autoimmune regulator

Preferred Label : autoimmune regulator;

Approved symbol HGNC : AIRE;

Name synonyms HGNC : autoimmune polyendocrinopathy candidiasis ectodermal dystrophy;

Alias symbols HGNC : PGA1; APS1;

Chromosome HGNC : 21q22.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000160224;

Details

Origin ID

HGNC:360;

UMLS CUI

C1412304;

Automatic exact mappings (from CISMeF team)
- Autoimmune Regulator [NCIt concept]
- Autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia [OMIM Phenotype]
- Autoimmune regulator [OMIM gene]
- autoimmune regulator [ORDO Gene]
- polyendocrinopathies, autoimmune [MeSH Descriptor]
NCIt concept
- AIRE Gene [NCIt concept]
OMIM gene
- Autoimmune regulator [OMIM gene]
Orphanet gene
- autoimmune regulator [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- AIRE Gene [NCIt concept]
- AIRE gene [LOINC component]
- Autoimmune regulator [OMIM gene]

Keyword's position in hierarchy(ies) :

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