3mc syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 3MC syndrome | 293843 | COLEC10 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| COLEC11 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| MASP1 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Carnevale syndrome | C0796279 | COLEC11 | Causal Pathogenic evidence from ClinVar | 2569826, 21258343, 25912189, 28301481 | ClinVar |
| MASP1 | Causal Pathogenic evidence from ClinVar | 21258343 | ClinVar | ||
| Oculopalatoskeletal syndrome | C0796059 | COLEC11 | Causal Pathogenic evidence from ClinVar | 21258343 | ClinVar |
| MASP1 | Causal Pathogenic evidence from ClinVar | 8921412, 17937425, 21035106, 21258343 | ClinVar |