Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Absence Epilepsy CACNA1A disease C0014553 GeneticVariation 0.76 disgenet
Absence Epilepsy CACNA1A disease C0014553 Biomarker 0.76 disgenet
Absence Epilepsy CACNA2D2 disease C0014553 Biomarker 0.51 disgenet
Absence Epilepsy CACNA1H disease C0014553 Biomarker 0.5 orphanet , disgenet
Absence Epilepsy GABRB3 disease C0014553 Biomarker 0.5 orphanet , disgenet
Absence Epilepsy GABRB3 disease C0014553 AlteredExpression 0.5 orphanet , disgenet
Absence Epilepsy GABRB3 disease C0014553 GeneticVariation 0.5 orphanet , disgenet
Absence Epilepsy CACNA1H disease C0014553 GeneticVariation 0.5 orphanet , disgenet
Absence Epilepsy JRK disease C0014553 Biomarker 0.42 orphanet , disgenet
Absence Epilepsy JRK disease C0014553 GeneticVariation 0.42 orphanet , disgenet
Absence Epilepsy KCNK9 disease C0014553 GeneticVariation 0.31 disgenet
Absence Epilepsy KCNK9 disease C0014553 Biomarker 0.31 disgenet
Absence Epilepsy EFHC1 disease C0014553 Biomarker 0.31 orphanet , disgenet
Absence Epilepsy EFHC1 disease C0014553 GeneticVariation 0.31 orphanet , disgenet
Absence Epilepsy HCN1 disease C0014553 GeneticVariation 0.23 disgenet
Absence Epilepsy HCN1 disease C0014553 Biomarker 0.23 disgenet
Absence Epilepsy NPY disease C0014553 Therapeutic 0.22 disgenet
Absence Epilepsy NPY disease C0014553 Biomarker 0.22 disgenet
Absence Epilepsy NPY5R disease C0014553 Therapeutic 0.2 disgenet
Absence Epilepsy CACNG2 disease C0014553 Biomarker 0.2 disgenet
Absence Epilepsy GABRG2 disease C0014553 GeneticVariation 0.2 orphanet , disgenet
Absence Epilepsy GABRG2 disease C0014553 Biomarker 0.2 orphanet , disgenet
Absence Epilepsy HTR7 disease C0014553 Biomarker 0.2 disgenet
Absence Epilepsy GLUD1 disease C0014553 Biomarker 0.2 disgenet
Absence Epilepsy NPY2R disease C0014553 Therapeutic 0.2 disgenet
Absence Epilepsy YWHAZ disease C0014553 Biomarker 0.2 disgenet
Absence Epilepsy MMP9 disease C0014553 Biomarker 0.2 disgenet
Absence Epilepsy NPY1R disease C0014553 Therapeutic 0.2 disgenet
Absence Epilepsy SLC2A1 disease C0014553 GeneticVariation 0.2 orphanet , disgenet
Absence Epilepsy SLC2A1 disease C0014553 Biomarker 0.2 orphanet , disgenet
Absence Epilepsy GABRA1 disease C0014553 Biomarker 0.11 orphanet , disgenet
Absence Epilepsy GABRA1 disease C0014553 GeneticVariation 0.11 orphanet , disgenet
Absence Epilepsy PVALB disease C0014553 Biomarker 0.03 disgenet
Absence Epilepsy CACNA1G disease C0014553 GeneticVariation 0.03 disgenet
Absence Epilepsy ECA1 disease C0014553 GeneticVariation 0.03 disgenet
Absence Epilepsy ECA1 disease C0014553 Biomarker 0.03 disgenet
Absence Epilepsy NIPA2 disease C0014553 Biomarker 0.03 disgenet
Absence Epilepsy NIPA2 disease C0014553 GeneticVariation 0.03 disgenet
Absence Epilepsy PVALB disease C0014553 AlteredExpression 0.03 disgenet
Absence Epilepsy GJA8 disease C0014553 Biomarker 0.02 disgenet
Absence Epilepsy CACNA1I disease C0014553 GeneticVariation 0.02 disgenet
Absence Epilepsy SCN8A disease C0014553 Biomarker 0.02 disgenet
Absence Epilepsy SCN8A disease C0014553 GeneticVariation 0.02 disgenet
Absence Epilepsy GJA8 disease C0014553 GeneticVariation 0.02 disgenet
Absence Epilepsy GABBR1 disease C0014553 Biomarker 0.02 disgenet
Absence Epilepsy CACNA1I disease C0014553 Biomarker 0.02 disgenet
Absence Epilepsy CAV3 disease C0014553 Biomarker 0.02 disgenet
Absence Epilepsy GABRA5 disease C0014553 GeneticVariation 0.02 disgenet
Absence Epilepsy CAV3 disease C0014553 GeneticVariation 0.02 disgenet
Absence Epilepsy GABRA5 disease C0014553 Biomarker 0.02 disgenet
Absence Epilepsy CLCN2 disease C0014553 GeneticVariation 0.02 disgenet
Absence Epilepsy SLC1A2 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy INHA disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy ALPP disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy SCN1A disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy LGI4 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy CACNG3 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy CNTNAP2 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy PCNX2 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy GRIA2 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy THBS1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy IL6 disease C0014553 AlteredExpression 0.01 disgenet
Absence Epilepsy KCNJ10 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy GFAP disease C0014553 AlteredExpression 0.01 disgenet
Absence Epilepsy ABCB1 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy CLN8 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy GRM1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy PDIA3 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy PIGO disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy HTR1A disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy KCNQ3 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy MIR597 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy GABRD disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy MAGT1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy BRAT1 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy NOTCH1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy ALPI disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy PLCB4 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy LOH19CR1 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy TRAK1 disease C0014553 AlteredExpression 0.01 disgenet
Absence Epilepsy SMC1A disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy RORB disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy KHDRBS3 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy ESR1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy EGR1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy CD47 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy IAPP disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy RPS19 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy SCN1B disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy HTR2A disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy TCOF1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy NLE1 disease C0014553 AlteredExpression 0.01 disgenet
Absence Epilepsy SLC6A1 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy OPRM1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy CHRNA7 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy SREBF1 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy GRIA4 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy PI3 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy RCN2 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy MEF2C disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy DBA2 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy GRM4 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy CANX disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy DYRK1A disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy HSP90AB1 disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy IGHE disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy UBE3A disease C0014553 Biomarker 0.01 disgenet
Absence Epilepsy GABRA6 disease C0014553 GeneticVariation 0.01 disgenet
Absence Epilepsy MECP2 disease C0014553 Biomarker 0.01 disgenet
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