SLC2A1
solute carrier family 2 member 1
Ассоциированные заболевания
Герминативная мутация (причина)6
Hereditary cryohydrocytosis with reduced stomatinORPHA:168577
→Alternating hemiplegia of childhoodORPHA:2131
→Epilepsy with myoclonic-atonic seizuresORPHA:1942
→Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityORPHA:53583
→Epilepsy with myoclonic absencesORPHA:86911
→Paroxysmal exertion-induced dyskinesiaORPHA:98811
→Disease-causing germline mutation(s) (loss of function) in1