Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cone Rod Dystrophies AIPL1 disease C4085590 GeneticVariation 0.43 disgenet
Cone Rod Dystrophies AIPL1 disease C4085590 Biomarker 0.43 disgenet
Cone Rod Dystrophies UNC119 disease C4085590 Biomarker 0.31 disgenet
Cone Rod Dystrophies UNC119 disease C4085590 GeneticVariation 0.31 disgenet
Cone Rod Dystrophies NUMB disease C4085590 Biomarker 0.3 disgenet
Cone Rod Dystrophies TLCD3B disease C4085590 Biomarker 0.3 disgenet
Cone Rod Dystrophies WASF3 disease C4085590 Biomarker 0.3 disgenet
Cone Rod Dystrophies RPGR disease C4085590 GeneticVariation 0.2 disgenet
Cone Rod Dystrophies ABCA4 disease C4085590 GeneticVariation 0.2 disgenet
Cone Rod Dystrophies ABCA4 disease C4085590 CausalMutation 0.2 disgenet
Cone Rod Dystrophies CRX disease C4085590 Biomarker 0.2 disgenet
Cone Rod Dystrophies CRX disease C4085590 GeneticVariation 0.2 disgenet
Cone Rod Dystrophies GUCA1A disease C4085590 GeneticVariation 0.2 disgenet
Cone Rod Dystrophies GUCA1A disease C4085590 Biomarker 0.2 disgenet
Cone Rod Dystrophies GUCY2D disease C4085590 Biomarker 0.2 disgenet
Cone Rod Dystrophies ABCA4 disease C4085590 Biomarker 0.2 disgenet
Cone Rod Dystrophies GUCY2D disease C4085590 GeneticVariation 0.2 disgenet
Cone Rod Dystrophies RPGR disease C4085590 Biomarker 0.2 disgenet
Cone Rod Dystrophies PROM1 disease C4085590 CausalMutation 0.18 disgenet
Cone Rod Dystrophies PROM1 disease C4085590 GeneticVariation 0.18 disgenet
Cone Rod Dystrophies PROM1 disease C4085590 Biomarker 0.18 disgenet
Cone Rod Dystrophies RPGRIP1 disease C4085590 GeneticVariation 0.15 disgenet
Cone Rod Dystrophies RPGRIP1 disease C4085590 Biomarker 0.15 disgenet
Cone Rod Dystrophies ATXN7 disease C4085590 GeneticVariation 0.15 disgenet
Cone Rod Dystrophies ATXN7 disease C4085590 Biomarker 0.15 disgenet
Cone Rod Dystrophies RIMS1 disease C4085590 GeneticVariation 0.14 disgenet
Cone Rod Dystrophies RIMS1 disease C4085590 Biomarker 0.14 disgenet
Cone Rod Dystrophies RAB28 disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies ALMS1 disease C4085590 Biomarker 0.13 disgenet
Cone Rod Dystrophies ADAM9 disease C4085590 CausalMutation 0.13 disgenet
Cone Rod Dystrophies CACNA1F disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies RAB28 disease C4085590 Biomarker 0.13 disgenet
Cone Rod Dystrophies ADAM9 disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies RAB28 disease C4085590 CausalMutation 0.13 disgenet
Cone Rod Dystrophies ALMS1 disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies CDHR1 disease C4085590 Biomarker 0.13 disgenet
Cone Rod Dystrophies CNGA3 disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies C8orf37 disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies ADAM9 disease C4085590 Biomarker 0.13 disgenet
Cone Rod Dystrophies CDHR1 disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies CERKL disease C4085590 CausalMutation 0.13 disgenet
Cone Rod Dystrophies CERKL disease C4085590 GeneticVariation 0.13 disgenet
Cone Rod Dystrophies CNGA3 disease C4085590 CausalMutation 0.13 disgenet
Cone Rod Dystrophies CERKL disease C4085590 Biomarker 0.13 disgenet
Cone Rod Dystrophies C8orf37 disease C4085590 Biomarker 0.13 disgenet
Cone Rod Dystrophies CACNA1F disease C4085590 CausalMutation 0.13 disgenet
Cone Rod Dystrophies CACNA1F disease C4085590 Biomarker 0.13 disgenet
Cone Rod Dystrophies RDH12 disease C4085590 Biomarker 0.12 disgenet
Cone Rod Dystrophies PRPH2 disease C4085590 GeneticVariation 0.12 disgenet
Cone Rod Dystrophies RDH12 disease C4085590 GeneticVariation 0.12 disgenet
Cone Rod Dystrophies CNNM4 disease C4085590 Biomarker 0.11 disgenet
Cone Rod Dystrophies CNNM4 disease C4085590 GeneticVariation 0.11 disgenet
Cone Rod Dystrophies TTLL5 disease C4085590 AlteredExpression 0.11 disgenet
Cone Rod Dystrophies TTLL5 disease C4085590 Biomarker 0.11 disgenet
Cone Rod Dystrophies POC1B disease C4085590 Biomarker 0.11 disgenet
Cone Rod Dystrophies POC1B disease C4085590 GeneticVariation 0.11 disgenet
Cone Rod Dystrophies CEP290 disease C4085590 GeneticVariation 0.11 disgenet
Cone Rod Dystrophies USH2A disease C4085590 GeneticVariation 0.1 disgenet
Cone Rod Dystrophies CNGA1 disease C4085590 GeneticVariation 0.1 disgenet
Cone Rod Dystrophies PANK2 disease C4085590 CausalMutation 0.1 disgenet
Cone Rod Dystrophies KCNV2 disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies CNGB3 disease C4085590 CausalMutation 0.1 disgenet
Cone Rod Dystrophies NIPAL1 disease C4085590 GeneticVariation 0.1 disgenet
Cone Rod Dystrophies RHO disease C4085590 CausalMutation 0.1 disgenet
Cone Rod Dystrophies PCYT1A disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies CEP78 disease C4085590 CausalMutation 0.1 disgenet
Cone Rod Dystrophies SLC19A2 disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies CABP4 disease C4085590 GeneticVariation 0.1 disgenet
Cone Rod Dystrophies PDE6C disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies LZTFL1 disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies NR2E3 disease C4085590 CausalMutation 0.1 disgenet
Cone Rod Dystrophies USH2A disease C4085590 CausalMutation 0.1 disgenet
Cone Rod Dystrophies NGLY1 disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies SEMA4A disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies RAX2 disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies FAM161A disease C4085590 CausalMutation 0.1 disgenet
Cone Rod Dystrophies CACNA2D4 disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies PDE6H disease C4085590 Biomarker 0.1 disgenet
Cone Rod Dystrophies CRB1 disease C4085590 GeneticVariation 0.04 disgenet
Cone Rod Dystrophies PITPNM3 disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies EYS disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies PRPH disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies CEP250 disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies TST disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies EYS disease C4085590 Biomarker 0.02 disgenet
Cone Rod Dystrophies SNRPB disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies NMNAT1 disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies GUCA2A disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies SNRPB disease C4085590 Biomarker 0.02 disgenet
Cone Rod Dystrophies GUCA1B disease C4085590 Biomarker 0.02 disgenet
Cone Rod Dystrophies GUCA1B disease C4085590 GeneticVariation 0.02 disgenet
Cone Rod Dystrophies PDC disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies LCA5 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies CACD disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies GNGT2 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies ACTB disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies ELOVL4 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies ABCG2 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies ALPG disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies RANGAP1 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies TULP2 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies GNAT2 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies AHI1 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies PHEX disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies PCARE disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies NRG4 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies SPATA7 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies MAP9 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies CLTA disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies CORD1 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies TULP1 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies ADAMTS18 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies PTPRC disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies ARL3 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies CFAP410 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies CORD8 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies NFE2L2 disease C4085590 Biomarker 0.01 disgenet
Cone Rod Dystrophies MFSD8 disease C4085590 GeneticVariation 0.01 disgenet
Cone Rod Dystrophies GNB3 disease C4085590 GeneticVariation 0.01 disgenet
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