| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Jansen type metaphyseal chondrodysplasia | PTH1R | disease | C0265295 | GermlineCausalMutation | 0.71 | disgenet |
| Jansen type metaphyseal chondrodysplasia | PTH1R | disease | C0265295 | CausalMutation | 0.71 | disgenet |
| Jansen type metaphyseal chondrodysplasia | PTH1R | disease | C0265295 | Biomarker | 0.71 | disgenet |
| Jansen type metaphyseal chondrodysplasia | PTH1R | disease | C0265295 | GeneticVariation | 0.71 | disgenet |
| Jansen type metaphyseal chondrodysplasia | PTHLH | disease | C0265295 | AlteredExpression | 0.02 | disgenet |
| Jansen type metaphyseal chondrodysplasia | PTH | disease | C0265295 | GeneticVariation | 0.02 | disgenet |
| Jansen type metaphyseal chondrodysplasia | PTH | disease | C0265295 | AlteredExpression | 0.02 | disgenet |
| Jansen type metaphyseal chondrodysplasia | PTHLH | disease | C0265295 | Biomarker | 0.02 | disgenet |
| Jansen type metaphyseal chondrodysplasia | TBPL1 | disease | C0265295 | Biomarker | 0.01 | disgenet |
| Jansen type metaphyseal chondrodysplasia | TYRP1 | disease | C0265295 | Biomarker | 0.01 | disgenet |
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