Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Malformation, Vascular PIK3CA phenotype C0158570 GeneticVariation 0.37 disgenet
Malformation, Vascular PIK3CA phenotype C0158570 Biomarker 0.37 disgenet
Malformation, Vascular YES1 phenotype C0158570 Biomarker 0.3 disgenet
Malformation, Vascular ENG phenotype C0158570 GeneticVariation 0.07 disgenet
Malformation, Vascular ENG phenotype C0158570 Biomarker 0.07 disgenet
Malformation, Vascular VEGFA phenotype C0158570 Biomarker 0.05 disgenet
Malformation, Vascular TEK phenotype C0158570 AlteredExpression 0.05 disgenet
Malformation, Vascular TEK phenotype C0158570 GeneticVariation 0.05 disgenet
Malformation, Vascular VEGFA phenotype C0158570 AlteredExpression 0.05 disgenet
Malformation, Vascular ACVRL1 phenotype C0158570 GeneticVariation 0.04 disgenet
Malformation, Vascular ACVRL1 phenotype C0158570 Biomarker 0.04 disgenet
Malformation, Vascular VWF phenotype C0158570 AlteredExpression 0.04 disgenet
Malformation, Vascular VWF phenotype C0158570 Biomarker 0.04 disgenet
Malformation, Vascular KRIT1 phenotype C0158570 GeneticVariation 0.04 disgenet
Malformation, Vascular PTEN phenotype C0158570 GeneticVariation 0.03 disgenet
Malformation, Vascular PTEN phenotype C0158570 Biomarker 0.03 disgenet
Malformation, Vascular CDC42 phenotype C0158570 Biomarker 0.02 disgenet
Malformation, Vascular GDF2 phenotype C0158570 GeneticVariation 0.02 disgenet
Malformation, Vascular SLC2A1 phenotype C0158570 Biomarker 0.02 disgenet
Malformation, Vascular GDF2 phenotype C0158570 Biomarker 0.02 disgenet
Malformation, Vascular PIK3CD phenotype C0158570 Biomarker 0.02 disgenet
Malformation, Vascular RASA1 phenotype C0158570 Biomarker 0.02 disgenet
Malformation, Vascular RASA1 phenotype C0158570 GeneticVariation 0.02 disgenet
Malformation, Vascular PIK3CB phenotype C0158570 Biomarker 0.02 disgenet
Malformation, Vascular PIK3CG phenotype C0158570 Biomarker 0.02 disgenet
Malformation, Vascular ELMO2 phenotype C0158570 GeneticVariation 0.02 disgenet
Malformation, Vascular GNAQ phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular CCL2 phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular TIE1 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular TSC1 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular BRAF phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular PON1 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular AGGF1 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular WT1 phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular IL10 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular ELN phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular EPHB4 phenotype C0158570 GeneticVariation 0.01 disgenet
Malformation, Vascular NES phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular MTOR phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular KLF4 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular VEGFC phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular ANGPT2 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular HIF1A phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular ARL6IP6 phenotype C0158570 GeneticVariation 0.01 disgenet
Malformation, Vascular PDCD10 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular ATM phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular ACTB phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular FLT4 phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular GLO1 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular NRP2 phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular FGF2 phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular GRK2 phenotype C0158570 Biomarker 0.01 disgenet
Malformation, Vascular ADRB1 phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular EPAS1 phenotype C0158570 AlteredExpression 0.01 disgenet
Malformation, Vascular AKT1 phenotype C0158570 GeneticVariation 0.01 disgenet
Malformation, Vascular KDR phenotype C0158570 GeneticVariation 0.01 disgenet
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