Asphyxiating thoracic dystrophy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Asphyxiating Thoracic Dystrophy 1 | C4551856 | ATD | |
| NEK1 | |||
| DYNC2LI1 | |||
| DYNC2H1 | |||
| BBS10 | |||
| TTC21B | 21258341 | ||
| FAM98C | |||
| TMEM256 | |||
| DYNLT2B | |||
| TMEM256-PLSCR3 | |||
| Saldino-Noonan Syndrome | C0036069 | NEK1 | 22499340, 21211617 |
| IFT140 | |||
| KIAA0586 | |||
| C2CD3 | 26044959, 27094867, 24997988 | ||
| IFT172 | |||
| IFT52 | |||
| DYNC2LI1 | |||
| DYNC2I1 | |||
| WDR35 | |||
| DYNC2H1 | 22499340, 27925158, 19361615, 26938784, 23456818, 29458881, 19442771, 21211617 | ||
| TTC21B | |||
| DYNC2I2 | |||
| CEP120 | |||
| DYNLT2B | |||
| Asphyxiating Thoracic Dystrophy 2 | C1970005 | IFT80 | 19610081, 17468754 |