Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Alagille Syndrome JAG1 disease C0085280 AlteredExpression 0.9 orphanet , disgenet
Alagille Syndrome JAG1 disease C0085280 GeneticVariation 0.9 orphanet , disgenet
Alagille Syndrome JAG1 disease C0085280 CausalMutation 0.9 orphanet , disgenet
Alagille Syndrome JAG1 disease C0085280 Biomarker 0.9 orphanet , disgenet
Alagille Syndrome NOTCH2 disease C0085280 Biomarker 0.5 orphanet , disgenet
Alagille Syndrome NOTCH2 disease C0085280 CausalMutation 0.5 orphanet , disgenet
Alagille Syndrome NOTCH2 disease C0085280 GeneticVariation 0.5 orphanet , disgenet
Alagille Syndrome SLC6A3 disease C0085280 Biomarker 0.05 disgenet
Alagille Syndrome SLC6A3 disease C0085280 GeneticVariation 0.05 disgenet
Alagille Syndrome NOTCH1 disease C0085280 GeneticVariation 0.03 disgenet
Alagille Syndrome NOTCH1 disease C0085280 Biomarker 0.03 disgenet
Alagille Syndrome NOTCH3 disease C0085280 GeneticVariation 0.02 disgenet
Alagille Syndrome LMNA disease C0085280 GeneticVariation 0.02 disgenet
Alagille Syndrome NOTCH3 disease C0085280 Biomarker 0.02 disgenet
Alagille Syndrome BMP2 disease C0085280 Biomarker 0.02 disgenet
Alagille Syndrome ZNF133 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome HGF disease C0085280 AlteredExpression 0.01 disgenet
Alagille Syndrome DRD2 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome GGTLC1 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome GGTLC5P disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome SERPINA1 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome CACNA1A disease C0085280 AlteredExpression 0.01 disgenet
Alagille Syndrome LOC110806262 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome GGTLC3 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome SNAP25 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome MME disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome SOX9 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome EGF disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome GABBR1 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome ABCB11 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome TBX1 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome CD46 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome APOE disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome MPDZ disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome HEY2 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome WNT1 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome GGT2 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome ROS1 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome LOC102724197 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome OSR1 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome GGTLC4P disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome NAAA disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome GGT1 disease C0085280 GeneticVariation 0.01 disgenet
Alagille Syndrome CTSZ disease C0085280 AlteredExpression 0.01 disgenet
Alagille Syndrome ATP8B1 disease C0085280 Biomarker 0.01 disgenet
Alagille Syndrome SLC6A4 disease C0085280 GeneticVariation 0.01 disgenet
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