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 |
| JAK2 | 9p24.1 | 147796 | A | Polycythemia vera, somatic, 263300 (3) | 263300 | 3 |
| JAK2 | 9p24.1 | 147796 | A | Thrombocythemia 3, 614521 (3) | 614521 | 3 |
| JAK2 | 9p24.1 | 147796 | A | Myelofibrosis, somatic, 254450 (3) | 254450 | 3 |
| JAK2 | 9p24.1 | 147796 | A | Erythrocytosis, somatic, 133100 (3) | 133100 | 3 |
| JAK2 | 9p24.1 | 147796 | A | Leukemia, acute myeloid, somatic, 601626 (3) | 601626 | 3 |
| JAK2 | 9p24.1 | 147796 | A | {Budd-Chiari syndrome, somatic}, 600880 (3) | 600880 | 3 |