Congenital Structural Myopathy Gene Set
Genes
18 genes associated with the disease Congenital Structural Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
AMPH
|
amphiphysin
|
|
BIN1
|
bridging integrator 1
|
|
CCDC78
|
coiled-coil domain containing 78
|
|
DES
|
desmin
|
|
DNM2
|
dynamin 2
|
|
MTM1
|
myotubularin 1
|
|
MTMR12
|
myotubularin related protein 12
|
|
MTMR14
|
myotubularin related protein 14
|
|
MTMR2
|
myotubularin related protein 2
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SELENON
|
selenoprotein N
|
|
STIM1
|
stromal interaction molecule 1
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
VIM
|
vimentin
|
