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.

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Disease NameOMIM IDInheritance

Deafness, autosomal dominant 13

601868AD

Deafness, autosomal recessive 53

609706AR

Fibrochondrogenesis 2

614524AD; AR

Otospondylomegaepiphyseal dysplasia, autosomal dominant

184840AD

Otospondylomegaepiphyseal dysplasia, autosomal recessive

215150AR