CDA wt Allele - CISMeF

Preferred Label : CDA wt Allele;

NCIt synonyms : CDD; Cytidine Deaminase wt Allele;

NCIt definition : Human CDA wild-type allele is located within 1p36.2-p35 and is approximately 30 kb in length. This allele, which encodes cytidine deaminase protein, plays a role in the regulation of pyrimidine metabolism. Mutation of the gene is associated with decreased sensitivity to the cytosine arabinoside that is used in the treatment of certain childhood leukemias.;

GenBank Accession Number : BC054036;

Détails

Origin ID

C79077;

UMLS CUI

C2698602;

Automatic exact mappings (from CISMeF team)
- Aplasia of diaphragm (disorder) [SNOMED CT concept]
- CDD ID [EDAM data]
- CDKL5-deficiency disorder [ORDO Disease]
- Craniodiaphyseal dysplasia [OMIM Phenotype]
- Craniodiaphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- Structural developmental anomalies of diaphragm [ICD-11 Category]
OMIM relation
- Cytidine deaminase [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_is_element_in_pathway
- Pyrimidine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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