Coffin-lowry syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Coffin-Lowry syndrome | 192, C0265252 | RPS6KA3 | Causal Pathogenic evidence from ClinVar | 8955270, 9837815, 10094187, 10528858, 11113183, 11180593, 14678837, 14986828, 15214012, 16879200, 17033934, 20832397, 21488662, 24357685, 26398944 | ClinVar |