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Details
Link-It Detail - Disease - ADA - Adenosine aminohydrolase deficiency
Debug Stats
  • ### Total Build Time: 30 ms 6.778 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= 441 bytes
  • CONCEPT_SYNONYM gt=NONE 1 ms Completed: 1 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=20 ms Completed: 20 ms rowSize= 2.233 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 2.498 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.175 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ADA - Adenosine aminohydrolase deficiency C0268124
Definition (1)
An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.
Relationships (3)

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


Relationships:
associated_​with : 2
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMassociated_withimg ADENOSINE DEAMINASE C0001457
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOused_forimg Severe Combined Immunodeficiency C0085110
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanDCK1633deoxycytidine kinase
img GENERIF, Score=1000, Pubmed Id: 18600545, UMLKSK CUI: C0268124
HumanADK132adenosine kinase
img GENERIF, Score=1000, Pubmed Id: 18600545, UMLKSK CUI: C0268124
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268124ADA - Adenosine aminohydrolase deficiency0self