Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cardiofaciocutaneous syndrome MAP2K1 disease C1275081 GeneticVariation 1 orphanet , disgenet
Cardiofaciocutaneous syndrome BRAF disease C1275081 CausalMutation 1 orphanet , disgenet
Cardiofaciocutaneous syndrome MAP2K1 disease C1275081 CausalMutation 1 orphanet , disgenet
Cardiofaciocutaneous syndrome BRAF disease C1275081 GermlineCausalMutation 1 orphanet , disgenet
Cardiofaciocutaneous syndrome BRAF disease C1275081 Biomarker 1 orphanet , disgenet
Cardiofaciocutaneous syndrome MAP2K1 disease C1275081 Biomarker 1 orphanet , disgenet
Cardiofaciocutaneous syndrome MAP2K1 disease C1275081 GermlineCausalMutation 1 orphanet , disgenet
Cardiofaciocutaneous syndrome BRAF disease C1275081 AlteredExpression 1 orphanet , disgenet
Cardiofaciocutaneous syndrome BRAF disease C1275081 GeneticVariation 1 orphanet , disgenet
Cardiofaciocutaneous syndrome MAP2K2 disease C1275081 GermlineCausalMutation 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome KRAS disease C1275081 CausalMutation 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome KRAS disease C1275081 Biomarker 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome KRAS disease C1275081 GeneticVariation 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome MAP2K2 disease C1275081 CausalMutation 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome MAP2K2 disease C1275081 GeneticVariation 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome KRAS disease C1275081 GermlineCausalMutation 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome MAP2K2 disease C1275081 Biomarker 0.8 orphanet , disgenet
Cardiofaciocutaneous syndrome HRAS disease C1275081 GeneticVariation 0.57 disgenet
Cardiofaciocutaneous syndrome HRAS disease C1275081 Biomarker 0.57 disgenet
Cardiofaciocutaneous syndrome PTPN11 disease C1275081 GeneticVariation 0.57 disgenet
Cardiofaciocutaneous syndrome PTPN11 disease C1275081 Biomarker 0.57 disgenet
Cardiofaciocutaneous syndrome NRAS disease C1275081 Biomarker 0.5 disgenet
Cardiofaciocutaneous syndrome RAF1 disease C1275081 GeneticVariation 0.33 disgenet
Cardiofaciocutaneous syndrome RAF1 disease C1275081 Biomarker 0.33 disgenet
Cardiofaciocutaneous syndrome SOS1 disease C1275081 GeneticVariation 0.33 disgenet
Cardiofaciocutaneous syndrome SOS1 disease C1275081 Biomarker 0.33 disgenet
Cardiofaciocutaneous syndrome SHOC2 disease C1275081 GeneticVariation 0.31 disgenet
Cardiofaciocutaneous syndrome SHOC2 disease C1275081 Biomarker 0.31 disgenet
Cardiofaciocutaneous syndrome LZTR1 disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome PPP1CB disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome RASA1 disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome RASA2 disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome RRAS disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome RIT1 disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome SOS2 disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome MRAS disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome A2ML1 disease C1275081 Biomarker 0.3 disgenet
Cardiofaciocutaneous syndrome MAPK1 disease C1275081 GeneticVariation 0.04 disgenet
Cardiofaciocutaneous syndrome EPHB2 disease C1275081 GeneticVariation 0.04 disgenet
Cardiofaciocutaneous syndrome EPHB2 disease C1275081 Biomarker 0.04 disgenet
Cardiofaciocutaneous syndrome MAPK1 disease C1275081 Biomarker 0.04 disgenet
Cardiofaciocutaneous syndrome SGSM3 disease C1275081 GeneticVariation 0.03 disgenet
Cardiofaciocutaneous syndrome MAP2K7 disease C1275081 GeneticVariation 0.03 disgenet
Cardiofaciocutaneous syndrome SGSM3 disease C1275081 Biomarker 0.03 disgenet
Cardiofaciocutaneous syndrome MAP2K7 disease C1275081 Biomarker 0.03 disgenet
Cardiofaciocutaneous syndrome ZHX2 disease C1275081 GeneticVariation 0.02 disgenet
Cardiofaciocutaneous syndrome ZHX2 disease C1275081 Biomarker 0.02 disgenet
Cardiofaciocutaneous syndrome NPPC disease C1275081 Biomarker 0.01 disgenet
Cardiofaciocutaneous syndrome CFC1 disease C1275081 Biomarker 0.01 orphanet , disgenet
Cardiofaciocutaneous syndrome YWHAZ disease C1275081 Biomarker 0.01 disgenet
Cardiofaciocutaneous syndrome KANSL1 disease C1275081 AlteredExpression 0.01 disgenet
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