| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Rhizomelic chondrodysplasia punctata, type 1 | PEX7 | disease | C1859133 | GermlineCausalMutation | 0.98 | orphanet , disgenet |
| Rhizomelic chondrodysplasia punctata, type 1 | PEX7 | disease | C1859133 | GeneticVariation | 0.98 | orphanet , disgenet |
| Rhizomelic chondrodysplasia punctata, type 1 | PEX7 | disease | C1859133 | CausalMutation | 0.98 | orphanet , disgenet |
| Rhizomelic chondrodysplasia punctata, type 1 | PEX7 | disease | C1859133 | Biomarker | 0.98 | orphanet , disgenet |
| Rhizomelic chondrodysplasia punctata, type 1 | PEX5 | disease | C1859133 | GeneticVariation | 0.01 | disgenet |
| Rhizomelic chondrodysplasia punctata, type 1 | HSD17B4 | disease | C1859133 | Biomarker | 0.01 | disgenet |
| Rhizomelic chondrodysplasia punctata, type 1 | PHEX | disease | C1859133 | GeneticVariation | 0.01 | disgenet |
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