Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Vision, Low RPGRIP1 disease C0042798 Biomarker 0.13 disgenet
Vision, Low RPGRIP1 disease C0042798 GeneticVariation 0.13 disgenet
Vision, Low PAX6 disease C0042798 GeneticVariation 0.11 disgenet
Vision, Low SRD5A3 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low PMM2 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low PCGF2 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low SYN3 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low PEX6 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low TPP1 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low NR2E3 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low ABCA4 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low ASXL1 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low CNTNAP1 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low PEX11B disease C0042798 CausalMutation 0.1 disgenet
Vision, Low SMARCB1 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low TRAPPC3 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low ALMS1 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low HEXA disease C0042798 CausalMutation 0.1 disgenet
Vision, Low BBS12 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low TENM3 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low ROGDI disease C0042798 CausalMutation 0.1 disgenet
Vision, Low ALG13 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low ELP4 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low COL4A1 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low VPS13B disease C0042798 CausalMutation 0.1 disgenet
Vision, Low PMM2 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low BBS9 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low MPDU1 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low ADGRG1 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low KCNQ1 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low ABCA4 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low MAGEL2 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low KIDINS220 disease C0042798 CausalMutation 0.1 disgenet
Vision, Low TMEM67 disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low H3-3A disease C0042798 GeneticVariation 0.1 disgenet
Vision, Low RPE65 disease C0042798 Biomarker 0.07 disgenet
Vision, Low RPE65 disease C0042798 GeneticVariation 0.07 disgenet
Vision, Low OPA1 disease C0042798 Biomarker 0.03 disgenet
Vision, Low OPA1 disease C0042798 GeneticVariation 0.03 disgenet
Vision, Low ATXN7 disease C0042798 Biomarker 0.03 disgenet
Vision, Low AIPL1 disease C0042798 Biomarker 0.03 disgenet
Vision, Low AIPL1 disease C0042798 GeneticVariation 0.03 disgenet
Vision, Low CLN6 disease C0042798 GeneticVariation 0.02 disgenet
Vision, Low CLN6 disease C0042798 Biomarker 0.02 disgenet
Vision, Low NCL disease C0042798 GeneticVariation 0.02 disgenet
Vision, Low VEGFA disease C0042798 GeneticVariation 0.02 disgenet
Vision, Low MYO7A disease C0042798 GeneticVariation 0.02 disgenet
Vision, Low SLC1A1 disease C0042798 Biomarker 0.02 disgenet
Vision, Low MYO7A disease C0042798 Biomarker 0.02 disgenet
Vision, Low TIMP3 disease C0042798 GeneticVariation 0.02 disgenet
Vision, Low PRPH2 disease C0042798 GeneticVariation 0.02 disgenet
Vision, Low OAT disease C0042798 Biomarker 0.02 disgenet
Vision, Low VEGFA disease C0042798 Biomarker 0.02 disgenet
Vision, Low CDKL5 disease C0042798 Biomarker 0.02 disgenet
Vision, Low NCL disease C0042798 Biomarker 0.02 disgenet
Vision, Low CNNM4 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PPP5C disease C0042798 Biomarker 0.01 disgenet
Vision, Low PHLDA2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CHRNA7 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TGFBI disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low ADA disease C0042798 Biomarker 0.01 disgenet
Vision, Low MERTK disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PBK disease C0042798 Biomarker 0.01 disgenet
Vision, Low ATXN1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low SLC4A11 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PRRT2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low IMPG2 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low WFS1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CRYAB disease C0042798 Biomarker 0.01 disgenet
Vision, Low MPEG1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low GUCY2D disease C0042798 Biomarker 0.01 disgenet
Vision, Low MFSD8 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low EFNA5 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low CEP250 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PLXNA2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low MECP2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low EPHA2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low LAMC2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low HTRA1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low CLDN19 disease C0042798 Biomarker 0.01 disgenet
Vision, Low MIR25 disease C0042798 Biomarker 0.01 disgenet
Vision, Low KARS1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low SLC52A2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low MSMB disease C0042798 Biomarker 0.01 disgenet
Vision, Low PRPH disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low UVRAG disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low ASNS disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TMPRSS13 disease C0042798 Biomarker 0.01 disgenet
Vision, Low SPHK1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CKAP4 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low LRP2 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low ATXN2 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TST disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low EMC1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low SYMPK disease C0042798 Biomarker 0.01 disgenet
Vision, Low NDP disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low F2R disease C0042798 Biomarker 0.01 disgenet
Vision, Low CHM disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low FOXG1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low SMUG1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CDH23 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low ATXN3 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low USH2A disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TP63 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low RPS27 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low MST1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low ARL13B disease C0042798 Biomarker 0.01 disgenet
Vision, Low TFPI disease C0042798 Biomarker 0.01 disgenet
Vision, Low CLCN7 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low ABCB10P1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CEP78 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low CLN5 disease C0042798 Biomarker 0.01 disgenet
Vision, Low PPT1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low COL18A1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low AARS2 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low MARK2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low PRKCA disease C0042798 Biomarker 0.01 disgenet
Vision, Low TRPM1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low CEP290 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low MYP2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low MARK3 disease C0042798 Biomarker 0.01 disgenet
Vision, Low NR1I2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low SMC1A disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low CHD7 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low RAF1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low RSC1A1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low PWAR1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CFH disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low MPP5 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CRH disease C0042798 Biomarker 0.01 disgenet
Vision, Low LAMB2 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PRKCB disease C0042798 Biomarker 0.01 disgenet
Vision, Low LMLN disease C0042798 Biomarker 0.01 disgenet
Vision, Low ACTB disease C0042798 Biomarker 0.01 disgenet
Vision, Low CYP2U1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low OSTM1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low EYS disease C0042798 Biomarker 0.01 disgenet
Vision, Low MYOC disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TCIRG1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low MEIS1 disease C0042798 AlteredExpression 0.01 disgenet
Vision, Low CLRN1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PHOX2A disease C0042798 Biomarker 0.01 disgenet
Vision, Low CRX disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low MTFMT disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low KTCN8 disease C0042798 Biomarker 0.01 disgenet
Vision, Low LY6E disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low RS1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PRPF6 disease C0042798 Biomarker 0.01 disgenet
Vision, Low IDUA disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low AQP4 disease C0042798 Biomarker 0.01 disgenet
Vision, Low RBP3 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CSF2 disease C0042798 Biomarker 0.01 disgenet
Vision, Low IMPG1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low ERG disease C0042798 Biomarker 0.01 disgenet
Vision, Low LRRK2 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PITX3 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PDGFRB disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TAC1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low KRAS disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TBP disease C0042798 Biomarker 0.01 disgenet
Vision, Low CD40LG disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low SERPINF1 disease C0042798 Biomarker 0.01 disgenet
Vision, Low CCDC102B disease C0042798 Biomarker 0.01 disgenet
Vision, Low SLC38A8 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low PROM1 disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TXNIP disease C0042798 GeneticVariation 0.01 disgenet
Vision, Low TTK disease C0042798 GeneticVariation 0.01 disgenet
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