| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Exostoses | EXT2 | phenotype | C1442903 | GeneticVariation | 0.2 | disgenet |
| Exostoses | EXT2 | phenotype | C1442903 | Biomarker | 0.2 | disgenet |
| Exostoses | PTPN11 | phenotype | C1442903 | Biomarker | 0.12 | disgenet |
| Exostoses | AKT1 | phenotype | C1442903 | GeneticVariation | 0.11 | disgenet |
| Exostoses | AKT1 | phenotype | C1442903 | Biomarker | 0.11 | disgenet |
| Exostoses | LMX1B | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | EXT1 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | EXT1 | phenotype | C1442903 | GeneticVariation | 0.1 | disgenet |
| Exostoses | SHOX | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | B3GALT6 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | RAD21 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | COL11A2 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | ACAN | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | IDH1 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | ALX4 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | EXOC6B | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | PHF21A | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | ATP7A | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | PTEN | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | COL2A1 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | IDH2 | phenotype | C1442903 | Biomarker | 0.1 | disgenet |
| Exostoses | TRPS1 | phenotype | C1442903 | GeneticVariation | 0.02 | disgenet |
| Exostoses | SPG7 | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | PRKAR1A | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | HSPG2 | phenotype | C1442903 | Biomarker | 0.01 | disgenet |
| Exostoses | TCF7L2 | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | TRIM13 | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | COL4A5 | phenotype | C1442903 | Biomarker | 0.01 | disgenet |
| Exostoses | CXADR | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | NR1I3 | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | CXADRP1 | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | LRP5 | phenotype | C1442903 | Biomarker | 0.01 | disgenet |
| Exostoses | KAT6B | phenotype | C1442903 | GeneticVariation | 0.01 | disgenet |
| Exostoses | CASR | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | ARR3 | phenotype | C1442903 | AlteredExpression | 0.01 | disgenet |
| Exostoses | CD59 | phenotype | C1442903 | Biomarker | 0.01 | disgenet |
| Exostoses | COL12A1 | phenotype | C1442903 | Biomarker | 0.01 | disgenet |
| Exostoses | DCN | phenotype | C1442903 | Biomarker | 0.01 | disgenet |
| Exostoses | HPSE | phenotype | C1442903 | GeneticVariation | 0.01 | disgenet |
| Exostoses | EXTL3 | phenotype | C1442903 | Biomarker | 0.01 | disgenet |
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