Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Snyder Robinson syndrome SMS disease C0796160 GeneticVariation 0.8 disgenet
Snyder Robinson syndrome SMS disease C0796160 AlteredExpression 0.8 disgenet
Snyder Robinson syndrome SMS disease C0796160 Biomarker 0.8 disgenet
Snyder Robinson syndrome SMS disease C0796160 CausalMutation 0.8 disgenet
Snyder Robinson syndrome IGF2 disease C0796160 Biomarker 0.31 disgenet
Snyder Robinson syndrome PLAG1 disease C0796160 Biomarker 0.3 disgenet
Snyder Robinson syndrome HMGA2 disease C0796160 Biomarker 0.3 disgenet
Snyder Robinson syndrome H19 disease C0796160 Biomarker 0.03 disgenet
Snyder Robinson syndrome H19 disease C0796160 AlteredExpression 0.03 disgenet
Snyder Robinson syndrome TSPO disease C0796160 Biomarker 0.02 disgenet
Snyder Robinson syndrome CDKN1C disease C0796160 Biomarker 0.02 disgenet
Snyder Robinson syndrome PTCH1 disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome CHRM3 disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome PIK3CB disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome SRM disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome IGFBP1 disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome FOLR1 disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome PIK3CG disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome SRF disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome IGFBP3 disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome PIK3CA disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome GFAP disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome IGF1R disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome GPI disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome ANXA1 disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome NFE2L2 disease C0796160 AlteredExpression 0.01 disgenet
Snyder Robinson syndrome AIF1 disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome PDGFRB disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome GDNF disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome RASGRF1 disease C0796160 AlteredExpression 0.01 disgenet
Snyder Robinson syndrome NR3C1 disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome PIK3CD disease C0796160 GeneticVariation 0.01 disgenet
Snyder Robinson syndrome TLR3 disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome NEUROD1 disease C0796160 Biomarker 0.01 disgenet
Snyder Robinson syndrome KCNQ1OT1 disease C0796160 PosttranslationalModification 0.01 disgenet
Snyder Robinson syndrome KCNIP1 disease C0796160 Biomarker 0.01 disgenet
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