Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Blau syndrome NOD2 disease C1861303 CausalMutation 0.8 orphanet , disgenet
Blau syndrome NOD2 disease C1861303 GeneticVariation 0.8 orphanet , disgenet
Blau syndrome NOD2 disease C1861303 Biomarker 0.8 orphanet , disgenet
Blau syndrome NOD2 disease C1861303 GermlineCausalMutation 0.8 orphanet , disgenet
Blau syndrome NOD2 disease C1861303 AlteredExpression 0.8 orphanet , disgenet
Blau syndrome NOD2 disease C1861303 SusceptibilityMutation 0.8 orphanet , disgenet
Blau syndrome CRP disease C1861303 Biomarker 0.03 disgenet
Blau syndrome CRP disease C1861303 AlteredExpression 0.03 disgenet
Blau syndrome IL1A disease C1861303 GeneticVariation 0.02 disgenet
Blau syndrome S100A12 disease C1861303 Biomarker 0.02 disgenet
Blau syndrome IL1B disease C1861303 GeneticVariation 0.02 disgenet
Blau syndrome S100A12 disease C1861303 AlteredExpression 0.02 disgenet
Blau syndrome TNF disease C1861303 GeneticVariation 0.02 disgenet
Blau syndrome TNF disease C1861303 Biomarker 0.02 disgenet
Blau syndrome IL6 disease C1861303 Biomarker 0.02 disgenet
Blau syndrome CAPS disease C1861303 Biomarker 0.02 disgenet
Blau syndrome IL1B disease C1861303 Biomarker 0.02 disgenet
Blau syndrome IL6 disease C1861303 GeneticVariation 0.02 disgenet
Blau syndrome IL1A disease C1861303 Biomarker 0.02 disgenet
Blau syndrome NDUFS2 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome S100A8 disease C1861303 Biomarker 0.01 disgenet
Blau syndrome EOS disease C1861303 Biomarker 0.01 disgenet
Blau syndrome ATP6AP2 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome NOD1 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome NECTIN1 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome MAPK14 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome AHSA1 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome RNF19A disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome IFNG disease C1861303 Biomarker 0.01 disgenet
Blau syndrome NR1I2 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome CCL11 disease C1861303 AlteredExpression 0.01 disgenet
Blau syndrome POLDIP2 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome IFNGR1 disease C1861303 Biomarker 0.01 disgenet
Blau syndrome GRAP2 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome CCL24 disease C1861303 AlteredExpression 0.01 disgenet
Blau syndrome NDUFS1 disease C1861303 AlteredExpression 0.01 disgenet
Blau syndrome MAPK1 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome S100B disease C1861303 Biomarker 0.01 disgenet
Blau syndrome AIMP2 disease C1861303 GeneticVariation 0.01 disgenet
Blau syndrome NLRP3 disease C1861303 Biomarker 0.01 disgenet
Blau syndrome S100A1 disease C1861303 Biomarker 0.01 disgenet
Blau syndrome NLRP12 disease C1861303 Biomarker 0.01 disgenet
Blau syndrome VEGFA disease C1861303 AlteredExpression 0.01 disgenet
Blau syndrome CRK disease C1861303 GeneticVariation 0.01 disgenet
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