Endocrine-cerebroosteodysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Endocrine-cerebro-osteodysplasia syndrome | 199332 | CILK1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Endocrine-Cerebroosteodysplasia | C2675227 | CILK1 | Causal Pathogenic evidence from ClinVar | 19185282, 24797473, 24853502, 27069622, 27466187, 29539279 | ClinVar |