Proline dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Proline dehydrogenase deficiency | C0268529 | PRODH | Causal Pathogenic evidence from ClinVar | 12217952, 15662599, 17135275, 18197084, 20524212, 23462603, 24816252 | ClinVar |
| DGCR6 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |