3billion
back to listBack to List

CACNA2D4

calcium voltage-gated channel auxiliary subunit alpha2delta 4

HCNC Approved Symbol
CACNA2D4 (HGNC:20202)
Genomic Coordinates
12:1,791,963 - 1,918,652 (12p13.33)
Synonyms
alpha2delta-4
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the CACNA2D4 gene.

Frequently observed phenotypes

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

Diabetes
 2 (40.0%)
Retinal dystrophy
 1 (20.0%)
Cone rod dystrophy
 1 (20.0%)
Cone-rod dystrophy
 1 (20.0%)
Macular degeneration
 1 (20.0%)
CACNA2D4 - Gene browser | 3billion