Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Cholestasis, progressive familial intrahepatic 4 | TJP2 | disease | C2931067 | Biomarker | 0.7 | orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 4 | TJP2 | disease | C2931067 | GeneticVariation | 0.7 | orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 4 | TJP2 | disease | C2931067 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 4 | TJP2 | disease | C2931067 | CausalMutation | 0.7 | orphanet , disgenet |
Cholestasis, progressive familial intrahepatic 4 | HSD3B7 | disease | C2931067 | Biomarker | 0.3 | disgenet |
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