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 |
| PIK3R1 | 5q13.1 | 171833 | REa, A | ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) | 615214 | 3 |
| PIK3R1 | 5q13.1 | 171833 | REa, A | SHORT syndrome, 269880 (3) | 269880 | 3 |
| PIK3R1 | 5q13.1 | 171833 | REa, A | Immunodeficiency 36, 616005 (3) | 616005 | 3 |