Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Port Wine Stain GNAQ disease C0235752 Biomarker 0.66 disgenet
Port Wine Stain GNAQ disease C0235752 GeneticVariation 0.66 disgenet
Port Wine Stain GNAQ disease C0235752 SomaticCausalMutation 0.66 disgenet
Port Wine Stain GNAQ disease C0235752 CausalMutation 0.66 disgenet
Port Wine Stain RASA1 disease C0235752 Biomarker 0.41 disgenet
Port Wine Stain PIK3CA disease C0235752 GeneticVariation 0.12 disgenet
Port Wine Stain PIK3CA disease C0235752 Biomarker 0.12 disgenet
Port Wine Stain CDKN1C disease C0235752 Biomarker 0.11 disgenet
Port Wine Stain CDKN1C disease C0235752 GeneticVariation 0.11 disgenet
Port Wine Stain ROR2 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain TFAP2A disease C0235752 CausalMutation 0.1 disgenet
Port Wine Stain CLIP2 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain H19 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain MIPEP disease C0235752 GeneticVariation 0.1 disgenet
Port Wine Stain KLHL7 disease C0235752 GeneticVariation 0.1 disgenet
Port Wine Stain IGF2 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain TSC2 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain KCNQ1OT1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain BAZ1B disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain LIMK1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain MYOC disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain GTF2IRD1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain FGFR1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain ASXL2 disease C0235752 CausalMutation 0.1 disgenet
Port Wine Stain GTF2I disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain KRAS disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain TBL2 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain DVL1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain H19-ICR disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain TEK disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain RFC2 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain ELN disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain KCNQ1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain ASXL1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain RAF1 disease C0235752 CausalMutation 0.1 disgenet
Port Wine Stain RAD51 disease C0235752 GeneticVariation 0.1 disgenet
Port Wine Stain WNT5A disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain TSC1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain LTBP2 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain DVL3 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain NEK9 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain RHOBTB2 disease C0235752 GeneticVariation 0.1 disgenet
Port Wine Stain CYP1B1 disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain NXN disease C0235752 Biomarker 0.1 disgenet
Port Wine Stain PIK3CB disease C0235752 GeneticVariation 0.02 disgenet
Port Wine Stain PIK3CG disease C0235752 Biomarker 0.02 disgenet
Port Wine Stain PIK3CB disease C0235752 Biomarker 0.02 disgenet
Port Wine Stain PIK3CD disease C0235752 GeneticVariation 0.02 disgenet
Port Wine Stain PIK3CG disease C0235752 GeneticVariation 0.02 disgenet
Port Wine Stain PIK3CD disease C0235752 Biomarker 0.02 disgenet
Port Wine Stain FN1 disease C0235752 AlteredExpression 0.01 disgenet
Port Wine Stain BRAF disease C0235752 GeneticVariation 0.01 disgenet
Port Wine Stain VEGFA disease C0235752 AlteredExpression 0.01 disgenet
Port Wine Stain KDR disease C0235752 AlteredExpression 0.01 disgenet
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