Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Syndrome, Costello HRAS disease C0587248 GeneticVariation 1 orphanet , disgenet
Syndrome, Costello HRAS disease C0587248 CausalMutation 1 orphanet , disgenet
Syndrome, Costello HRAS disease C0587248 Biomarker 1 orphanet , disgenet
Syndrome, Costello KRAS disease C0587248 GeneticVariation 0.6 disgenet
Syndrome, Costello KRAS disease C0587248 Biomarker 0.6 disgenet
Syndrome, Costello MAP2K1 disease C0587248 Biomarker 0.55 disgenet
Syndrome, Costello PTPN11 disease C0587248 Biomarker 0.55 disgenet
Syndrome, Costello PTPN11 disease C0587248 GeneticVariation 0.55 disgenet
Syndrome, Costello MAP2K1 disease C0587248 GeneticVariation 0.55 disgenet
Syndrome, Costello MAP2K2 disease C0587248 GeneticVariation 0.54 disgenet
Syndrome, Costello MAP2K2 disease C0587248 Biomarker 0.54 disgenet
Syndrome, Costello BRAF disease C0587248 GeneticVariation 0.54 disgenet
Syndrome, Costello BRAF disease C0587248 Biomarker 0.54 disgenet
Syndrome, Costello RAF1 disease C0587248 Biomarker 0.32 disgenet
Syndrome, Costello RAF1 disease C0587248 GeneticVariation 0.32 disgenet
Syndrome, Costello RASA1 disease C0587248 Biomarker 0.31 disgenet
Syndrome, Costello SOS1 disease C0587248 Biomarker 0.31 disgenet
Syndrome, Costello SOS1 disease C0587248 GeneticVariation 0.31 disgenet
Syndrome, Costello SHOC2 disease C0587248 Biomarker 0.31 disgenet
Syndrome, Costello SHOC2 disease C0587248 GeneticVariation 0.31 disgenet
Syndrome, Costello PPP1CB disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello RASA2 disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello MRAS disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello RRAS disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello RIT1 disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello NRAS disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello LZTR1 disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello SOS2 disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello A2ML1 disease C0587248 Biomarker 0.3 disgenet
Syndrome, Costello ELN disease C0587248 PosttranslationalModification 0.05 disgenet
Syndrome, Costello ELN disease C0587248 Biomarker 0.05 disgenet
Syndrome, Costello ELN disease C0587248 AlteredExpression 0.05 disgenet
Syndrome, Costello MAP2K7 disease C0587248 AlteredExpression 0.02 disgenet
Syndrome, Costello MAP2K7 disease C0587248 GeneticVariation 0.02 disgenet
Syndrome, Costello RGS6 disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello ZHX2 disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello SGSM3 disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello PLK4 disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello CDK4 disease C0587248 AlteredExpression 0.01 disgenet
Syndrome, Costello F9 disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello MAPK1 disease C0587248 AlteredExpression 0.01 disgenet
Syndrome, Costello AKT1 disease C0587248 PosttranslationalModification 0.01 disgenet
Syndrome, Costello CDKN2A disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello REG1A disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello TP53 disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello PIK3CD disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello STATH disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello GLB1 disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello EGF disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello IGF2 disease C0587248 AlteredExpression 0.01 disgenet
Syndrome, Costello PIK3CB disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello PDGFB disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello CDKN2D disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello VCAN disease C0587248 AlteredExpression 0.01 disgenet
Syndrome, Costello PIK3CG disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello PDGFRB disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello H3P13 disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello PIK3CA disease C0587248 GeneticVariation 0.01 disgenet
Syndrome, Costello IL23A disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello EPHB2 disease C0587248 AlteredExpression 0.01 disgenet
Syndrome, Costello TBCC disease C0587248 Biomarker 0.01 disgenet
Syndrome, Costello SNAI2 disease C0587248 AlteredExpression 0.01 disgenet
Syndrome, Costello CHST11 disease C0587248 Biomarker 0.01 disgenet
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