Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Macular dystrophy, concentric annular CNGB3 phenotype C1828210 Biomarker 0.1 disgenet
Macular dystrophy, concentric annular ABCA4 phenotype C1828210 GeneticVariation 0.1 disgenet
Macular dystrophy, concentric annular ABCA4 phenotype C1828210 Biomarker 0.1 disgenet
Macular dystrophy, concentric annular CRX phenotype C1828210 CausalMutation 0.1 disgenet
Macular dystrophy, concentric annular RIMS1 phenotype C1828210 Biomarker 0.1 disgenet
Macular dystrophy, concentric annular VPS13B phenotype C1828210 Biomarker 0.1 disgenet
Macular dystrophy, concentric annular RAX2 phenotype C1828210 Biomarker 0.1 disgenet
Macular dystrophy, concentric annular IMPG1 NA C1828210 NA NA orphanet
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