| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Acromesomelic dysplasia | GDF5 | disease | C2930970 | GermlineCausalMutation | 0.81 | orphanet , disgenet |
| Acromesomelic dysplasia | GDF5 | disease | C2930970 | GeneticVariation | 0.81 | orphanet , disgenet |
| Acromesomelic dysplasia | GDF5 | disease | C2930970 | Biomarker | 0.81 | orphanet , disgenet |
| Acromesomelic dysplasia | BMPR1B | disease | C2930970 | GeneticVariation | 0.34 | orphanet , disgenet |
| Acromesomelic dysplasia | BMPR1B | disease | C2930970 | Biomarker | 0.34 | orphanet , disgenet |
| Acromesomelic dysplasia | DMP1 | disease | C2930970 | Biomarker | 0.3 | disgenet |
| Acromesomelic dysplasia | NPR2 | disease | C2930970 | Biomarker | 0.1 | orphanet , disgenet |
| Acromesomelic dysplasia | NPR2 | disease | C2930970 | GeneticVariation | 0.1 | orphanet , disgenet |
| Acromesomelic dysplasia | NPPC | disease | C2930970 | Biomarker | 0.01 | disgenet |
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