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Details
Link-It Detail - Disease - Congenital leucocyte adherence deficiency
Debug Stats
  • ### Total Build Time: 34 ms 9.296 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 380 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 327 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=19 ms Completed: 19 ms rowSize= 2.621 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 4.739 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.175 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital leucocyte adherence deficiency C0272187
Definition (1)
A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections.
Relationships (4)

Relation Types:
diso_​to_​diso : 2
diso_​to_​gene : 2


Relationships:
gene_​associated_​with_​disease : 2
isa : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Congenital disorder of glycosylation, type 2C C0398739
DISO_to_DISOisaimg Leukocyte adhesion deficiency type 1 C0398738
DISO_to_GENEgene_associated_with_diseaseimg ITGB2 gene C1334146
DISO_to_GENEgene_associated_with_diseaseimg ITGB2 wt Allele C1706333
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSLC35C155343solute carrier family 35 (GDP-fucose transporter), member C1
img GENERIF, Score=717, Pubmed Id: 16455955, UMLKSK CUI: C0272187
HumanITGB23689integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
img GAD, Score=1000, Pubmed Id: 1346132, UMLKSK CUI: C0272187
img GENERIF, Score=756, Pubmed Id: 11831866, UMLKSK CUI: C0272187
img GENERIF, Score=884, Pubmed Id: 14512306, UMLKSK CUI: C0272187
img GENERIF, Score=1000, Pubmed Id: 11882363, UMLKSK CUI: C0272187
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0272187Congenital leucocyte adherence deficiency0self