Disease Term Disease ID Gene Symbol References
HMN (Hereditary Motor Neuropathy) Proximal Type I C0043116 DYNC1H1
NAIP 11912351
SMN1 7813012, 15580564, 15249625, 9147655, 17924536, 8922999, 21389246, 21088113, 10732817, 14715275, 8787675, 11826188
SMN2 10732817, 15580564, 7813012, 8922999