IGF2R, insulin like growth factor 2 receptor, 3482

N. diseases: 166; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Impaired insulin and insulin-like growth factor expression and signaling mechanisms in Alzheimer's disease--is this type 3 diabetes? 15750215 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation group BEFREE These findings suggest that nonsynonymous polymorphisms in M6P/IGF2R may contribute to the risks of EGA and noncardia adenocarcinomas. 19626700 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.200 Biomarker disease RGD These results suggest that alterations of the M6p/Igf2r gene may be involved in the development of lung adenocarcinomas induced by BHP in rats. 12503077 2003
CUI: C0001430
Disease: Adenoma
Adenoma 		0.030 GeneticVariation group BEFREE We examined the association of circulating levels of IGF-1, IGFBP-3 and IGFBP-1, and SNPs in the IGF-1 receptor (IGF1R), IGF-2 receptor (IGF2R), and insulin receptor genes with risk of adenomas in a sample of 410 incident adenoma cases and 1,070 controls from the Case Transdisciplinary Research on Energetics and Cancer (TREC) Colon Adenomas Study. 24194259 2014
CUI: C0001430
Disease: Adenoma
Adenoma 		0.030 GeneticVariation group BEFREE Recently, it was reported in the United States that loss of heterozygosity (LOH) and mutations in exons 27, 28, and 31 of the M6P/IGF2R gene are frequent in hepatocellular carcinomas (HCCs) and adenomas. 10347113 1999
CUI: C0001430
Disease: Adenoma
Adenoma 		0.030 AlteredExpression group LHGDN Expression of insulin-like growth factor-II and its receptor in pediatric and adult adrenocortical tumors. 18611974 2008
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.010 AlteredExpression disease LHGDN Expression of insulin-like growth factor-II and its receptor in pediatric and adult adrenocortical tumors. 18611974 2008
CUI: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		0.010 GeneticVariation disease BEFREE We examined excretion of two lysosomal enzymes and the cation-independent mannose-6-phosphate receptor (CI-MPR) in patients with inherited FS. 18174267 2008
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 GeneticVariation disease BEFREE This hypothesis has been provoked by the identification of loss of heterozygosity (LOH) at the M6P/IGF2R locus on chromosome 6q26 in breast and liver cancer, accompanied by point mutations in the remaining allele. 10791771 2000
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 AlteredExpression disease BEFREE The protein expression level of IGF2, IGF1R and IGF2R was evaluated by immunohistochemistry in 17 human ACCs and the mRNA expression level of IGF1, IGF2, IGF1R, IR isoforms A and B, IGF2R, IGF-Binding-Proteins[IGFBP]-1, 2, 3 and 6 was evaluated by RT-qPCR in 12 samples. 30838516 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.300 Biomarker disease CTD_human Impaired insulin and insulin-like growth factor expression and signaling mechanisms in Alzheimer's disease--is this type 3 diabetes? 15750215 2005
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.300 Biomarker disease CTD_human Impaired insulin and insulin-like growth factor expression and signaling mechanisms in Alzheimer's disease--is this type 3 diabetes? 15750215 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.320 Biomarker disease CTD_human Impaired insulin and insulin-like growth factor expression and signaling mechanisms in Alzheimer's disease--is this type 3 diabetes? 15750215 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.320 Biomarker disease LHGDN Putative association of polymorphism in the mannose 6-phosphate receptor gene with major depression and Alzheimer's disease. 15167696 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.320 Biomarker disease BEFREE Together, these results highlight the potential contribution of IGF-II receptor to AD pathology not only by regulating expression/processing of APP but also by its role in cellular vulnerability. 25939386 2015
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Impaired insulin and insulin-like growth factor expression and signaling mechanisms in Alzheimer's disease--is this type 3 diabetes? 15750215 2005
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.200 Biomarker disease RGD Up-regulation of insulin-like growth factor-II receptor in reactive astrocytes in the spinal cord of amyotrophic lateral sclerosis transgenic rats. 18441505 2008
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.010 Biomarker phenotype BEFREE Fifty patients with angina (65 ± 9 years of age) and 20 age-matched healthy control subjects underwent adenosine stress CMR (1.5- and 3-T) to assess left ventricular function, inducible ischemia (myocardial perfusion reserve index [MPRI]; myocardial blood flow [MBF]), and infarction (late gadolinium enhancement). 29495996 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.010 AlteredExpression disease BEFREE The protein expression level of IGF2, IGF1R and IGF2R was evaluated by immunohistochemistry in 17 human ACCs and the mRNA expression level of IGF1, IGF2, IGF1R, IR isoforms A and B, IGF2R, IGF-Binding-Proteins[IGFBP]-1, 2, 3 and 6 was evaluated by RT-qPCR in 12 samples. 30838516 2019
CUI: C0003838
Disease: Arterial Occlusive Diseases
Arterial Occlusive Diseases 		0.010 Biomarker group BEFREE The following two genes were upregulated in AOD: laminin alpha4 (P <.034) and insulin-like growth factor 2 receptor (P <.049). 11854734 2002
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE However, the role of insulin receptor (IR) isoforms, IGF-IR or insulin-like growth factor-II receptor (IGF-IIR) in VSMCs apoptosis during advanced atherosclerosis remains unclear. 29463262 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE However, the role of insulin receptor (IR) isoforms, IGF-IR or insulin-like growth factor-II receptor (IGF-IIR) in VSMCs apoptosis during advanced atherosclerosis remains unclear. 29463262 2018
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.020 Biomarker disease BEFREE All the epimutations implicated involve a loss of methylation of the maternal allele (demethylation of KvDMR1/KCNQ1OT1 in Beckwith-Wiedemann syndrome (BWS), demethylation of SNRPN in Angelman syndrome and demethylation of DMR2/IGF2R in large offspring syndrome), suggesting that ART impairs the acquisition or maintenance of methylation marks on maternal imprinted genes. 16825435 2006
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.020 Biomarker disease BEFREE An unexpected hypomethylation of the PLAGL1 (6q24) and IGF2R (6q25) genes in the patient with the highest BWS scoring was found. 26505556 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 Biomarker disease BEFREE We characterized the expression of components of the IGF pathway - insulin growth factor receptors (INSR, IGF1R, IGF2R), ligands (INS, IGF1, IGF2), and binding proteins (IGFBP1-7, IGF2BP1-3) - in bladder cancer and its correlation with IGF1R activation, and the anti-proliferative efficacy of an IGF1R kinase inhibitor in this setting. 28882129 2017