Centronuclear myopathy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Centronuclear myopathy | C0175709 | ACTA1 | |
| BIN1 | 17676042 | ||
| DNM2 | 17932957, 17376685 | ||
| MTM1 | 17376685 | ||
| MYH7 | |||
| RYR1 | 17376685 | ||
| STIM1 | |||
| TPM2 | |||
| TPM3 | |||
| TTN | 22335739, 25589632 | ||
| SELENON | |||
| MTMR14 | 19465920 | ||
| ORAI1 | |||
| CCDC78 | 22818856, 25635128 | ||
| TTN-AS1 | 25589632, 22335739 | ||
| Autosomal Recessive Centronuclear Myopathy | C3645536, 169186 | ACTA1 | |
| BIN1 | 17676042 | ||
| DNM2 | 17376685 | ||
| MTM1 | 17376685 | ||
| MYH7 | |||
| RYR1 | 17376685, 20839240 | ||
| STIM1 | |||
| TPM2 | |||
| TPM3 | |||
| TTN | 23975875 | ||
| SPEG | 25087613 | ||
| SELENON | |||
| MTMR14 | |||
| ORAI1 | |||
| CCDC78 | |||
| Autosomal Dominant Myotubular Myopathy | C3661489 | ACTA1 | |
| BIN1 | 17676042 | ||
| DNM2 | 17376685 | ||
| MTM1 | 17376685 | ||
| MYH7 | |||
| RYR1 | 17376685 | ||
| STIM1 | |||
| TPM2 | |||
| TPM3 | |||
| SELENON | |||
| MTMR14 | |||
| ORAI1 | |||
| CCDC78 | |||
| Autosomal dominant centronuclear myopathy | 169189 | RYR1 | |
| DNM2 | |||
| MYF6 | |||
| BIN1 | |||
| MTMR14 |