1 => Disorder placed on map based on association with a gene; defect unknown
2 => Disorder placed by linkage; no mutation found
3 => Molecular basis known; mutation found in gene
4 => Contiguous gene deletion/duplication syndrome
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| PTPN11 | 12q24.13 | 176876 | A, Fd | Noonan syndrome 1, 163950 (3) | 163950 | 3 |
| PTPN11 | 12q24.13 | 176876 | A, Fd | LEOPARD syndrome 1, 151100 (3) | 151100 | 3 |
| PTPN11 | 12q24.13 | 176876 | A, Fd | Leukemia, juvenile myelomonocytic, somatic, 607785 (3) | 607785 | 3 |
| PTPN11 | 12q24.13 | 176876 | A, Fd | Metachondromatosis, 156250 (3) | 156250 | 3 |