| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Metachondromatosis | PTPN11 | disease | C0410530 | GeneticVariation | 0.75 | orphanet , disgenet |
| Metachondromatosis | PTPN11 | disease | C0410530 | Biomarker | 0.75 | orphanet , disgenet |
| Metachondromatosis | PTPN11 | disease | C0410530 | CausalMutation | 0.75 | orphanet , disgenet |
| Metachondromatosis | PTPN11 | disease | C0410530 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Metachondromatosis | DPEP1 | disease | C0410530 | Biomarker | 0.01 | disgenet |
| Metachondromatosis | EXT2 | disease | C0410530 | Biomarker | 0.01 | disgenet |
| Metachondromatosis | IHH | disease | C0410530 | AlteredExpression | 0.01 | disgenet |
| Metachondromatosis | EXT1 | disease | C0410530 | AlteredExpression | 0.01 | disgenet |
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