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 |
| TGFBR1 | 9q22.33 | 190181 | Psh, A | Loeys-Dietz syndrome 1, 609192 (3) | 609192 | 3 |
| TGFBR1 | 9q22.33 | 190181 | Psh, A | {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3) | 132800 | 3 |