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: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
0.010 GeneticVariation group BEFREE Patients with mutations of the insulin receptor gene (INSR) have extreme insulin resistance and are at risk for early morbidity and mortality from diabetes complications. 31588494 2020
CUI: C0011311
Disease: Dengue Fever
Dengue Fever
0.010 Biomarker disease BEFREE Furthermore, siRNA-mediated knockdown and treatment with a small-molecule inhibitor of the insulin receptor kinase concur to assign a crucial role for this enzyme in the replication of dengue and Zika viruses in cultured mosquito cells. 30650347 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections
0.010 Biomarker group BEFREE Release of Soluble Insulin Receptor From Neurons by Cerebrospinal Fluid From Patients With Neurocognitive Dysfunction and HIV Infection. 30972014 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.010 Biomarker disease BEFREE Testosterone improves metabolic CV risk factors including body composition, insulin resistance, and hypercholesterolemia by improving both glucose utilization and lipid metabolism by a combination of genomic and nongenomic actions of glucose uptake and utilization expression of the insulin receptor, glucose transporters, and expression on regulatory enzymes of key metabolic pathways. 29442075 2019
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
0.010 GeneticVariation phenotype BEFREE Across multiple samples (n = 4502), the biologically informed, mesocorticolimbic or hippocampal specific insulin receptor polygenic scores were calculated, and their ability to predict impulsivity, risk for addiction, cognitive performance and presence of Alzheimer's disease was investigated. 30922963 2019
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
0.010 AlteredExpression disease BEFREE Vitamin D deficiency itself also led to decreased LC3 II levels in the liver and decreased insulin receptor staining in the ovaries. 31509973 2019
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 GeneticVariation phenotype BEFREE Across multiple samples (n = 4502), the biologically informed, mesocorticolimbic or hippocampal specific insulin receptor polygenic scores were calculated, and their ability to predict impulsivity, risk for addiction, cognitive performance and presence of Alzheimer's disease was investigated. 30922963 2019
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
0.010 Biomarker disease BEFREE Insulin receptor-related receptor (IRR) is a receptor tyrosine kinase of the insulin receptor family and functions as an extracellular alkali sensor that controls metabolic alkalosis in the regulation of the acid-base balance. 31615897 2019
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
0.010 Biomarker disease BEFREE Furthermore, siRNA-mediated knockdown and treatment with a small-molecule inhibitor of the insulin receptor kinase concur to assign a crucial role for this enzyme in the replication of dengue and Zika viruses in cultured mosquito cells. 30650347 2019
CUI: C0342311
Disease: Neuroglycopenia
Neuroglycopenia
0.010 Biomarker disease BEFREE GLUT4-Cre-driven insulin receptor knockout mice with a combined ablation of IR in Glut4-expressing tissues showed increased counterregulatory response to either 2-deoxyglucose-induced neuroglycopenia or systemic insulin-induced hypoglycemia. 31199472 2019
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency
0.010 Biomarker disease BEFREE These changes were not due to the C5 deficiency alone as other C5-deficient models did not recapitulate the INSR processing defect; rather, in addition to the mutation in the <i>C5</i> gene, whole genome sequencing revealed an intronic 31-bp deletion in the <i>Insr</i> gene in the B10.D2-<i>Hc<sup>0</sup> H2<sup>d</sup> H2</i>-<i>T18<sup>c</sup></i>/oSnJ model. 31084499 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
0.010 GeneticVariation phenotype BEFREE Risk of tumor recurrence positively correlated with AS isoform of the INSR gene. 31140152 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.010 Biomarker phenotype BEFREE Several studies identified protein tyrosine phosphatase (PTP)-1B, a member of the PTP superfamily, as a major negative regulator for insulin receptor signaling and a novel molecular player in endothelial dysfunction and cardiovascular disease. 31319588 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.010 Biomarker disease BEFREE Network analysis revealed distinct gene modules enriched in signaling pathways related to stress responses, neuron apoptosis, insulin receptor signaling, mTOR signaling, and nerve growth factor receptor signaling, suggesting potential functional relevance to MDD. 31477685 2019
Adenocarcinoma of the gastroesophageal junction
0.010 GeneticVariation disease BEFREE We identified that TCF7L2 rs290481, INS rs689, and INSR rs1799817 SNPs increased the susceptibility of AEG in different cancer stage subgroups. 31211453 2019
CUI: C1519346
Disease: Skin Carcinogenesis
Skin Carcinogenesis
0.010 Biomarker disease BEFREE In summary, we identified a unique pathway in which IR regulates cytoskeletal assembly, thus affecting skin transformation, opening a new potential target for cancer treatment and prevention.-Weingarten, G., Ben Yaakov, A., Dror, E., Russ, J., Magin, T. M., Kahn, C. R., Wertheimer, E. Insulin receptor plays a central role in skin carcinogenesis by regulating cytoskeleton assembly. 30332298 2019
CUI: C4316789
Disease: Partial lipodystrophy
Partial lipodystrophy
0.010 GeneticVariation disease BEFREE Both patients had partial lipodystrophy and a novel heterozygous missense mutation (Asn<sup>1137</sup> → Lys<sup>1137</sup>) in the insulin receptor gene. 31102683 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE Insulin receptor sensitization restores neocortical excitation/inhibition balance in a mouse model of autism. 29484150 2018
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 Biomarker disease BEFREE The Emerging Role of Insulin Receptor Isoforms in Thyroid Cancer: Clinical Implications and New Perspectives. 30513575 2018
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.010 Biomarker disease BEFREE They also reveal an important reciprocal relationship between IR/IGF-1R and TSH/ErbB signaling in the pathogenesis of thyroid follicular hyperplasia and, possibly, of papillary carcinoma. 30070361 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.010 Biomarker disease BEFREE Depression is associated with uncontrolled diabetes, which indicates a lack of insulin effect, yet the role of the insulin receptor in mediating depression is not clearly established because insulin receptors are not required for glucose entry into the brain. 30278200 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 Biomarker disease BEFREE Depression is associated with uncontrolled diabetes, which indicates a lack of insulin effect, yet the role of the insulin receptor in mediating depression is not clearly established because insulin receptors are not required for glucose entry into the brain. 30278200 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 AlteredExpression disease BEFREE Yangxin Tongmai Formula ameliorates impaired glucose tolerance in children with Graves' disease through upregulation of the insulin receptor levels. 29168473 2018
CUI: C0020175
Disease: Hunger
Hunger
0.010 Biomarker phenotype BEFREE In humans, reduced representation bisulfite sequencing (RRBS) was performed on peripheral samples that were obtained from individuals who were prenatally exposed to the "Dutch Hunger Winter", resulting in two Differentially Methylated Regions (DMRs) in INSR and CPTIA genes that were functionally, biologically and technically validated, and significantly associated with birth weights and LDL cholesterol levels in offspring. 30532646 2018
CUI: C0021400
Disease: Influenza
Influenza
0.010 Biomarker disease BEFREE In a model of severe influenza infection with A/PR8 (H1N1), lack of insulin receptor on T cells curtails antigen-specific immunity to influenza viral antigens. 30174303 2018