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Details
Link-It Detail - Disease - 'HABSBURG JAW'
Debug Stats
  • ### Total Build Time: 18 ms 19.542 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 326 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=6 ms Completed: 6 ms rowSize= 2.382 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 15.623 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
'HABSBURG JAW' C0266075
Relationships (3)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 2


Relationships:
alias_​of : 1
associated_​with : 1
location_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Mandible C0024687
DISO_to_DISOalias_ofimg 'HABSBURG JAW' C0266075
DISO_to_DISOassociated_withimg Congenital forward deviation C0332947
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanCUL79820cullin 7
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanTPM27169tropomyosin 2 (beta)
img OMIM, Score=882, UMLKSK CUI: C0266075
HumanTNNT37140troponin T type 3 (skeletal, fast)
img OMIM, Score=882, UMLKSK CUI: C0266075
HumanTNNI27136troponin I type 2 (skeletal, fast)
img OMIM, Score=882, UMLKSK CUI: C0266075
HumanSLC6A86535solute carrier family 6 (neurotransmitter transporter), member 8
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanRPS6KA36197ribosomal protein S6 kinase, 90kDa, polypeptide 3
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanRAPSN5913receptor-associated protein of the synapse
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanPAX35077paired box 3
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanOPHN14983oligophrenin 1
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img OMIM, Score=882, UMLKSK CUI: C0266075
HumanMUSK4593muscle, skeletal, receptor tyrosine kinase
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanFGFR12260fibroblast growth factor receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanCHRNE1145cholinergic receptor, nicotinic, epsilon (muscle)
img OMIM, Score=1000, UMLKSK CUI: C0266075
HumanCHRNB11140cholinergic receptor, nicotinic, beta 1 (muscle)
img OMIM, Score=1000, UMLKSK CUI: C0266075
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0266075'HABSBURG JAW'0self