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 |
| PPM1D | 17q23.2 | 605100 | A, REc | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3) | 617450 | 3 |
| PPM1D | 17q23.2 | 605100 | A, REc | Breast cancer, somatic, 114480 (3) | 114480 | 3 |