Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Optic Nerve Hypoplasia, Bilateral PAX6 disease C1833797 GeneticVariation 0.7 disgenet
Optic Nerve Hypoplasia, Bilateral PAX6 disease C1833797 CausalMutation 0.7 disgenet
Optic Nerve Hypoplasia, Bilateral PAX6 disease C1833797 Biomarker 0.7 disgenet
Optic Nerve Hypoplasia, Bilateral ELP4 disease C1833797 CausalMutation 0.1 disgenet
Optic Nerve Hypoplasia, Bilateral ATOH7 disease C1833797 GeneticVariation 0.01 disgenet
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