GHR, growth hormone receptor, 2690

N. diseases: 247; N. variants: 46
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.050 GeneticVariation disease BEFREE To test this, we investigated whether common genetic variants (microsatellites, SNPs) in regulatory regions of the GHR gene region were associated with the ISS phenotype. 28557176 2017
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.050 GeneticVariation disease BEFREE The growth promotion efficacy of GH therapy differed significantly between ISS patients with and without the d3-GHR allele. 18793346 2009
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.050 GeneticVariation disease BEFREE Heterozygous GH receptor (GHR) mutations were present in <5% of ISS patients and their role in causing growth defects is questionable. 17785695 2007
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.050 GeneticVariation disease BEFREE Heterozygous mutations of the GHR gene are uncommon in Italian ISS patients, who are selected for adequate GH levels. 16213173 2005
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.050 GeneticVariation disease BEFREE Accumulating evidence suggests that GHR gene mutations account for up to 5% of all ISS patients. 9814495 1998