| 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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