* 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 LocationGene MIM number Mapping MethodPhenotype Phenotype MIM number Phenotype Mapping Key
GHR5p13-p12600946REa, ALaron dwarfism, 262500 (3)2625003
GHR5p13-p12600946REa, A{Hypercholesterolemia, familial, modifier of}, 143890 (3)1438903
GHR5p13-p12600946REa, AIncreased responsiveness to growth hormone, 604271 (3)6042713
GHR5p13-p12600946REa, AGrowth hormone insensitivity, partial, 604271 (3)6042713