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ABCB6

ATP binding cassette subfamily B member 6 (LAN blood group)

gene with protein productOMIM: 6054529 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)8
Dyschromatosis universalis hereditariaORPHA:241
→
Coloboma of choroid and retinaORPHA:98942
→
Colobomatous microphthalmiaORPHA:98938
→
Coloboma of optic discORPHA:98947
→
Coloboma of maculaORPHA:98945
→
Coloboma of eyelidORPHA:98946
→
Coloboma of eye lensORPHA:98943
→
Coloboma of irisORPHA:98944
→
Disease-causing germline mutation(s) (gain of function) in1
Familial pseudohyperkalemiaORPHA:90044
→
Данные: Orphadata (CC-BY-4.0)