Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Proteus Syndrome PTEN disease C0085261 GermlineCausalMutation 0.7 orphanet , disgenet
Proteus Syndrome PTEN disease C0085261 Biomarker 0.7 orphanet , disgenet
Proteus Syndrome PTEN disease C0085261 GeneticVariation 0.7 orphanet , disgenet
Proteus Syndrome AKT1 disease C0085261 SomaticCausalMutation 0.69 orphanet , disgenet
Proteus Syndrome AKT1 disease C0085261 Biomarker 0.69 orphanet , disgenet
Proteus Syndrome AKT1 disease C0085261 GeneticVariation 0.69 orphanet , disgenet
Proteus Syndrome PIK3CA disease C0085261 Biomarker 0.02 disgenet
Proteus Syndrome PIK3CA disease C0085261 GeneticVariation 0.02 disgenet
Proteus Syndrome LEFTY2 disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome TSC2 disease C0085261 GeneticVariation 0.01 disgenet
Proteus Syndrome PIK3CG disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome NOTCH3 disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome THBD disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome PITX2 disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome FGFR3 disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome GPC3 disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome PIK3CD disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome PIK3CB disease C0085261 Biomarker 0.01 disgenet
Proteus Syndrome SELE disease C0085261 AlteredExpression 0.01 disgenet
Proteus Syndrome SELP disease C0085261 AlteredExpression 0.01 disgenet
Proteus Syndrome TSC1 disease C0085261 GeneticVariation 0.01 disgenet
Proteus Syndrome MYOG disease C0085261 Biomarker 0.01 disgenet
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