Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hereditary macular coloboma NMNAT1 disease C1852767 Biomarker 0.4 disgenet
Hereditary macular coloboma FZD5 disease C1852767 GermlineCausalMutation 0.3 orphanet , disgenet
Hereditary macular coloboma SALL2 disease C1852767 GermlineCausalMutation 0.3 orphanet , disgenet
Hereditary macular coloboma ABCB6 disease C1852767 GermlineCausalMutation 0.3 orphanet , disgenet
Hereditary macular coloboma PAX6 disease C1852767 GermlineCausalMutation 0.3 orphanet , disgenet
Hereditary macular coloboma CLDN19 disease C1852767 Biomarker 0.1 disgenet
Hereditary macular coloboma PRPS1 disease C1852767 Biomarker 0.1 disgenet
Hereditary macular coloboma NOD2 disease C1852767 GeneticVariation 0.01 disgenet
Hereditary macular coloboma FZD4 disease C1852767 GeneticVariation 0.01 disgenet
Hereditary macular coloboma LCA5 disease C1852767 GeneticVariation 0.01 disgenet
Hereditary macular coloboma DHX38 disease C1852767 GeneticVariation 0.01 disgenet
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