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 - Purine-nucleoside phosphorylase deficiency
Debug Stats
  • ### Total Build Time: 236 ms 17.769 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 382 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 424 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=3 ms Completed: 3 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=213 ms Completed: 213 ms rowSize= 13.140 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 2.596 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.176 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Purine-nucleoside phosphorylase deficiency C0268125
Definition (1)
PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency.
Relationships (46)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 42
diso_​to_​gene : 2
diso_​to_​phen : 1


Relationships:
associated_​with : 2
gene_​associated_​with_​disease : 2
manifestation_​of : 41
replaces : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMassociated_withimg Purine-Nucleoside Phosphorylase C0034135
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Abnormal B cell function C1834099
DISO_to_DISOmanifestation_ofimg Anemia, Hemolytic, Autoimmune C0002880
DISO_to_DISOmanifestation_ofimg Angiitis, Cerebral C0238051
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Atrophic tonsils C1834107
DISO_to_DISOmanifestation_ofimg Autoimmune neutropenia C0340971
DISO_to_DISOmanifestation_ofimg Caused by mutation in the purine nucleoside phosphorylase gene (PNP, 164050.0001) C2750803
DISO_to_DISOmanifestation_ofimg Defective antibody production C1834100
DISO_to_DISOmanifestation_ofimg Enlarged Spleen C0038002
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOmanifestation_ofimg Frequent bacterial, viral, and opportunistic infections C1834093
DISO_to_DISOmanifestation_ofimg High serum guanosine levels C1834105
DISO_to_DISOmanifestation_ofimg High serum inosine levels C1834104
DISO_to_DISOmanifestation_ofimg High urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine C1834106
DISO_to_DISOmanifestation_ofimg Idiopathic thrombocytopenia C0920163
DISO_to_DISOmanifestation_ofimg Little's Disease C0023882
DISO_to_DISOmanifestation_ofimg Low serum uric acid C1834102
DISO_to_DISOmanifestation_ofimg Lower respiratory tract infection C0149725
DISO_to_DISOmanifestation_ofimg Lymphoma C0024299
DISO_to_DISOmanifestation_ofimg Lymphoma, Diffuse C0079734
DISO_to_DISOmanifestation_ofimg Lymphopenia C0024312
DISO_to_DISOmanifestation_ofimg Marked depletion of lymphoid tissues C1834096
DISO_to_DISOmanifestation_ofimg Markedly depressed T lymphocyte proportion C1834097
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanLOC647275647275purine nucleoside phosphorylase pseudogene
img GENERIF, Score=1000, Pubmed Id: 17641261, UMLKSK CUI: C0268125
HumanPNP4860purine nucleoside phosphorylase
img GENERIF, Score=1000, Pubmed Id: 15571269, UMLKSK CUI: C0268125
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268125Purine-nucleoside phosphorylase deficiency0self