EPHA2 - Gene browser | 3billion

EPHA2

EPHA2

EPH receptor A2

HCNC Approved Symbol: EPHA2 (HGNC:3386)
Genomic Coordinates: 1:16,124,337 - 16,156,069 (1p36.13)
Synonyms: ECK
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the EPHA2 gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Bilateral congenital cataracts: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Congenital cataract: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

EPHA2 - Gene browser | 3billion