| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Niemann-Pick disease, type C2 | NPC2 | disease | C1843366 | Biomarker | 0.78 | orphanet , disgenet |
| Niemann-Pick disease, type C2 | NPC2 | disease | C1843366 | GeneticVariation | 0.78 | orphanet , disgenet |
| Niemann-Pick disease, type C2 | NPC2 | disease | C1843366 | CausalMutation | 0.78 | orphanet , disgenet |
| Niemann-Pick disease, type C2 | NPC2 | disease | C1843366 | AlteredExpression | 0.78 | orphanet , disgenet |
| Niemann-Pick disease, type C2 | NPC1 | disease | C1843366 | Biomarker | 0.04 | disgenet |
| Niemann-Pick disease, type C2 | NPC1 | disease | C1843366 | GeneticVariation | 0.04 | disgenet |
| Niemann-Pick disease, type C2 | TNF | disease | C1843366 | AlteredExpression | 0.01 | disgenet |
| Niemann-Pick disease, type C2 | LDLR | disease | C1843366 | Biomarker | 0.01 | disgenet |
| Niemann-Pick disease, type C2 | NEGR1 | disease | C1843366 | Biomarker | 0.01 | disgenet |
| Niemann-Pick disease, type C2 | COL1A1 | disease | C1843366 | AlteredExpression | 0.01 | disgenet |
| Niemann-Pick disease, type C2 | DKC1 | disease | C1843366 | GeneticVariation | 0.01 | disgenet |
| Niemann-Pick disease, type C2 | ABCA1 | disease | C1843366 | AlteredExpression | 0.01 | disgenet |
| Niemann-Pick disease, type C2 | GNAS | disease | C1843366 | GeneticVariation | 0.01 | disgenet |
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