| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Chondrodysplasia Punctata | EBP | disease | C0008445 | GeneticVariation | 0.6 | disgenet |
| Chondrodysplasia Punctata | EBP | disease | C0008445 | Biomarker | 0.6 | disgenet |
| Chondrodysplasia Punctata | ARSL | disease | C0008445 | Biomarker | 0.4 | disgenet |
| Chondrodysplasia Punctata | ARSL | disease | C0008445 | GeneticVariation | 0.4 | disgenet |
| Chondrodysplasia Punctata | PEX7 | disease | C0008445 | Biomarker | 0.21 | disgenet |
| Chondrodysplasia Punctata | AGPS | disease | C0008445 | Biomarker | 0.2 | disgenet |
| Chondrodysplasia Punctata | GNPAT | disease | C0008445 | Biomarker | 0.2 | disgenet |
| Chondrodysplasia Punctata | NSDHL | disease | C0008445 | Biomarker | 0.2 | disgenet |
| Chondrodysplasia Punctata | STS | disease | C0008445 | AlteredExpression | 0.06 | disgenet |
| Chondrodysplasia Punctata | STS | disease | C0008445 | GeneticVariation | 0.06 | disgenet |
| Chondrodysplasia Punctata | PABX | disease | C0008445 | GeneticVariation | 0.03 | disgenet |
| Chondrodysplasia Punctata | CLCN4 | disease | C0008445 | GeneticVariation | 0.01 | disgenet |
| Chondrodysplasia Punctata | DHCR24 | disease | C0008445 | GeneticVariation | 0.01 | disgenet |
| Chondrodysplasia Punctata | SUMF1 | disease | C0008445 | Biomarker | 0.01 | disgenet |
| Chondrodysplasia Punctata | MRX49 | disease | C0008445 | GeneticVariation | 0.01 | disgenet |
| Chondrodysplasia Punctata | NT5E | disease | C0008445 | Biomarker | 0.01 | disgenet |
| Chondrodysplasia Punctata | ARSH | disease | C0008445 | GeneticVariation | 0.01 | disgenet |
| Chondrodysplasia Punctata | CD99 | disease | C0008445 | GeneticVariation | 0.01 | disgenet |
| Chondrodysplasia Punctata | HTC2 | disease | C0008445 | Biomarker | 0.01 | disgenet |
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