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Details
Link-It Detail - Disease - Low nasal bridge
Debug Stats
  • ### Total Build Time: 45 ms 16.305 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 330 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=1 ms Completed: 1 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= 106 bytes
  • CONCEPT_GENES gt=29 ms Completed: 29 ms rowSize= 14.658 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=3 ms Completed: 3 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Low nasal bridge C1837734
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=909, UMLKSK CUI: C1837734
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=909, UMLKSK CUI: C1837734
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanCUL79820cullin 7
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanGNPAT8443glyceronephosphate O-acyltransferase
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanMAPK105602mitogen-activated protein kinase 10
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanPEX75191peroxisomal biogenesis factor 7
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanGNAS2778GNAS complex locus
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanFGFR32261fibroblast growth factor receptor 3
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanFGFR12260fibroblast growth factor receptor 1
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanCOL2A11280collagen, type II, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanRUNX2860runt-related transcription factor 2
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanATRX546alpha thalassemia/mental retardation syndrome X-linked
img OMIM, Score=1000, UMLKSK CUI: C1837734
HumanARSB411arylsulfatase B
img OMIM, Score=1000, UMLKSK CUI: C1837734
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1837734Low nasal bridge0self