GART wt Allele

Preferred Label : GART wt Allele;

NCIt synonyms : Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase wt Allele; PRGS; Phosphoribosylglycinamide Formyltransferase/Phosphoribosylglycinamide Synthetase/Phosphoribosylaminoimidazole Synthetase Gene; GARS; PAIS; PGFT; GARFT; AIRS; GARTF;

NCIt definition : Human GART wild-type allele is located in the vicinity of 21q22.11 and is approximately 40 kb in length. This allele, which encodes trifunctional purine biosynthetic protein adenosine-3, plays a role in the synthesis of purines.;

NCI Metathesaurus CUI : CL512279;

GenBank Accession Number : M32082;

Details

Origin ID

C128849;

UMLS CUI

C4283928;

Automatic exact mappings (from CISMeF team)
- Androgen insensitivity, partial [OMIM Phenotype]
- Glycyl-trna synthetase 1 [OMIM gene]
- Partial androgen insensitivity syndrome [ORDO Disease]
- Phosphoribosylglycinamide formyltransferase/phosphoribosylglycinamide synthetase/phosphoribosylaminoimidazole synthetase [OMIM gene]
- W air [LOINC Challenge]
- glycyl-tRNA synthetase 1 [ORDO Gene]
OMIM relation
- Phosphoribosylglycinamide formyltransferase/phosphoribosylglycinamide synthetase/phosphoribosylaminoimidazole synthetase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 21q22.11 [NCIt concept]
gene_is_element_in_pathway
- One Carbon Pool by Folate Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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