COL11A1 - Gene browser

COL11A1

collagen type XI alpha 1 chain

HCNC Approved Symbol: COL11A1 (HGNC:2186)
Genomic Coordinates: 1:102,876,473 - 103,108,522 (1p21.1)
Synonyms: STL2, CO11A1, COLL6, DFNA37
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

26Patients

In total, 26 patients were diagnosed with a variant in the COL11A1 gene.

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

026
Patient count

Hearing loss: 7 (26.9%)
Patient Count: 7 (26.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (26.9%)
Hearing impairment: 5 (19.2%)
Patient Count: 5 (19.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (19.2%)
Cleft palate: 4 (15.4%)
Patient Count: 4 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (15.4%)
Hypertelorism: 3 (11.5%)
Patient Count: 3 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.5%)
Micrognathia: 3 (11.5%)
Patient Count: 3 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (11.5%)