1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
| 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 |