Disease Term Disease ID Gene Symbol References
Scapuloperoneal Form of Spinal Muscular Atrophy C0751335 SMN1 21819082, 15862279, 27111068, 19150990, 21350916
SMN2 21350916
TRPV4 22187434, 20037587, 20037588, 22702953
Scapuloperoneal spinal muscular atrophy 431255 TRPV4