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Details
Link-It Detail - Disease - BRACHYCEPHALY
Debug Stats
  • ### Total Build Time: 14 ms 27.641 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 209 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=2 ms Completed: 2 ms rowSize= 2.402 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 23.500 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
BRACHYCEPHALY C0221356
Definition (1)
Premature closing of both sides of the coronal sutures.
Relationships (3)

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


Relationships:
associated_​with : 1
location_​of : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Head C0018670
DISO_to_DISOassociated_withimg Abnormally short growth C0332895
DISO_to_DISOpermuted_term_ofimg BRACHYCEPHALY C0221356
Genes (26)

Species:
human : 26
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanRAB2351715RAB23, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanNIPBL25836Nipped-B homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanRAI110743retinoic acid induced 1
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanUBE3A7337ubiquitin protein ligase E3A
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanPTH1R5745parathyroid hormone 1 receptor
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanMTR45485-methyltetrahydrofolate-homocysteine methyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanMMP24313matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanGATA12623GATA binding protein 1 (globin transcription factor 1)
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanFGFR32261fibroblast growth factor receptor 3
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanEFNB11947ephrin-B1
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanBUB1B701BUB1 mitotic checkpoint serine/threonine kinase B
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanBMP4652bone morphogenetic protein 4
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanATP7A538ATPase, Cu++ transporting, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0221356
HumanATIC4715-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
img OMIM, Score=1000, UMLKSK CUI: C0221356
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221356BRACHYCEPHALY0self