Cleidocranial dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cleidocranial dysplasia | 1452 | RUNX2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Cleidocranial Dysplasia | C0008928 | RUNX2 | Causal Pathogenic evidence from ClinVar | 9182765, 9207800, 10521292, 10545612, 10689183, 10980549, 11857736, 12081718, 12196916, 12424590, 14688224, 16270353, 17022082, 19744171, 20082269, 20357738, 20648631, 24984680, 26380986, 28505335, 28703881, 28738062 | ClinVar |
| RYR1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 23553484 | - |