Neuromuscular diseases
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Neuromuscular Diseases | C0027868 | ACTA1 | 17227580, 12921789, 15226407, 19562689, 25470062, 25525159 |
| DES | 10717012, 12620971, 14724127, 11073539, 22153487, 19587455, 20696008, 23815709, 19716701 | ||
| EMD | 1998333, 10220866, 8595407, 10382909, 10428430, 18646565, 1178008, 7294729, 17355552, 8595406 | ||
| LMNA | 17377071, 28679633, 18714801, 8621584, 25525159, 15678000, 19446900, 24915601, 28798025 | ||
| MYH7 | 19477645, 24664454, 25576864, 22918376, 20733148, 21395566, 12975303, 15322983 | ||
| RYR1 | 24195946, 22473935, 25637381, 20839240, 17483490, 23553787, 19645060, 25476234, 18253926, 21455645, 24627108, 20080402, 21062345, 24951453 | ||
| SGCD | |||
| TPI1 | 8503454 | ||
| TTN | 23975875 | ||
| XK | 8619554, 8004674 | ||
| LDB3 | 17337483, 19377068, 24668811, 28349680, 24647531, 18765652, 15668942, 27618136 | ||
| TRPV4 | |||
| TTN-AS1 | 23975875 |