Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Night blindness, congenital stationary GRM6 disease C0339535 GermlineCausalMutation 0.8 orphanet , disgenet
Night blindness, congenital stationary TRPM1 disease C0339535 AlteredExpression 0.8 orphanet , disgenet
Night blindness, congenital stationary TRPM1 disease C0339535 GeneticVariation 0.8 orphanet , disgenet
Night blindness, congenital stationary GRM6 disease C0339535 AlteredExpression 0.8 orphanet , disgenet
Night blindness, congenital stationary RHO disease C0339535 GermlineCausalMutation 0.8 orphanet , disgenet
Night blindness, congenital stationary TRPM1 disease C0339535 Biomarker 0.8 orphanet , disgenet
Night blindness, congenital stationary TRPM1 disease C0339535 CausalMutation 0.8 orphanet , disgenet
Night blindness, congenital stationary RHO disease C0339535 GeneticVariation 0.8 orphanet , disgenet
Night blindness, congenital stationary RHO disease C0339535 Biomarker 0.8 orphanet , disgenet
Night blindness, congenital stationary GRM6 disease C0339535 Biomarker 0.8 orphanet , disgenet
Night blindness, congenital stationary GRM6 disease C0339535 GeneticVariation 0.8 orphanet , disgenet
Night blindness, congenital stationary GRM6 disease C0339535 CausalMutation 0.8 orphanet , disgenet
Night blindness, congenital stationary TRPM1 disease C0339535 GermlineCausalMutation 0.8 orphanet , disgenet
Night blindness, congenital stationary GNAT1 disease C0339535 GeneticVariation 0.73 orphanet , disgenet
Night blindness, congenital stationary GNAT1 disease C0339535 Biomarker 0.73 orphanet , disgenet
Night blindness, congenital stationary GNAT1 disease C0339535 GermlineCausalMutation 0.73 orphanet , disgenet
Night blindness, congenital stationary GPR179 disease C0339535 Biomarker 0.72 orphanet , disgenet
Night blindness, congenital stationary GPR179 disease C0339535 CausalMutation 0.72 orphanet , disgenet
Night blindness, congenital stationary GPR179 disease C0339535 GermlineCausalMutation 0.72 orphanet , disgenet
Night blindness, congenital stationary PDE6B disease C0339535 GermlineCausalMutation 0.72 orphanet , disgenet
Night blindness, congenital stationary PDE6B disease C0339535 GeneticVariation 0.72 orphanet , disgenet
Night blindness, congenital stationary SLC24A1 disease C0339535 GeneticVariation 0.72 orphanet , disgenet
Night blindness, congenital stationary SLC24A1 disease C0339535 GermlineCausalMutation 0.72 orphanet , disgenet
Night blindness, congenital stationary LRIT3 disease C0339535 GermlineCausalMutation 0.72 orphanet , disgenet
Night blindness, congenital stationary SLC24A1 disease C0339535 Biomarker 0.72 orphanet , disgenet
Night blindness, congenital stationary GPR179 disease C0339535 GeneticVariation 0.72 orphanet , disgenet
Night blindness, congenital stationary LRIT3 disease C0339535 Biomarker 0.72 orphanet , disgenet
Night blindness, congenital stationary PDE6B disease C0339535 Biomarker 0.72 orphanet , disgenet
Night blindness, congenital stationary SAG disease C0339535 GeneticVariation 0.71 orphanet , disgenet
Night blindness, congenital stationary SAG disease C0339535 Biomarker 0.71 orphanet , disgenet
Night blindness, congenital stationary CACNA1F disease C0339535 GeneticVariation 0.7 orphanet , disgenet
Night blindness, congenital stationary NYX disease C0339535 Biomarker 0.7 orphanet , disgenet
Night blindness, congenital stationary CACNA1F disease C0339535 CausalMutation 0.7 orphanet , disgenet
Night blindness, congenital stationary CACNA1F disease C0339535 Biomarker 0.7 orphanet , disgenet
Night blindness, congenital stationary NYX disease C0339535 GeneticVariation 0.7 orphanet , disgenet
Night blindness, congenital stationary CABP4 disease C0339535 GeneticVariation 0.62 orphanet , disgenet
Night blindness, congenital stationary CABP4 disease C0339535 GermlineCausalMutation 0.62 orphanet , disgenet
Night blindness, congenital stationary CABP4 disease C0339535 Biomarker 0.62 orphanet , disgenet
Night blindness, congenital stationary CACNA2D4 disease C0339535 Biomarker 0.51 orphanet , disgenet
Night blindness, congenital stationary CACNA2D4 disease C0339535 GeneticVariation 0.51 orphanet , disgenet
Night blindness, congenital stationary GNB3 disease C0339535 Biomarker 0.51 orphanet , disgenet
Night blindness, congenital stationary GNB3 disease C0339535 GermlineCausalMutation 0.51 orphanet , disgenet
Night blindness, congenital stationary GRK1 disease C0339535 GeneticVariation 0.42 orphanet , disgenet
Night blindness, congenital stationary GRK1 disease C0339535 Biomarker 0.42 orphanet , disgenet
Night blindness, congenital stationary RDH5 disease C0339535 Biomarker 0.31 disgenet
Night blindness, congenital stationary RDH5 disease C0339535 GeneticVariation 0.31 disgenet
Night blindness, congenital stationary RBP4 disease C0339535 Biomarker 0.3 disgenet
Night blindness, congenital stationary ABCA4 disease C0339535 CausalMutation 0.1 disgenet
Night blindness, congenital stationary RPGR disease C0339535 GeneticVariation 0.1 disgenet
Night blindness, congenital stationary TRAPPC9 disease C0339535 Biomarker 0.1 disgenet
Night blindness, congenital stationary FGFR2 disease C0339535 Biomarker 0.1 disgenet
Night blindness, congenital stationary ABCA4 disease C0339535 GeneticVariation 0.1 disgenet
Night blindness, congenital stationary RBP3 disease C0339535 GeneticVariation 0.1 disgenet
Night blindness, congenital stationary USH2A disease C0339535 CausalMutation 0.1 disgenet
Night blindness, congenital stationary ERG disease C0339535 Biomarker 0.02 disgenet
Night blindness, congenital stationary ERG disease C0339535 GeneticVariation 0.02 disgenet
Night blindness, congenital stationary GRK7 disease C0339535 GeneticVariation 0.02 disgenet
Night blindness, congenital stationary RPE65 disease C0339535 GeneticVariation 0.01 disgenet
Night blindness, congenital stationary SOCS2 disease C0339535 Biomarker 0.01 disgenet
Night blindness, congenital stationary USP11 disease C0339535 Biomarker 0.01 disgenet
Night blindness, congenital stationary GUCY2D disease C0339535 GeneticVariation 0.01 disgenet
Night blindness, congenital stationary GNAZ disease C0339535 GeneticVariation 0.01 disgenet
Night blindness, congenital stationary BBS1 disease C0339535 Biomarker 0.01 disgenet
Night blindness, congenital stationary GPR34 disease C0339535 Biomarker 0.01 disgenet
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