COL11A2 - Gene browser

COL11A2

collagen type XI alpha 2 chain

HCNC Approved Symbol: COL11A2 (HGNC:2187)
Genomic Coordinates: 6:33,162,694 - 33,193,519 (6p21.32)
Synonyms: HKE5, DFNA13, DFNB53
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the COL11A2 gene.

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

010
Patient count

Hearing impairment: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Hearing loss: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Deafness: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Limb undergrowth: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Short limbs: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)