Succinic semialdehyde dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Succinic semialdehyde dehydrogenase deficiency | 22 | ALDH5A1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| succinic semialdehyde dehydrogenase deficiency | C0268631 | ALDH5A1 | Causal Pathogenic evidence from ClinVar | 11243727, 11901270, 14635103, 16542398, 20018576, 23825041, 25641190, 26964512, 27604308, 28664505, 29031482 | ClinVar |
| ALDH1B1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| GPLD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |