNOG9241noggin
img GENERIF, Score=1000, Pubmed Id: 18204269, UMLKSK CUI: C0241240
HumanSMS6611spermine synthase
img OMIM, Score=1000, UMLKSK CUI: C0241240
HumanSLC6A86535solute carrier family 6 (neurotransmitter transporter), member 8
img OMIM, Score=1000, UMLKSK CUI: C0241240
HumanPLOD15351procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
img OMIM, Score=1000, UMLKSK CUI: C0241240
HumanOPHN14983oligophrenin 1
img GENERIF, Score=1000, Pubmed Id: 17845870, UMLKSK CUI: C0241240
HumanMC2R4158melanocortin 2 receptor (adrenocorticotropic hormone)
img OMIM, Score=1000, UMLKSK CUI: C0241240
HumanGPC32719glypican 3
img OMIM, Score=1000, UMLKSK CUI: C0241240
HumanFGFR32261fibroblast growth factor receptor 3
img OMIM, Score=1000, UMLKSK CUI: C0241240
img OMIM, Score=1000, UMLKSK CUI: C0241240
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0241240
HumanCOL1A11277collagen, type I, alpha 1
img GAD, Score=833, Pubmed Id: 7738948, UMLKSK CUI: C0241240
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0241240Large stature0self