PAX6 - Gene browser

PAX6

paired box 6

HCNC Approved Symbol: PAX6 (HGNC:8620)
Genomic Coordinates: 11:31,789,026 - 31,817,961 (11p13)
Synonyms: D11S812E, AN, WAGR, AN1, AN2
Disease Associations: This gene is associated with the following 9 diseases in OMIM.

Diagnosed Cases

19Patients

In total, 19 patients were diagnosed with a variant in the PAX6 gene.

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

019
Patient count

Aniridia: 13 (68.4%)
Patient Count: 13 (68.4%)
% of total patients presenting each phenotype is shown in parentheses.
13 (68.4%)
Nystagmus: 5 (26.3%)
Patient Count: 5 (26.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (26.3%)
Macular hypoplasia: 2 (10.5%)
Patient Count: 2 (10.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.5%)
Partial aniridia: 2 (10.5%)
Patient Count: 2 (10.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.5%)
Strabismus: 2 (10.5%)
Patient Count: 2 (10.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (10.5%)