COL9A3 - Gene browser | 3billion

COL9A3

COL9A3

collagen type IX alpha 3 chain

HCNC Approved Symbol: COL9A3 (HGNC:2219)
Genomic Coordinates: 20:62,816,213 - 62,841,159 (20q13.33)
Synonyms: IDD, MED, EDM3, FLJ90759, DJ885L7.4.1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the COL9A3 gene.

Frequently observed phenotypes(Top 5 only)

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

04
Patient count

Fibular hypoplasia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Epiphyseal dysplasia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Delayed carpal bone age: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Short stature: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)

Last updated: 2024-06-30

COL9A3 - Gene browser | 3billion