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Details
Link-It Detail - Disease - Congenital kyphosis
Debug Stats
  • ### Total Build Time: 14 ms 28.471 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 336 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= 3.702 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 23.217 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital kyphosis C0265673
Relationships (5)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 2


Relationships:
associated_​with : 1
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
location_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Bone structure of thoracic vertebra C0039987
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skeletal bone C0262950
DISO_to_DISOis_finding_of_diseaseimg Congenital Lesion C1707484
DISO_to_DISOassociated_withimg Congenital abnormal curvature C0332944
Genes (48)

Species:
human : 48
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanSIL164374SIL1 nucleotide exchange factor
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanDYM54808dymeclin
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanPDE11A50940phosphodiesterase 11A
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanAIP9049aryl hydrocarbon receptor interacting protein
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanCUL4B8450cullin 4B
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanALMS17840Alstrom syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanCDKL56792cyclin-dependent kinase-like 5
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanSNRPN6638small nuclear ribonucleoprotein polypeptide N
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanTRAPPC26399trafficking protein particle complex 2
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanRET5979ret proto-oncogene
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanPMM25373phosphomannomutase 2
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanPLOD15351procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
img OMIM, Score=1000, UMLKSK CUI: C0265673
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0265673
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265673Congenital kyphosis0self