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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE These podocytes lose expression of the IR as a direct consequence of prolonged exposure to high insulin concentrations, which causes an increase in IR protein degradation via a proteasome-dependent and bafilomycin-sensitive pathway. 28852804 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia. 2687060 1989
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE We report on a 13-year-old girl with Donohue syndrome like dysmorphism, hyperinsulinism and prolonged survival due to two novel INSR missense mutations within the insulin binding domain. 18411068 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE Recently, we reported (Huang Z., Bodkin N.L., Ortmeyer H.K., Hansen B.C., Shuldiner A. R., 1994, J Clin Invest, 94:1289-1296) that an increase in the exon 11- (i.e. lacking exon 11) (type A) IR messenger RNA (mRNA) variant in muscle is associated with hyperinsulinemia, an early risk factor for noninsulin-dependent diabetes mellitus (NIDDM), in the spontaneously obese, diabetic rhesus monkey. 8636366 1996
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE We concluded that vitamin D3 ameliorated insulin resistance and hyperinsulinemia in diabetic rat model received HFW through reduction of IDE and activation of insulin receptor phosphorylation. 27930980 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE Allelic variants of genes encoding components of the insulin pathway, including insulin (INS), insulin receptor (INSR), and insulin receptor substrate-1 and insulin receptor substrate-2 (IRS1 and IRS2) have been associated with hyperinsulinemia and insulin resistance and may, therefore, predict susceptibility to colorectal neoplasia. 17416760 2007
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Exposure to high insulin (100 nmol/l for 16 h) caused a significant (p<0.05-0.01) impairment of insulin receptor autophosphorylation, phosphatidyl-inositol-3 kinase activity and glycogen synthesis, but not of PC-1 protein content (114+/-3 vs 102+/-14 ng/mg protein) in HepG2 cells. 10707036 2000
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker 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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE The PA tissue growth seen in such patients is likely to result from severe in vivo hyperinsulinemia activating intact mitogenic signaling pathways emanating from the insulin receptor. 9486982 1998
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease CTD_human Loss of insulin signaling in hepatocytes leads to severe insulin resistance and progressive hepatic dysfunction. 10949030 2000
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
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: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE TRG (50 mg/kg; p.o) lowered serum glucose, fructosamine, insulin, and HOMA-IR index and increased insulin sensitivity in soleus muscle via augmenting insulin receptor autophosphorylation (IR-PH), pT308-Akt, and glucose transporter 4 (GLUT4). 28271502 2017
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Sequencing demonstrated INSR haploinsufficiency accounting for elevated insulin levels and dysglycemia. 19720790 2009
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Recombinant human IGF-I alone or combined with its binding protein (IGFBP-3) provides an alternative therapy as IGF-I receptor shares structural and functional homology with the insulin receptor and recombinant human insulin-like growth factor I (rhIGF-I) therapy could improve glucose disposal by signalling through the IGF-I receptor, whilst reducing the adverse effects of high insulin concentrations. 17785698 2007
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE Additionally, both mRNA expressions and protein levels of insulin increased significantly in the 10 and 100 μg/L exposure groups, while transcription levels of genes encoding insulin receptor substrates decreased significantly in these groups, indicating a possibly decreased insulin sensitivity due to impairment of insulin signaling transduction downstream of insulin receptor. 30218961 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE Increased expression of IR-A during neoplastic transformation of hepatocytes could mediate some of the adverse effects of hyperinsulinemia on HCC. 23633480 2013
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE These data suggest that the INSR polymorphism is associated with hyperinsulinemia, but not with insulin resistance, in hypertension. 9240761 1996
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE The data in this paper demonstrate that IR knockdown in primary tumors partially reverses the growth-promoting effects of hyperinsulinemia as well as highlighting the importance of the insulin receptor signaling pathway in cancer progression, and more specifically in epithelial-mesenchymal transition. 27435064 2016
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE These data suggest that the insulin receptor gene may contribute to insulin resistance in hypertensive patients with hyperinsulinemia. 7584931 1995
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 AlteredExpression disease BEFREE Decreased IGF-IR content was accompanied by a reduction of IGF-IR/IR receptor hybrids, and therefore, increased levels of IR/IR homodimers probably explain increased insulin-stimulated receptor autophosphorylation and Akt phosphorylation. 16569742 2006
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE In addition, IGF1R down-regulation increased insulin binding consistent with the formation of an increased number of holo-IR on the cell surface. 17210722 2007
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Because the nature and location of the insertion did not suggest a role in insulin-receptor function, the association of this RFLP with NIDDM and hyperinsulinemia was reexamined in a small sample of Whites. 2566545 1989
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 Biomarker disease BEFREE Interestingly 48 h of fasting, leading to a decreased plasmatic insulin, increased the number of IR in the OM. 18752648 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE A 29-year-old woman developed an autoantibody to the insulin receptor (type B insulin resistance), causing extreme insulin resistance and hyperinsulinemia. 27911591 2017