Rubinstein-taybi syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Rubinstein-Taybi Syndrome | C0035934 | CREBBP | 26633545, 12566391, 12930888, 9294190, 16359492, 12070251, 11331617, 26788536, 21932317, 17052327, 18792986, 15706485 |
| EP300 | |||
| RUBINSTEIN-TAYBI SYNDROME 1 | C4551859 | CREBBP | 15706485, 12070251, 20684013, 25388907, 9294190, 11331617, 12566391, 27311832, 18792986, 12114483, 12930888, 24616510 |
| EP300 | |||
| RUBINSTEIN-TAYBI SYNDROME 2 | C3150941 | EP300 | 15706485, 26486927, 27648933, 29706646, 25741868, 25712426, 24352918 |
| EP300-AS1 | 25712426, 29706646, 25741868 | ||
| Rubinstein-Taybi syndrome due to CREBBP mutations | 353277 | CREBBP | |
| Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | 353281 | CREBBP | |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 353284 | EP300 |