Chondrodystrophic myotonia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Schwartz-Jampel Syndrome, Type 1 | C4551479 | BCL2 | 17954590 |
| COL2A1 | 8486375 | ||
| COL9A1 | 16909383, 11565064 | ||
| COL11A1 | 19638309 | ||
| FLNA | 12612583 | ||
| FLT1 | 17954590 | ||
| GLB1 | 817853 | ||
| HSPG2 | 10545953, 11101850, 11279527 | ||
| KDR | 17954590 | ||
| TRAPPC2 | |||
| VEGFA | 24235232 | ||
| CHST3 | 30200136 | ||
| ADAMTSL2 | 18677313 | ||
| DLL3 | 11146471 | ||
| SOST | |||
| TRPV4 | 18587396 |