Disease Term Disease ID Gene Symbol References
Distal Spinal Muscular Atrophy C0393541 IGHMBP2 24388491, 14506069
SMN1 21819082, 15862279, 19150990, 21350916, 27111068
SMN2 21350916
TDRKH
PLEKHG5 17564964
TRPV4 22187434