Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Popliteal Pterygium Syndrome, Lethal Type RIPK4 disease C1849718 GeneticVariation 0.79 orphanet , disgenet
Popliteal Pterygium Syndrome, Lethal Type RIPK4 disease C1849718 CausalMutation 0.79 orphanet , disgenet
Popliteal Pterygium Syndrome, Lethal Type RIPK4 disease C1849718 Biomarker 0.79 orphanet , disgenet
Popliteal Pterygium Syndrome, Lethal Type RIPK4 disease C1849718 GermlineCausalMutation 0.79 orphanet , disgenet
Popliteal Pterygium Syndrome, Lethal Type IRF6 disease C1849718 GeneticVariation 0.03 disgenet
Popliteal Pterygium Syndrome, Lethal Type NGF disease C1849718 AlteredExpression 0.02 disgenet
Popliteal Pterygium Syndrome, Lethal Type NGF disease C1849718 Biomarker 0.02 disgenet
Popliteal Pterygium Syndrome, Lethal Type ALB disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type ADCYAP1R1 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type DIO2 disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type PCNA disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type SPP1 disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type GJB2 disease C1849718 GeneticVariation 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type NPR3 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type DUSP2 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type NCOR2 disease C1849718 PosttranslationalModification 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type WNT11 disease C1849718 PosttranslationalModification 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type PSMG1 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type MMP9 disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type MZB1 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type ADCYAP1 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type EZR disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type CHUK disease C1849718 GeneticVariation 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type KLF6 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type ABCB1 disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type CCL21 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type CRH disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type TAC1 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type DST disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type CRHR2 disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type DIO1 disease C1849718 AlteredExpression 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type GUCY2C disease C1849718 Biomarker 0.01 disgenet
Popliteal Pterygium Syndrome, Lethal Type CCL7 disease C1849718 Biomarker 0.01 disgenet
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