| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Lipoid Proteinosis of Urbach and Wiethe | ECM1 | disease | C0023795 | GeneticVariation | 0.8 | orphanet , disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | ECM1 | disease | C0023795 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | ECM1 | disease | C0023795 | AlteredExpression | 0.8 | orphanet , disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | ECM1 | disease | C0023795 | Biomarker | 0.8 | orphanet , disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | ECM1 | disease | C0023795 | CausalMutation | 0.8 | orphanet , disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | MMP9 | disease | C0023795 | AlteredExpression | 0.02 | disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | MMP9 | disease | C0023795 | Biomarker | 0.02 | disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | SFTPC | disease | C0023795 | GeneticVariation | 0.01 | disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | LAMC1 | disease | C0023795 | AlteredExpression | 0.01 | disgenet |
| Lipoid Proteinosis of Urbach and Wiethe | NPC2 | disease | C0023795 | Biomarker | 0.01 | disgenet |
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