Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cerebrotendinous Xanthomatoses CYP27A1 disease C0238052 Biomarker 0.8 orphanet , disgenet
Cerebrotendinous Xanthomatoses CYP27A1 disease C0238052 GeneticVariation 0.8 orphanet , disgenet
Cerebrotendinous Xanthomatoses CYP27A1 disease C0238052 CausalMutation 0.8 orphanet , disgenet
Cerebrotendinous Xanthomatoses CYP27A1 disease C0238052 AlteredExpression 0.8 orphanet , disgenet
Cerebrotendinous Xanthomatoses IL2 disease C0238052 Biomarker 0.02 disgenet
Cerebrotendinous Xanthomatoses IL2 disease C0238052 AlteredExpression 0.02 disgenet
Cerebrotendinous Xanthomatoses IL6 disease C0238052 AlteredExpression 0.02 disgenet
Cerebrotendinous Xanthomatoses BGLAP disease C0238052 Biomarker 0.02 disgenet
Cerebrotendinous Xanthomatoses SPG11 disease C0238052 GeneticVariation 0.02 disgenet
Cerebrotendinous Xanthomatoses CYP2B6 disease C0238052 GeneticVariation 0.02 disgenet
Cerebrotendinous Xanthomatoses SPG11 disease C0238052 Biomarker 0.02 disgenet
Cerebrotendinous Xanthomatoses CYP27B1 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses SLC26A4 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses SLC6A3 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses KRAS disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses FTO disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses TP53 disease C0238052 GeneticVariation 0.01 disgenet
Cerebrotendinous Xanthomatoses PTGDS disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses XPR1 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses B4GALNT2 disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses LDLR disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses INSL6 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses MIR98 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses NR1H4 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses CTSK disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses SSPN disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses IL10 disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses SIRT1 disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses HNF4A disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses MBD2 disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses POU2F2 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses PTH disease C0238052 GeneticVariation 0.01 disgenet
Cerebrotendinous Xanthomatoses UTRN disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses CYP3A4 disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses SLC10A1 disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses MTRR disease C0238052 GeneticVariation 0.01 disgenet
Cerebrotendinous Xanthomatoses HLA-A disease C0238052 GeneticVariation 0.01 disgenet
Cerebrotendinous Xanthomatoses CFB disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses HSD11B1 disease C0238052 GeneticVariation 0.01 disgenet
Cerebrotendinous Xanthomatoses OCLN disease C0238052 AlteredExpression 0.01 disgenet
Cerebrotendinous Xanthomatoses SPG7 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses IFNG disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses HSD11B2 disease C0238052 GeneticVariation 0.01 disgenet
Cerebrotendinous Xanthomatoses SLC22A2 disease C0238052 Biomarker 0.01 disgenet
Cerebrotendinous Xanthomatoses TNF disease C0238052 Biomarker 0.01 disgenet
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