Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Leukocyte-Adhesion Deficiency Syndrome
Debug Stats
  • ### Total Build Time: 38 ms 11.866 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 483 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 568 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.533 KB
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 4.953 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.598 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Leukocyte-Adhesion Deficiency Syndrome C0242597
Definition (1)
Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Immunologic Deficiency Syndromes C0021051
Ancestral Roots
RootRoot Plus OneDepthParent
img Immune System Diseases C0021053img Immunologic Deficiency Syndromes C00210513img Immunologic Deficiency Syndromes C0021051
Relationships (10)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 4
diso_​to_​phen : 2


Relationships:
none : 8
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_CHEM19img Antigens, CD18 C0064830
DISO_to_CHEM13img Antigens, CD18 C0064830
DISO_to_CHEM11img Membrane Associated Proteins C0025252
DISO_to_CHEM10img NEOPL PROTEINS C0027642
DISO_to_DISO9img CANINE DIS C0012979
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_DISOpermuted_term_ofimg DEFIC SYNDROME LEUKOCYTE ADHESION C0242597
DISO_to_DISOmapped_toimg Leukocyte adhesion deficiency type 1 C0398738
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanRAP1GAP5909RAP1 GTPase activating protein
img GENERIF, Score=1000, Pubmed Id: 14551137, UMLKSK CUI: C0242597
HumanITGB23689integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
img GENERIF, Score=1000, Pubmed Id: 11753075, UMLKSK CUI: C0242597
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0242597Leukocyte-Adhesion Deficiency Syndrome0self