Maffucci syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Maffucci syndrome | 163634 | IDH1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| IDH2 | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| Maffucci Syndrome | C0024454 | IDH1 | Causal Pathogenic evidence from ClinVar | 22057234, 22057236 | ClinVar |
| IDH2 | Causal Pathogenic evidence from ClinVar | 22057234, 22057236 | ClinVar | ||
| PTPN11 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 20577567, 21533187 | - |