Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Arthrogryposis renal dysfunction cholestasis syndrome VPS33B disease C1859722 CausalMutation 1 orphanet , disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VPS33B disease C1859722 Biomarker 1 orphanet , disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VPS33B disease C1859722 GeneticVariation 1 orphanet , disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VPS33B disease C1859722 GermlineCausalMutation 1 orphanet , disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VIPAS39 disease C1859722 Biomarker 0.9 orphanet , disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VIPAS39 disease C1859722 GeneticVariation 0.9 orphanet , disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VIPAS39 disease C1859722 GermlineCausalMutation 0.9 orphanet , disgenet
Arthrogryposis renal dysfunction cholestasis syndrome LOC102724197 disease C1859722 AlteredExpression 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GGTLC3 disease C1859722 AlteredExpression 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GGT2 disease C1859722 AlteredExpression 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GGTLC4P disease C1859722 AlteredExpression 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome ARC disease C1859722 Biomarker 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome LOC102724197 disease C1859722 GeneticVariation 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GGTLC1 disease C1859722 GeneticVariation 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GGT1 disease C1859722 AlteredExpression 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GGTLC1 disease C1859722 AlteredExpression 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GGTLC5P disease C1859722 AlteredExpression 0.02 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome TMUB1 disease C1859722 GeneticVariation 0.01 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome ALPL disease C1859722 GeneticVariation 0.01 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome AVPR2 disease C1859722 GeneticVariation 0.01 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VPS33A disease C1859722 Biomarker 0.01 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome GFI1B disease C1859722 Biomarker 0.01 disgenet
Arthrogryposis renal dysfunction cholestasis syndrome VPS39 disease C1859722 Biomarker 0.01 disgenet
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