Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Enhanced S-Cone Syndrome NR2E3 disease C1849394 CausalMutation 1 disgenet
Enhanced S-Cone Syndrome NR2E3 disease C1849394 GeneticVariation 1 disgenet
Enhanced S-Cone Syndrome NR2E3 disease C1849394 Biomarker 1 disgenet
Enhanced S-Cone Syndrome NR2E3 disease C1849394 GermlineCausalMutation 1 disgenet
Enhanced S-Cone Syndrome NRL disease C1849394 GeneticVariation 0.35 disgenet
Enhanced S-Cone Syndrome NRL disease C1849394 AlteredExpression 0.35 disgenet
Enhanced S-Cone Syndrome NRL disease C1849394 Biomarker 0.35 disgenet
Enhanced S-Cone Syndrome NRL disease C1849394 CausalMutation 0.35 disgenet
Enhanced S-Cone Syndrome CNGA3 disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome PRPF8 disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome OPN1LW disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome NYX disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome GRK1 disease C1849394 Biomarker 0.01 disgenet
Enhanced S-Cone Syndrome GRK7 disease C1849394 Biomarker 0.01 disgenet
Enhanced S-Cone Syndrome CRB1 disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome RPE65 disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome TAAR5 disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome FRMD4B disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome CACNA1F disease C1849394 GeneticVariation 0.01 disgenet
Enhanced S-Cone Syndrome GUCA1A disease C1849394 GeneticVariation 0.01 disgenet
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