| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Niemann Pick's Disease Type A | SMPD1 | disease | C0268242 | AlteredExpression | 0.8 | orphanet , disgenet |
| Niemann Pick's Disease Type A | SMPD1 | disease | C0268242 | CausalMutation | 0.8 | orphanet , disgenet |
| Niemann Pick's Disease Type A | SMPD1 | disease | C0268242 | GeneticVariation | 0.8 | orphanet , disgenet |
| Niemann Pick's Disease Type A | SMPD1 | disease | C0268242 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Niemann Pick's Disease Type A | SMPD1 | disease | C0268242 | Biomarker | 0.8 | orphanet , disgenet |
| Niemann Pick's Disease Type A | H19 | disease | C0268242 | GeneticVariation | 0.04 | disgenet |
| Niemann Pick's Disease Type A | H19 | disease | C0268242 | Biomarker | 0.04 | disgenet |
| Niemann Pick's Disease Type A | NPB | disease | C0268242 | Biomarker | 0.02 | disgenet |
| Niemann Pick's Disease Type A | CHIT1 | disease | C0268242 | AlteredExpression | 0.01 | disgenet |
| Niemann Pick's Disease Type A | ATP2B2 | disease | C0268242 | Biomarker | 0.01 | disgenet |
| Niemann Pick's Disease Type A | ATP2B3 | disease | C0268242 | Biomarker | 0.01 | disgenet |
| Niemann Pick's Disease Type A | NPC1 | disease | C0268242 | GeneticVariation | 0.01 | disgenet |
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