| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | ALDH6A1 | disease | C3279840 | CausalMutation | 0.7 | orphanet , disgenet |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | ALDH6A1 | disease | C3279840 | Biomarker | 0.7 | orphanet , disgenet |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | ALDH6A1 | disease | C3279840 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | ALDH6A1 | disease | C3279840 | GeneticVariation | 0.7 | orphanet , disgenet |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | BBOF1 | disease | C3279840 | GeneticVariation | 0.1 | disgenet |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | BBOF1 | disease | C3279840 | CausalMutation | 0.1 | disgenet |
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