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: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE The association of INSR (INSulin Receptor gene) variants (rs2059807 and rs1799817) with PCOS was established through genome-wide association studies, yet requires validation for the Indian population. 31837364 2020
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.200 GeneticVariation disease BEFREE Furthermore, a Japanese boy with insulin resistance and acanthosis nigricans was found to be heterozygous for a mutation of the insulin receptor gene that resulted in the replacement of glycine-996 with valine in the ATP binding site of the receptor. 31827016 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.600 Biomarker disease BEFREE Corrigendum: Involvement of insulin receptor substrates in cognitive impairment and Alzheimer's disease. 31823898 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.180 Biomarker disease BEFREE Corrigendum: Involvement of insulin receptor substrates in cognitive impairment and Alzheimer's disease. 31823898 2020
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.500 GeneticVariation disease BEFREE The increased insulin sensitivity responsiveness in Grb10-silenced myotubes was associated with higher abundance of the insulin receptor. 31794259 2020
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies
0.520 Biomarker group BEFREE Here, we created an insulin resistant SC by deleting both insulin receptor (INSR) and insulin-like growth factor receptor 1 (IGF1R), to determine the role of this signaling pathway in development and response to injury in order to understand SC defects in DN. 31758725 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.300 Biomarker disease BEFREE Gene array analysis of HCC tumour tissue from xenograft mice given IP ascorbate (4.0 g/kg/3 days) identified changes in the transcript levels of 192 genes/ncRNAs involved in insulin receptor signalling, metabolism and mitochondrial respiration. 31754384 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Gene array analysis of HCC tumour tissue from xenograft mice given IP ascorbate (4.0 g/kg/3 days) identified changes in the transcript levels of 192 genes/ncRNAs involved in insulin receptor signalling, metabolism and mitochondrial respiration. 31754384 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Genetic disorders and insulin receptor disorders, environmental factors, lifestyle choices and toxins are key factors that contribute to DM. 31693730 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.100 GeneticVariation disease BEFREE Rabson-Mendenhall/Donohue syndrome is also caused by defects of the insulin receptor gene (INSR), but is more serious than type A IRS. 31677333 2019
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
0.020 GeneticVariation disease BEFREE Rabson-Mendenhall/Donohue syndrome is also caused by defects of the insulin receptor gene (INSR), but is more serious than type A IRS. 31677333 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE This suggests that treatment of adiponectin effectively improves testicular functions by increasing expression of insulin receptor-mediated increased transport of energy substrate (glucose and lactate) and a marked reduction in oxidative stress are the possible mechanism by which adiponectin effectively improves testicular function in T2D mice. 31676315 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.090 GeneticVariation disease BEFREE Although these findings need validation, rotating night shift might increase colorectal cancer risk in women with abnormal insulin receptor pathways. 31666286 2020
Malignant neoplasm of colon and/or rectum
0.070 GeneticVariation disease BEFREE Although these findings need validation, rotating night shift might increase colorectal cancer risk in women with abnormal insulin receptor pathways. 31666286 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Disruption of INSR-coupled activities has been identified in a wide range of insulin resistance-related diseases such as T2DM. 31658625 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: 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: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.400 Biomarker phenotype BEFREE Congenital beta cell-specific IR knockout (βIRKO) mouse studies have demonstrated the development of age-dependent glucose intolerance. 31541682 2020
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion
0.030 Biomarker disease BEFREE Postnatal knockout of beta cell insulin receptor impaired insulin secretion in male mice exposed to high-fat diet stress. 31541682 2020
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.600 Biomarker disease BEFREE Here, we show that microRNA 7 (miR-7), an abundant microRNA in the brain, targets insulin receptor (INSR), insulin receptor substrate 2 (IRS-2), and insulin-degrading enzyme (IDE), key regulators of insulin homeostatic functions in the central nervous system (CNS) and the pathology of AD. 31501273 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.070 Biomarker phenotype BEFREE Previously published work has demonstrated that overexpression of the insulin receptor isoform A (IR-A) might play a role in cancer progression and metastasis. 31480557 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.070 Biomarker phenotype BEFREE Previously published work has demonstrated that overexpression of the insulin receptor isoform A (IR-A) might play a role in cancer progression and metastasis. 31480557 2019