ABCA4 - Gene browser

ABCA4

ATP binding cassette subfamily A member 4

HCNC Approved Symbol: ABCA4 (HGNC:34)
Genomic Coordinates: 1:93,992,834 - 94,121,148 (1p22.1)
Synonyms: FFM, ARMD2, CORD3, STGD1, ABCR, RP19, STGD
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

312Patients

In total, 312 patients were diagnosed with a variant in the ABCA4 gene.

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

0312
Patient count

Retinal dystrophy: 68 (21.8%)
Patient Count: 68 (21.8%)
% of total patients presenting each phenotype is shown in parentheses.
68 (21.8%)
Retinitis pigmentosa: 63 (20.2%)
Patient Count: 63 (20.2%)
% of total patients presenting each phenotype is shown in parentheses.
63 (20.2%)
Macular degeneration: 40 (12.8%)
Patient Count: 40 (12.8%)
% of total patients presenting each phenotype is shown in parentheses.
40 (12.8%)
Night blindness: 36 (11.5%)
Patient Count: 36 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
36 (11.5%)
Retinal disease: 34 (10.9%)
Patient Count: 34 (10.9%)
% of total patients presenting each phenotype is shown in parentheses.
34 (10.9%)