Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Silver-Russell IGF2 disease C0175693 PosttranslationalModification 0.7 orphanet , disgenet
Syndrome, Silver-Russell IGF2 disease C0175693 GeneticVariation 0.7 orphanet , disgenet
Syndrome, Silver-Russell IGF2 disease C0175693 Biomarker 0.7 orphanet , disgenet
Syndrome, Silver-Russell IGF2 disease C0175693 CausalMutation 0.7 orphanet , disgenet
Syndrome, Silver-Russell IGF2 disease C0175693 AlteredExpression 0.7 orphanet , disgenet
Syndrome, Silver-Russell H19 disease C0175693 GeneticVariation 0.6 orphanet , disgenet
Syndrome, Silver-Russell H19 disease C0175693 Biomarker 0.6 orphanet , disgenet
Syndrome, Silver-Russell H19 disease C0175693 AlteredExpression 0.6 orphanet , disgenet
Syndrome, Silver-Russell HMGA2 disease C0175693 CausalMutation 0.44 orphanet , disgenet
Syndrome, Silver-Russell HMGA2 disease C0175693 Biomarker 0.44 orphanet , disgenet
Syndrome, Silver-Russell HMGA2 disease C0175693 GeneticVariation 0.44 orphanet , disgenet
Syndrome, Silver-Russell PLAG1 disease C0175693 Biomarker 0.4 orphanet , disgenet
Syndrome, Silver-Russell CDKN1C disease C0175693 Biomarker 0.4 orphanet , disgenet
Syndrome, Silver-Russell CDKN1C disease C0175693 GeneticVariation 0.4 orphanet , disgenet
Syndrome, Silver-Russell PLAG1 disease C0175693 CausalMutation 0.4 orphanet , disgenet
Syndrome, Silver-Russell CDKN1C disease C0175693 AlteredExpression 0.4 orphanet , disgenet
Syndrome, Silver-Russell IGFBP3 disease C0175693 Biomarker 0.34 disgenet
Syndrome, Silver-Russell IGFBP3 disease C0175693 GeneticVariation 0.34 disgenet
Syndrome, Silver-Russell IGFBP1 disease C0175693 Biomarker 0.33 disgenet
Syndrome, Silver-Russell IGFBP1 disease C0175693 GeneticVariation 0.33 disgenet
Syndrome, Silver-Russell CSH1 disease C0175693 Biomarker 0.33 disgenet
Syndrome, Silver-Russell CSH1 disease C0175693 GeneticVariation 0.33 disgenet
Syndrome, Silver-Russell FOXP2 disease C0175693 Biomarker 0.31 disgenet
Syndrome, Silver-Russell GH2 disease C0175693 Biomarker 0.3 disgenet
Syndrome, Silver-Russell CENPJ disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell LZTR1 disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell SOS1 disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell RIT1 disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell PTPN11 disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell KRAS disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell CEP63 disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell RAF1 disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell ATR disease C0175693 Biomarker 0.2 disgenet
Syndrome, Silver-Russell INS-IGF2 disease C0175693 CausalMutation 0.1 disgenet
Syndrome, Silver-Russell UROD disease C0175693 GeneticVariation 0.1 disgenet
Syndrome, Silver-Russell BSCL2 disease C0175693 Biomarker 0.1 disgenet
Syndrome, Silver-Russell RSS disease C0175693 GeneticVariation 0.1 disgenet
Syndrome, Silver-Russell UROD disease C0175693 Biomarker 0.1 disgenet
Syndrome, Silver-Russell RSS disease C0175693 PosttranslationalModification 0.1 disgenet
Syndrome, Silver-Russell H19-ICR disease C0175693 Biomarker 0.1 disgenet
Syndrome, Silver-Russell GRB10 disease C0175693 Biomarker 0.1 disgenet
Syndrome, Silver-Russell GRB10 disease C0175693 GeneticVariation 0.1 disgenet
Syndrome, Silver-Russell H19-ICR disease C0175693 AlteredExpression 0.1 disgenet
Syndrome, Silver-Russell H19-ICR disease C0175693 PosttranslationalModification 0.1 disgenet
Syndrome, Silver-Russell BSCL2 disease C0175693 GeneticVariation 0.1 disgenet
Syndrome, Silver-Russell H19-ICR disease C0175693 GeneticVariation 0.1 disgenet
Syndrome, Silver-Russell SMS disease C0175693 PosttranslationalModification 0.08 disgenet
Syndrome, Silver-Russell SMS disease C0175693 GeneticVariation 0.08 disgenet
Syndrome, Silver-Russell TGM1 disease C0175693 GeneticVariation 0.07 disgenet
Syndrome, Silver-Russell TGM1 disease C0175693 Biomarker 0.07 disgenet
Syndrome, Silver-Russell TGM1 disease C0175693 AlteredExpression 0.07 disgenet
Syndrome, Silver-Russell WDR20 disease C0175693 Biomarker 0.06 disgenet
Syndrome, Silver-Russell MEST disease C0175693 GeneticVariation 0.06 disgenet
Syndrome, Silver-Russell MEST disease C0175693 Biomarker 0.06 disgenet
Syndrome, Silver-Russell WDR20 disease C0175693 GeneticVariation 0.06 disgenet
Syndrome, Silver-Russell GH1 disease C0175693 Biomarker 0.05 disgenet
Syndrome, Silver-Russell IGF1 disease C0175693 Biomarker 0.05 disgenet
Syndrome, Silver-Russell IGF1R disease C0175693 GeneticVariation 0.05 disgenet
Syndrome, Silver-Russell GH1 disease C0175693 GeneticVariation 0.05 disgenet
Syndrome, Silver-Russell IGF1R disease C0175693 Biomarker 0.05 disgenet
Syndrome, Silver-Russell KCNQ1OT1 disease C0175693 PosttranslationalModification 0.04 disgenet
Syndrome, Silver-Russell KCNQ1OT1 disease C0175693 GeneticVariation 0.04 disgenet
Syndrome, Silver-Russell KCNQ1OT1 disease C0175693 Biomarker 0.04 disgenet
Syndrome, Silver-Russell KCNQ1 disease C0175693 Biomarker 0.02 disgenet
Syndrome, Silver-Russell WASHC5 disease C0175693 GeneticVariation 0.02 disgenet
Syndrome, Silver-Russell CTCF disease C0175693 Biomarker 0.02 disgenet
Syndrome, Silver-Russell ZFP57 disease C0175693 GeneticVariation 0.02 disgenet
Syndrome, Silver-Russell CPA4 disease C0175693 AlteredExpression 0.02 disgenet
Syndrome, Silver-Russell PLAGL1 disease C0175693 GeneticVariation 0.02 disgenet
Syndrome, Silver-Russell TSPO disease C0175693 Biomarker 0.02 disgenet
Syndrome, Silver-Russell KCNQ1 disease C0175693 GeneticVariation 0.02 disgenet
Syndrome, Silver-Russell PCNA disease C0175693 GeneticVariation 0.02 disgenet
Syndrome, Silver-Russell CPA4 disease C0175693 Biomarker 0.02 disgenet
Syndrome, Silver-Russell EGFR disease C0175693 Biomarker 0.02 disgenet
Syndrome, Silver-Russell PLAGL1 disease C0175693 Biomarker 0.02 disgenet
Syndrome, Silver-Russell PIK3CD disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell GPI disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell PTCH1 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell HSPB1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell GART disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell PIK3CB disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell SPG38 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell GLDC disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell RCAN1 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell COL1A1 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell GDNF disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell PGR disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell NEUROD1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell GCSH disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell AIFM1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell FOLR1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell KCNE1 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell MAD2L1BP disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell FGFR3 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell PEG10 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell EGF disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell CTCFL disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell DES disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell PDGFRB disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell OSBPL5 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell COPG2 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell GNAS disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell HOXA4 disease C0175693 PosttranslationalModification 0.01 disgenet
Syndrome, Silver-Russell PIK3CG disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell ZACN disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell MEG3 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell SRF disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell AIF1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell RASGRF1 disease C0175693 AlteredExpression 0.01 disgenet
Syndrome, Silver-Russell GHR disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell HIC1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell CHRM3 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell CCDC22 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell DDC disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell COPG2IT1 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell GARS1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell GFAP disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell NFE2L2 disease C0175693 AlteredExpression 0.01 disgenet
Syndrome, Silver-Russell KIF1B disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell BAAT disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell PIK3CA disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell SGCE disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell NSD1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell ANXA1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell MBD3 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell HSPB8 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell NR3C1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell PHLDA2 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell KCNIP1 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell KPNA2 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell LOC105274310 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell OBSL1 disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell IGF2-AS disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell TLR3 disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell SPAST disease C0175693 Biomarker 0.01 disgenet
Syndrome, Silver-Russell HSP90B2P disease C0175693 GeneticVariation 0.01 disgenet
Syndrome, Silver-Russell AMT disease C0175693 GeneticVariation 0.01 disgenet
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