Congenital myopathy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Congenital myopathy (disorder) | C0270960 | CACNA1S | 28012042 |
| MYH7 | 27854218 | ||
| MYL1 | 30215711 | ||
| NEB | 12207937 | ||
| RYR1 | 8220423 | ||
| SCN4A | 26700687 | ||
| TNNC2 | 26924529 | ||
| TPM2 | 23413262 | ||
| TPM3 | 10619715 | ||
| TTN | 28716623 | ||
| HACD1 | 23933735 | ||
| SELENON | 11528383 | ||
| KY | 27484770 | ||
| Congenital myopathy, Paradas type | 199329 | DYSF | |
| Myopathy, Congenital, Compton-North | C2675527 | CNTN1 | 19026398, 22242131 |