GHR, growth hormone receptor, 2690

N. diseases: 10; N. variants: 31
Disease: Short Stature, Idiopathic, Autosomal ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
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
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		0.720 GermlineCausalMutation disease ORPHANET
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		0.720 Biomarker disease CTD_human
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1858656
Disease: Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, Autosomal 		0.720 Biomarker disease GENOMICS_ENGLAND