KCNJ11
potassium inwardly rectifying channel subfamily J member 11
Ассоциированные заболевания
Герминативная мутация (причина)6
Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyORPHA:276580
→Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiencyORPHA:276603
→MODYORPHA:552
→Autosomal recessive hyperinsulinism due to Kir6.2 deficiencyORPHA:79644
→Isolated permanent neonatal diabetes mellitusORPHA:99885
→Transient neonatal diabetes mellitusORPHA:99886
→Disease-causing germline mutation(s) (gain of function) in2