Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Neurocutaneous Syndrome RHOA disease C0265316 Biomarker 0.3 disgenet
Neurocutaneous Syndrome TSC1 disease C0265316 GeneticVariation 0.03 disgenet
Neurocutaneous Syndrome NF1 disease C0265316 GeneticVariation 0.02 disgenet
Neurocutaneous Syndrome GNAQ disease C0265316 GeneticVariation 0.02 orphanet , disgenet
Neurocutaneous Syndrome PIK3CB disease C0265316 Biomarker 0.02 disgenet
Neurocutaneous Syndrome ALDH3A2 disease C0265316 GeneticVariation 0.02 disgenet
Neurocutaneous Syndrome PIK3CD disease C0265316 Biomarker 0.02 disgenet
Neurocutaneous Syndrome TSC2 disease C0265316 GeneticVariation 0.02 disgenet
Neurocutaneous Syndrome GNAQ disease C0265316 Biomarker 0.02 orphanet , disgenet
Neurocutaneous Syndrome PIK3CG disease C0265316 Biomarker 0.02 disgenet
Neurocutaneous Syndrome HRAS disease C0265316 GeneticVariation 0.02 disgenet
Neurocutaneous Syndrome ALDH18A1 disease C0265316 GeneticVariation 0.02 disgenet
Neurocutaneous Syndrome PIK3CA disease C0265316 Biomarker 0.02 disgenet
Neurocutaneous Syndrome PIGL disease C0265316 GeneticVariation 0.01 disgenet
Neurocutaneous Syndrome MEF2C disease C0265316 Biomarker 0.01 disgenet
Neurocutaneous Syndrome POSTN disease C0265316 Biomarker 0.01 disgenet
Neurocutaneous Syndrome CSF2 disease C0265316 AlteredExpression 0.01 disgenet
Neurocutaneous Syndrome WT1 disease C0265316 AlteredExpression 0.01 disgenet
Neurocutaneous Syndrome ABCA4 disease C0265316 GeneticVariation 0.01 disgenet
Neurocutaneous Syndrome VHL disease C0265316 GeneticVariation 0.01 disgenet
Neurocutaneous Syndrome GNA11 disease C0265316 GeneticVariation 0.01 orphanet , disgenet
Neurocutaneous Syndrome AP1S1 disease C0265316 GeneticVariation 0.01 disgenet
Neurocutaneous Syndrome MTOR disease C0265316 Biomarker 0.01 disgenet
Neurocutaneous Syndrome SNAP29 disease C0265316 GeneticVariation 0.01 disgenet
Neurocutaneous Syndrome RASA1 disease C0265316 GeneticVariation 0.01 disgenet
Neurocutaneous Syndrome AKT1 disease C0265316 Biomarker 0.01 disgenet
Neurocutaneous Syndrome KRIT1 disease C0265316 GeneticVariation 0.01 disgenet
Neurocutaneous Syndrome LAMC2 disease C0265316 AlteredExpression 0.01 disgenet
Neurocutaneous Syndrome IKBKG disease C0265316 GeneticVariation 0.01 disgenet
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