Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Amauroses, Leber CRB1 disease C0339527 GermlineCausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber CRX disease C0339527 GermlineCausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber CRX disease C0339527 CausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber CRX disease C0339527 Biomarker 0.8 orphanet , disgenet
Congenital Amauroses, Leber NMNAT1 disease C0339527 Biomarker 0.8 orphanet , disgenet
Congenital Amauroses, Leber CRX disease C0339527 GeneticVariation 0.8 orphanet , disgenet
Congenital Amauroses, Leber NMNAT1 disease C0339527 GeneticVariation 0.8 orphanet , disgenet
Congenital Amauroses, Leber NMNAT1 disease C0339527 CausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber CRB1 disease C0339527 CausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPGRIP1 disease C0339527 GeneticVariation 0.8 orphanet , disgenet
Congenital Amauroses, Leber CRB1 disease C0339527 GeneticVariation 0.8 orphanet , disgenet
Congenital Amauroses, Leber CRB1 disease C0339527 Biomarker 0.8 orphanet , disgenet
Congenital Amauroses, Leber NMNAT1 disease C0339527 GermlineCausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPE65 disease C0339527 CausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPE65 disease C0339527 Biomarker 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPE65 disease C0339527 GermlineCausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPGRIP1 disease C0339527 GermlineCausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPGRIP1 disease C0339527 Biomarker 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPE65 disease C0339527 GeneticVariation 0.8 orphanet , disgenet
Congenital Amauroses, Leber RPGRIP1 disease C0339527 CausalMutation 0.8 orphanet , disgenet
Congenital Amauroses, Leber CEP290 disease C0339527 CausalMutation 0.7 orphanet , disgenet
Congenital Amauroses, Leber AIPL1 disease C0339527 GeneticVariation 0.7 orphanet , disgenet
Congenital Amauroses, Leber CEP290 disease C0339527 GeneticVariation 0.7 orphanet , disgenet
Congenital Amauroses, Leber CEP290 disease C0339527 AlteredExpression 0.7 orphanet , disgenet
Congenital Amauroses, Leber AIPL1 disease C0339527 Biomarker 0.7 orphanet , disgenet
Congenital Amauroses, Leber AIPL1 disease C0339527 GermlineCausalMutation 0.7 orphanet , disgenet
Congenital Amauroses, Leber CEP290 disease C0339527 GermlineCausalMutation 0.7 orphanet , disgenet
Congenital Amauroses, Leber CEP290 disease C0339527 Biomarker 0.7 orphanet , disgenet
Congenital Amauroses, Leber AIPL1 disease C0339527 CausalMutation 0.7 orphanet , disgenet
Congenital Amauroses, Leber IQCB1 disease C0339527 Biomarker 0.68 orphanet , disgenet
Congenital Amauroses, Leber LCA5 disease C0339527 GermlineCausalMutation 0.68 orphanet , disgenet
Congenital Amauroses, Leber LCA5 disease C0339527 Biomarker 0.68 orphanet , disgenet
Congenital Amauroses, Leber IQCB1 disease C0339527 CausalMutation 0.68 orphanet , disgenet
Congenital Amauroses, Leber IQCB1 disease C0339527 GeneticVariation 0.68 orphanet , disgenet
Congenital Amauroses, Leber IQCB1 disease C0339527 GermlineCausalMutation 0.68 orphanet , disgenet
Congenital Amauroses, Leber LCA5 disease C0339527 CausalMutation 0.68 orphanet , disgenet
Congenital Amauroses, Leber LCA5 disease C0339527 GeneticVariation 0.68 orphanet , disgenet
Congenital Amauroses, Leber SPATA7 disease C0339527 GermlineCausalMutation 0.67 orphanet , disgenet
Congenital Amauroses, Leber SPATA7 disease C0339527 Biomarker 0.67 orphanet , disgenet
Congenital Amauroses, Leber SPATA7 disease C0339527 GeneticVariation 0.67 orphanet , disgenet
Congenital Amauroses, Leber TULP1 disease C0339527 Biomarker 0.66 orphanet , disgenet
Congenital Amauroses, Leber TULP1 disease C0339527 GeneticVariation 0.66 orphanet , disgenet
Congenital Amauroses, Leber TULP1 disease C0339527 GermlineCausalMutation 0.66 orphanet , disgenet
Congenital Amauroses, Leber LRAT disease C0339527 GeneticVariation 0.65 orphanet , disgenet
Congenital Amauroses, Leber LRAT disease C0339527 Biomarker 0.65 orphanet , disgenet
Congenital Amauroses, Leber KCNJ13 disease C0339527 GermlineCausalMutation 0.65 orphanet , disgenet
Congenital Amauroses, Leber KCNJ13 disease C0339527 GeneticVariation 0.65 orphanet , disgenet
Congenital Amauroses, Leber KCNJ13 disease C0339527 CausalMutation 0.65 orphanet , disgenet
Congenital Amauroses, Leber KCNJ13 disease C0339527 Biomarker 0.65 orphanet , disgenet
Congenital Amauroses, Leber LRAT disease C0339527 GermlineCausalMutation 0.65 orphanet , disgenet
Congenital Amauroses, Leber IMPDH1 disease C0339527 Biomarker 0.63 orphanet , disgenet
Congenital Amauroses, Leber IMPDH1 disease C0339527 GeneticVariation 0.63 orphanet , disgenet
Congenital Amauroses, Leber IMPDH1 disease C0339527 GermlineCausalMutation 0.63 orphanet , disgenet
Congenital Amauroses, Leber RD3 disease C0339527 CausalMutation 0.6 orphanet , disgenet
Congenital Amauroses, Leber RD3 disease C0339527 GermlineCausalMutation 0.6 orphanet , disgenet
Congenital Amauroses, Leber RD3 disease C0339527 Biomarker 0.6 orphanet , disgenet
Congenital Amauroses, Leber RDH12 disease C0339527 CausalMutation 0.5 orphanet , disgenet
Congenital Amauroses, Leber GUCY2D disease C0339527 GeneticVariation 0.5 orphanet , disgenet
Congenital Amauroses, Leber GUCY2D disease C0339527 GermlineCausalMutation 0.5 orphanet , disgenet
Congenital Amauroses, Leber RDH12 disease C0339527 GeneticVariation 0.5 orphanet , disgenet
Congenital Amauroses, Leber GUCY2D disease C0339527 Biomarker 0.5 orphanet , disgenet
Congenital Amauroses, Leber GUCY2D disease C0339527 CausalMutation 0.5 orphanet , disgenet
Congenital Amauroses, Leber RDH12 disease C0339527 GermlineCausalMutation 0.5 orphanet , disgenet
Congenital Amauroses, Leber RDH12 disease C0339527 Biomarker 0.5 orphanet , disgenet
Congenital Amauroses, Leber GDF6 disease C0339527 Biomarker 0.31 orphanet , disgenet
Congenital Amauroses, Leber USP45 disease C0339527 GermlineCausalMutation 0.31 orphanet , disgenet
Congenital Amauroses, Leber GDF6 disease C0339527 GermlineCausalMutation 0.31 orphanet , disgenet
Congenital Amauroses, Leber USP45 disease C0339527 GeneticVariation 0.31 orphanet , disgenet
Congenital Amauroses, Leber IFT140 disease C0339527 GermlineCausalMutation 0.3 orphanet , disgenet
Congenital Amauroses, Leber MERTK disease C0339527 Biomarker 0.3 disgenet
Congenital Amauroses, Leber PCYT1A disease C0339527 GermlineCausalMutation 0.3 orphanet , disgenet
Congenital Amauroses, Leber MPP5 disease C0339527 Biomarker 0.21 disgenet
Congenital Amauroses, Leber ABCA4 disease C0339527 CausalMutation 0.12 disgenet
Congenital Amauroses, Leber ABCA4 disease C0339527 GeneticVariation 0.12 disgenet
Congenital Amauroses, Leber AHI1 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber RP2 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber NR2E3 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber RP2 disease C0339527 GeneticVariation 0.1 disgenet
Congenital Amauroses, Leber CNGB3 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber CLUAP1 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber GIGYF2 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber USH2A disease C0339527 GeneticVariation 0.1 disgenet
Congenital Amauroses, Leber CDHR1 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber GRM6 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber ZFYVE26 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber PDE6A disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber RGS9 disease C0339527 CausalMutation 0.1 disgenet
Congenital Amauroses, Leber SLC38A8 disease C0339527 GeneticVariation 0.1 disgenet
Congenital Amauroses, Leber CRB2 disease C0339527 AlteredExpression 0.04 disgenet
Congenital Amauroses, Leber LCA10 disease C0339527 Biomarker 0.04 disgenet
Congenital Amauroses, Leber LCA10 disease C0339527 GeneticVariation 0.04 disgenet
Congenital Amauroses, Leber CRB2 disease C0339527 Biomarker 0.04 disgenet
Congenital Amauroses, Leber CRB2 disease C0339527 GeneticVariation 0.04 disgenet
Congenital Amauroses, Leber PTPRC disease C0339527 GeneticVariation 0.03 disgenet
Congenital Amauroses, Leber OTX2 disease C0339527 GeneticVariation 0.03 disgenet
Congenital Amauroses, Leber OTX2 disease C0339527 AlteredExpression 0.03 disgenet
Congenital Amauroses, Leber CLTA disease C0339527 GeneticVariation 0.03 disgenet
Congenital Amauroses, Leber CNGA3 disease C0339527 GeneticVariation 0.02 disgenet
Congenital Amauroses, Leber CCT2 disease C0339527 GeneticVariation 0.02 disgenet
Congenital Amauroses, Leber CCT2 disease C0339527 Biomarker 0.02 disgenet
Congenital Amauroses, Leber MYO7A disease C0339527 GeneticVariation 0.02 disgenet
Congenital Amauroses, Leber GUCA1A disease C0339527 GeneticVariation 0.02 disgenet
Congenital Amauroses, Leber GUCA1A disease C0339527 Biomarker 0.02 disgenet
Congenital Amauroses, Leber SLC7A14 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber BCL2 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber CNTLN disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber PSMD13 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber RPGR disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber PRPH2 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber ADH7 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber NINL disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber SERPINF1 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber IMPG1 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber PDE6B disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber ENO2 disease C0339527 AlteredExpression 0.01 disgenet
Congenital Amauroses, Leber EGF disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber ND4 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber NUB1 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber MEF2C disease C0339527 AlteredExpression 0.01 disgenet
Congenital Amauroses, Leber TUB disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber ELOVL4 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber PRPF8 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber GUCA1B disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber CILK1 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber TAP2 disease C0339527 AlteredExpression 0.01 disgenet
Congenital Amauroses, Leber GUCY2EP disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber MIR204 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber FST disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber MEF2A disease C0339527 AlteredExpression 0.01 disgenet
Congenital Amauroses, Leber HSD17B6 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber SP4 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber PNPLA6 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber IMPG2 disease C0339527 AlteredExpression 0.01 disgenet
Congenital Amauroses, Leber PRPH disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber LPCAT1 disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber GUCY2F disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber NRL disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber RPGRIP1L disease C0339527 Biomarker 0.01 disgenet
Congenital Amauroses, Leber CABP4 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber SLC19A2 disease C0339527 GeneticVariation 0.01 disgenet
Congenital Amauroses, Leber MT-ND3 NA C0339527 NA NA orphanet
Congenital Amauroses, Leber MT-ND4 NA C0339527 NA NA orphanet
Congenital Amauroses, Leber MT-ND6 NA C0339527 NA NA orphanet
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