Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pierre Robin Syndrome SOX9 disease C0031900 Biomarker 0.7 orphanet , disgenet
Pierre Robin Syndrome SOX9 disease C0031900 GeneticVariation 0.7 orphanet , disgenet
Pierre Robin Syndrome SOX9 disease C0031900 GermlineCausalMutation 0.7 orphanet , disgenet
Pierre Robin Syndrome EIF4A3 disease C0031900 Biomarker 0.41 disgenet
Pierre Robin Syndrome SOX11 disease C0031900 Biomarker 0.21 disgenet
Pierre Robin Syndrome SOX11 disease C0031900 GeneticVariation 0.21 disgenet
Pierre Robin Syndrome MAPK1 disease C0031900 Biomarker 0.2 disgenet
Pierre Robin Syndrome ACVR2A disease C0031900 Biomarker 0.2 disgenet
Pierre Robin Syndrome TBC1D20 disease C0031900 Biomarker 0.2 disgenet
Pierre Robin Syndrome RAB18 disease C0031900 Biomarker 0.2 disgenet
Pierre Robin Syndrome COL11A1 disease C0031900 GeneticVariation 0.11 disgenet
Pierre Robin Syndrome COL11A1 disease C0031900 Biomarker 0.11 disgenet
Pierre Robin Syndrome COL11A2 disease C0031900 Biomarker 0.11 disgenet
Pierre Robin Syndrome COL2A1 disease C0031900 Biomarker 0.11 disgenet
Pierre Robin Syndrome BMP2 disease C0031900 GeneticVariation 0.11 disgenet
Pierre Robin Syndrome COL2A1 disease C0031900 GeneticVariation 0.11 disgenet
Pierre Robin Syndrome COL11A2 disease C0031900 GeneticVariation 0.11 disgenet
Pierre Robin Syndrome BMP2 disease C0031900 Biomarker 0.11 disgenet
Pierre Robin Syndrome COG1 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome TBX1 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome DGCR8 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome ESS2 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome RBM10 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome DGCR2 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome DGCR6 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome EBF3 disease C0031900 CausalMutation 0.1 disgenet
Pierre Robin Syndrome MYMK disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome AMER1 disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome PTCH1 disease C0031900 CausalMutation 0.1 disgenet
Pierre Robin Syndrome MED12 disease C0031900 GeneticVariation 0.1 disgenet
Pierre Robin Syndrome FLNA disease C0031900 Biomarker 0.1 disgenet
Pierre Robin Syndrome MED13L disease C0031900 GeneticVariation 0.02 disgenet
Pierre Robin Syndrome MAP2K6 disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome DLX6 disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome SLC26A2 disease C0031900 GeneticVariation 0.01 disgenet
Pierre Robin Syndrome FOXC2 disease C0031900 GeneticVariation 0.01 disgenet
Pierre Robin Syndrome CALML3 disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome PHAX disease C0031900 GeneticVariation 0.01 disgenet
Pierre Robin Syndrome CSRP3 disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome EDN1 disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome COTL1 disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome BMPR1B disease C0031900 GeneticVariation 0.01 disgenet
Pierre Robin Syndrome TARP disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome SATB2 disease C0031900 Biomarker 0.01 disgenet
Pierre Robin Syndrome FBN2 disease C0031900 GeneticVariation 0.01 disgenet
Pierre Robin Syndrome MSX1 disease C0031900 GeneticVariation 0.01 disgenet
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