PAX6
paired box 6
Ассоциированные заболевания
Герминативная мутация (причина)10
Aniridia-cerebellar ataxia-intellectual disability syndromeORPHA:1065
→Foveal hypoplasia-presenile cataract syndromeORPHA:2253
→Autosomal dominant keratitisORPHA:2334
→Peters anomalyORPHA:708
→Coloboma of choroid and retinaORPHA:98942
→Coloboma of optic discORPHA:98947
→Coloboma of maculaORPHA:98945
→Coloboma of eyelidORPHA:98946
→Coloboma of eye lensORPHA:98943
→Coloboma of irisORPHA:98944
→Роль в фенотипе1
Disease-causing germline mutation(s) (loss of function) in1
Ген-кандидат1