Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Achromatopsia 1 CNGB3 disease C0302129 Biomarker 0.1 orphanet , disgenet
Achromatopsia 1 CNGA3 disease C0302129 GeneticVariation 0.1 orphanet , disgenet
Achromatopsia 1 CNGA3 disease C0302129 Biomarker 0.1 orphanet , disgenet
Achromatopsia 1 CNGB3 disease C0302129 GeneticVariation 0.1 orphanet , disgenet
Achromatopsia 1 GNAT2 disease C0302129 Biomarker 0.09 orphanet , disgenet
Achromatopsia 1 GNAT2 disease C0302129 GeneticVariation 0.09 orphanet , disgenet
Achromatopsia 1 GNAT2 disease C0302129 AlteredExpression 0.09 orphanet , disgenet
Achromatopsia 1 PDE6C disease C0302129 Biomarker 0.06 orphanet , disgenet
Achromatopsia 1 ATF6 disease C0302129 GeneticVariation 0.06 orphanet , disgenet
Achromatopsia 1 PDE6C disease C0302129 GeneticVariation 0.06 orphanet , disgenet
Achromatopsia 1 ATF6 disease C0302129 Biomarker 0.06 orphanet , disgenet
Achromatopsia 1 PDE6H disease C0302129 Biomarker 0.02 orphanet , disgenet
Achromatopsia 1 PDE6H disease C0302129 GeneticVariation 0.02 orphanet , disgenet
Achromatopsia 1 PLXNA2 disease C0302129 Biomarker 0.02 disgenet
Achromatopsia 1 CNTF disease C0302129 Biomarker 0.02 disgenet
Achromatopsia 1 COASY disease C0302129 Biomarker 0.01 disgenet
Achromatopsia 1 STS disease C0302129 Biomarker 0.01 disgenet
Achromatopsia 1 RHO disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 CC2D2A disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 NOC2L disease C0302129 Biomarker 0.01 disgenet
Achromatopsia 1 CACNA1F disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 NYX disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 PAX6 disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 CNNM4 disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 NR2E3 disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 FRMD7 disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 POC1B disease C0302129 GeneticVariation 0.01 disgenet
Achromatopsia 1 RPGR NA C0302129 NA NA orphanet
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