LEPR, leptin receptor, 3953

N. diseases: 300; N. variants: 31
Disease: Somatotropin deficiency ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.130 GeneticVariation disease BEFREE CONCLUSIONS Gene polymorphism of leptin (loci rs7799039) and leptin receptor (loci rs1137101) are correlated with GHD susceptibility. 26915772 2016
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.130 GeneticVariation disease BEFREE These results suggest LEPR Q223R SNP (rs1137101) is associated with outcomes of GH replacement therapy in ISS and GHD patients. 23009903 2012
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.130 GeneticVariation disease BEFREE In conclusion, the GHD group carried a significantly higher frequency of the LEPR [G/A or A/A] genotype and of the A allele (LEPR223R). 21207066 2011