* Phenotype mapping Key
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 |
| ZAP70 | 2q11.2 | 176947 | A | Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3) | 617006 | 3 |
| ZAP70 | 2q11.2 | 176947 | A | Immunodeficiency 48, 269840 (3) | 269840 | 3 |