Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Amaurosis congenita of Leber, type 9 NMNAT1 disease C1837873 CausalMutation 0.94 disgenet
Amaurosis congenita of Leber, type 9 NMNAT1 disease C1837873 GeneticVariation 0.94 disgenet
Amaurosis congenita of Leber, type 9 NMNAT1 disease C1837873 Biomarker 0.94 disgenet
Amaurosis congenita of Leber, type 9 RPE65 disease C1837873 Biomarker 0.3 disgenet
Amaurosis congenita of Leber, type 9 LRAT disease C1837873 Biomarker 0.3 disgenet
Amaurosis congenita of Leber, type 9 PTPRC disease C1837873 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 9 CLTA disease C1837873 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 9 GUCY2D disease C1837873 Biomarker 0.01 disgenet
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