Bohring-opitz syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Bohring syndrome | C0796232 | ASXL1 | Causal Pathogenic evidence from ClinVar | 21706002, 22419483, 25131622, 26633542, 28107566 | ClinVar |
| KLHL7 | Causal Pathogenic evidence from ClinVar | 29074562 | ClinVar | ||
| Bohring-Opitz syndrome | 97297 | ASXL1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| KLHL7 | Causal Pathogenic evidence from ClinVar | - | ClinVar |