ALMS1 - Gene browser

ALMS1

ALMS1 centrosome and basal body associated protein

HCNC Approved Symbol: ALMS1 (HGNC:428)
Genomic Coordinates: 2:73,385,758 - 73,609,919 (2p13.1)
Synonyms: KIAA0328
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

27Patients

In total, 27 patients were diagnosed with a variant in the ALMS1 gene.

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

027
Patient count

Hearing impairment: 5 (18.5%)
Patient Count: 5 (18.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (18.5%)
Obesity: 5 (18.5%)
Patient Count: 5 (18.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (18.5%)
Retinitis pigmentosa: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Congenital amaurosis: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)
Congenital blindness: 4 (14.8%)
Patient Count: 4 (14.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (14.8%)