| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Bile acid synthesis defect, congenital, 4 | AMACR | disease | C1858328 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Bile acid synthesis defect, congenital, 4 | AMACR | disease | C1858328 | GeneticVariation | 0.7 | orphanet , disgenet |
| Bile acid synthesis defect, congenital, 4 | AMACR | disease | C1858328 | Biomarker | 0.7 | orphanet , disgenet |
| Bile acid synthesis defect, congenital, 4 | AMACR | disease | C1858328 | CausalMutation | 0.7 | orphanet , disgenet |
| Bile acid synthesis defect, congenital, 4 | C1QTNF3-AMACR | disease | C1858328 | CausalMutation | 0.1 | disgenet |
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