AIPL1 - Gene browser

AIPL1

aryl hydrocarbon receptor interacting protein like 1

HCNC Approved Symbol: AIPL1 (HGNC:359)
Genomic Coordinates: 17:6,423,738 - 6,435,121 (17p13.2)
Synonyms: LCA4
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the AIPL1 gene.

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

017
Patient count

Visual impairment: 6 (35.3%)
Patient Count: 6 (35.3%)
% of total patients presenting each phenotype is shown in parentheses.
6 (35.3%)
Abnormal retinal morphology: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Ird: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Retinal disease: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Retinitis pigmentosa: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)