Clubfoot
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Familial clubfoot due to 5q31 microdeletion | 293144 | PITX1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Familial clubfoot due to PITX1 point mutation | 293150 | PITX1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Familial clubfoot due to 17q23.1q23.2 microduplication | 238578 | TBX4 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |