Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epilepsies, Myoclonic SCN1A disease C0014550 GeneticVariation 0.4 disgenet
Epilepsies, Myoclonic SCN1A disease C0014550 Biomarker 0.4 disgenet
Epilepsies, Myoclonic STXBP1 disease C0014550 Biomarker 0.31 disgenet
Epilepsies, Myoclonic STXBP1 disease C0014550 GeneticVariation 0.31 disgenet
Epilepsies, Myoclonic RAPGEF2 disease C0014550 Biomarker 0.3 disgenet
Epilepsies, Myoclonic SAMD12 disease C0014550 Biomarker 0.3 orphanet , disgenet
Epilepsies, Myoclonic PMP22 disease C0014550 Biomarker 0.3 disgenet
Epilepsies, Myoclonic TNRC6A disease C0014550 Biomarker 0.3 disgenet
Epilepsies, Myoclonic SCN9A disease C0014550 Biomarker 0.3 disgenet
Epilepsies, Myoclonic HEXB disease C0014550 Biomarker 0.3 disgenet
Epilepsies, Myoclonic POMC disease C0014550 Therapeutic 0.3 disgenet
Epilepsies, Myoclonic CSTB disease C0014550 GeneticVariation 0.08 disgenet
Epilepsies, Myoclonic CSTB disease C0014550 AlteredExpression 0.08 disgenet
Epilepsies, Myoclonic CSTB disease C0014550 Biomarker 0.08 disgenet
Epilepsies, Myoclonic ARX disease C0014550 GeneticVariation 0.04 disgenet
Epilepsies, Myoclonic CHD2 disease C0014550 GeneticVariation 0.03 disgenet
Epilepsies, Myoclonic CDKL5 disease C0014550 GeneticVariation 0.03 disgenet
Epilepsies, Myoclonic CHD2 disease C0014550 Biomarker 0.03 disgenet
Epilepsies, Myoclonic SCARB2 disease C0014550 Biomarker 0.03 disgenet
Epilepsies, Myoclonic MEF2C disease C0014550 GeneticVariation 0.02 disgenet
Epilepsies, Myoclonic ADGRV1 disease C0014550 Biomarker 0.02 disgenet
Epilepsies, Myoclonic ND5 disease C0014550 GeneticVariation 0.02 disgenet
Epilepsies, Myoclonic PRICKLE1 disease C0014550 GeneticVariation 0.02 disgenet
Epilepsies, Myoclonic EPM2A disease C0014550 GeneticVariation 0.02 disgenet
Epilepsies, Myoclonic ADGRV1 disease C0014550 GeneticVariation 0.02 disgenet
Epilepsies, Myoclonic NDUFA1 disease C0014550 GeneticVariation 0.02 disgenet
Epilepsies, Myoclonic CACNA1A disease C0014550 GeneticVariation 0.02 disgenet
Epilepsies, Myoclonic MEF2C disease C0014550 Biomarker 0.02 disgenet
Epilepsies, Myoclonic PPR1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SCN8A disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic COQ2 disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic BRD2 disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic SNURF disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic NDUFV1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SLC25A22 disease C0014550 AlteredExpression 0.01 disgenet
Epilepsies, Myoclonic GLRA1 disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic CERS1 disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic GBA disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SNRPN disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic MPV17 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic KCNC1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic TRIT1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic ND6 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic TK2 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic DIRAS1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SLC1A6 disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic CSNK2B disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic PIGW disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic KIF5A disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic NUS1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic ATN1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SLC2A1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic FOLR1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic STMN1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic INPP4A disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic SMN2 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic COX2 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic KCTD7 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SCN2A disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic TCOF1 disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic SYNGAP1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic PPR2 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic EFHC2 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic TRNK disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic KCNA2 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic POLG disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SPTAN1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic GLUD1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic CACNB4 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic EEF1A2 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic ASAH1 disease C0014550 GeneticVariation 0.01 orphanet , disgenet
Epilepsies, Myoclonic SETD1B disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic SMN1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic MARCHF6 disease C0014550 GeneticVariation 0.01 orphanet , disgenet
Epilepsies, Myoclonic FOXG1 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic CPLX1 disease C0014550 Biomarker 0.01 disgenet
Epilepsies, Myoclonic RFX3 disease C0014550 GeneticVariation 0.01 disgenet
Epilepsies, Myoclonic ARSA disease C0014550 AlteredExpression 0.01 disgenet
Epilepsies, Myoclonic YEATS2 NA C0014550 NA NA orphanet
Epilepsies, Myoclonic AFG3L2 NA C0014550 NA NA orphanet
Epilepsies, Myoclonic ADRA2B NA C0014550 NA NA orphanet
Epilepsies, Myoclonic CTNND2 NA C0014550 NA NA orphanet
Epilepsies, Myoclonic CNTN2 NA C0014550 NA NA orphanet
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