IGF2, insulin like growth factor 2, 3481

N. diseases: 604; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE IGF2 is an excellent marker to differentiate ACC from ACAn. 31378849 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE IGF-2 is the most highly expressed gene observed in more than 85% of ACCs. 30069455 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE Multivariate analysis revealed that the expression of SF1, IGF2, and Adipo R1 and R2 receptors was associated with ACC diagnosis. 28672049 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE PELP1/ER/IGF1R/c-Src complex identification as part of E2- and IGF-II-dependent signaling in ACC suggests PELP1 is a novel and more efficient potential target to reduce ACC growth. 29112114 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE Genomic analyses of ACC revealed numerous signal transduction pathway aberrations (insulin-like growth factor 2 overexpression, TP53 mutations and Wnt/β-catenin pathway activation), but so far, there has been no clinically meaningful breakthrough in targeting these genes. 28277340 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE In this study, we investigate whether specific methylation patterns of IGF2 regulatory regions could serve as a valuable biomarker in distinguishing ACCs from ACAs. 27535174 2016
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE Finally, analysis of the 11p15 locus showed a paternal uniparental disomy in both IGF2-high and IGF2-low tumors, but low IGF2 expression could be explained in most IGF2-low ACC by an additional epigenetic modification at the 11p15 locus. 25089899 2014
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE Our aim was to assess the expression of 5 selected miRNAs (IGF2 gene-related miR-483-3p and 5p and hypoxia-induced miR-210, miR-195, and miR-1974) in a series of 51 ACCs (35 classical, 6 myxoid, and 10 oncocytic) as compared with clinical and pathologic features and immunohistochemical expression of prognostic markers, including steroidogenic factor 1, p53, β-catenin, and glucose transporter 1. 24890943 2014
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE Abnormal β-catenin staining and CTNNB1 mutations are reported to be common in both adrenocortical adenoma and ACC, whereas elevated IGF2 expression is associated primarily with ACC. 22800756 2012
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE The objective of this study was to define the role played by ERα in 17β-estradiol (E2)- and IGF-II-dependent ACC growth and evaluate whether selective estrogen receptor modulators are effective in controlling ACC growth in vivo. 23074235 2012
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE Transcriptome analysis has shown that, in comparison with ACA, IGF2 is indeed the gene most overexpressed in ACC. 21208995 2011
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE The present study suggests that the disorganized expression of steroidogenic enzymes and the overexpression of IGF-II by the tumor are hallmarks of ACC, which could be used as biochemical and molecular markers for ACC. 21521927 2011
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE The best results, however, were obtained with a combination of IGF2 and Ki-67, with 96% sensitivity and 100% specificity in diagnosing ACCs. 19218281 2009
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE Transcriptome studies have identified an IGF-II cluster of genes significantly over-expressed in ACCs. 19500768 2009
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 Biomarker disease BEFREE Although ACC is extremely rare, recent advances in genomic and expression profiling, coupled with knowledge gained from the study of the inherited syndromes that increase ACC risk, are beginning to bring together a picture of a tumor type dependent on p53, the G2/M cell cycle transition and IGF2 stimulation. 19519204 2009
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE As confirmed by real-time PCR, the IGF2 gene was significantly upregulated in ACCs versus cortical adenomas and normal cortical tissue. 16556722 2006
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.100 AlteredExpression disease BEFREE Increased expression of IGF2 was identified in 10 of 11 ACCs (90.9%) and was verified by quantitative reverse transcriptase-polymerase chain reaction. 12547710 2003