Freeman-sheldon syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Freeman-Sheldon syndrome | 2053, C0265224 | MYH3 | Causal Pathogenic evidence from ClinVar | 16642020, 18695058, 26578207, 29805041, 30826400 | ClinVar |
| NALCN | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 25683120 | - |