Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Stargardt Disease ABCA4 phenotype C0271093 CausalMutation 1 orphanet , disgenet
Stargardt Disease ABCA4 phenotype C0271093 Biomarker 1 orphanet , disgenet
Stargardt Disease ABCA4 phenotype C0271093 GeneticVariation 1 orphanet , disgenet
Stargardt Disease ABCA4 phenotype C0271093 GermlineCausalMutation 1 orphanet , disgenet
Stargardt Disease ABCA4 phenotype C0271093 AlteredExpression 1 orphanet , disgenet
Stargardt Disease ELOVL4 phenotype C0271093 Biomarker 0.54 orphanet , disgenet
Stargardt Disease ELOVL4 phenotype C0271093 GermlineCausalMutation 0.54 orphanet , disgenet
Stargardt Disease ELOVL4 phenotype C0271093 GeneticVariation 0.54 orphanet , disgenet
Stargardt Disease CNGB3 phenotype C0271093 Biomarker 0.5 orphanet , disgenet
Stargardt Disease CNGB3 phenotype C0271093 GeneticVariation 0.5 orphanet , disgenet
Stargardt Disease PRPH2 phenotype C0271093 GeneticVariation 0.34 orphanet , disgenet
Stargardt Disease PRPH2 phenotype C0271093 Biomarker 0.34 orphanet , disgenet
Stargardt Disease PROM1 phenotype C0271093 GeneticVariation 0.31 orphanet , disgenet
Stargardt Disease PROM1 phenotype C0271093 GermlineCausalMutation 0.31 orphanet , disgenet
Stargardt Disease ITIH2 phenotype C0271093 Biomarker 0.3 disgenet
Stargardt Disease ABCG2 phenotype C0271093 GeneticVariation 0.06 disgenet
Stargardt Disease ABCG2 phenotype C0271093 Biomarker 0.06 disgenet
Stargardt Disease PLXNA2 phenotype C0271093 Biomarker 0.04 disgenet
Stargardt Disease RPGR phenotype C0271093 Biomarker 0.02 disgenet
Stargardt Disease RPGR phenotype C0271093 GeneticVariation 0.02 disgenet
Stargardt Disease CRB1 phenotype C0271093 Biomarker 0.02 disgenet
Stargardt Disease ERG phenotype C0271093 Biomarker 0.02 disgenet
Stargardt Disease ERG phenotype C0271093 GeneticVariation 0.02 disgenet
Stargardt Disease TST phenotype C0271093 GeneticVariation 0.02 disgenet
Stargardt Disease CRB1 phenotype C0271093 GeneticVariation 0.02 disgenet
Stargardt Disease GNAT2 phenotype C0271093 Biomarker 0.02 disgenet
Stargardt Disease CFTR phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease PRPH phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease RPE phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease BEST1 phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease CRX phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease GUCY2D phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease CFH phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease NR2E3 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease DPYS phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease AMD1 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease AKR1A1 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease AAVS1 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease RBP4 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease GRM6 phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease AMD1P2 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease PPT1 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease ZAP70 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease SENP7 phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease CILK1 phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease RDH8 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease FANCF phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease CLN3 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease DPYD phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease PCARE phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease MPO phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease SULT2A1 phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease GNAZ phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease PDE6B phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease NYX phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease USP9X phenotype C0271093 Biomarker 0.01 disgenet
Stargardt Disease PNPLA6 phenotype C0271093 GeneticVariation 0.01 disgenet
Stargardt Disease RHO phenotype C0271093 Biomarker 0.01 disgenet
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