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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker disease CTD_human Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP. 17547689 2007
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.300 Biomarker disease CTD_human Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study. 16214533 2005
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.310 Biomarker group CTD_human Haplotype-based analysis of common variation in the growth hormone receptor gene and prostate cancer risk. 17220348 2007
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.340 Biomarker disease CTD_human These results suggest that whereas genetic variation in the GHR gene does not seem to play a major role in prostate cancer etiology, one haplotype in the 3' region may be potentially relevant to cases with later onset of prostate cancer. 17220348 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.500 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.500 Biomarker disease CTD_human Gene expression profiles of hepatic cell-type specific marker genes in progression of liver fibrosis. 17072980 2006
CUI: C3888131
Disease: INCREASED RESPONSIVENESS TO GROWTH HORMONE
INCREASED RESPONSIVENESS TO GROWTH HORMONE 		0.500 GermlineCausalMutation phenotype ORPHANET
CUI: C3888131
Disease: INCREASED RESPONSIVENESS TO GROWTH HORMONE
INCREASED RESPONSIVENESS TO GROWTH HORMONE 		0.500 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3888131
Disease: INCREASED RESPONSIVENESS TO GROWTH HORMONE
INCREASED RESPONSIVENESS TO GROWTH HORMONE 		0.500 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3888131
Disease: INCREASED RESPONSIVENESS TO GROWTH HORMONE
INCREASED RESPONSIVENESS TO GROWTH HORMONE 		0.500 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3888131
Disease: INCREASED RESPONSIVENESS TO GROWTH HORMONE
INCREASED RESPONSIVENESS TO GROWTH HORMONE 		0.500 Biomarker phenotype 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
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.510 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: 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