Disease Term Disease ID Gene Symbol References
Welander Distal Myopathy C0221054 MYH7
TIA1 27282841, 23401021, 23348830, 29457785, 10482271, 28817800
TTN 12145747
SQSTM1 29457785
C2orf42 23401021, 10482271, 27282841, 28817800, 23348830
Welander distal myopathy, Swedish type C2931290 TIA1 23401021, 29457785, 23348830
SQSTM1 29457785