SLC5A7

Hereditäre motorisch sensible Neuropathie, distal (dHMN)

BSCL2, DCTN1, DNAJB2, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, TRPV4

Spinale Muskelatrophie – adult

AARS, AR, ATP7A, BSCL2, DCTN1, DNAJB2, GARS1, HSPB1, HSPB3, HSPB8, REEP1, SETX, SLC5A7, SMN1, TRPV4, VAPB