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 |
| 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 |