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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