AIRE - Gene browser

AIRE

autoimmune regulator

HCNC Approved Symbol: AIRE (HGNC:360)
Genomic Coordinates: 21:44,285,876 - 44,298,648 (21q22.3)
Synonyms: PGA1, APS1, APECED
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the AIRE gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

011
Patient count

Chronic mucocutaneous candidiasis: 5 (45.5%)
Patient Count: 5 (45.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (45.5%)
Autoimmunity: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Coagulation abnormalities: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Hepatic encephalopathy: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Hepatitis: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)