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: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE A reduction in substrate supply in fetal life, resulting in chronic hypoxaemia and intrauterine growth restriction, results in increased cardiac IGF-1R, IGF-2 and IGF-2R gene expression; and there is also evidence for a role of the IGF-2 receptor in the ensuing cardiac hypertrophy. 22774980 2012
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 GeneticVariation phenotype BEFREE Gene mutations in the IGF1 and IGF2 genes have been described in patients presenting intrauterine growth retardation and postnatal short stature. 29249625 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 AlteredExpression phenotype BEFREE The infant with IUGR has a higher serum level of IGF2 if has A/G IGF2-ApaI genotype and higher values of IGF2R if it has the A/A genotype. 28460554 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE We identified one case each of FGR and PIH showing hypomethylation of H19-DMR and IGF2-DMRs only in the placenta, but not in cord blood, from the first case/control set. 31370882 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE We used a well-characterized mouse model of FGR in which placental Igf-2 production is lost due to deletion of the placental specific <i>Igf-2</i> P<sub>0</sub> promotor. 30443254 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 GeneticVariation phenotype BEFREE Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. 18728168 2008
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. 28796236 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 PosttranslationalModification phenotype BEFREE Further mediation analyses showed that IGF2 methylation mediated about 40% of the effects of BDE-17-190 in umbilical cord blood on neonatal FGR. 31655276 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE In the functional significance of gene, low-density lipoprotein receptor-related protein 10 (LRP10) was significantly increased (6-fold) and insulin-like growth factor (IGF-2) was dramatically increased (17-fold) in the FGR cases.The results show that the important brain-related genes are predominantly down-regulated in the intrauterine growth restriction fetuses during the second trimester of pregnancy. 29480850 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE Using quantitative approaches, we explored the epigenetic modulation of IGF2/H19 during human development in 60 normal and 66 idiopathic IUGR (Intrauterine Growth Restriction) pregnancies, studying embryonic (cord blood) and extraembryonic (placenta and umbilical cord) tissues. 20418667 2010
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE Insulin-like growth factor-II (IGF2) deficiency in humans, as well as in mice, leads to intrauterine growth restriction and decreased neonatal glycogen stores. 30016152 2018
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 GeneticVariation phenotype BEFREE Our results suggest the involvement of the IGF2 imprinted gene in placental function and fetal growth and the possible association of epigenetic alterations with the pathophysiology of fetal growth restriction. 21805044 2011
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE Finally alterations in vulnerable epigenetic marks of imprinted genes such as H19/IGF2, during early stages of embryonic development result in intrauterine growth restriction. 27898587 2017
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 AlteredExpression phenotype BEFREE The increase in the transcription of IGF2 and IGF1R in IUGR term placentas may represent a counter regulatory mechanism in response to the growth retardation. 9491374 1998
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 AlteredExpression phenotype BEFREE In placentas from pregnancies with IUGR an overexpression of the IGF-2 and the insulin-like growth factor binding protein (IGFBP)-3 genes was found. 21823995 2011
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 AlteredExpression phenotype BEFREE At lower significance, we found IGF2 mRNA decreased and CDKN1C mRNA increased in the IUGR cases. 16125225 2006
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE We propose that miR-141 may participate in a miR-141-PLAG1-IGF2 network relating to FGR development. 23554918 2013
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE There were significantly lower concentrations of glucose, insulin, IGF-1, and IGF-II in the fetal cord blood of pregnancies with IUGR (p<0.05). 20106611 2010
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE Notably, at 28 weeks' gestation there was increased IGF2 (3.9-fold), placental growth hormone (2.7-fold), and IGF BP2 (2.1-fold) expression in maternal blood in women destined to develop FGR at term (P < .05). 23583218 2013
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 Biomarker phenotype BEFREE A reduction in placental IGF2 could be an adaptive response to restrict fetal growth in the presence of abnormal placentation or a response to poor fetal growth itself. 20060582 2010
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.900 PosttranslationalModification phenotype BEFREE In addition, significantly elevated odds of FGR birth were associated with increasing DNA methylation of HSD11B2 and WNT2, and decreasing DNA methylation of IGF2. 26678531 2016
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
0.700 AlteredExpression disease BEFREE A subset of RS cases were recently shown to have mosaic hypomethylation within the H19/IGF2 imprinting center, predicted to silence paternally expressed IGF2 in early development. 18473334 2008
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
0.700 GeneticVariation disease BEFREE Russell-Silver syndrome due to paternal H19/IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection. 20385510 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
0.700 AlteredExpression disease BEFREE The two alternative chromatin conformations are differently favoured in BWS and SRS likely predisposing the locus to the activation of IGF2 or H19, respectively. 21282187 2011
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
0.700 Biomarker disease BEFREE These findings suggest as causative in SRS a defective mechanism necessary for establishment or maintenance of imprinting marks, which affects imprinted loci in general with low specificity and the IGF2/H19 locus with high specificity, implying the existence of some structural peculiarities at the IGF2/H19 locus. 22248018 2012