PGM3 wt Allele

Preferred Label : PGM3 wt Allele;

NCIt synonyms : DKFZP434B187; PAGM; Phosphoglucomutase 3 wt Allele; IMD23; PGM 3; AGM1;

NCIt definition : Human PGM3 wild-type allele is located in the vicinity of 6q14.1 and is approximately 43 kb in length. This allele, which encodes phosphoacetylglucosamine mutase protein, is involved in the metabolism of phosphoglucose. Polymorphism in the gene is associated with resistance to diabetic nephropathy and neuropathy. Mutation of the gene is associated with immunodeficiency 23.;

NCI Metathesaurus CUI : CL1642443;

GenBank Accession Number : BC001258;

Details

Origin ID

C176560;

UMLS CUI

C5443866;

Automatic exact mappings (from CISMeF team)
- Agammaglobulinemia 1, autosomal recessive [OMIM Phenotype]
- Immunodeficiency 23 [OMIM Phenotype]
- Phosphoglucomutase 3 [OMIM gene]
- immunodeficiency 23 [DO Concept]
- phosphoglucomutase 3 [ORDO Gene]
OMIM relation
- Phosphoglucomutase 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q14.1 [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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