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 |
| PTPN22 | 1p13.2 | 600716 | A | {Diabetes, type 1, susceptibility to}, 222100 (3) | 222100 | 3 |
| PTPN22 | 1p13.2 | 600716 | A | {Rheumatoid arthritis, susceptibility to}, 180300 (3) | 180300 | 3 |
| PTPN22 | 1p13.2 | 600716 | A | {Systemic lupus erythematosus susceptibility to}, 152700 (3) | 152700 | 3 |