ADA wt Allele - CISMeF

Preferred Label : ADA wt Allele;

NCIt synonyms : Adenosine Deaminase wt Allele;

NCIt definition : Human ADA wild-type allele is located within 20q12-q13.11 and is approximately 32 kb in length. This allele, which encodes adenosine deaminase protein, is involved in the hydrolysis of adenosine to inosine. Certain allelic variants of the ADA gene are associated with adenosine deaminase deficiency which, in some cases, causes autosomal recessive severe combined immunodeficiency.;

GenBank Accession Number : X02994;

Détails

Origin ID

C49349;

UMLS CUI

C1706641;

OMIM relation
- Adenosine 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_associated_with_disease
- Severe Combined Immunodeficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 20: 42723790-42681578 [NCIt concept]
gene_in_chromosomal_location
- 20q12-q13.11 [NCIt concept]
gene_is_element_in_pathway
- Purine 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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