AAAS - Gene browser

AAAS

aladin WD repeat nucleoporin

HCNC Approved Symbol: AAAS (HGNC:13666)
Genomic Coordinates: 12:53,307,460 - 53,321,610 (12q13.13)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the AAAS gene.

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

015
Patient count

Addison's disease: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Hyperpigmentation: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Alacrima: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Hyperkalemia: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Hyponatremia: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)