| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Bile acid synthesis defect, congenital, 2 | AKR1D1 | disease | C1856127 | CausalMutation | 0.7 | orphanet , disgenet |
| Bile acid synthesis defect, congenital, 2 | AKR1D1 | disease | C1856127 | Biomarker | 0.7 | orphanet , disgenet |
| Bile acid synthesis defect, congenital, 2 | AKR1D1 | disease | C1856127 | GeneticVariation | 0.7 | orphanet , disgenet |
| Bile acid synthesis defect, congenital, 2 | AKR1D1 | disease | C1856127 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
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