| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Sphingolipidoses | PSAP | disease | C0037899 | GeneticVariation | 0.05 | disgenet |
| Sphingolipidoses | PSAP | disease | C0037899 | Biomarker | 0.05 | disgenet |
| Sphingolipidoses | SMPD1 | disease | C0037899 | GeneticVariation | 0.03 | disgenet |
| Sphingolipidoses | SMPD1 | disease | C0037899 | Biomarker | 0.03 | disgenet |
| Sphingolipidoses | SGPL1 | disease | C0037899 | GeneticVariation | 0.02 | disgenet |
| Sphingolipidoses | ATP2A3 | disease | C0037899 | Biomarker | 0.01 | disgenet |
| Sphingolipidoses | POLE | disease | C0037899 | GeneticVariation | 0.01 | disgenet |
| Sphingolipidoses | NPC1 | disease | C0037899 | Biomarker | 0.01 | disgenet |
| Sphingolipidoses | NR0B1 | disease | C0037899 | GeneticVariation | 0.01 | disgenet |
| Sphingolipidoses | CYP11A1 | disease | C0037899 | GeneticVariation | 0.01 | disgenet |
| Sphingolipidoses | BECN1 | disease | C0037899 | AlteredExpression | 0.01 | disgenet |
| Sphingolipidoses | STAR | disease | C0037899 | GeneticVariation | 0.01 | disgenet |
| Sphingolipidoses | NR5A1 | disease | C0037899 | GeneticVariation | 0.01 | disgenet |
| Sphingolipidoses | GLB1 | disease | C0037899 | Biomarker | 0.01 | disgenet |
| Sphingolipidoses | OGA | disease | C0037899 | Biomarker | 0.01 | disgenet |
| Sphingolipidoses | CDKN1C | disease | C0037899 | GeneticVariation | 0.01 | disgenet |
| Sphingolipidoses | SAMD9 | disease | C0037899 | GeneticVariation | 0.01 | disgenet |
| Sphingolipidoses | HSPA4 | disease | C0037899 | Biomarker | 0.01 | disgenet |
| Sphingolipidoses | ARSA | disease | C0037899 | Biomarker | 0.01 | disgenet |
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