DPYD Gene - CISMeF

Preferred Label : DPYD Gene;

NCIt synonyms : Dihydropyrimidine Dehydrogenase Gene;

NCIt related terms : DPYD;

CISMeF acronym : DPYD;

NCIt definition : This gene is involved in pyrimidine catabolism.;

Details

Origin ID

C26542;

UMLS CUI

C1366555;

Automatic exact mappings (from CISMeF team)
- DPYD gene [LOINC component]
- Dihydropyrimidine dehydrogenase [OMIM gene]
- dihydropyrimidine dehydrogenase [ORDO Gene]
HGNC gene
- dihydropyrimidine dehydrogenase [HGNC gene]
OMIM relation
- Dihydropyrimidine dehydrogenase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- DPYD gene [LOINC component]
- Dihydropyrimidine dehydrogenase [OMIM gene]
- dihydropyrimidine dehydrogenase [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
- Dihydropyrimidine Dehydrogenase Deficiency [NCIt concept]
gene_encodes_gene_product
- Dihydropyrimidine Dehydrogenase [NADP(+)] [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- DPYD Exon 14 Skipping Mutation [NCIt concept]
- DPYD Gene Mutation [NCIt concept]
- DPYD NM_000110.3:c.1627A>G [NCIt concept]
- DPYD NM_000110.4:c.1236G>A [NCIt concept]
- DPYD NM_000110.4:c.1679T>G [NCIt concept]
- DPYD NM_000110.4:c.1905+1G>A [NCIt concept]
- DPYD NM_000110.4:c.2846A>T [NCIt concept]
- DPYD NM_000110.4:c.557A>G [NCIt concept]
- DPYD NP_000101.2:p.D949V [NCIt concept]
- DPYD NP_000101.2:p.I543V [NCIt concept]
- DPYD NP_000101.2:p.I560S [NCIt concept]
- DPYD NP_000101.2:p.Y186C [NCIt concept]
- DPYD Protein Variant [NCIt concept]
gene_mapped_to_disease
- Dihydropyrimidine Dehydrogenase Deficiency [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
genetic_biomarker_related_to
- DPYD Gene Variants Found [Identifier] in Blood or Tissue by Molecular Genetics Method Nominal [NCIt concept]
- DPYD Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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