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 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Cowden syndrome 1, 158350 (3) | 158350 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Lhermitte-Duclos syndrome, 158350 (3) | 158350 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Bannayan-Riley-Ruvalcaba syndrome, 153480 (3) | 153480 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | {Meningioma}, 607174 (3) | 607174 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | {Glioma susceptibility 2}, 613028 (3) | 613028 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | Macrocephaly/autism syndrome, 605309 (3) | 605309 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | PTEN hamartoma tumor syndrome (3) | NA | NA |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | VATER association with macrocephaly and ventriculomegaly, 276950 (3) | 276950 | 3 |
| PTEN | 10q23.31 | 601728 | REc, REa, A, Ch | {Prostate cancer, somatic}, 176807 (3) | 176807 | 3 |