| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| LEOPARD Syndromes | PTPN11 | disease | C0175704 | AlteredExpression | 1 | orphanet , disgenet |
| LEOPARD Syndromes | PTPN11 | disease | C0175704 | Biomarker | 1 | orphanet , disgenet |
| LEOPARD Syndromes | PTPN11 | disease | C0175704 | GeneticVariation | 1 | orphanet , disgenet |
| LEOPARD Syndromes | PTPN11 | disease | C0175704 | CausalMutation | 1 | orphanet , disgenet |
| LEOPARD Syndromes | RAF1 | disease | C0175704 | CausalMutation | 0.77 | orphanet , disgenet |
| LEOPARD Syndromes | RAF1 | disease | C0175704 | GeneticVariation | 0.77 | orphanet , disgenet |
| LEOPARD Syndromes | RAF1 | disease | C0175704 | Biomarker | 0.77 | orphanet , disgenet |
| LEOPARD Syndromes | BRAF | disease | C0175704 | CausalMutation | 0.65 | orphanet , disgenet |
| LEOPARD Syndromes | BRAF | disease | C0175704 | GeneticVariation | 0.65 | orphanet , disgenet |
| LEOPARD Syndromes | BRAF | disease | C0175704 | Biomarker | 0.65 | orphanet , disgenet |
| LEOPARD Syndromes | MAP2K1 | disease | C0175704 | Biomarker | 0.52 | disgenet |
| LEOPARD Syndromes | MAP2K1 | disease | C0175704 | GeneticVariation | 0.52 | disgenet |
| LEOPARD Syndromes | SOS1 | disease | C0175704 | Biomarker | 0.33 | disgenet |
| LEOPARD Syndromes | SOS1 | disease | C0175704 | GeneticVariation | 0.33 | disgenet |
| LEOPARD Syndromes | KRAS | disease | C0175704 | GeneticVariation | 0.31 | disgenet |
| LEOPARD Syndromes | SHOC2 | disease | C0175704 | Biomarker | 0.31 | disgenet |
| LEOPARD Syndromes | EPHA2 | disease | C0175704 | GeneticVariation | 0.31 | disgenet |
| LEOPARD Syndromes | KRAS | disease | C0175704 | Biomarker | 0.31 | disgenet |
| LEOPARD Syndromes | PTEN | disease | C0175704 | GeneticVariation | 0.31 | disgenet |
| LEOPARD Syndromes | SHOC2 | disease | C0175704 | GeneticVariation | 0.31 | disgenet |
| LEOPARD Syndromes | HRAS | disease | C0175704 | GeneticVariation | 0.31 | disgenet |
| LEOPARD Syndromes | PTEN | disease | C0175704 | Biomarker | 0.31 | disgenet |
| LEOPARD Syndromes | EPHA2 | disease | C0175704 | Biomarker | 0.31 | disgenet |
| LEOPARD Syndromes | HRAS | disease | C0175704 | Biomarker | 0.31 | disgenet |
| LEOPARD Syndromes | LZTR1 | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | RIT1 | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | SOS2 | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | PPP1CB | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | RRAS | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | A2ML1 | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | PPP1R13L | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | RASA2 | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | MAP2K2 | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | MRAS | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | NRAS | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | RASA1 | disease | C0175704 | Biomarker | 0.3 | disgenet |
| LEOPARD Syndromes | AKT1 | disease | C0175704 | Biomarker | 0.03 | disgenet |
| LEOPARD Syndromes | AKT1 | disease | C0175704 | GeneticVariation | 0.03 | disgenet |
| LEOPARD Syndromes | NF1 | disease | C0175704 | GeneticVariation | 0.02 | disgenet |
| LEOPARD Syndromes | NF1 | disease | C0175704 | Biomarker | 0.02 | disgenet |
| LEOPARD Syndromes | MAPK3 | disease | C0175704 | AlteredExpression | 0.02 | disgenet |
| LEOPARD Syndromes | MTOR | disease | C0175704 | GeneticVariation | 0.02 | disgenet |
| LEOPARD Syndromes | MAPK3 | disease | C0175704 | Biomarker | 0.02 | disgenet |
| LEOPARD Syndromes | PIK3CG | disease | C0175704 | Biomarker | 0.02 | disgenet |
| LEOPARD Syndromes | MTOR | disease | C0175704 | AlteredExpression | 0.02 | disgenet |
| LEOPARD Syndromes | FBN1 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | IRS1 | disease | C0175704 | Biomarker | 0.01 | disgenet |
| LEOPARD Syndromes | ZHX2 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | GAB1 | disease | C0175704 | Biomarker | 0.01 | disgenet |
| LEOPARD Syndromes | SASH1 | disease | C0175704 | Biomarker | 0.01 | disgenet |
| LEOPARD Syndromes | TSC1 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | MAPK1 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | PIK3CB | disease | C0175704 | Biomarker | 0.01 | disgenet |
| LEOPARD Syndromes | ACP1 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | EGF | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | MAP2K7 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | NFATC4 | disease | C0175704 | Biomarker | 0.01 | disgenet |
| LEOPARD Syndromes | PIK3CD | disease | C0175704 | Biomarker | 0.01 | disgenet |
| LEOPARD Syndromes | FXN | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | DSP | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | EPHB2 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | CDC73 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | SLC12A3 | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | TESC | disease | C0175704 | GeneticVariation | 0.01 | disgenet |
| LEOPARD Syndromes | PIK3CA | disease | C0175704 | Biomarker | 0.01 | disgenet |
| LEOPARD Syndromes | LMNA | NA | C0175704 | NA | NA | orphanet |
| click here to return to the previous page | ||||||