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 |
| KIT | 4q12 | 164920 | REa, A, H, Ch, H, REn | Piebaldism, 172800 (3) | 172800 | 3 |
| KIT | 4q12 | 164920 | REa, A, H, Ch, H, REn | Gastrointestinal stromal tumor, familial, 606764 (3) | 606764 | 3 |
| KIT | 4q12 | 164920 | REa, A, H, Ch, H, REn | Leukemia, acute myeloid, 601626 (3) | 601626 | 3 |
| KIT | 4q12 | 164920 | REa, A, H, Ch, H, REn | Germ cell tumors, somatic, 273300 (3) | 273300 | 3 |
| KIT | 4q12 | 164920 | REa, A, H, Ch, H, REn | Mastocytosis, cutaneous, 154800 (3) | 154800 | 3 |
| KIT | 4q12 | 164920 | REa, A, H, Ch, H, REn | Mastocytosis, systemic, somatic, 154800 (3) | 154800 | 3 |