Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ushers Syndrome MYO7A disease C0271097 GeneticVariation 0.5 orphanet , disgenet
Ushers Syndrome MYO7A disease C0271097 CausalMutation 0.5 orphanet , disgenet
Ushers Syndrome MYO7A disease C0271097 Biomarker 0.5 orphanet , disgenet
Ushers Syndrome PCDH15 disease C0271097 Biomarker 0.48 disgenet
Ushers Syndrome PCDH15 disease C0271097 GeneticVariation 0.48 disgenet
Ushers Syndrome HARS1 disease C0271097 GeneticVariation 0.32 disgenet
Ushers Syndrome HARS1 disease C0271097 Biomarker 0.32 disgenet
Ushers Syndrome PLD4 disease C0271097 Biomarker 0.3 disgenet
Ushers Syndrome USH1C disease C0271097 CausalMutation 0.2 disgenet
Ushers Syndrome ADGRV1 disease C0271097 Biomarker 0.2 orphanet , disgenet
Ushers Syndrome ADGRV1 disease C0271097 CausalMutation 0.2 orphanet , disgenet
Ushers Syndrome USH2A disease C0271097 Biomarker 0.2 orphanet , disgenet
Ushers Syndrome USH2A disease C0271097 CausalMutation 0.2 orphanet , disgenet
Ushers Syndrome USH1C disease C0271097 Biomarker 0.2 disgenet
Ushers Syndrome USH1C disease C0271097 GeneticVariation 0.2 disgenet
Ushers Syndrome ADGRV1 disease C0271097 AlteredExpression 0.2 orphanet , disgenet
Ushers Syndrome ADGRV1 disease C0271097 GeneticVariation 0.2 orphanet , disgenet
Ushers Syndrome USH2A disease C0271097 GeneticVariation 0.2 orphanet , disgenet
Ushers Syndrome CDH23 disease C0271097 AlteredExpression 0.19 disgenet
Ushers Syndrome CDH23 disease C0271097 Biomarker 0.19 disgenet
Ushers Syndrome CDH23 disease C0271097 GeneticVariation 0.19 disgenet
Ushers Syndrome CEP250 disease C0271097 GeneticVariation 0.14 disgenet
Ushers Syndrome CEP250 disease C0271097 CausalMutation 0.14 disgenet
Ushers Syndrome ARSG disease C0271097 GeneticVariation 0.11 disgenet
Ushers Syndrome ARSG disease C0271097 CausalMutation 0.11 disgenet
Ushers Syndrome PROM1 disease C0271097 CausalMutation 0.1 disgenet
Ushers Syndrome GUCA1A disease C0271097 CausalMutation 0.1 disgenet
Ushers Syndrome CDH23-AS1 disease C0271097 GeneticVariation 0.1 disgenet
Ushers Syndrome ZDHHC24 disease C0271097 CausalMutation 0.1 disgenet
Ushers Syndrome BBS1 disease C0271097 CausalMutation 0.1 disgenet
Ushers Syndrome TRNS2 disease C0271097 CausalMutation 0.1 disgenet
Ushers Syndrome CLRN1 disease C0271097 GeneticVariation 0.1 disgenet
Ushers Syndrome CLRN1 disease C0271097 AlteredExpression 0.1 disgenet
Ushers Syndrome CLRN1 disease C0271097 Biomarker 0.1 disgenet
Ushers Syndrome WHRN disease C0271097 GeneticVariation 0.08 orphanet , disgenet
Ushers Syndrome WHRN disease C0271097 Biomarker 0.08 orphanet , disgenet
Ushers Syndrome USH1G disease C0271097 Biomarker 0.08 disgenet
Ushers Syndrome USH1G disease C0271097 GeneticVariation 0.08 disgenet
Ushers Syndrome PDZD7 disease C0271097 Biomarker 0.06 orphanet , disgenet
Ushers Syndrome PDZD7 disease C0271097 GeneticVariation 0.06 orphanet , disgenet
Ushers Syndrome CIB2 disease C0271097 GeneticVariation 0.05 disgenet
Ushers Syndrome CIB2 disease C0271097 Biomarker 0.05 disgenet
Ushers Syndrome GJB2 disease C0271097 Biomarker 0.03 disgenet
Ushers Syndrome GJB2 disease C0271097 GeneticVariation 0.03 disgenet
Ushers Syndrome ESPN disease C0271097 Biomarker 0.02 disgenet
Ushers Syndrome GC disease C0271097 Biomarker 0.02 disgenet
Ushers Syndrome GC disease C0271097 GeneticVariation 0.02 disgenet
Ushers Syndrome HTC2 disease C0271097 Biomarker 0.02 disgenet
Ushers Syndrome ABHD12 disease C0271097 GeneticVariation 0.02 disgenet
Ushers Syndrome CEP78 disease C0271097 Biomarker 0.02 disgenet
Ushers Syndrome CEP78 disease C0271097 GeneticVariation 0.02 disgenet
Ushers Syndrome CIB1 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome ENG disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome MRGPRX4 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome NUCB2 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome MRGPRX1 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome FGF3 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome MEF2C disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome PRPH2 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome PHPT1 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome FADS6 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome SOX3 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome INTS2 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome WFS1 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome OXER1 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome NOTCH2 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome MYO5B disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome PCARE disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome GPRC6A disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome LGR6 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome ASAH1 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome ACTB disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome RCVRN disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome OMP disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome PEX6 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome IMMT disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome GPR166P disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome GPR151 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome NINL disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome MYO15A disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome LPAR3 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome MRGPRX3 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome VEZT disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome OTOF disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome FZD4 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome LCA5 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome ASIC5 disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome USH1E disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome RPGR disease C0271097 GeneticVariation 0.01 disgenet
Ushers Syndrome VN1R17P disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome GBX2 disease C0271097 Biomarker 0.01 disgenet
Ushers Syndrome STATH disease C0271097 GeneticVariation 0.01 disgenet
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