COL2A1 - Gene browser

COL2A1

collagen type II alpha 1 chain

HCNC Approved Symbol: COL2A1 (HGNC:2200)
Genomic Coordinates: 12:47,972,967 - 48,006,212 (12q13.11)
Synonyms: STL1, SEDC, AOM
Disease Associations: This gene is associated with the following 15 diseases in OMIM.

Diagnosed Cases

84Patients

In total, 84 patients were diagnosed with a variant in the COL2A1 gene.

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

084
Patient count

Skeletal dysplasia: 15 (17.9%)
Patient Count: 15 (17.9%)
% of total patients presenting each phenotype is shown in parentheses.
15 (17.9%)
Cleft palate: 13 (15.5%)
Patient Count: 13 (15.5%)
% of total patients presenting each phenotype is shown in parentheses.
13 (15.5%)
High myopia: 10 (11.9%)
Patient Count: 10 (11.9%)
% of total patients presenting each phenotype is shown in parentheses.
10 (11.9%)
Retinal detachment: 9 (10.7%)
Patient Count: 9 (10.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (10.7%)
Pectus carinatum: 9 (10.7%)
Patient Count: 9 (10.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (10.7%)