Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Disease, Lysosomal Storage SLC17A5 group C0085078 GeneticVariation 0.21 disgenet
Disease, Lysosomal Storage SLC17A5 group C0085078 Biomarker 0.21 disgenet
Disease, Lysosomal Storage FCGR2B group C0085078 Biomarker 0.2 disgenet
Disease, Lysosomal Storage NPC2 group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage IDS group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GRN group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage GBAP1 group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage NPC2 group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage ARSA group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage IDS group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage SI group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GBA group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage GBAP1 group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage ARSB group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage IDUA group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage GRN group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GLB1 group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GRN group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage SI group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage GBA group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage GLA group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GLB1 group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage IDS group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage NPC1 group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage CLN3 group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage GBA group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage SGSH group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage MGAM group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage GBAP1 group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage AGA group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage OGA group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage SGSH group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage IDUA group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage ARSA group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage ARSA group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage IDUA group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage GLA group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage GUSB group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GLA group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage GUSB group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage MCOLN1 group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage SMPD1 group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage AGA group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage GALNS group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GUSB group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage MGAM group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage NPC1 group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage ARSB group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage MCOLN1 group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage CLN3 group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage SMPD1 group C0085078 GeneticVariation 0.1 disgenet
Disease, Lysosomal Storage GALNS group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage SMPD1 group C0085078 AlteredExpression 0.1 disgenet
Disease, Lysosomal Storage OGA group C0085078 Biomarker 0.1 disgenet
Disease, Lysosomal Storage TFEB group C0085078 Biomarker 0.09 disgenet
Disease, Lysosomal Storage TFEB group C0085078 GeneticVariation 0.09 disgenet
Disease, Lysosomal Storage TFEB group C0085078 AlteredExpression 0.09 disgenet
Disease, Lysosomal Storage NAGLU group C0085078 Biomarker 0.08 disgenet
Disease, Lysosomal Storage NAGLU group C0085078 GeneticVariation 0.08 disgenet
Disease, Lysosomal Storage CTNS group C0085078 GeneticVariation 0.08 disgenet
Disease, Lysosomal Storage CTNS group C0085078 Biomarker 0.08 disgenet
Disease, Lysosomal Storage CTNS group C0085078 AlteredExpression 0.08 disgenet
Disease, Lysosomal Storage RPS27 group C0085078 GeneticVariation 0.07 disgenet
Disease, Lysosomal Storage MPEG1 group C0085078 Biomarker 0.07 disgenet
Disease, Lysosomal Storage RPS27 group C0085078 Biomarker 0.07 disgenet
Disease, Lysosomal Storage MPEG1 group C0085078 GeneticVariation 0.07 disgenet
Disease, Lysosomal Storage GALC group C0085078 GeneticVariation 0.07 disgenet
Disease, Lysosomal Storage TTK group C0085078 Biomarker 0.07 disgenet
Disease, Lysosomal Storage TTK group C0085078 GeneticVariation 0.07 disgenet
Disease, Lysosomal Storage PPT1 group C0085078 AlteredExpression 0.07 disgenet
Disease, Lysosomal Storage PPT1 group C0085078 Biomarker 0.07 disgenet
Disease, Lysosomal Storage GALC group C0085078 Biomarker 0.07 disgenet
Disease, Lysosomal Storage PPT1 group C0085078 GeneticVariation 0.07 disgenet
Disease, Lysosomal Storage DNASE1L3 group C0085078 Biomarker 0.06 disgenet
Disease, Lysosomal Storage GAA group C0085078 Biomarker 0.06 disgenet
Disease, Lysosomal Storage DNASE1L3 group C0085078 GeneticVariation 0.06 disgenet
Disease, Lysosomal Storage SNCA group C0085078 Biomarker 0.06 disgenet
Disease, Lysosomal Storage MAN2B1 group C0085078 GeneticVariation 0.06 disgenet
Disease, Lysosomal Storage CHIT1 group C0085078 AlteredExpression 0.06 disgenet
Disease, Lysosomal Storage GNPTAB group C0085078 Biomarker 0.06 disgenet
Disease, Lysosomal Storage GAA group C0085078 GeneticVariation 0.06 disgenet
Disease, Lysosomal Storage SNCA group C0085078 AlteredExpression 0.06 disgenet
Disease, Lysosomal Storage CHIT1 group C0085078 Biomarker 0.06 disgenet
Disease, Lysosomal Storage MAN2B1 group C0085078 AlteredExpression 0.06 disgenet
Disease, Lysosomal Storage MAN2B1 group C0085078 Biomarker 0.06 disgenet
Disease, Lysosomal Storage GNPTAB group C0085078 GeneticVariation 0.06 disgenet
Disease, Lysosomal Storage ASAH1 group C0085078 Biomarker 0.05 disgenet
Disease, Lysosomal Storage ASAH1 group C0085078 AlteredExpression 0.05 disgenet
Disease, Lysosomal Storage MFSD8 group C0085078 GeneticVariation 0.04 disgenet
Disease, Lysosomal Storage TPP1 group C0085078 Biomarker 0.04 disgenet
Disease, Lysosomal Storage MFSD8 group C0085078 Biomarker 0.04 disgenet
Disease, Lysosomal Storage HEXA group C0085078 GeneticVariation 0.04 disgenet
Disease, Lysosomal Storage PSAP group C0085078 Biomarker 0.04 disgenet
Disease, Lysosomal Storage TPP1 group C0085078 GeneticVariation 0.04 disgenet
Disease, Lysosomal Storage PSAP group C0085078 GeneticVariation 0.04 disgenet
Disease, Lysosomal Storage TPP1 group C0085078 AlteredExpression 0.04 disgenet
Disease, Lysosomal Storage CTSA group C0085078 GeneticVariation 0.04 disgenet
Disease, Lysosomal Storage CTSB group C0085078 Biomarker 0.03 disgenet
Disease, Lysosomal Storage NEU1 group C0085078 AlteredExpression 0.03 disgenet
Disease, Lysosomal Storage FUT1 group C0085078 Biomarker 0.03 disgenet
Disease, Lysosomal Storage NEU1 group C0085078 GeneticVariation 0.03 disgenet
Disease, Lysosomal Storage FUT1 group C0085078 GeneticVariation 0.03 disgenet
Disease, Lysosomal Storage GNPTG group C0085078 GeneticVariation 0.03 disgenet
Disease, Lysosomal Storage MANBA group C0085078 GeneticVariation 0.03 disgenet
Disease, Lysosomal Storage MANBA group C0085078 Biomarker 0.03 disgenet
Disease, Lysosomal Storage SUMF1 group C0085078 GeneticVariation 0.02 disgenet
Disease, Lysosomal Storage GNS group C0085078 AlteredExpression 0.02 disgenet
Disease, Lysosomal Storage CLCN7 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage GNS group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage CLN8 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage MCOLN3 group C0085078 GeneticVariation 0.02 disgenet
Disease, Lysosomal Storage SUMF1 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage OSTM1 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage MCOLN3 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage LIPA group C0085078 GeneticVariation 0.02 disgenet
Disease, Lysosomal Storage H19 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage OSTM1 group C0085078 GeneticVariation 0.02 disgenet
Disease, Lysosomal Storage ATP13A2 group C0085078 GeneticVariation 0.02 disgenet
Disease, Lysosomal Storage ATP13A2 group C0085078 AlteredExpression 0.02 disgenet
Disease, Lysosomal Storage CAV2 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage ELF3 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage LIPA group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage ALAS2 group C0085078 AlteredExpression 0.02 disgenet
Disease, Lysosomal Storage ALAS2 group C0085078 GeneticVariation 0.02 disgenet
Disease, Lysosomal Storage MCOLN2 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage PPT2 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage HSPA4 group C0085078 Biomarker 0.02 disgenet
Disease, Lysosomal Storage FIG4 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage LAMP2 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage CTSD group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage PCSK9 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage SHH group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage SSTR2 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage APP group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage CAPN8 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage RMDN2 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage PRKAB1 group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage MTOR group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage CD1B group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage ANGPT2 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage SLC66A1 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage CLN6 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage EDIL3 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage ACP5 group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage BNIP3 group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage CD34 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage HSD17B1 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage VPS51 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage ARSI group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage GPNMB group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage RMDN1 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage PLIN2 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage VPS11 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage PPARA group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage UNC13D group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage ARSK group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage KCTD7 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage PIP4K2A group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage FBN2 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage BTN1A1 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage EEA1 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage ABHD6 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage SLC29A3 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage AFP group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage HEXB group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage KCNH2 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage RMDN3 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage VEGFA group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage PIK3R4 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage IGF2R group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage ACTB group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage ELF4 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage SYBU group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage GAL group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage FUCA1 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage PRKAA1 group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage CAPN3 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage HHEX group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage TBCK group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage CD1D group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage HYAL1 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage ARSG group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage FHL3 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage XPR1 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage PRKAA2 group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage COX4I1 group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage HTT group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage STX8 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage CLCN6 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage TP53 group C0085078 GeneticVariation 0.01 disgenet
Disease, Lysosomal Storage MEFV group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage PLP1 group C0085078 Biomarker 0.01 disgenet
Disease, Lysosomal Storage BNIP3L group C0085078 AlteredExpression 0.01 disgenet
Disease, Lysosomal Storage C5AR1 group C0085078 Biomarker 0.01 disgenet
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