GJB2
gap junction protein beta 2
Ассоциированные заболевания
Герминативная мутация (причина)6
KID syndromeORPHA:477
→Keratoderma hereditarium mutilansORPHA:494
→Palmoplantar keratoderma-deafness syndromeORPHA:2202
→Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeORPHA:2698
→Rare autosomal dominant non-syndromic sensorineural deafness type DFNAORPHA:90635
→Rare autosomal recessive non-syndromic sensorineural deafness type DFNBORPHA:90636
→Соматическая мутация (причина)1