LEPR, leptin receptor, 3953

N. diseases: 416; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 GeneticVariation disease BEFREE A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients. 23009903 2012
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 Biomarker disease HPO