Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Noonan Syndrome SOS1 disease C0028326 GeneticVariation 1 orphanet , disgenet
Noonan Syndrome PTPN11 disease C0028326 AlteredExpression 1 orphanet , disgenet
Noonan Syndrome SOS1 disease C0028326 GermlineCausalMutation 1 orphanet , disgenet
Noonan Syndrome SOS1 disease C0028326 CausalMutation 1 orphanet , disgenet
Noonan Syndrome SOS1 disease C0028326 AlteredExpression 1 orphanet , disgenet
Noonan Syndrome RAF1 disease C0028326 Biomarker 1 orphanet , disgenet
Noonan Syndrome SOS1 disease C0028326 Biomarker 1 orphanet , disgenet
Noonan Syndrome PTPN11 disease C0028326 GermlineCausalMutation 1 orphanet , disgenet
Noonan Syndrome KRAS disease C0028326 Biomarker 1 orphanet , disgenet
Noonan Syndrome RAF1 disease C0028326 GermlineCausalMutation 1 orphanet , disgenet
Noonan Syndrome PTPN11 disease C0028326 CausalMutation 1 orphanet , disgenet
Noonan Syndrome KRAS disease C0028326 CausalMutation 1 orphanet , disgenet
Noonan Syndrome PTPN11 disease C0028326 GeneticVariation 1 orphanet , disgenet
Noonan Syndrome RAF1 disease C0028326 CausalMutation 1 orphanet , disgenet
Noonan Syndrome RAF1 disease C0028326 GeneticVariation 1 orphanet , disgenet
Noonan Syndrome KRAS disease C0028326 GeneticVariation 1 orphanet , disgenet
Noonan Syndrome PTPN11 disease C0028326 Biomarker 1 orphanet , disgenet
Noonan Syndrome KRAS disease C0028326 GermlineCausalMutation 1 orphanet , disgenet
Noonan Syndrome RAF1 disease C0028326 AlteredExpression 1 orphanet , disgenet
Noonan Syndrome RIT1 disease C0028326 GermlineCausalMutation 0.9 orphanet , disgenet
Noonan Syndrome RIT1 disease C0028326 GeneticVariation 0.9 orphanet , disgenet
Noonan Syndrome RIT1 disease C0028326 Biomarker 0.9 orphanet , disgenet
Noonan Syndrome LZTR1 disease C0028326 Biomarker 0.9 orphanet , disgenet
Noonan Syndrome RIT1 disease C0028326 CausalMutation 0.9 orphanet , disgenet
Noonan Syndrome LZTR1 disease C0028326 GermlineCausalMutation 0.9 orphanet , disgenet
Noonan Syndrome LZTR1 disease C0028326 GeneticVariation 0.9 orphanet , disgenet
Noonan Syndrome SHOC2 disease C0028326 Biomarker 0.8 orphanet , disgenet
Noonan Syndrome SHOC2 disease C0028326 GeneticVariation 0.8 orphanet , disgenet
Noonan Syndrome SHOC2 disease C0028326 AlteredExpression 0.8 orphanet , disgenet
Noonan Syndrome SHOC2 disease C0028326 CausalMutation 0.8 orphanet , disgenet
Noonan Syndrome NRAS disease C0028326 Biomarker 0.78 orphanet , disgenet
Noonan Syndrome NRAS disease C0028326 GermlineCausalMutation 0.78 orphanet , disgenet
Noonan Syndrome NRAS disease C0028326 CausalMutation 0.78 orphanet , disgenet
Noonan Syndrome NRAS disease C0028326 GeneticVariation 0.78 orphanet , disgenet
Noonan Syndrome BRAF disease C0028326 CausalMutation 0.77 disgenet
Noonan Syndrome BRAF disease C0028326 GermlineCausalMutation 0.77 disgenet
Noonan Syndrome BRAF disease C0028326 GeneticVariation 0.77 disgenet
Noonan Syndrome BRAF disease C0028326 Biomarker 0.77 disgenet
Noonan Syndrome MAP2K1 disease C0028326 Biomarker 0.68 disgenet
Noonan Syndrome MAP2K1 disease C0028326 CausalMutation 0.68 disgenet
Noonan Syndrome MAP2K1 disease C0028326 GeneticVariation 0.68 disgenet
Noonan Syndrome MAP2K2 disease C0028326 Biomarker 0.64 disgenet
Noonan Syndrome HRAS disease C0028326 GeneticVariation 0.64 disgenet
Noonan Syndrome HRAS disease C0028326 Biomarker 0.64 disgenet
Noonan Syndrome MAP2K2 disease C0028326 GeneticVariation 0.64 disgenet
Noonan Syndrome HRAS disease C0028326 CausalMutation 0.64 disgenet
Noonan Syndrome SOS2 disease C0028326 GermlineCausalMutation 0.62 orphanet , disgenet
Noonan Syndrome RRAS2 disease C0028326 GermlineCausalMutation 0.62 orphanet , disgenet
Noonan Syndrome SOS2 disease C0028326 GeneticVariation 0.62 orphanet , disgenet
Noonan Syndrome RRAS2 disease C0028326 GeneticVariation 0.62 orphanet , disgenet
Noonan Syndrome RRAS2 disease C0028326 Biomarker 0.62 orphanet , disgenet
Noonan Syndrome SOS2 disease C0028326 Biomarker 0.62 orphanet , disgenet
Noonan Syndrome A2ML1 disease C0028326 Biomarker 0.6 disgenet
Noonan Syndrome A2ML1 disease C0028326 GermlineCausalMutation 0.6 disgenet
Noonan Syndrome MRAS disease C0028326 GeneticVariation 0.56 orphanet , disgenet
Noonan Syndrome MRAS disease C0028326 AlteredExpression 0.56 orphanet , disgenet
Noonan Syndrome MRAS disease C0028326 GermlineCausalMutation 0.56 orphanet , disgenet
Noonan Syndrome MRAS disease C0028326 Biomarker 0.56 orphanet , disgenet
Noonan Syndrome RRAS disease C0028326 GeneticVariation 0.51 orphanet , disgenet
Noonan Syndrome RRAS disease C0028326 Biomarker 0.51 orphanet , disgenet
Noonan Syndrome RASA2 disease C0028326 GeneticVariation 0.51 orphanet , disgenet
Noonan Syndrome RASA2 disease C0028326 GermlineCausalMutation 0.51 orphanet , disgenet
Noonan Syndrome RASA2 disease C0028326 Biomarker 0.51 orphanet , disgenet
Noonan Syndrome CBL disease C0028326 GeneticVariation 0.46 orphanet , disgenet
Noonan Syndrome CBL disease C0028326 Biomarker 0.46 orphanet , disgenet
Noonan Syndrome CBL disease C0028326 CausalMutation 0.46 orphanet , disgenet
Noonan Syndrome NF1 disease C0028326 GeneticVariation 0.35 disgenet
Noonan Syndrome NF1 disease C0028326 Biomarker 0.35 disgenet
Noonan Syndrome PPP1CB disease C0028326 Biomarker 0.35 orphanet , disgenet
Noonan Syndrome PPP1CB disease C0028326 GeneticVariation 0.35 orphanet , disgenet
Noonan Syndrome EPHA2 disease C0028326 Biomarker 0.31 disgenet
Noonan Syndrome KAT6B disease C0028326 GeneticVariation 0.31 disgenet
Noonan Syndrome EPHA2 disease C0028326 GeneticVariation 0.31 disgenet
Noonan Syndrome KAT6B disease C0028326 GermlineCausalMutation 0.31 disgenet
Noonan Syndrome RASA1 disease C0028326 Biomarker 0.3 disgenet
Noonan Syndrome APAF1 disease C0028326 Biomarker 0.2 disgenet
Noonan Syndrome ATR disease C0028326 Biomarker 0.2 disgenet
Noonan Syndrome CEP63 disease C0028326 Biomarker 0.2 disgenet
Noonan Syndrome CENPJ disease C0028326 Biomarker 0.2 disgenet
Noonan Syndrome GH1 disease C0028326 Biomarker 0.1 disgenet
Noonan Syndrome GH1 disease C0028326 GeneticVariation 0.1 disgenet
Noonan Syndrome EPHB2 disease C0028326 Biomarker 0.1 disgenet
Noonan Syndrome MAPK1 disease C0028326 Biomarker 0.1 disgenet
Noonan Syndrome EPHB2 disease C0028326 AlteredExpression 0.1 disgenet
Noonan Syndrome MAPK1 disease C0028326 GeneticVariation 0.1 disgenet
Noonan Syndrome EPHB2 disease C0028326 GeneticVariation 0.1 disgenet
Noonan Syndrome MAPK1 disease C0028326 AlteredExpression 0.1 disgenet
Noonan Syndrome PTEN disease C0028326 GeneticVariation 0.05 disgenet
Noonan Syndrome PTEN disease C0028326 Biomarker 0.05 disgenet
Noonan Syndrome ACP1 disease C0028326 GeneticVariation 0.05 disgenet
Noonan Syndrome ZHX2 disease C0028326 AlteredExpression 0.05 disgenet
Noonan Syndrome ZHX2 disease C0028326 GeneticVariation 0.05 disgenet
Noonan Syndrome ACP1 disease C0028326 Biomarker 0.05 disgenet
Noonan Syndrome REG1A disease C0028326 Biomarker 0.04 disgenet
Noonan Syndrome PTPRU disease C0028326 GeneticVariation 0.04 disgenet
Noonan Syndrome PTPRU disease C0028326 Biomarker 0.04 disgenet
Noonan Syndrome SLC25A3 disease C0028326 GeneticVariation 0.04 disgenet
Noonan Syndrome SLC25A3 disease C0028326 Biomarker 0.04 disgenet
Noonan Syndrome REG1A disease C0028326 GeneticVariation 0.04 disgenet
Noonan Syndrome IGF1 disease C0028326 AlteredExpression 0.03 disgenet
Noonan Syndrome IGF1 disease C0028326 GeneticVariation 0.03 disgenet
Noonan Syndrome IGF1 disease C0028326 Biomarker 0.03 disgenet
Noonan Syndrome STAT5B disease C0028326 GeneticVariation 0.02 disgenet
Noonan Syndrome CBLL2 disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome CBLL2 disease C0028326 AlteredExpression 0.02 disgenet
Noonan Syndrome MVD disease C0028326 GeneticVariation 0.02 disgenet
Noonan Syndrome STAT5B disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome CDC42 disease C0028326 GeneticVariation 0.02 disgenet
Noonan Syndrome MAP2K7 disease C0028326 GeneticVariation 0.02 disgenet
Noonan Syndrome MAPK3 disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome MAP2K7 disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome MUL1 disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome XYLT2 disease C0028326 GeneticVariation 0.02 disgenet
Noonan Syndrome PRKN disease C0028326 AlteredExpression 0.02 disgenet
Noonan Syndrome MUL1 disease C0028326 AlteredExpression 0.02 disgenet
Noonan Syndrome PRKN disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome MAPK3 disease C0028326 GeneticVariation 0.02 disgenet
Noonan Syndrome CDC42 disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome MVD disease C0028326 Biomarker 0.02 disgenet
Noonan Syndrome GRIN2B disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome SHOX disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome DSG4 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome PDGFRB disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome RNASE3 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome CCL3 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome NCK2 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome AMH disease C0028326 AlteredExpression 0.01 disgenet
Noonan Syndrome ARHGEF2 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome MAPK7 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome RPL6 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome SPRED1 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome DTX1 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome MIR195 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome CDAN1 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome SLC2A4RG disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome MTG1 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome GRIN1 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome ACVR1 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome FHL1 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome PTPRT disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome CDC25C disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome ELK1 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome STAT5A disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome MIR223 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome USF1 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome PTPN1 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome MPZL1 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome NOTCH1 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome RPS6KA3 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome MED18 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome RASGRF1 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome STAT3 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome SGSM3 disease C0028326 Biomarker 0.01 disgenet
Noonan Syndrome ZNF462 disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome ARAF disease C0028326 GeneticVariation 0.01 disgenet
Noonan Syndrome MYC disease C0028326 AlteredExpression 0.01 disgenet
Noonan Syndrome IGFBP3 disease C0028326 AlteredExpression 0.01 disgenet
Noonan Syndrome SPRED2 NA C0028326 NA NA orphanet
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