| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Chondrodysplasia punctata, brachytelephalangic | ARSL | disease | C1844853 | GeneticVariation | 0.63 | orphanet , disgenet |
| Chondrodysplasia punctata, brachytelephalangic | ARSL | disease | C1844853 | Biomarker | 0.63 | orphanet , disgenet |
| Chondrodysplasia punctata, brachytelephalangic | ARSL | disease | C1844853 | CausalMutation | 0.63 | orphanet , disgenet |
| Chondrodysplasia punctata, brachytelephalangic | NSDHL | disease | C1844853 | Biomarker | 0.2 | disgenet |
| Chondrodysplasia punctata, brachytelephalangic | EBP | disease | C1844853 | Biomarker | 0.2 | disgenet |
| Chondrodysplasia punctata, brachytelephalangic | PABX | disease | C1844853 | GeneticVariation | 0.03 | disgenet |
| Chondrodysplasia punctata, brachytelephalangic | BGLAP | disease | C1844853 | Biomarker | 0.01 | disgenet |
| Chondrodysplasia punctata, brachytelephalangic | HTC2 | disease | C1844853 | GeneticVariation | 0.01 | disgenet |
| Chondrodysplasia punctata, brachytelephalangic | STS | disease | C1844853 | Biomarker | 0.01 | disgenet |
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