Disease Term Disease ID Gene Symbol References
Myofibrillar Myopathy C2678065 ACTA1
AKT1
CFL2
CRYAB 11577372
DES 20718792, 10545598, 30055862
FHL1
FLNC
PTEN
TTN 28716623
TTR 29941560
MYOT
BAG3 25728519, 20884878, 26545904, 25208129, 16936253, 27443559, 20605452, 22734908, 19085932
MATR3 19344878
DNAJB6
LDB3
PYROXD1
KLHL40
KY
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED C1832370 DES 16376610, 9736733, 23815709, 10905661, 20448486, 27532257, 25358400, 14648196, 17221859, 20423733, 15800015, 11061256, 26633545, 26789769, 10545598, 22153487, 22403400, 27393313, 25394388, 19879535, 1544366, 23687351, 12766977, 11073539, 18061454, 23349452, 23425003, 18653338, 28470624, 12620971, 15495235, 17720647, 22106715, 27854218, 16009553, 27733623, 19716701, 22215463, 17418574, 22484823, 21262226, 11668632, 16217025, 20171226, 10717012, 22395865, 20186049, 14724127, 16890305, 20718792, 20696008, 17439987, 19763525, 14991347, 2673923, 9697706, 19181099, 16865695, 23615443, 15050448, 14711882, 23032110, 22275259, 19587455, 29212896, 25557463, 23155419, 20829228, 19105189, 30055862, 18765652
MYOPATHY, MYOFIBRILLAR, 7 C4310711 EPHB1
KY 27484770, 27485408
Filaminopathy, autosomal dominant C1836050 FLNC 29858533, 25633252, 10658210, 21520333, 27908349, 22806379, 26436962, 28008423, 22961544, 27633507, 26666891, 15929027, 19050726, 16914736, 9791010, 26472074, 23109048, 18055494, 20417099
MYOPATHY, MYOFIBRILLAR, 3 C3714934 MYOT 12428213, 19225410, 9027924, 10958653, 25208129, 16793270, 15111675, 19590214, 15947064, 16801328, 21361873, 21676617, 26842778, 16684602, 27854214, 3275904, 26342832, 22349301
Myopathy, Myofibrillar, Bag3-Related C2751831 BAG3 21676617, 19085932, 2159883, 26545904, 21353195, 22734908, 25008357, 28211974, 25208129, 20605452, 27321750, 25448463, 27443559, 21898660, 25728519, 28754666, 21361913, 25273835, 20884878
Myopathy, Myofibrillar, Zasp-Related C1836155 LDB3 20809097
MYOPATHY, MYOFIBRILLAR, 4 C4721886 LDB3 15668942
MYOPATHY, MYOFIBRILLAR, 8 C4310645 PYROXD1 31455395, 27745833, 30345904, 30515627