Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Norrie disease NDP disease C0266526 GeneticVariation 1 orphanet , disgenet
Norrie disease NDP disease C0266526 CausalMutation 1 orphanet , disgenet
Norrie disease NDP disease C0266526 GermlineCausalMutation 1 orphanet , disgenet
Norrie disease NDP disease C0266526 Biomarker 1 orphanet , disgenet
Norrie disease FZD4 disease C0266526 CausalMutation 0.35 disgenet
Norrie disease FZD4 disease C0266526 Biomarker 0.35 disgenet
Norrie disease FZD4 disease C0266526 GeneticVariation 0.35 disgenet
Norrie disease MAOA disease C0266526 Biomarker 0.1 disgenet
Norrie disease MAOA disease C0266526 GeneticVariation 0.1 disgenet
Norrie disease MAOB disease C0266526 GeneticVariation 0.1 disgenet
Norrie disease PRSS23 disease C0266526 CausalMutation 0.1 disgenet
Norrie disease TSPAN12 disease C0266526 CausalMutation 0.1 disgenet
Norrie disease MAOB disease C0266526 Biomarker 0.1 disgenet
Norrie disease CTNNB1 disease C0266526 GeneticVariation 0.02 disgenet
Norrie disease APOE disease C0266526 GeneticVariation 0.02 disgenet
Norrie disease OAT disease C0266526 GeneticVariation 0.02 disgenet
Norrie disease APOE disease C0266526 Biomarker 0.02 disgenet
Norrie disease CMAS disease C0266526 Biomarker 0.01 disgenet
Norrie disease RRM2P3 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease AIMP2 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease SOD1 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease IL18 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease MMP9 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease MIR15A disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease PLAU disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease NLRP3 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease CEACAM7 disease C0266526 Biomarker 0.01 disgenet
Norrie disease LRP5 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease KIR2DL1 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease CEACAM5 disease C0266526 Biomarker 0.01 disgenet
Norrie disease MIR652 disease C0266526 Biomarker 0.01 disgenet
Norrie disease IL21 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease SYP disease C0266526 Biomarker 0.01 disgenet
Norrie disease C9 disease C0266526 Biomarker 0.01 disgenet
Norrie disease BCHE disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease REM1 disease C0266526 Biomarker 0.01 disgenet
Norrie disease HMCES disease C0266526 Biomarker 0.01 disgenet
Norrie disease AHR disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease MAPK1 disease C0266526 Biomarker 0.01 disgenet
Norrie disease CEACAM3 disease C0266526 Biomarker 0.01 disgenet
Norrie disease BNIP3 disease C0266526 Biomarker 0.01 disgenet
Norrie disease CD59 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease TP53 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease CRK disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease MMP7 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease IL22 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease CD38 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease IGF1 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease PSG2 disease C0266526 Biomarker 0.01 disgenet
Norrie disease KRAS disease C0266526 Biomarker 0.01 disgenet
Norrie disease POLDIP2 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease CD82 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease EPHB2 disease C0266526 Biomarker 0.01 disgenet
Norrie disease EFHC2 disease C0266526 GeneticVariation 0.01 disgenet
Norrie disease GCG disease C0266526 Biomarker 0.01 disgenet
Norrie disease MIR203A disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease AGT disease C0266526 Biomarker 0.01 disgenet
Norrie disease GRAP2 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease STAT3 disease C0266526 Biomarker 0.01 disgenet
Norrie disease MAPK8 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease MAPK14 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease AHSA1 disease C0266526 AlteredExpression 0.01 disgenet
Norrie disease RNF19A disease C0266526 AlteredExpression 0.01 disgenet
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