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 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 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 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: 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 GeneticVariation disease BEFREE We identified, through whole-exome sequencing, a de novo IGF2 indel mutation leading to frameshift (NM_000612.5:c.110_117delinsAGGTAA, p.(Leu37Glnfs*31)) in a patient with Silver-Russell syndrome, ectrodactyly, undermasculinized genitalia, developmental delay, and placental hypoplasia. 28489339 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE Functional experiments were then used to link these genes into a regulatory pathway.ResultsWe report the first mutations of the PLAG1 gene in humans, as well as new mutations in HMGA2 and IGF2 in six sporadic and/or familial cases of SRS. 28796236 2018
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE 53% of the 201 patients initially enrolled fulfilled the criteria for SRS and about 40% of them exhibited an epimutation at the H19-IGF2 locus. 19066168 2009
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE A further 2 patients had hypomethylation in the H19/IGF2 region or mUPD7 consistent with Silver-Russell Syndrome (total with genetic diagnosis 51/107, 48% or 41/97, 42% probands). 28870985 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). 20007505 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 GeneticVariation disease BEFREE Around 50% of children with Silver-Russell syndrome (SRS) carry a hypomethylation of the imprinting control region 1 at the IGF2/H19 locus on 11p15, the functional significance of which is unknown. 18230663 2008
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 GeneticVariation disease BEFREE We identified five hepatoblastomas informative for a transcribed polymorphism of the IGF2 gene. 7728748 1995
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 GeneticVariation disease BEFREE We studied the activation status of the Wnt and Notch pathways and the differential expression of hepatocyte nuclear factor 4alpha, EGFR, and IGF2 genes, relevant to liver development and malignant transformation in histologic variants of hepatoblastoma. 19200579 2009
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 GeneticVariation disease BEFREE We and others have previously shown that the overexpression of insulin-like growth factor 2 (IGF2), loss of imprinting at the IGF2/H19 locus, and amplification of pleomorphic adenoma gene 1 (PLAG1) are common features in HB, suggesting a critical role of the IGF axis in hepatoblastomagenesis. 22401581 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE The combination of IGF-2 +3580 AA genotype and IGF-2R GG genotype may present a significantly lower risk of HCC (OR = 0.20, 95% CI = 0.05-0.87). 20119675 2010
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE These results suggest that hypomethylation at the Igf2 locus in the liver could be predictive for HCC occurrence in HCV cirrhosis. 18803353 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE Differential promoter usage for insulin-like growth factor-II gene in Chinese hepatocellular carcinoma with hepatitis B virus infection. 16697535 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE IGF2 polymorphisms were found to be strongly associated with the clearance of HBV or the occurrence of HCC in patients with chronic HBV infection. 16750516 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease LHGDN IGF2 polymorphisms were found to be strongly associated with the clearance of HBV or the occurrence of HCC in patients with chronic HBV infection. 16750516 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE These observations suggest that loss of parental-specific methylation at the IGF2 locus may be specifically associated with HCC, whether virus-associated or non-virus-associated, and arising in cirrhotic or non-cirrhotic livers. 14595760 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE Hypomethylated P4 promoter induces expression of the insulin-like growth factor-II gene in hepatocellular carcinoma in a Chinese population. 16857788 2006
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 GeneticVariation disease BEFREE The combination of IGF-2+3580 AA homozygosity and IGF-2R 1619 GG homozygosity presented a significant protective effect against HCC (OR=0.16,95% CI=0.08-0.34, P=0.005). 24656929 2014
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 GeneticVariation disease BEFREE To understand how the same disease can result from misregulation of two linked, but unrelated, genes, we generated a mouse model for BWS that both harbors a null mutation in p57(Kip2) and displays loss of Igf2 imprinting. 10601037 1999
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 GeneticVariation disease BEFREE A female child with features fitting in with the BWS diagnostic framework and an apparent loss of imprinting (LOI) of the IGF2 gene in 11p15.5 was also reported to have a de novo chromosome 18q segmental deletion (Patient 1), thus pointing at the location of a possible trans-activating regulator element for maintenance of IGF2 imprinting and providing one of the few examples of locus heterogeneity of BWS. 17994567 2007
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 GeneticVariation disease BEFREE It was the aim of this study to examine the IGF-II locus and its surrounding chromosomal environment for such lesions in a large number of WBS patients. 1356784 1992
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.600 GeneticVariation disease BEFREE The only known mutations associated with BWS are maternally transmitted translocations, which are clustered in two locations centrometric to IGF2. 8968759 1996