| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Rhizomelic chondrodysplasia punctata, type 3 | AGPS | disease | C1838612 | GermlineCausalMutation | 0.9 | orphanet , disgenet |
| Rhizomelic chondrodysplasia punctata, type 3 | AGPS | disease | C1838612 | Biomarker | 0.9 | orphanet , disgenet |
| Rhizomelic chondrodysplasia punctata, type 3 | AGPS | disease | C1838612 | CausalMutation | 0.9 | orphanet , disgenet |
| Rhizomelic chondrodysplasia punctata, type 3 | AGPS | disease | C1838612 | GeneticVariation | 0.9 | orphanet , disgenet |
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