Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Abetalipoproteinemia MTTP disease C0000744 GermlineCausalMutation 0.8 orphanet , disgenet
Abetalipoproteinemia MTTP disease C0000744 GeneticVariation 0.8 orphanet , disgenet
Abetalipoproteinemia MTTP disease C0000744 CausalMutation 0.8 orphanet , disgenet
Abetalipoproteinemia MTTP disease C0000744 AlteredExpression 0.8 orphanet , disgenet
Abetalipoproteinemia MTTP disease C0000744 Biomarker 0.8 orphanet , disgenet
Abetalipoproteinemia APOB disease C0000744 AlteredExpression 0.2 disgenet
Abetalipoproteinemia APOB disease C0000744 GeneticVariation 0.2 disgenet
Abetalipoproteinemia APOB disease C0000744 Biomarker 0.2 disgenet
Abetalipoproteinemia PANK2 disease C0000744 GeneticVariation 0.13 disgenet
Abetalipoproteinemia SAR1B disease C0000744 Biomarker 0.13 disgenet
Abetalipoproteinemia VPS13A disease C0000744 GeneticVariation 0.13 disgenet
Abetalipoproteinemia SAR1B disease C0000744 GeneticVariation 0.13 disgenet
Abetalipoproteinemia VPS13A disease C0000744 Biomarker 0.13 disgenet
Abetalipoproteinemia PANK2 disease C0000744 Biomarker 0.13 disgenet
Abetalipoproteinemia GATA1 disease C0000744 GeneticVariation 0.11 disgenet
Abetalipoproteinemia GATA1 disease C0000744 Biomarker 0.11 disgenet
Abetalipoproteinemia CYP4F22 disease C0000744 Biomarker 0.1 disgenet
Abetalipoproteinemia CAD disease C0000744 Biomarker 0.1 disgenet
Abetalipoproteinemia KCNN4 disease C0000744 Biomarker 0.1 disgenet
Abetalipoproteinemia ABL1 disease C0000744 Biomarker 0.1 disgenet
Abetalipoproteinemia ABL1 disease C0000744 AlteredExpression 0.1 disgenet
Abetalipoproteinemia ABL1 disease C0000744 GeneticVariation 0.1 disgenet
Abetalipoproteinemia XK disease C0000744 Biomarker 0.1 disgenet
Abetalipoproteinemia MT1B disease C0000744 GeneticVariation 0.06 disgenet
Abetalipoproteinemia HADHB disease C0000744 GeneticVariation 0.06 disgenet
Abetalipoproteinemia HADHA disease C0000744 GeneticVariation 0.05 disgenet
Abetalipoproteinemia HADHA disease C0000744 Biomarker 0.05 disgenet
Abetalipoproteinemia BCR disease C0000744 Biomarker 0.05 disgenet
Abetalipoproteinemia EVPL disease C0000744 Biomarker 0.04 disgenet
Abetalipoproteinemia RN7SL263P disease C0000744 Biomarker 0.03 disgenet
Abetalipoproteinemia MPO disease C0000744 AlteredExpression 0.02 disgenet
Abetalipoproteinemia GPT disease C0000744 AlteredExpression 0.02 disgenet
Abetalipoproteinemia LGALS1 disease C0000744 GeneticVariation 0.02 disgenet
Abetalipoproteinemia LGALS1 disease C0000744 Biomarker 0.02 disgenet
Abetalipoproteinemia TNFSF11 disease C0000744 AlteredExpression 0.02 disgenet
Abetalipoproteinemia PRL disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia ACTB disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia NPM1 disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia PART1 disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia EBI3 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia TNFRSF11B disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia CRLF2 disease C0000744 AlteredExpression 0.01 disgenet
Abetalipoproteinemia EPHA4 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia JAK2 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia IL18R1 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia KMT2A disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia JPH3 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia WASF1 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia H3P9 disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia FABP1 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia TNFRSF11A disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia LDLR disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia MYB disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia ABL2 disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia ETV6 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia MRPL28 disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia GFI1 disease C0000744 AlteredExpression 0.01 disgenet
Abetalipoproteinemia CBL disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia IL11 disease C0000744 AlteredExpression 0.01 disgenet
Abetalipoproteinemia NOX4 disease C0000744 AlteredExpression 0.01 disgenet
Abetalipoproteinemia ALK disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia SORBS2 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia IL10 disease C0000744 AlteredExpression 0.01 disgenet
Abetalipoproteinemia MAP3K1 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia SMR3B disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia APOE disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia NXT1 disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia HDL3 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia CCL2 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia PTP4A3 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia HIF1A disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia TEK disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia FAM107B disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia CD34 disease C0000744 AlteredExpression 0.01 disgenet
Abetalipoproteinemia CDKN2B disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia PIK3C2A disease C0000744 AlteredExpression 0.01 disgenet
Abetalipoproteinemia PTPN1 disease C0000744 Biomarker 0.01 disgenet
Abetalipoproteinemia SUB1 disease C0000744 GeneticVariation 0.01 disgenet
Abetalipoproteinemia PCSK9 disease C0000744 GeneticVariation 0.01 disgenet
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