Disease Term Disease ID Gene Symbol References
Muscular Dystrophy C0026850 ACHE 22906800
NR0B1
AHCY
BCHE 22906800
BUB1
BUB1B
CAPN3
CAV3
CHKB
COL4A1
COL6A1 20716577
COL6A2
COL6A3
COL12A1
CRYAB
DAG1
DMD 10797403, 17440445, 20805873, 22906800
FKTN 16531417
GK
HNRNPA1
HNRNPA2B1
LAMA2 18074402, 22906800
LMNA
NEB
PLEC
PMM2
RYR1
SGCA
SGCB
SGCD
SGCG
TTN
DYSF
TCAP
DPM1
BUB3
LARGE1
TRIP13
TRIP4
BAG3
CEP57
DNAJB6
RXYLT1
POMT1
B4GAT1
BVES
PNKP
TRIM32
SYNE2
SYNE1
TNPO3
TOR1AIP1
PHGDH
HSPB8 29029362, 28501893, 26976520
GMPPB 26133662, 27874200, 26310427, 27766311, 27527004, 27147698, 23768512, 25681410
POMT2
PSAT1
INPP5K
DPM3
RIF1
POMGNT1
LIMS2
SELENON 17123513
PIEZO2
SIL1
FKRP
TMEM43
PYROXD1
POMK
POMGNT2
PRIMA1 22906800
B3GALNT2
ANO5 25891276
CAVIN1
DOK7
CRPPA
TTN-AS1
Muscular Dystrophy, Scapulohumeral C0410192 FRG1
SMCHD1
Muscular dystrophy, Selcen type 199340 BAG3
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) C0410173 SGCG 9266733, 16832103, 11801399, 20623375, 27708273, 24638197, 17897828, 19770540, 12566530, 12040521, 10942431, 24534832, 7481775, 18285821, 20345928, 9673983, 25802879, 24552312, 25605665, 22095924, 23929688, 8968757, 22240777, 10714584, 9781048, 14981741, 30345904, 8923014, 9658457