| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Chondrodysplasia Punctata, Rhizomelic | PEX7 | disease | C0282529 | AlteredExpression | 0.6 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | PEX7 | disease | C0282529 | GeneticVariation | 0.6 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | PEX7 | disease | C0282529 | Biomarker | 0.6 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | GNPAT | disease | C0282529 | GeneticVariation | 0.34 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | GNPAT | disease | C0282529 | Biomarker | 0.34 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | AGPS | disease | C0282529 | Biomarker | 0.33 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | AGPS | disease | C0282529 | GeneticVariation | 0.33 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | PEX5 | disease | C0282529 | GeneticVariation | 0.11 | orphanet , disgenet |
| Chondrodysplasia Punctata, Rhizomelic | PEX5 | disease | C0282529 | CausalMutation | 0.11 | orphanet , disgenet |
| Chondrodysplasia Punctata, Rhizomelic | FAR1 | disease | C0282529 | Biomarker | 0.01 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | FGFR3 | disease | C0282529 | GeneticVariation | 0.01 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | MVK | disease | C0282529 | Biomarker | 0.01 | disgenet |
| Chondrodysplasia Punctata, Rhizomelic | LPA | disease | C0282529 | Biomarker | 0.01 | disgenet |
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