Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Familial Exudative Vitreoretinopathy LRP5 disease C0339539 GeneticVariation 0.5 orphanet , disgenet
Familial Exudative Vitreoretinopathy LRP5 disease C0339539 CausalMutation 0.5 orphanet , disgenet
Familial Exudative Vitreoretinopathy LRP5 disease C0339539 Biomarker 0.5 orphanet , disgenet
Familial Exudative Vitreoretinopathy LRP5 disease C0339539 AlteredExpression 0.5 orphanet , disgenet
Familial Exudative Vitreoretinopathy RCBTB1 disease C0339539 Biomarker 0.41 disgenet
Familial Exudative Vitreoretinopathy RCBTB1 disease C0339539 GeneticVariation 0.41 disgenet
Familial Exudative Vitreoretinopathy ZNF408 disease C0339539 Biomarker 0.36 orphanet , disgenet
Familial Exudative Vitreoretinopathy ZNF408 disease C0339539 GeneticVariation 0.36 orphanet , disgenet
Familial Exudative Vitreoretinopathy ZNF408 disease C0339539 GermlineCausalMutation 0.36 orphanet , disgenet
Familial Exudative Vitreoretinopathy CTNNB1 disease C0339539 GermlineCausalMutation 0.32 orphanet , disgenet
Familial Exudative Vitreoretinopathy CTNNB1 disease C0339539 GeneticVariation 0.32 orphanet , disgenet
Familial Exudative Vitreoretinopathy CTNNB1 disease C0339539 Biomarker 0.32 orphanet , disgenet
Familial Exudative Vitreoretinopathy ABCA4 disease C0339539 GeneticVariation 0.31 disgenet
Familial Exudative Vitreoretinopathy ABCA4 disease C0339539 Biomarker 0.31 disgenet
Familial Exudative Vitreoretinopathy TSPAN12 disease C0339539 GeneticVariation 0.2 orphanet , disgenet
Familial Exudative Vitreoretinopathy TSPAN12 disease C0339539 Biomarker 0.2 orphanet , disgenet
Familial Exudative Vitreoretinopathy FZD4 disease C0339539 GeneticVariation 0.2 orphanet , disgenet
Familial Exudative Vitreoretinopathy FZD4 disease C0339539 Biomarker 0.2 orphanet , disgenet
Familial Exudative Vitreoretinopathy FZD4 disease C0339539 CausalMutation 0.2 orphanet , disgenet
Familial Exudative Vitreoretinopathy FZD4 disease C0339539 AlteredExpression 0.2 orphanet , disgenet
Familial Exudative Vitreoretinopathy PRSS23 disease C0339539 CausalMutation 0.1 disgenet
Familial Exudative Vitreoretinopathy NDP disease C0339539 Biomarker 0.1 orphanet , disgenet
Familial Exudative Vitreoretinopathy NDP disease C0339539 GeneticVariation 0.1 orphanet , disgenet
Familial Exudative Vitreoretinopathy KIF11 disease C0339539 Biomarker 0.06 disgenet
Familial Exudative Vitreoretinopathy KIF11 disease C0339539 GeneticVariation 0.06 disgenet
Familial Exudative Vitreoretinopathy FZD1 disease C0339539 GeneticVariation 0.03 disgenet
Familial Exudative Vitreoretinopathy FZD5 disease C0339539 Biomarker 0.03 disgenet
Familial Exudative Vitreoretinopathy FZD1 disease C0339539 Biomarker 0.03 disgenet
Familial Exudative Vitreoretinopathy FZD5 disease C0339539 GeneticVariation 0.03 disgenet
Familial Exudative Vitreoretinopathy JAG1 disease C0339539 Biomarker 0.01 disgenet
Familial Exudative Vitreoretinopathy OPN1LW disease C0339539 GeneticVariation 0.01 disgenet
Familial Exudative Vitreoretinopathy PLXNA2 disease C0339539 Biomarker 0.01 disgenet
Familial Exudative Vitreoretinopathy STK39 disease C0339539 GeneticVariation 0.01 disgenet
Familial Exudative Vitreoretinopathy VEGFA disease C0339539 Biomarker 0.01 disgenet
Familial Exudative Vitreoretinopathy MAOA disease C0339539 GeneticVariation 0.01 disgenet
Familial Exudative Vitreoretinopathy ILK disease C0339539 Biomarker 0.01 disgenet
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