COL11A2 — collagen type XI alpha 2 chain | MEDLIB

gene with protein productOMIM: 1202905 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4

Autosomal dominant otospondylomegaepiphyseal dysplasiaORPHA:166100

FibrochondrogenesisORPHA:2021

Rare autosomal dominant non-syndromic sensorineural deafness type DFNAORPHA:90635

Rare autosomal recessive non-syndromic sensorineural deafness type DFNBORPHA:90636

Disease-causing germline mutation(s) (loss of function) in1

Autosomal recessive otospondylomegaepiphyseal dysplasiaORPHA:1427

gene with protein productOMIM: 1202905 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)4

Autosomal dominant otospondylomegaepiphyseal dysplasiaORPHA:166100

FibrochondrogenesisORPHA:2021

Rare autosomal dominant non-syndromic sensorineural deafness type DFNAORPHA:90635

Rare autosomal recessive non-syndromic sensorineural deafness type DFNBORPHA:90636

Disease-causing germline mutation(s) (loss of function) in1

Autosomal recessive otospondylomegaepiphyseal dysplasiaORPHA:1427