← Назад

Pulverulent cataract

ORPHA:98984Clinical subtypeAutosomal dominant, Autosomal recessiveInfancy, Neonatal

Ассоциированные гены (9)

BFSP2
beaded filament structural protein 2
Disease-causing germline mutation(s) in
OMIM: 603212
CRYBB2
crystallin beta B2
Disease-causing germline mutation(s) in
OMIM: 123620
CRYGC
crystallin gamma C
Disease-causing germline mutation(s) in
OMIM: 123680
CRYGD
crystallin gamma D
Disease-causing germline mutation(s) in
OMIM: 123690
GJA3
gap junction protein alpha 3
Disease-causing germline mutation(s) in
OMIM: 121015
GJA8
gap junction protein alpha 8
Disease-causing germline mutation(s) (loss of function) in
OMIM: 600897
CRYBB1
crystallin beta B1
Disease-causing germline mutation(s) in
OMIM: 600929
MAF
MAF bZIP transcription factor
Disease-causing germline mutation(s) in
OMIM: 177075
VIM
vimentin
Disease-causing germline mutation(s) in
OMIM: 193060

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы