HPRT1 Gene - CISMeF

Preferred Label : HPRT1 Gene;

NCIt synonyms : Hypoxanthine Phosphoribosyltransferase 1 (Lesch-Nyhan Syndrome) Gene;

NCIt related terms : HPRT1;

CISMeF acronym : HPRT1;

NCIt definition : This gene is involved in purine/pyrimidine metabolism.;

NCIt note : Gene_Has_Function: Purine Salvage;

Details

Origin ID

C38495;

UMLS CUI

C1415701;

HGNC gene
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]
OMIM relation
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HPRT1 gene [LOINC component]
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Gout [NCIt concept]
gene_encodes_gene_product
- Hypoxanthine-Guanine Phosphoribosyltransferase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Lesch-Nyhan Syndrome [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
genetic_biomarker_related_to
- Hypoxanthine-Guanine Phosphoribosyltransferase Measurement [NCIt concept]

Keyword's position in hierarchy(ies) :

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