| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | disease | C0268631 | CausalMutation | 0.8 | orphanet , disgenet |
| succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | disease | C0268631 | GeneticVariation | 0.8 | orphanet , disgenet |
| succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | disease | C0268631 | Biomarker | 0.8 | orphanet , disgenet |
| succinic semialdehyde dehydrogenase deficiency | ALDH1B1 | disease | C0268631 | Biomarker | 0.3 | disgenet |
| succinic semialdehyde dehydrogenase deficiency | GPLD1 | disease | C0268631 | CausalMutation | 0.1 | disgenet |
| succinic semialdehyde dehydrogenase deficiency | SKI | disease | C0268631 | Biomarker | 0.01 | disgenet |
| succinic semialdehyde dehydrogenase deficiency | ADHFE1 | disease | C0268631 | Biomarker | 0.01 | disgenet |
| succinic semialdehyde dehydrogenase deficiency | GABBR1 | disease | C0268631 | Biomarker | 0.01 | disgenet |
| succinic semialdehyde dehydrogenase deficiency | FBN1 | disease | C0268631 | Biomarker | 0.01 | disgenet |
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