Disease Term Disease ID Gene Symbol References
MYOPATHY, DISTAL, TATEYAMA TYPE C3280443 CAV3 15580566, 18930476, 11805270
SSUH2
MYOPATHY, DISTAL, 4 C3279722 FLNC 26666891, 21520333, 27908349, 28008423, 21620354, 26436962, 25633252, 15929027
Distal Myopathy 1 C4552004 MYH7 19477645, 20186049, 21279644, 17548557, 25132132, 24300783, 10750581, 15322983, 11166161, 23290139, 27532257, 11102913, 23299917, 23283745
TTN 12145747
KLHL9-related early-onset distal myopathy C4706574, 399081 KLHL9 20554658
MYOPATHY, DISTAL, 5 C4310754 ADSS1 26506222, 28268051, 27868399
Distal myopathy, Welander type 603 TIA1
SQSTM1
Distal myopathy, Tateyama type 488650 CAV3
Laing early-onset distal myopathy 59135 MYH7
Late-onset distal myopathy, Markesbery-Griggs type 98912 LDB3
Adult-onset distal myopathy due to valosin containing protein mutation C4749506 VCP 21684747
Adult-onset distal myopathy due to VCP mutation 329478 VCP