| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| De Barsy syndrome | ALDH18A1 | disease | C0268354 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| De Barsy syndrome | ALDH18A1 | disease | C0268354 | CausalMutation | 0.7 | orphanet , disgenet |
| De Barsy syndrome | ALDH18A1 | disease | C0268354 | GeneticVariation | 0.7 | orphanet , disgenet |
| De Barsy syndrome | ALDH18A1 | disease | C0268354 | Biomarker | 0.7 | orphanet , disgenet |
| De Barsy syndrome | PYCR1 | disease | C0268354 | GeneticVariation | 0.01 | orphanet , disgenet |
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