Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Dicarboxylicaminoaciduria | SLC1A1 | disease | C1857253 | Biomarker | 0.91 | orphanet , disgenet |
Dicarboxylicaminoaciduria | SLC1A1 | disease | C1857253 | GermlineCausalMutation | 0.91 | orphanet , disgenet |
Dicarboxylicaminoaciduria | SLC1A1 | disease | C1857253 | CausalMutation | 0.91 | orphanet , disgenet |
Dicarboxylicaminoaciduria | SLC1A1 | disease | C1857253 | GeneticVariation | 0.91 | orphanet , disgenet |
Dicarboxylicaminoaciduria | SPATA6L | disease | C1857253 | CausalMutation | 0.1 | disgenet |
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