Congenital myopathy with fiber type disproportion
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Congenital Fiber Type Disproportion | C0546264 | ACTA1 | 15468086, 16945537, 10508519, 17387733, 20179953 |
| BIN1 | 17676042 | ||
| DNM2 | 17376685 | ||
| ITGA7 | 23800289 | ||
| LMNA | 24642510 | ||
| MTM1 | 17376685 | ||
| MYH7 | |||
| MYL2 | 23365102 | ||
| RYR1 | 17376685 | ||
| STIM1 | |||
| TPM2 | 22832343 | ||
| TPM3 | 18300303, 23886664, 20554445, 24692096, 26307083, 22749829, 24095155, 19953533, 12467750, 20951040, 17376686, 19487656, 19553118, 24507666, 21357678, 24642510, 27363342, 22798622 | ||
| HACD1 | 23933735 | ||
| MAP3K20 | 27816943 | ||
| SELENON | 12192640, 16365872, 15668457, 17951086, 23394784 | ||
| MTMR14 | |||
| ORAI1 | |||
| CCDC78 | |||
| Congenital fiber-type disproportion myopathy | 2020 | MAP3K20 | |
| ACTA1 | |||
| SELENON | |||
| TPM2 | |||
| TPM3 | |||
| MYL2 | |||
| ITGA7 | |||
| HACD1 |