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 |
| 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 |