PNP Gene - CISMeF

Preferred Label : PNP Gene;

NCIt synonyms : NP Gene; Purine Nucleoside Phosphorylase Gene;

NCIt related terms : PNP;

CISMeF acronym : PNP;

NCIt definition : This gene is involved in purine catabolism.;

Details

Origin ID

C43239;

UMLS CUI

C1417772;

HGNC gene
- purine nucleoside phosphorylase [HGNC gene]
OMIM relation
- Purine nucleoside phosphorylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Purine nucleoside phosphorylase [OMIM gene]
- purine nucleoside phosphorylase [HGNC gene]
gene_associated_with_disease
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]
- Severe Combined Immunodeficiency [NCIt concept]
gene_encodes_gene_product
- Purine Nucleoside Phosphorylase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Purine Nucleoside Phosphorylase Deficiency [NCIt concept]
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
genetic_biomarker_related_to
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]

Keyword's position in hierarchy(ies) :

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