GHR, growth hormone receptor, 2690

N. diseases: 10; N. variants: 31
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Short Stature, Idiopathic, Autosomal
0.720 Biomarker disease GENOMICS_ENGLAND
Short Stature, Idiopathic, Autosomal
0.720 GermlineCausalMutation disease ORPHANET
Short Stature, Idiopathic, Autosomal
0.720 Biomarker disease CTD_human
Short Stature, Idiopathic, Autosomal
0.720 Biomarker disease GENOMICS_ENGLAND
Short Stature, Idiopathic, Autosomal
0.720 Biomarker disease GENOMICS_ENGLAND
Short Stature, Idiopathic, Autosomal
0.720 Biomarker disease GENOMICS_ENGLAND
Short Stature, Idiopathic, Autosomal
0.720 GeneticVariation disease UNIPROT Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. 7565946 1995