Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Lundborg Unverricht Syndrome CSTB disease C0751785 Biomarker 1 orphanet , disgenet
Lundborg Unverricht Syndrome CSTB disease C0751785 CausalMutation 1 orphanet , disgenet
Lundborg Unverricht Syndrome CSTB disease C0751785 GermlineCausalMutation 1 orphanet , disgenet
Lundborg Unverricht Syndrome CSTB disease C0751785 GeneticVariation 1 orphanet , disgenet
Lundborg Unverricht Syndrome CSTB disease C0751785 AlteredExpression 1 orphanet , disgenet
Lundborg Unverricht Syndrome SCARB2 disease C0751785 GeneticVariation 0.39 orphanet , disgenet
Lundborg Unverricht Syndrome SCARB2 disease C0751785 GermlineCausalMutation 0.39 orphanet , disgenet
Lundborg Unverricht Syndrome SCARB2 disease C0751785 Biomarker 0.39 orphanet , disgenet
Lundborg Unverricht Syndrome PRICKLE1 disease C0751785 GeneticVariation 0.32 orphanet , disgenet
Lundborg Unverricht Syndrome PRICKLE1 disease C0751785 GermlineCausalMutation 0.32 orphanet , disgenet
Lundborg Unverricht Syndrome KCTD7 disease C0751785 GeneticVariation 0.08 disgenet
Lundborg Unverricht Syndrome KCTD7 disease C0751785 Biomarker 0.08 disgenet
Lundborg Unverricht Syndrome ASAH1 disease C0751785 GeneticVariation 0.06 disgenet
Lundborg Unverricht Syndrome ASAH1 disease C0751785 Biomarker 0.06 disgenet
Lundborg Unverricht Syndrome GOSR2 disease C0751785 GeneticVariation 0.04 orphanet , disgenet
Lundborg Unverricht Syndrome GOSR2 disease C0751785 Biomarker 0.04 orphanet , disgenet
Lundborg Unverricht Syndrome BSCL2 disease C0751785 GeneticVariation 0.02 disgenet
Lundborg Unverricht Syndrome EJM2 disease C0751785 GeneticVariation 0.02 disgenet
Lundborg Unverricht Syndrome PFKL disease C0751785 Biomarker 0.02 disgenet
Lundborg Unverricht Syndrome EPM2A disease C0751785 Biomarker 0.02 disgenet
Lundborg Unverricht Syndrome EPM2A disease C0751785 GeneticVariation 0.02 disgenet
Lundborg Unverricht Syndrome PFKL disease C0751785 GeneticVariation 0.02 disgenet
Lundborg Unverricht Syndrome LSM2 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome TRAPPC10 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome LY6E disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome TMED9 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome TMPRSS3 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome CLN6 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome PWP2 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome KCNC1 disease C0751785 GeneticVariation 0.01 orphanet , disgenet
Lundborg Unverricht Syndrome AIRE disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome LCN2 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome CACNA1A disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome TBC1D24 disease C0751785 GeneticVariation 0.01 orphanet , disgenet
Lundborg Unverricht Syndrome GSTT1 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome BET1 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome ATXN2 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome SERPINI1 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome KCNQ2 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome CARS2 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome NEU1 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome PADI4 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome SACS disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome GSTA1 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome DHX40 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome ARSA disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome STX5 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome HPE1 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome ITGB2 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome TFF1 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome PRNP disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome KCNQ3 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome CHRNA4 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome CST3 disease C0751785 AlteredExpression 0.01 disgenet
Lundborg Unverricht Syndrome BCL2 disease C0751785 AlteredExpression 0.01 disgenet
Lundborg Unverricht Syndrome MECP2 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome SNAP25 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome HRES1 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome U2AF1 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome LMNB2 disease C0751785 GeneticVariation 0.01 orphanet , disgenet
Lundborg Unverricht Syndrome SMN2 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome LMNA disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome COL6A2 disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome SCN1A disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome CDK5R1 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome SEC22B disease C0751785 GeneticVariation 0.01 disgenet
Lundborg Unverricht Syndrome TPPP disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome SMN1 disease C0751785 Biomarker 0.01 disgenet
Lundborg Unverricht Syndrome PRICKLE2 NA C0751785 NA NA orphanet
Lundborg Unverricht Syndrome POLG NA C0751785 NA NA orphanet
Lundborg Unverricht Syndrome CERS1 NA C0751785 NA NA orphanet
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