Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Sturge Weber Syndrome GNAQ disease C0038505 Biomarker 0.8 orphanet , disgenet
Sturge Weber Syndrome GNAQ disease C0038505 SomaticCausalMutation 0.8 orphanet , disgenet
Sturge Weber Syndrome GNAQ disease C0038505 CausalMutation 0.8 orphanet , disgenet
Sturge Weber Syndrome GNAQ disease C0038505 GeneticVariation 0.8 orphanet , disgenet
Sturge Weber Syndrome RASA1 disease C0038505 Biomarker 0.57 orphanet , disgenet
Sturge Weber Syndrome RASA1 disease C0038505 GermlineCausalMutation 0.57 orphanet , disgenet
Sturge Weber Syndrome RASA1 disease C0038505 GeneticVariation 0.57 orphanet , disgenet
Sturge Weber Syndrome FN1 disease C0038505 AlteredExpression 0.05 disgenet
Sturge Weber Syndrome FN1 disease C0038505 Biomarker 0.05 disgenet
Sturge Weber Syndrome PNPLA6 disease C0038505 GeneticVariation 0.02 disgenet
Sturge Weber Syndrome ALDH18A1 disease C0038505 GeneticVariation 0.02 disgenet
Sturge Weber Syndrome LIFR disease C0038505 GeneticVariation 0.02 disgenet
Sturge Weber Syndrome MEF2C disease C0038505 Biomarker 0.01 disgenet
Sturge Weber Syndrome VEGFA disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome POSTN disease C0038505 Biomarker 0.01 disgenet
Sturge Weber Syndrome PIK3CD disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome KDR disease C0038505 Biomarker 0.01 disgenet
Sturge Weber Syndrome PIK3CA disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome HIF1A disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome PIK3CB disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome TEK disease C0038505 Biomarker 0.01 disgenet
Sturge Weber Syndrome CYP1B1 disease C0038505 GeneticVariation 0.01 disgenet
Sturge Weber Syndrome CYP2B6 disease C0038505 GeneticVariation 0.01 disgenet
Sturge Weber Syndrome TSC1 disease C0038505 GeneticVariation 0.01 disgenet
Sturge Weber Syndrome PIK3CG disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome ACHE disease C0038505 Biomarker 0.01 disgenet
Sturge Weber Syndrome EDN1 disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome TSC2 disease C0038505 GeneticVariation 0.01 disgenet
Sturge Weber Syndrome NF1 disease C0038505 GeneticVariation 0.01 disgenet
Sturge Weber Syndrome PTPRC disease C0038505 AlteredExpression 0.01 disgenet
Sturge Weber Syndrome SNAP29 disease C0038505 GeneticVariation 0.01 disgenet
click here to return to the previous page