rs121917883, GHSR

N. diseases: 4
Disease: Short Stature, Idiopathic, Autosomal ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Short Stature, Idiopathic, Autosomal
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
0.800 GeneticVariation UNIPROT Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. 19789204 2009
Short Stature, Idiopathic, Autosomal
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
0.800 GeneticVariation UNIPROT Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. 16511605 2006
Short Stature, Idiopathic, Autosomal
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
0.800 CausalMutation CLINVAR