Pierre-robin syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Isolated Pierre Robin syndrome | 718 | SOX9 | |
| Pierre Robin Syndrome | C0031900 | BMP2 | |
| COL2A1 | |||
| COL11A1 | |||
| COL11A2 | |||
| FLNA | |||
| PTCH1 | |||
| SOX9 | 30712880, 24934569, 19234473, 8894698 | ||
| TBX1 | |||
| DGCR6 | |||
| ESS2 | |||
| RBM10 | |||
| COG1 | |||
| EIF4A3 | 9449664 | ||
| MED12 | |||
| DGCR2 | |||
| DGCR8 | |||
| AMER1 | |||
| EBF3 | 28017372, 28017370 | ||
| MYMK | |||
| Pierre Robin syndrome with fetal chondrodysplasia | C1848488 | COL11A2 | 15372529, 9506662, 10677296, 21208667, 21204229, 11668593, 14234962, 7859284, 25780254, 15922184, 16637051, 9805126, 19486694, 15141750, 22246659, 15558753, 22796475 |