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 |