USH2A - Gene browser

USH2A

usherin

HCNC Approved Symbol: USH2A (HGNC:12601)
Genomic Coordinates: 1:215,622,891 - 216,423,448 (1q41)
Synonyms: RP39, USH2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

280Patients

In total, 280 patients were diagnosed with a variant in the USH2A gene.

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

0280
Patient count

Retinitis pigmentosa: 133 (47.5%)
Patient Count: 133 (47.5%)
% of total patients presenting each phenotype is shown in parentheses.
133 (47.5%)
Decreased visual acuity: 40 (14.3%)
Patient Count: 40 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
40 (14.3%)
Night blindness: 40 (14.3%)
Patient Count: 40 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
40 (14.3%)
Hearing loss: 32 (11.4%)
Patient Count: 32 (11.4%)
% of total patients presenting each phenotype is shown in parentheses.
32 (11.4%)
Retinal dystrophy: 22 (7.9%)
Patient Count: 22 (7.9%)
% of total patients presenting each phenotype is shown in parentheses.
22 (7.9%)