Methylmalonate semialdehyde dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | C3279840 | ALDH6A1 | Causal Pathogenic evidence from ClinVar | 10947204, 10971205, 21863277, 23835272, 27604308 | ClinVar |
| BBOF1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |