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
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GermlineCausalMutation disease ORPHANET We studied 22 patients with LS from Ecuador, Israel (of Moroccan origin), Brazil, Chile, and the United States (of Mexican origin) who were homozygous for the E180splice mutation and compared them to control individuals for markers surrounding the GHR, intragenic polymorphisms, and Y-chromosome STR. 24664892 2014
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. 14678285 2004
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation. 10870033 2000
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GermlineCausalMutation disease ORPHANET Lessons from the genetics of laron syndrome. 18406284 1998
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. 9467570 1998
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. 9851797 1998
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue. 9661642 1998
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT Abnormalities in the GHR produce an autosomal recessive form of GH resistance, the Laron syndrome, characterized by growth failure and the clinical appearance of severe GH deficiency despite elevated circulating GH levels. 9024232 1997
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT To test this hypothesis directly, we investigated patients displaying the classic features of Laron syndrome (familial GH resistance characterized by severe dwarfism and metabolic dysfunction), except for the presence of normal binding activity of the plasma GH-binding protein, a molecule that derives from the exoplasmic-coding domain of the GHR gene. 8137822 1994
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. 8504296 1993
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. 8450064 1993
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 GeneticVariation disease UNIPROT We conclude that Laron dwarfism is due to abnormalities in the gene for GH receptor, which may differ from family to family. 2779634 1989
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 Biomarker disease CTD_human
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
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
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.510 Biomarker disease CTD_human
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.510 Biomarker disease GENOMICS_ENGLAND