Coffin-siris syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Coffin-Siris syndrome | C0265338, 1465 | DPF2 | 29429572 |
| SMARCA1 | 26740508, 26539891 | ||
| SMARCA2 | 22426308 | ||
| SMARCA4 | 22426308 | ||
| SMARCB1 | 22426308 | ||
| SMARCC2 | 30580808 | ||
| SMARCE1 | 23906836, 22426308, 23929686 | ||
| SOX4 | 30661722 | ||
| SOX11 | 24886874 | ||
| ARID1A | 22426308 | ||
| ARID1B | 31628733, 25294932, 26340334, 22426308, 29184203, 23906836, 22426309 | ||
| PHF6 | |||
| ARID2 | 28124119 | ||
| SMARCD1 | |||
| COFFIN-SIRIS SYNDROME 7 | C4747954 | DPF2 | 29429572 |
| COFFIN-SIRIS SYNDROME 4 | C3553249 | SMARCA4 | 22426308 |
| COFFIN-SIRIS SYNDROME 5 | C4310788 | SMARCE1 | 23906836, 22426308 |
| COFFIN-SIRIS SYNDROME 6 | C4540499 | ARID2 | 26238514 |