| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Dyssegmental dysplasia | HSPG2 | disease | C1857100 | GeneticVariation | 0.83 | orphanet , disgenet |
| Dyssegmental dysplasia | HSPG2 | disease | C1857100 | GermlineCausalMutation | 0.83 | orphanet , disgenet |
| Dyssegmental dysplasia | HSPG2 | disease | C1857100 | Biomarker | 0.83 | orphanet , disgenet |
| Dyssegmental dysplasia | MMP2 | disease | C1857100 | AlteredExpression | 0.01 | disgenet |
| Dyssegmental dysplasia | TIMP1 | disease | C1857100 | AlteredExpression | 0.01 | disgenet |
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