Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Retinal Dystrophy, Early Onset Severe ABCA4 disease C1858080 CausalMutation 0.6 disgenet
Retinal Dystrophy, Early Onset Severe ABCA4 disease C1858080 Biomarker 0.6 disgenet
Retinal Dystrophy, Early Onset Severe RPE65 disease C1858080 Biomarker 0.39 orphanet , disgenet
Retinal Dystrophy, Early Onset Severe RPE65 disease C1858080 GermlineCausalMutation 0.39 orphanet , disgenet
Retinal Dystrophy, Early Onset Severe RPE65 disease C1858080 GeneticVariation 0.39 orphanet , disgenet
Retinal Dystrophy, Early Onset Severe LRAT disease C1858080 GermlineCausalMutation 0.32 orphanet , disgenet
Retinal Dystrophy, Early Onset Severe LRAT disease C1858080 GeneticVariation 0.32 orphanet , disgenet
Retinal Dystrophy, Early Onset Severe LCA5 disease C1858080 GermlineCausalMutation 0.3 orphanet , disgenet
Retinal Dystrophy, Early Onset Severe SPATA7 disease C1858080 GermlineCausalMutation 0.3 orphanet , disgenet
Retinal Dystrophy, Early Onset Severe ELOVL4 disease C1858080 Biomarker 0.2 disgenet
Retinal Dystrophy, Early Onset Severe RDH12 disease C1858080 GeneticVariation 0.02 disgenet
Retinal Dystrophy, Early Onset Severe GUCY2D disease C1858080 GeneticVariation 0.02 disgenet
Retinal Dystrophy, Early Onset Severe CLTA disease C1858080 GeneticVariation 0.01 disgenet
Retinal Dystrophy, Early Onset Severe CRB1 disease C1858080 GeneticVariation 0.01 disgenet
Retinal Dystrophy, Early Onset Severe ADAMTS18 disease C1858080 GeneticVariation 0.01 disgenet
Retinal Dystrophy, Early Onset Severe IFT140 disease C1858080 Biomarker 0.01 disgenet
Retinal Dystrophy, Early Onset Severe CRX disease C1858080 GeneticVariation 0.01 disgenet
Retinal Dystrophy, Early Onset Severe PTPRC disease C1858080 GeneticVariation 0.01 disgenet
click here to return to the previous page