INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease HPO
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE However, her endogenous immunoreactive insulin showed reduced biologic activity during a glucose-clamp study with hyperglycemia and a reduced ability to bind to the insulin receptor and stimulate glucose transport in vitro. 6371526 1984
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia. 2687060 1989
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 AlteredExpression disease BEFREE We investigated two potential mechanisms that might be relevant for the abnormal function of the insulin receptor in NIDDM, i.e. changes in the expression of the receptor isoforms and the effect of hyperglycaemia on insulin receptor tyrosine kinase activity. 7821730 1994
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Together, the data suggest that the regulatory serine or threonine phosphorylation site(s) involved in the inhibitory effect of hyperglycemia are neither located in the C-terminus nor in the juxtamembrane region of the insulin receptor beta subunit. 7867639 1995
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE We conclude that the Met-985 insulin-receptor variant associates with hyperglycemia and represents a risk factor for NIDDM. 8900242 1996
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE (b) Differences in modulation of the insulin receptor signaling cascade are found with TNF-alpha and high glucose: Hyperglycemia-induced insulin receptor inhibition blocks both insulin receptor-dependent tyrosine phosphorylation and dephosphorylation of insulin receptor substrate proteins. 8617880 1996
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE To evaluate whether hyperglycaemia in two lean patients with primary severe insulin resistance due to insulin receptor (IR) mutations and diabetes mellitus could be reduced by supplement of rosiglitazone for 180 days and secondary, to evaluate the effects on plasma NEFA, TG, Apo B, PAI-1 and serum insulin. 11887975 2001
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Humans with congenital absence of the islets of Langerhans and mice rendered null for the insulin receptor rapidly develop severe hyperglycemia and ketoacidosis and, if untreated, die in the early neonatal period. 11443207 2001
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE We tested the hypothesis that impaired insulin receptor signaling in myocytes worsens cardiac remodeling and function following injury, even in the absence of hyperglycemia. 16216265 2005
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Overexpression of the insulin receptor inhibitor PC-1/ENPP1 induces insulin resistance and hyperglycemia. 16278247 2006
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Homozygous or compound heterozygous mutations within the insulin binding domain of the human insulin receptor (INSR) are usually associated with severe impairment of insulin binding leading to Donohue syndrome ("Leprechaunism"), which is characterized by excessive hyperglycemia with hyperinsulinism, pre- and postnatal growth retardation, distinct dysmorphism and early death. 18411068 2008
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease CTD_human Diabetes models by screen for hyperglycemia in phenotype-driven ENU mouse mutagenesis projects. 18056790 2008
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Leptin treatment has shown some success in treating hyperglycemia in patients with insulin receptor gene mutations. 23047930 2013
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 AlteredExpression disease BEFREE Diet-induced obesity (DIO) in mice developed hyperglycemia and insulin resistance, accompanying with a reduction of insulin receptor (INSR) expression. 26179126 2015
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births). 26871809 2016
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 AlteredExpression disease BEFREE Syzygium cumini extract was more efficient than B. forficata in reducing hyperglycaemia, redox disturbances and the changes in mRNA expression of insulin receptor. 28267671 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 AlteredExpression disease BEFREE The expression of the insulin receptor (IR) signaling cascade, including IR, IR substrate, phosphatidylinositol 3-kinase, Akt, and glucose transporter 4, was inhibited both in the skeletal muscle and the liver, which might be a main reason for the hyperglycemia and hyperinsulinemia. 28397090 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Dose-limiting hyperglycemia has been observed for other IGF1R/INSR inhibitors in clinical trials. 28243682 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Type B insulin resistance (IR) is a rare autoimmune disease characterized by the presence of insulin receptor autoantibodies, resulting in a marked IR inducing hyperglycemia. 28262212 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Insulin receptor and insulin receptor substrate-1 (IRS-1) messenger RNA, known stimulate to membrane translocation of Gluts, were both decreased by the HG condition but not by the NG condition. 28624040 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE We recently reported that, targeted deletion of insulin receptor (IR) from proximal tubules (PT) resulted in hyperglycemia in non-obese mice. 27322100 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE We found that multiple cave populations carry a mutation in the insulin receptor that leads to decreased insulin binding in vitro and contributes to hyperglycaemia. 29562229 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 GeneticVariation disease BEFREE We found that mice with deletion of the insulin receptor alone showed not only hyperglycemia but also a 70% decrease in plasma insulin-like growth factor 1 and delayed growth during the first 2 months of life, a 24-fold increase in the soluble leptin receptor and a 19-fold increase in plasma leptin levels. 29300910 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.500 Biomarker disease BEFREE Previously we demonstrated that NEU1 activates the insulin receptor (IR) and that NEU1-deficient CathA<sup>S190A-Neo</sup> mice (hypomorph of the NEU1 activator protein, cathepsin A/CathA) on a high-fat diet (HFD) develop hyperglycaemia and insulin resistance faster than wild-type animals. 29735266 2018