* 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 |
GHR | 5p13-p12 | 600946 | REa, A | Laron dwarfism, 262500 (3) | 262500 | 3 |
GHR | 5p13-p12 | 600946 | REa, A | {Hypercholesterolemia, familial, modifier of}, 143890 (3) | 143890 | 3 |
GHR | 5p13-p12 | 600946 | REa, A | Increased responsiveness to growth hormone, 604271 (3) | 604271 | 3 |
GHR | 5p13-p12 | 600946 | REa, A | Growth hormone insensitivity, partial, 604271 (3) | 604271 | 3 |