| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Cholestasis, progressive familial intrahepatic 3 | ABCB4 | disease | C1865643 | CausalMutation | 0.77 | orphanet , disgenet |
| Cholestasis, progressive familial intrahepatic 3 | ABCB4 | disease | C1865643 | GermlineCausalMutation | 0.77 | orphanet , disgenet |
| Cholestasis, progressive familial intrahepatic 3 | ABCB4 | disease | C1865643 | Biomarker | 0.77 | orphanet , disgenet |
| Cholestasis, progressive familial intrahepatic 3 | ABCB4 | disease | C1865643 | GeneticVariation | 0.77 | orphanet , disgenet |
| Cholestasis, progressive familial intrahepatic 3 | ATP8B1 | disease | C1865643 | GeneticVariation | 0.01 | disgenet |
| Cholestasis, progressive familial intrahepatic 3 | ABCB11 | disease | C1865643 | Biomarker | 0.01 | disgenet |
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