COL9A2 - Gene browser | 3billion

COL9A2

COL9A2

collagen type IX alpha 2 chain

HCNC Approved Symbol: COL9A2 (HGNC:2218)
Genomic Coordinates: 1:40,300,489 - 40,317,286 (1p34.2)
Synonyms: MED, EDM2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the COL9A2 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

Epiphyseal dysplasia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Skeletal dysplasia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Short stature: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Multiple epiphyseal dysplasia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

COL9A2 - Gene browser | 3billion