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 |
| PDGFRB | 5q32 | 173410 | REa, A, REn | Myeloproliferative disorder with eosinophilia, 131440 (4) | 131440 | 4 |
| PDGFRB | 5q32 | 173410 | REa, A, REn | Basal ganglia calcification, idiopathic, 4, 615007 (3) | 615007 | 3 |
| PDGFRB | 5q32 | 173410 | REa, A, REn | Myofibromatosis, infantile, 1, 228550 (3) | 228550 | 3 |
| PDGFRB | 5q32 | 173410 | REa, A, REn | Premature aging syndrome, Penttinen type, 601812 (3) | 601812 | 3 |
| PDGFRB | 5q32 | 173410 | REa, A, REn | Kosaki overgrowth syndrome, 616592 (3) | 616592 | 3 |