Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epilepsies, Juvenile Myoclonic EFHC1 disease C0270853 GeneticVariation 1 orphanet , disgenet
Epilepsies, Juvenile Myoclonic EFHC1 disease C0270853 SusceptibilityMutation 1 orphanet , disgenet
Epilepsies, Juvenile Myoclonic EFHC1 disease C0270853 CausalMutation 1 orphanet , disgenet
Epilepsies, Juvenile Myoclonic EFHC1 disease C0270853 Biomarker 1 orphanet , disgenet
Epilepsies, Juvenile Myoclonic GABRA1 disease C0270853 Biomarker 0.67 orphanet , disgenet
Epilepsies, Juvenile Myoclonic GABRA1 disease C0270853 GeneticVariation 0.67 orphanet , disgenet
Epilepsies, Juvenile Myoclonic GABRA1 disease C0270853 GermlineCausalMutation 0.67 orphanet , disgenet
Epilepsies, Juvenile Myoclonic JRK disease C0270853 GeneticVariation 0.51 orphanet , disgenet
Epilepsies, Juvenile Myoclonic JRK disease C0270853 Biomarker 0.51 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CACNB4 disease C0270853 GeneticVariation 0.51 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CACNB4 disease C0270853 GermlineCausalMutation 0.51 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CACNB4 disease C0270853 Biomarker 0.51 orphanet , disgenet
Epilepsies, Juvenile Myoclonic KCNQ3 disease C0270853 GeneticVariation 0.33 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CLCN2 disease C0270853 GeneticVariation 0.33 orphanet , disgenet
Epilepsies, Juvenile Myoclonic KCNQ3 disease C0270853 SusceptibilityMutation 0.33 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CLCN2 disease C0270853 SusceptibilityMutation 0.33 orphanet , disgenet
Epilepsies, Juvenile Myoclonic KCNQ3 disease C0270853 Biomarker 0.33 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CILK1 disease C0270853 GeneticVariation 0.32 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CILK1 disease C0270853 GermlineCausalMutation 0.32 orphanet , disgenet
Epilepsies, Juvenile Myoclonic GABRD disease C0270853 SusceptibilityMutation 0.32 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CILK1 disease C0270853 Biomarker 0.32 orphanet , disgenet
Epilepsies, Juvenile Myoclonic GABRD disease C0270853 GeneticVariation 0.32 orphanet , disgenet
Epilepsies, Juvenile Myoclonic CTF1 disease C0270853 GeneticVariation 0.1 disgenet
Epilepsies, Juvenile Myoclonic BRD2 disease C0270853 PosttranslationalModification 0.1 disgenet
Epilepsies, Juvenile Myoclonic BRD2 disease C0270853 GeneticVariation 0.1 disgenet
Epilepsies, Juvenile Myoclonic BRD2 disease C0270853 Biomarker 0.1 disgenet
Epilepsies, Juvenile Myoclonic CHRNA4 disease C0270853 Biomarker 0.05 disgenet
Epilepsies, Juvenile Myoclonic CHRNA4 disease C0270853 AlteredExpression 0.05 disgenet
Epilepsies, Juvenile Myoclonic CHRNA4 disease C0270853 GeneticVariation 0.05 disgenet
Epilepsies, Juvenile Myoclonic EJM2 disease C0270853 GeneticVariation 0.05 disgenet
Epilepsies, Juvenile Myoclonic GABRG2 disease C0270853 GeneticVariation 0.05 disgenet
Epilepsies, Juvenile Myoclonic GRM4 disease C0270853 Biomarker 0.04 disgenet
Epilepsies, Juvenile Myoclonic GRM4 disease C0270853 GeneticVariation 0.04 disgenet
Epilepsies, Juvenile Myoclonic GJD2 disease C0270853 GeneticVariation 0.04 disgenet
Epilepsies, Juvenile Myoclonic CSTB disease C0270853 Biomarker 0.03 disgenet
Epilepsies, Juvenile Myoclonic CSTB disease C0270853 GeneticVariation 0.03 disgenet
Epilepsies, Juvenile Myoclonic SCN1A disease C0270853 Biomarker 0.03 disgenet
Epilepsies, Juvenile Myoclonic SCN1A disease C0270853 GeneticVariation 0.03 disgenet
Epilepsies, Juvenile Myoclonic KCNQ2 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic ME2 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic KCND3 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic IGHE disease C0270853 Biomarker 0.02 disgenet
Epilepsies, Juvenile Myoclonic EFHC2 disease C0270853 Biomarker 0.02 disgenet
Epilepsies, Juvenile Myoclonic GABBR1 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic GJA8 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic SEC14L2 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic GJA8 disease C0270853 Biomarker 0.02 disgenet
Epilepsies, Juvenile Myoclonic EFHC2 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic TAP1 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic GABRB3 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic TRPM2 disease C0270853 Biomarker 0.02 disgenet
Epilepsies, Juvenile Myoclonic TRPM2 disease C0270853 AlteredExpression 0.02 disgenet
Epilepsies, Juvenile Myoclonic CHRNA7 disease C0270853 GeneticVariation 0.02 disgenet
Epilepsies, Juvenile Myoclonic CHRFAM7A disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic SYBU disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic STIN2-VNTR disease C0270853 AlteredExpression 0.01 disgenet
Epilepsies, Juvenile Myoclonic LRRC1 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic TOP3B disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic HLA-DPB1 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic F2 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic RBM45 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic ATN1 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic KCNJ6 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic PADI4 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic ALDH5A1 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic RMDN1 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic GABRA5 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic HLA-DQA1 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic CLOCK disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic CASR disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic NPL disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic EXT1 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic RMDN3 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic ABCB1 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic DNMT1 disease C0270853 AlteredExpression 0.01 disgenet
Epilepsies, Juvenile Myoclonic DHX40 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic SLC6A4 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic SLC12A6 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic HCN2 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic CFP disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic HLA-DRB1 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic SLC12A2 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic LGSN disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic MMEL1 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic REM1 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic HLA-F disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic RMDN2 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic MED19 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic PER2 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic SLC12A5 disease C0270853 PosttranslationalModification 0.01 disgenet
Epilepsies, Juvenile Myoclonic PLXNB1 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic TFAP2B disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic SELENOP disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic ABCG2 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic KCNJ3 disease C0270853 Biomarker 0.01 disgenet
Epilepsies, Juvenile Myoclonic CPA6 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic BCL9 disease C0270853 GeneticVariation 0.01 disgenet
Epilepsies, Juvenile Myoclonic PER3 disease C0270853 GeneticVariation 0.01 disgenet
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