Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Amaurosis congenita of Leber, type 1 GUCY2D disease C2931258 AlteredExpression 1 disgenet
Amaurosis congenita of Leber, type 1 GUCY2D disease C2931258 CausalMutation 1 disgenet
Amaurosis congenita of Leber, type 1 GUCY2D disease C2931258 GeneticVariation 1 disgenet
Amaurosis congenita of Leber, type 1 GUCY2D disease C2931258 Biomarker 1 disgenet
Amaurosis congenita of Leber, type 1 RPGRIP1 disease C2931258 GeneticVariation 0.2 disgenet
Amaurosis congenita of Leber, type 1 RPGRIP1 disease C2931258 Biomarker 0.2 disgenet
Amaurosis congenita of Leber, type 1 RPGRIP1 disease C2931258 CausalMutation 0.2 disgenet
Amaurosis congenita of Leber, type 1 CRB1 disease C2931258 GeneticVariation 0.2 disgenet
Amaurosis congenita of Leber, type 1 CRB1 disease C2931258 Biomarker 0.2 disgenet
Amaurosis congenita of Leber, type 1 CRB1 disease C2931258 CausalMutation 0.2 disgenet
Amaurosis congenita of Leber, type 1 TULP1 disease C2931258 CausalMutation 0.14 disgenet
Amaurosis congenita of Leber, type 1 TULP1 disease C2931258 GeneticVariation 0.14 disgenet
Amaurosis congenita of Leber, type 1 LCA5 disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 RDH12 disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 RPE65 disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 CRX disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 AIPL1 disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 PTPRC disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 AIPL1 disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 RPE65 disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 CLTA disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 CLTA disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 CRX disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 LCA5 disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 CEP290 disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 CEP290 disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 NMNAT1 disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 NMNAT1 disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 IQCB1 disease C2931258 GeneticVariation 0.1 disgenet
Amaurosis congenita of Leber, type 1 PTPRC disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 PROM1 disease C2931258 CausalMutation 0.1 disgenet
Amaurosis congenita of Leber, type 1 RDH12 disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 IQCB1 disease C2931258 Biomarker 0.1 disgenet
Amaurosis congenita of Leber, type 1 SPATA7 disease C2931258 Biomarker 0.06 disgenet
Amaurosis congenita of Leber, type 1 SPATA7 disease C2931258 GeneticVariation 0.06 disgenet
Amaurosis congenita of Leber, type 1 LRAT disease C2931258 GeneticVariation 0.05 disgenet
Amaurosis congenita of Leber, type 1 LRAT disease C2931258 Biomarker 0.05 disgenet
Amaurosis congenita of Leber, type 1 KCNJ13 disease C2931258 GeneticVariation 0.04 disgenet
Amaurosis congenita of Leber, type 1 MERTK disease C2931258 GeneticVariation 0.02 disgenet
Amaurosis congenita of Leber, type 1 IMPDH1 disease C2931258 GeneticVariation 0.02 disgenet
Amaurosis congenita of Leber, type 1 RD3 disease C2931258 GeneticVariation 0.02 disgenet
Amaurosis congenita of Leber, type 1 RPE disease C2931258 AlteredExpression 0.02 disgenet
Amaurosis congenita of Leber, type 1 RD3 disease C2931258 Biomarker 0.02 disgenet
Amaurosis congenita of Leber, type 1 CRB2 disease C2931258 GeneticVariation 0.02 disgenet
Amaurosis congenita of Leber, type 1 RPE disease C2931258 GeneticVariation 0.02 disgenet
Amaurosis congenita of Leber, type 1 CRB2 disease C2931258 Biomarker 0.02 disgenet
Amaurosis congenita of Leber, type 1 RHO disease C2931258 Biomarker 0.02 disgenet
Amaurosis congenita of Leber, type 1 CCT2 disease C2931258 GeneticVariation 0.02 disgenet
Amaurosis congenita of Leber, type 1 CXCL8 disease C2931258 Biomarker 0.02 disgenet
Amaurosis congenita of Leber, type 1 SORD disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 IL6 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 MS4A1 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 BEST1 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 IFT140 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 MYO7A disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 PRPH2 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 OTX2 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 NUB1 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 HTC2 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 SLC25A22 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 NYX disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 ERBB2 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 TUB disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 GNAT2 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 DIO3 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 MYCN disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 CABP4 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 POC1B disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 CTNNA1 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 GUCA1A disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 GRB10 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 SH2D3A disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 NR2E3 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 PCYT1B disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 CACNA1F disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 MITF disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 CNGA3 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 RHEB disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 CYP4V2 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 BCL6 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 CYP3A4 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 TNF disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 RBP3 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 TUBB4B disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 GFAP disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 CNTLN disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 AHI1 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 IRF1 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 NRL disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 FUT4 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 LOH19CR1 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 RPS19 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 SQSTM1 disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 LCA10 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 KRT20 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 GUCA2A disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 GRK1 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 TNFRSF8 disease C2931258 Biomarker 0.01 disgenet
Amaurosis congenita of Leber, type 1 SLC16A12 disease C2931258 PosttranslationalModification 0.01 disgenet
Amaurosis congenita of Leber, type 1 PDE6B disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 MEF2C disease C2931258 AlteredExpression 0.01 disgenet
Amaurosis congenita of Leber, type 1 MPP5 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 SLC7A14 disease C2931258 GeneticVariation 0.01 disgenet
Amaurosis congenita of Leber, type 1 OLFM4 disease C2931258 GeneticVariation 0.01 disgenet
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