Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cholestasis, progressive familial intrahepatic 1 ATP8B1 disease C0268312 Biomarker 0.5 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 ATP8B1 disease C0268312 AlteredExpression 0.5 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB11 disease C0268312 GeneticVariation 0.5 disgenet
Cholestasis, progressive familial intrahepatic 1 ATP8B1 disease C0268312 CausalMutation 0.5 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB11 disease C0268312 Biomarker 0.5 disgenet
Cholestasis, progressive familial intrahepatic 1 ATP8B1 disease C0268312 GeneticVariation 0.5 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB11 disease C0268312 CausalMutation 0.5 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB11 disease C0268312 AlteredExpression 0.5 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB4 disease C0268312 GeneticVariation 0.4 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB4 disease C0268312 AlteredExpression 0.4 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB4 disease C0268312 Biomarker 0.4 disgenet
Cholestasis, progressive familial intrahepatic 1 NR1H4 disease C0268312 GeneticVariation 0.14 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 NR1H4 disease C0268312 CausalMutation 0.14 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 NR1H4 disease C0268312 Biomarker 0.14 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC1 disease C0268312 Biomarker 0.07 disgenet
Cholestasis, progressive familial intrahepatic 1 LOC102724197 disease C0268312 Biomarker 0.07 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC1 disease C0268312 AlteredExpression 0.07 disgenet
Cholestasis, progressive familial intrahepatic 1 LOC102724197 disease C0268312 AlteredExpression 0.07 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC3 disease C0268312 AlteredExpression 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC4P disease C0268312 Biomarker 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC5P disease C0268312 GeneticVariation 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGT2 disease C0268312 Biomarker 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC4P disease C0268312 AlteredExpression 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC5P disease C0268312 Biomarker 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGT2 disease C0268312 AlteredExpression 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC5P disease C0268312 AlteredExpression 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC4P disease C0268312 GeneticVariation 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC3 disease C0268312 Biomarker 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGT2 disease C0268312 GeneticVariation 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGTLC3 disease C0268312 GeneticVariation 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGT1 disease C0268312 Biomarker 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGT1 disease C0268312 GeneticVariation 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 GGT1 disease C0268312 AlteredExpression 0.04 disgenet
Cholestasis, progressive familial intrahepatic 1 MYO5B disease C0268312 GeneticVariation 0.02 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 ABCC4 disease C0268312 AlteredExpression 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCC4 disease C0268312 GeneticVariation 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCC2 disease C0268312 Biomarker 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 TJP2 disease C0268312 GeneticVariation 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 MYO5B disease C0268312 Biomarker 0.02 orphanet , disgenet
Cholestasis, progressive familial intrahepatic 1 HSD3B7 disease C0268312 Biomarker 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 SYCE1L disease C0268312 Biomarker 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 KLHL1 disease C0268312 Biomarker 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 HSD3B7 disease C0268312 GeneticVariation 0.02 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCB1 disease C0268312 GeneticVariation 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 IBSP disease C0268312 GeneticVariation 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 FGF19 disease C0268312 Biomarker 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCG2 disease C0268312 GeneticVariation 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 CFTR disease C0268312 Biomarker 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 SLC10A2 disease C0268312 AlteredExpression 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 SLCO1B1 disease C0268312 Biomarker 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 ABCC3 disease C0268312 AlteredExpression 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 IMMT disease C0268312 GeneticVariation 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 DNAH8 disease C0268312 GeneticVariation 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 SLC25A13 disease C0268312 GeneticVariation 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 APOE disease C0268312 GeneticVariation 0.01 disgenet
Cholestasis, progressive familial intrahepatic 1 CHST3 disease C0268312 GeneticVariation 0.01 disgenet
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