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AIRE

Gene

autoimmune regulator

HGNCHGNC:360EnsemblENSG00000160224NCBI Gene326
Locus: gene with protein productLocation: 21q22.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asAPECED · PGA1 · APS1
View full nomenclature history (5)
Previous symbolsAPECED
Alias symbolsPGA1, APS1
Previous namesautoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
Alias namesautoimmune polyendocrinopathy candidiasis ectodermal dystrophy

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Arthritis, Rheumatoid
Genetic Diseases, Inborn
Neurodegenerative Diseases
Retinal Diseases
Adrenal Insufficiency

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

PHD finger proteinsSAND domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-03-15.
Open TargetsGene–disease associations from the Open Targets Platform.