GSR wt Allele - CISMeF

Preferred Label : GSR wt Allele;

NCIt synonyms : HEL-S-122m; GRD1; HEL-75; GLUR; Glutathione S-Reductase Gene; Glutathione-Disulfide Reductase wt Allele; Glutathione Reductase Gene; GR;

NCIt definition : Human GSR wild-type allele is located in the vicinity of 8p12 and is approximately 50 kb in length. This allele, which encodes glutathione reductase, mitochondrial protein, is involved in cellular glutathione homeostasis. Mutation of the gene is associated with hemolytic anemia due to hereditary glutathione reductase deficiency.;

NCI Metathesaurus CUI : CL936033;

GenBank Accession Number : NM_000637;

Details

Origin ID

C157041;

UMLS CUI

C4723764;

Automatic exact mappings (from CISMeF team)
- Glutathione reductase [LOINC component]
- Graves disease, susceptibility to, 1 [OMIM Phenotype]
- Nuclear receptor subfamily 3, group C, member 1 [OMIM gene]
- erythrocytes [MeSH Descriptor]
- glutathione reductase [MeSH Descriptor]
- nuclear receptor subfamily 3 group C member 1 [ORDO Gene]
OMIM relation
- Glutathione reductase [OMIM Phenotype]
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
- 8p12 [NCIt concept]
gene_is_element_in_pathway
- Free Radical Induced Apoptosis Pathway [NCIt concept]
- Glutathione Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Homeostatic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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