* 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 |
STAT1 | 2q32.2 | 600555 | A | Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3) | 614892 | 3 |
STAT1 | 2q32.2 | 600555 | A | Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3) | 613796 | 3 |
STAT1 | 2q32.2 | 600555 | A | Immunodeficiency 31C, autosomal dominant, 614162 (3) | 614162 | 3 |