EYA1 - Gene browser

EYA1

EYA transcriptional coactivator and phosphatase 1

HCNC Approved Symbol: EYA1 (HGNC:3519)
Genomic Coordinates: 8:71,197,433 - 71,548,094 (8q13.3)
Synonyms: BOR
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the EYA1 gene.

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

014
Patient count

Hearing impairment: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Hearing loss: 4 (28.6%)
Patient Count: 4 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
4 (28.6%)
Preauricular sinus: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Hearing abnormality: 1 (7.1%)
Patient Count: 1 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (7.1%)
Proteinuria: 1 (7.1%)
Patient Count: 1 (7.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (7.1%)