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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 Biomarker disease HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 CausalMutation disease CGI
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.700 CausalMutation disease CLINVAR
CUI: C0267812
Disease: Micronodular cirrhosis
Micronodular cirrhosis
0.100 Biomarker disease HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
0.100 Biomarker phenotype HPO
Subacute progressive viral hepatitis
0.100 Biomarker phenotype HPO
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.020 GeneticVariation disease BEFREE Mismatch repair deficiency is thought to lead to mutation and inactivation of the genes for type II TGF-beta receptor and insulin-like growth-factor II receptor. 9438104 1998
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.040 GeneticVariation disease BEFREE Insulin-like growth factor II receptor gene-167 genotype increases the risk of oral squamous cell carcinoma in humans. 12543777 2003
Locally Advanced Squamous Cell Carcinoma
0.010 GeneticVariation disease BEFREE M6P/IGF2R loss of heterozygosity in locally advanced squamous cell carcinoma of the head and neck was assessed with six different gene-specific nucleotide polymorphisms. 12589712 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE IGF2R, with multiple functions in both normal growth and cancer, was investigated here as a possible USF target in both nontumorigenic and tumorigenic breast cell lines. 12857727 2003
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE IGF2R, with multiple functions in both normal growth and cancer, was investigated here as a possible USF target in both nontumorigenic and tumorigenic breast cell lines. 12857727 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 AlteredExpression disease BEFREE IGF2R promoter-driven expression was USF-independent in both MCF-7 and MDA-MB-231 breast cancer cell lines, suggesting that a defect in USF function may contribute to down-regulation of IGF2R expression in cancer cells. 12857727 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 AlteredExpression disease BEFREE IGF2R promoter-driven expression was USF-independent in both MCF-7 and MDA-MB-231 breast cancer cell lines, suggesting that a defect in USF function may contribute to down-regulation of IGF2R expression in cancer cells. 12857727 2003
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.010 Biomarker disease BEFREE Insulin-like growth factor II receptor-mediated intracellular retention of cathepsin B is essential for transformation of endothelial cells by Kaposi's sarcoma-associated herpesvirus. 17507477 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE M6P/IGF2R was found to be polymorphic in 73.3% (22/30) of the patients, and of these patients, 50.0% (11/22) had tumors showing LOH in M6P/IGF2R. 18322954 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE IGF2R has been proposed to be a tumor suppressor gene given its antagonist role on cellular growth and evidence of loss of heterozygosity in several cancers, including breast cancer. 19435860 2009
Delirium, Dementia, Amnestic, Cognitive Disorders
0.010 Biomarker group BEFREE Insulin-like growth factor 2 receptor is an IFNgamma-inducible microglial protein that facilitates intracellular HIV replication: implications for HIV-induced neurocognitive disorders. 20889566 2010
CUI: C4041080
Disease: Neurocognitive Disorders
Neurocognitive Disorders
0.010 Biomarker group BEFREE Insulin-like growth factor 2 receptor is an IFNgamma-inducible microglial protein that facilitates intracellular HIV replication: implications for HIV-induced neurocognitive disorders. 20889566 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.030 GeneticVariation phenotype BEFREE IGF2R genetic polymorphism may be associated with decreased function of IGF2 receptor there by contributing to the advancement and distant metastasis of localized oral cancer. 21347719 2012
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.020 GeneticVariation group BEFREE IGF2R genetic polymorphism may be associated with decreased function of IGF2 receptor there by contributing to the advancement and distant metastasis of localized oral cancer. 21347719 2012
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.020 GeneticVariation disease BEFREE IGF2R genetic polymorphism may be associated with decreased function of IGF2 receptor there by contributing to the advancement and distant metastasis of localized oral cancer. 21347719 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE IGF2R was overexpressed significantly more frequently in HR negative tumors (p = 0.001) and had an inverse correlation with all other biomarkers. 24637962 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE IGF2R inhibition by si-RNA technique in NSCLC cell lines increased the proliferation, migration and invasion abilities, but reduced the apoptosis rate. 25402559 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE M6P/IGF2R is a multifunctional receptor involved in protein sorting, internalization, and degradation, being considered a tumor suppressor. 29318541 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.240 Biomarker phenotype BEFREE IGF2R expression was significantly decreased in placentas from pregnancies complicated by idiopathic FGR (P < 0.05 versus control). siRNA-mediated IGF2R knockdown in term placental explants and the trophoblast cell line BeWo resulted in altered expression of homeobox gene transcription factors, including increased expression of distal-less homeobox gene 5 (DLX5), and decreased expression of H2.0-Like Homeobox 1 (HLX) (P < 0.05 versus control). 31418778 2019