| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Enchondromatoses | IDH1 | disease | C0014084 | Biomarker | 0.79 | orphanet , disgenet |
| Enchondromatoses | IDH1 | disease | C0014084 | GeneticVariation | 0.79 | orphanet , disgenet |
| Enchondromatoses | IDH1 | disease | C0014084 | SomaticCausalMutation | 0.79 | orphanet , disgenet |
| Enchondromatoses | IDH2 | disease | C0014084 | Biomarker | 0.77 | orphanet , disgenet |
| Enchondromatoses | IDH2 | disease | C0014084 | GeneticVariation | 0.77 | orphanet , disgenet |
| Enchondromatoses | IDH2 | disease | C0014084 | SomaticCausalMutation | 0.77 | orphanet , disgenet |
| Enchondromatoses | PTH1R | disease | C0014084 | GermlineCausalMutation | 0.65 | orphanet , disgenet |
| Enchondromatoses | PTH1R | disease | C0014084 | Biomarker | 0.65 | orphanet , disgenet |
| Enchondromatoses | PTH1R | disease | C0014084 | AlteredExpression | 0.65 | orphanet , disgenet |
| Enchondromatoses | PTH1R | disease | C0014084 | GeneticVariation | 0.65 | orphanet , disgenet |
| Enchondromatoses | PTPN11 | disease | C0014084 | GeneticVariation | 0.41 | disgenet |
| Enchondromatoses | PTPN11 | disease | C0014084 | Biomarker | 0.41 | disgenet |
| Enchondromatoses | TCOF1 | disease | C0014084 | Biomarker | 0.1 | disgenet |
| Enchondromatoses | COL2A1 | disease | C0014084 | Biomarker | 0.1 | disgenet |
| Enchondromatoses | POLR1C | disease | C0014084 | Biomarker | 0.1 | disgenet |
| Enchondromatoses | POLR1D | disease | C0014084 | Biomarker | 0.1 | disgenet |
| Enchondromatoses | EXT1 | disease | C0014084 | GeneticVariation | 0.03 | disgenet |
| Enchondromatoses | EXT1 | disease | C0014084 | Biomarker | 0.03 | disgenet |
| Enchondromatoses | PTHLH | disease | C0014084 | Biomarker | 0.02 | disgenet |
| Enchondromatoses | HIF1A | disease | C0014084 | Biomarker | 0.02 | disgenet |
| Enchondromatoses | ACVR2A | disease | C0014084 | AlteredExpression | 0.01 | disgenet |
| Enchondromatoses | PTH | disease | C0014084 | GeneticVariation | 0.01 | disgenet |
| Enchondromatoses | GNAS | disease | C0014084 | Biomarker | 0.01 | disgenet |
| Enchondromatoses | CTNNB1 | disease | C0014084 | Biomarker | 0.01 | disgenet |
| Enchondromatoses | VEGFA | disease | C0014084 | Biomarker | 0.01 | disgenet |
| Enchondromatoses | ANGPTL4 | disease | C0014084 | Biomarker | 0.01 | disgenet |
| Enchondromatoses | FGFR3 | disease | C0014084 | GeneticVariation | 0.01 | disgenet |
| Enchondromatoses | EXT2 | disease | C0014084 | GeneticVariation | 0.01 | disgenet |
| Enchondromatoses | ITGB3 | disease | C0014084 | Biomarker | 0.01 | disgenet |
| Enchondromatoses | STK11 | disease | C0014084 | GeneticVariation | 0.01 | disgenet |
| Enchondromatoses | EDIL3 | disease | C0014084 | GeneticVariation | 0.01 | disgenet |
| Enchondromatoses | HHAT | NA | C0014084 | NA | NA | orphanet |
| Enchondromatoses | HDAC6 | NA | C0014084 | NA | NA | orphanet |
| Enchondromatoses | MMP13 | NA | C0014084 | NA | NA | orphanet |
| Enchondromatoses | COL10A1 | NA | C0014084 | NA | NA | orphanet |
| Enchondromatoses | QRICH1 | NA | C0014084 | NA | NA | orphanet |
| Enchondromatoses | BPNT2 | NA | C0014084 | NA | NA | orphanet |
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