CFTR — CF transmembrane conductance regulator | MEDLIB

gene with protein productOMIM: 6024216 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Ген-кандидат3

Aquagenic palmoplantar keratodermaORPHA:498359

Idiopathic bronchiectasisORPHA:60033

Autosomal recessive hereditary chronic pancreatitisORPHA:700124

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

Cystic fibrosisORPHA:586

Герминативная мутация (причина)1

Congenital bilateral absence of vas deferensORPHA:48

Основной фактор предрасположенности1

Male infertility with azoospermia or oligozoospermia due to single gene mutationORPHA:399805

gene with protein productOMIM: 6024216 заболеваний

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Ген-кандидат3

Aquagenic palmoplantar keratodermaORPHA:498359

Idiopathic bronchiectasisORPHA:60033

Autosomal recessive hereditary chronic pancreatitisORPHA:700124

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

Cystic fibrosisORPHA:586

Герминативная мутация (причина)1

Congenital bilateral absence of vas deferensORPHA:48

Основной фактор предрасположенности1

Male infertility with azoospermia or oligozoospermia due to single gene mutationORPHA:399805