De barsy syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ALDH18A1-related De Barsy syndrome | 35664 | ALDH18A1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| De Barsy syndrome | C0268354 | ALDH18A1 | Causal Pathogenic evidence from ClinVar | 11092761, 18388779, 18478038, 21739576, 22170564, 22829427, 24767728, 24816252, 24913064, 26026163, 26297558, 29903433 | ClinVar |
| PYCR1-related De Barsy syndrome | 293633 | PYCR1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |