| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Niemann Pick Disease | SMPD1 | group | C0028064 | AlteredExpression | 0.7 | orphanet , disgenet |
| Niemann Pick Disease | SMPD1 | group | C0028064 | Biomarker | 0.7 | orphanet , disgenet |
| Niemann Pick Disease | SMPD1 | group | C0028064 | GeneticVariation | 0.7 | orphanet , disgenet |
| Niemann Pick Disease | SMPD1 | group | C0028064 | CausalMutation | 0.7 | orphanet , disgenet |
| Niemann Pick Disease | NPC1 | group | C0028064 | GeneticVariation | 0.24 | disgenet |
| Niemann Pick Disease | NPC1 | group | C0028064 | Biomarker | 0.24 | disgenet |
| Niemann Pick Disease | NPC2 | group | C0028064 | Biomarker | 0.21 | disgenet |
| Niemann Pick Disease | NPC2 | group | C0028064 | GeneticVariation | 0.21 | disgenet |
| Niemann Pick Disease | H19 | group | C0028064 | GeneticVariation | 0.1 | disgenet |
| Niemann Pick Disease | H19 | group | C0028064 | Biomarker | 0.1 | disgenet |
| Niemann Pick Disease | H19 | group | C0028064 | AlteredExpression | 0.1 | disgenet |
| Niemann Pick Disease | CTSB | group | C0028064 | Biomarker | 0.02 | disgenet |
| Niemann Pick Disease | GBA | group | C0028064 | Biomarker | 0.02 | disgenet |
| Niemann Pick Disease | CHIT1 | group | C0028064 | AlteredExpression | 0.02 | disgenet |
| Niemann Pick Disease | CTSB | group | C0028064 | AlteredExpression | 0.02 | disgenet |
| Niemann Pick Disease | MPEG1 | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | TTK | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | SMPDL3A | group | C0028064 | GeneticVariation | 0.01 | disgenet |
| Niemann Pick Disease | NPB | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | SMPD2 | group | C0028064 | AlteredExpression | 0.01 | disgenet |
| Niemann Pick Disease | OGA | group | C0028064 | GeneticVariation | 0.01 | disgenet |
| Niemann Pick Disease | SREBF2 | group | C0028064 | AlteredExpression | 0.01 | disgenet |
| Niemann Pick Disease | IDUA | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | GALC | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | GLA | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | APOE | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | RPS27 | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | TLR4 | group | C0028064 | AlteredExpression | 0.01 | disgenet |
| Niemann Pick Disease | MGAM | group | C0028064 | AlteredExpression | 0.01 | disgenet |
| Niemann Pick Disease | SI | group | C0028064 | AlteredExpression | 0.01 | disgenet |
| Niemann Pick Disease | ABCA1 | group | C0028064 | AlteredExpression | 0.01 | disgenet |
| Niemann Pick Disease | HSPA4 | group | C0028064 | Biomarker | 0.01 | disgenet |
| Niemann Pick Disease | GM2AP1 | group | C0028064 | Biomarker | 0.01 | disgenet |
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