| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Metaphyseal chondrodysplasia Schmid type | COL10A1 | disease | C0265289 | GeneticVariation | 0.95 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | COL10A1 | disease | C0265289 | GermlineCausalMutation | 0.95 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | COL10A1 | disease | C0265289 | Biomarker | 0.95 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | COL10A1 | disease | C0265289 | CausalMutation | 0.95 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | NT5DC1 | disease | C0265289 | GeneticVariation | 0.1 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | NT5DC1 | disease | C0265289 | CausalMutation | 0.1 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | MANF | disease | C0265289 | AlteredExpression | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | WLS | disease | C0265289 | GeneticVariation | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | RPPH1 | disease | C0265289 | GeneticVariation | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | MMP13 | disease | C0265289 | Biomarker | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | ABCC1 | disease | C0265289 | GeneticVariation | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | RMRP | disease | C0265289 | Biomarker | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | MLYCD | disease | C0265289 | GeneticVariation | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | MARCKSL1 | disease | C0265289 | GeneticVariation | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | RNASEH1 | disease | C0265289 | GeneticVariation | 0.01 | disgenet |
| Metaphyseal chondrodysplasia Schmid type | MUC1 | disease | C0265289 | GeneticVariation | 0.01 | disgenet |
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