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
CUI: C1861901
Disease: Subacute progressive viral hepatitis
Subacute progressive viral hepatitis 		0.100 Biomarker phenotype HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 Biomarker disease BEFREE We have studied the regulation by estradiol of the mannose-6-phosphate (Man-6-P)/insulin-like growth factor-II (IGF-II) receptor concentration in different breast cancer cell lines. 1656243 1991
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 Biomarker disease BEFREE We have studied the regulation by estradiol of the mannose-6-phosphate (Man-6-P)/insulin-like growth factor-II (IGF-II) receptor concentration in different breast cancer cell lines. 1656243 1991
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.240 Biomarker phenotype RGD Changes in IGF-I and -II, IGF binding protein, and IGF receptor transcript abundance after uterine artery ligation. 1408464 1992
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		0.010 Biomarker disease BEFREE Mannose 6-phosphate/insulin-like growth factor II receptor in I-cell disease fibroblasts: increased synthesis and defective regulation of cell surface expression. 1314098 1992
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation disease BEFREE In order to determine whether the Man-6-P/IGF-II receptor gene copy number is altered in breast cancer we analysed specimens of invasive breast carcinoma from 51 patients by Southern blotting. 8286193 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease BEFREE In order to determine whether the Man-6-P/IGF-II receptor gene copy number is altered in breast cancer we analysed specimens of invasive breast carcinoma from 51 patients by Southern blotting. 8286193 1994
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		0.010 GeneticVariation disease BEFREE In order to determine whether the Man-6-P/IGF-II receptor gene copy number is altered in breast cancer we analysed specimens of invasive breast carcinoma from 51 patients by Southern blotting. 8286193 1994
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity. 7493029 1995
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 AlteredExpression disease BEFREE Transforming growth factor-beta receptors and mannose 6-phosphate/insulin-like growth factor-II receptor expression in human hepatocellular carcinoma. 7639583 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Frequent loss of heterozygosity on 6q at the mannose 6-phosphate/insulin-like growth factor II receptor locus in human hepatocellular tumors. 7753549 1995
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE These mutations give rise to truncated receptor protein and significant amino acid substitutions, and provide evidence that the M6P/IGF2R gene functions as a tumour suppressor in human liver carcinogenesis. 7493029 1995
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		0.050 Biomarker disease BEFREE These mutations give rise to truncated receptor protein and significant amino acid substitutions, and provide evidence that the M6P/IGF2R gene functions as a tumour suppressor in human liver carcinogenesis. 7493029 1995
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation disease BEFREE These findings provide evidence that M6P/IGF2r allelic loss is an early event in the etiology of breast cancer, that this gene functions as a tumor suppressor gene in the breast. 8649861 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE These findings provide evidence that M6P/IGF2r allelic loss is an early event in the etiology of breast cancer, that this gene functions as a tumor suppressor gene in the breast. 8649861 1996
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease BEFREE These findings provide evidence that M6P/IGF2r allelic loss is an early event in the etiology of breast cancer, that this gene functions as a tumor suppressor gene in the breast. 8649861 1996
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.040 GeneticVariation group BEFREE Using the polymerase chain reaction, we utilized two polymorphisms in the 3' untranslated region of M6P/IGF2r to screen breast tumors for LOH. 8649861 1996
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE M6P/IGF2R allele loss was also found in cirrhotic tissue of clonal origin adjacent to these dysplastic lesions and HCCs, demonstrating that M6P/IGF2R inactivation occurs early in liver carcinogenesis. 9294214 1997
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 Biomarker disease BEFREE The frequent allelic loss and homozygous deletion of the M6P/ IGF2r gene suggest that the M6P/IGF2r gene functions as a tumor suppressor gene in the development of HCC. 9570384 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation disease BEFREE We have sought to confirm that allelic loss of IGF2R is an early event in the aetiology of breast cancer by screening a group of 'early' lesions for LOH at a polymorphic microsatellite marker within the IGF2R gene using polymerase chain reaction (PCR). 9413941 1997