* 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 |
INSR | 19p13.2 | 147670 | REa, A, REb | Leprechaunism, 246200 (3) | 246200 | 3 |
INSR | 19p13.2 | 147670 | REa, A, REb | Rabson-Mendenhall syndrome, 262190 (3) | 262190 | 3 |
INSR | 19p13.2 | 147670 | REa, A, REb | Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3) | 610549 | 3 |
INSR | 19p13.2 | 147670 | REa, A, REb | Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) | 609968 | 3 |