Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epilepsies, Progressive Myoclonic EPM2A disease C0751778 CausalMutation 0.5 disgenet
Epilepsies, Progressive Myoclonic EPM2A disease C0751778 Biomarker 0.5 disgenet
Epilepsies, Progressive Myoclonic EPM2A disease C0751778 GeneticVariation 0.5 disgenet
Epilepsies, Progressive Myoclonic GOSR2 disease C0751778 Biomarker 0.45 orphanet , disgenet
Epilepsies, Progressive Myoclonic GOSR2 disease C0751778 GeneticVariation 0.45 orphanet , disgenet
Epilepsies, Progressive Myoclonic SCARB2 disease C0751778 GeneticVariation 0.4 disgenet
Epilepsies, Progressive Myoclonic SCARB2 disease C0751778 CausalMutation 0.4 disgenet
Epilepsies, Progressive Myoclonic SCARB2 disease C0751778 Biomarker 0.4 disgenet
Epilepsies, Progressive Myoclonic NHLRC1 disease C0751778 GeneticVariation 0.35 disgenet
Epilepsies, Progressive Myoclonic NHLRC1 disease C0751778 Biomarker 0.35 disgenet
Epilepsies, Progressive Myoclonic KCNC1 disease C0751778 Biomarker 0.34 orphanet , disgenet
Epilepsies, Progressive Myoclonic KCNC1 disease C0751778 GeneticVariation 0.34 orphanet , disgenet
Epilepsies, Progressive Myoclonic CLN6 disease C0751778 GeneticVariation 0.32 disgenet
Epilepsies, Progressive Myoclonic CLN6 disease C0751778 Biomarker 0.32 disgenet
Epilepsies, Progressive Myoclonic SERPINI1 disease C0751778 Biomarker 0.32 disgenet
Epilepsies, Progressive Myoclonic SERPINI1 disease C0751778 GeneticVariation 0.32 disgenet
Epilepsies, Progressive Myoclonic LMNB2 disease C0751778 GeneticVariation 0.31 orphanet , disgenet
Epilepsies, Progressive Myoclonic LMNB2 disease C0751778 Biomarker 0.31 orphanet , disgenet
Epilepsies, Progressive Myoclonic TBC1D24 disease C0751778 Biomarker 0.3 orphanet , disgenet
Epilepsies, Progressive Myoclonic CERS1 disease C0751778 Biomarker 0.3 orphanet , disgenet
Epilepsies, Progressive Myoclonic TSC1 disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic AFG3L2 disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic NEU1 disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic PRDM8 disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic SACS disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic CHD2 disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic PRNP disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic ATN1 disease C0751778 Biomarker 0.3 disgenet
Epilepsies, Progressive Myoclonic CSTB disease C0751778 GeneticVariation 0.2 disgenet
Epilepsies, Progressive Myoclonic CSTB disease C0751778 CausalMutation 0.2 disgenet
Epilepsies, Progressive Myoclonic CSTB disease C0751778 AlteredExpression 0.2 disgenet
Epilepsies, Progressive Myoclonic CSTB disease C0751778 Biomarker 0.2 disgenet
Epilepsies, Progressive Myoclonic KCTD7 disease C0751778 Biomarker 0.09 disgenet
Epilepsies, Progressive Myoclonic KCTD7 disease C0751778 GeneticVariation 0.09 disgenet
Epilepsies, Progressive Myoclonic ASAH1 disease C0751778 Biomarker 0.06 disgenet
Epilepsies, Progressive Myoclonic ASAH1 disease C0751778 GeneticVariation 0.06 disgenet
Epilepsies, Progressive Myoclonic CACNA1A disease C0751778 GeneticVariation 0.02 disgenet
Epilepsies, Progressive Myoclonic PRICKLE1 disease C0751778 GeneticVariation 0.02 disgenet
Epilepsies, Progressive Myoclonic TFF1 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic SMN2 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic LY6E disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic GPR37L1 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic BSCL2 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic LMNA disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic SMN1 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic PDE7B disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic SNAP25 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic U2AF1 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic NMBR disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic PRKN disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic SCN1A disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic CBLL2 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic EMP1 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic ARSA disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic CST3 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic COL6A2 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic GSTT1 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic MUL1 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic LSM2 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic CARS2 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic PWP2 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic GPR37 disease C0751778 GeneticVariation 0.01 disgenet
Epilepsies, Progressive Myoclonic ATXN2 disease C0751778 Biomarker 0.01 disgenet
Epilepsies, Progressive Myoclonic PRICKLE2 NA C0751778 NA NA orphanet
Epilepsies, Progressive Myoclonic POLG NA C0751778 NA NA orphanet
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