PNP wt Allele - CISMeF

Preferred Label : PNP wt Allele;

NCIt synonyms : PRO1837; NP wt Allele; PUNP; Purine Nucleoside Phosphorylase wt Allele; NP; Nucleoside Phosphorylase Gene;

NCIt definition : Human PNP wild-type allele is located in the vicinity of 14q13.1 and is approximately 8 kb in length. This allele, which encodes purine nucleoside phosphorylase protein, plays a role in the release of a purine from a purine nucleoside. Certain allelic variants of the PNP gene cause nucleoside phosphorylase deficiency, resulting in severe T-cell immunodeficiency with neurologic disorder in children.;

GenBank Accession Number : NM_000270;

Details

Origin ID

C51016;

UMLS CUI

C1706141;

Automatic exact mappings (from CISMeF team)
- No past history of (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Purine nucleoside phosphorylase [OMIM gene]
- nanoparticles [MeSH Descriptor]
- nucleoproteins [MeSH Descriptor]
- purine nucleoside phosphorylase [ORDO Gene]
OMIM relation
- Purine nucleoside phosphorylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Purine-Nucleoside Phosphorylase Deficiency [NCIt concept]
- Severe Combined Immunodeficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q13.1 [NCIt concept]
gene_is_element_in_pathway
- Nicotinate and Nicotinamide Metabolism Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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