Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Lafora Disease NHLRC1 disease C0751783 Biomarker 1 orphanet , disgenet
Lafora Disease EPM2A disease C0751783 Biomarker 1 orphanet , disgenet
Lafora Disease EPM2A disease C0751783 AlteredExpression 1 orphanet , disgenet
Lafora Disease EPM2A disease C0751783 CausalMutation 1 orphanet , disgenet
Lafora Disease NHLRC1 disease C0751783 GeneticVariation 1 orphanet , disgenet
Lafora Disease EPM2A disease C0751783 GermlineCausalMutation 1 orphanet , disgenet
Lafora Disease EPM2A disease C0751783 GeneticVariation 1 orphanet , disgenet
Lafora Disease NHLRC1 disease C0751783 AlteredExpression 1 orphanet , disgenet
Lafora Disease NHLRC1 disease C0751783 GermlineCausalMutation 1 orphanet , disgenet
Lafora Disease NHLRC1 disease C0751783 CausalMutation 1 orphanet , disgenet
Lafora Disease SNCA disease C0751783 Biomarker 0.1 disgenet
Lafora Disease SNCA disease C0751783 AlteredExpression 0.1 disgenet
Lafora Disease SNCA disease C0751783 GeneticVariation 0.1 disgenet
Lafora Disease APOE disease C0751783 PosttranslationalModification 0.08 disgenet
Lafora Disease APOE disease C0751783 GeneticVariation 0.08 disgenet
Lafora Disease APOE disease C0751783 Biomarker 0.08 disgenet
Lafora Disease MUL1 disease C0751783 Biomarker 0.07 disgenet
Lafora Disease MUL1 disease C0751783 GeneticVariation 0.07 disgenet
Lafora Disease PRKN disease C0751783 GeneticVariation 0.07 disgenet
Lafora Disease CBLL2 disease C0751783 Biomarker 0.07 disgenet
Lafora Disease PRKN disease C0751783 Biomarker 0.07 disgenet
Lafora Disease CBLL2 disease C0751783 GeneticVariation 0.07 disgenet
Lafora Disease GBA disease C0751783 Biomarker 0.04 disgenet
Lafora Disease GBA disease C0751783 AlteredExpression 0.04 disgenet
Lafora Disease GBA disease C0751783 GeneticVariation 0.04 disgenet
Lafora Disease CSTB disease C0751783 Biomarker 0.03 disgenet
Lafora Disease CSTB disease C0751783 GeneticVariation 0.03 disgenet
Lafora Disease NNAT disease C0751783 Biomarker 0.03 disgenet
Lafora Disease OPN1MW3 disease C0751783 GeneticVariation 0.02 disgenet
Lafora Disease MAPT disease C0751783 Biomarker 0.02 disgenet
Lafora Disease OPN1MW3 disease C0751783 Biomarker 0.02 disgenet
Lafora Disease LAMP2 disease C0751783 Biomarker 0.02 disgenet
Lafora Disease MAPT disease C0751783 GeneticVariation 0.02 disgenet
Lafora Disease LRRK2 disease C0751783 GeneticVariation 0.02 disgenet
Lafora Disease LAMP2 disease C0751783 AlteredExpression 0.02 disgenet
Lafora Disease OPN1MW disease C0751783 GeneticVariation 0.02 disgenet
Lafora Disease CTSD disease C0751783 Biomarker 0.02 disgenet
Lafora Disease LAMP1 disease C0751783 AlteredExpression 0.02 disgenet
Lafora Disease OPN1MW disease C0751783 Biomarker 0.02 disgenet
Lafora Disease SNCB disease C0751783 AlteredExpression 0.02 disgenet
Lafora Disease CTSD disease C0751783 AlteredExpression 0.02 disgenet
Lafora Disease CYP2D6 disease C0751783 GeneticVariation 0.02 disgenet
Lafora Disease OPN1MW2 disease C0751783 GeneticVariation 0.02 disgenet
Lafora Disease OPN1MW2 disease C0751783 Biomarker 0.02 disgenet
Lafora Disease EPM2AIP1 disease C0751783 GeneticVariation 0.02 disgenet
Lafora Disease EPM2AIP1 disease C0751783 Biomarker 0.02 disgenet
Lafora Disease LAMP1 disease C0751783 Biomarker 0.02 disgenet
Lafora Disease LRRK2 disease C0751783 Biomarker 0.02 disgenet
Lafora Disease CYP2D6 disease C0751783 AlteredExpression 0.02 disgenet
Lafora Disease NGF disease C0751783 Biomarker 0.01 disgenet
Lafora Disease GRK2 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease HSPA4 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease SNCG disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease MECP2 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease RMDN1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease HSP90B1 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease SCN1A disease C0751783 Biomarker 0.01 disgenet
Lafora Disease MAP1LC3A disease C0751783 Biomarker 0.01 disgenet
Lafora Disease FGFR3 disease C0751783 PosttranslationalModification 0.01 disgenet
Lafora Disease LMTK2 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease BDNF disease C0751783 Biomarker 0.01 disgenet
Lafora Disease HSF1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease TARDBP disease C0751783 Biomarker 0.01 disgenet
Lafora Disease KHDRBS1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease RMDN2 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease PVALB disease C0751783 Biomarker 0.01 disgenet
Lafora Disease AMY2A disease C0751783 Biomarker 0.01 disgenet
Lafora Disease GRN disease C0751783 Biomarker 0.01 disgenet
Lafora Disease CRMP1 disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease BCHE disease C0751783 Biomarker 0.01 disgenet
Lafora Disease PARN disease C0751783 Biomarker 0.01 disgenet
Lafora Disease GTF2H1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease CST3 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease SYBU disease C0751783 Biomarker 0.01 disgenet
Lafora Disease BCL2L13 disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease CASP2 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease TRIM32 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease ACP1 disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease DCTN4 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease ACHE disease C0751783 Biomarker 0.01 disgenet
Lafora Disease TTR disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease NBL1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease RMDN3 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease DNAJC13 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease DNM1L disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease BCKDK disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease DENR disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease CLN5 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease DAPK2 disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease MIR4697 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease GLUL disease C0751783 Biomarker 0.01 disgenet
Lafora Disease VCP disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease ATP13A2 disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease PPP1R3C disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease NFU1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease PPP1R3B disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease KRAS disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease NUP62 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease STX1B disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease PFKL disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease CLN3 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease DSP disease C0751783 Biomarker 0.01 disgenet
Lafora Disease UTRN disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease EJM2 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease DCP1A disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease GYG1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease GRK5 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease GFAP disease C0751783 Biomarker 0.01 disgenet
Lafora Disease HSPA5 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease PTEN disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease HIPK2 disease C0751783 AlteredExpression 0.01 disgenet
Lafora Disease SLC1A2 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease SERPINI1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease CHCHD2 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease TPP1 disease C0751783 GeneticVariation 0.01 disgenet
Lafora Disease INSRR disease C0751783 Biomarker 0.01 disgenet
Lafora Disease SQSTM1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease AR disease C0751783 Biomarker 0.01 disgenet
Lafora Disease MICOS10-NBL1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease CHI3L1 disease C0751783 Biomarker 0.01 disgenet
Lafora Disease PRDM8 NA C0751783 NA NA orphanet
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