ABCA5 - Gene browser | 3billion

ABCA5

ABCA5

ATP binding cassette subfamily A member 5

HCNC Approved Symbol: ABCA5 (HGNC:35)
Genomic Coordinates: 17:69,244,311 - 69,327,133 (17q24.3)
Synonyms: EST90625
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ABCA5 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Global developmental delay: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Hypertrichosis: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

ABCA5 - Gene browser | 3billion