ADA2 wt Allele

Preferred Label : ADA2 wt Allele;

NCIt synonyms : IDGFL; SNEDS; Cat Eye Syndrome Chromosome Region, Candidate 1 Gene; PAN; CECR1; ADGF; Adenosine Deaminase 2 wt Allele; VAIHS;

NCIt definition : Human ADA2 wild-type allele is located in the vicinity of 22q11.1 and is approximately 79 kb in length. This allele, which encodes adenosine deaminase 2 protein, is involved in adenosine metabolism. Mutation of the gene is associated with Sneddon syndrome and vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS). Amplification of the region including this gene is caused by a supernumerary bisatellited isodicentric chromosomal abnormality and is associated with Cat Eye Syndrome.;

NCI Metathesaurus CUI : CL1407462;

GenBank Accession Number : AF190746;

Détails

Origin ID

C173460;

UMLS CUI

C5401218;

Automatic exact mappings (from CISMeF team)
- Adenosine deaminase 2 [OMIM gene]
- PAN-based carbon fibres [IUPAC Term]
- Polyarteritis nodosa [ICD-11 Subcategory]
- Polyarteritis nodosa [ORDO Disease]
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome [OMIM Phenotype]
- adenosine deaminase 2 [ORDO Gene]
- polyarteritis nodosa [MeSH Descriptor]
- proteasome-activating nucleotidase complex [GO term]
- rayon-based carbon fibres [IUPAC Term]
OMIM relation
- Adenosine deaminase 2 [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
- Purine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

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