IGF2, insulin like growth factor 2, 3481

N. diseases: 604; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17885785
rs17885785
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C4310768
Disease:
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
dbSNP: rs17885785
rs17885785
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0004364
Disease:
Autoimmune Diseases
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
dbSNP: rs17885785
rs17885785
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0009324
Disease:
Ulcerative Colitis
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
dbSNP: rs1004446
rs1004446
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C1272321
Disease:
Autoantibody measurement
G 0.700 GeneticVariation GWASDB Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
dbSNP: rs1004446
rs1004446
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0026769
Disease:
Multiple Sclerosis
0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
dbSNP: rs1064794050
rs1064794050
Entrez Id: 3481;619552;723961
Gene Symbol: IGF2;MIR483;INS-IGF2
IGF2;MIR483;INS-IGF2
CUI: C0175693
Disease:
Russell-Silver syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1114167321
rs1114167321
Entrez Id: 3481;619552;723961
Gene Symbol: IGF2;MIR483;INS-IGF2
IGF2;MIR483;INS-IGF2
CUI: C0175693
Disease:
Russell-Silver syndrome
ACG 0.700 CausalMutation CLINVAR
dbSNP: rs869320620
rs869320620
Entrez Id: 3481;619552;723961
Gene Symbol: IGF2;MIR483;INS-IGF2
IGF2;MIR483;INS-IGF2
CUI: C4225307
Disease:
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
T 0.700 CausalMutation CLINVAR
dbSNP: rs4320932
rs4320932
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.020 GeneticVariation BEFREE The C allele of rs4320932, previously associated with decreased risk of ovarian cancer development, was here associated with significantly elevated risks of relapse (Ptrend = 0.0002) and death (Ptrend = 0.0006), remaining significant in multivariate analyses. 23677070 2013
dbSNP: rs4320932
rs4320932
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.020 GeneticVariation BEFREE The C allele of rs4320932, previously associated with decreased risk of ovarian cancer development, was here associated with significantly elevated risks of relapse (Ptrend = 0.0002) and death (Ptrend = 0.0006), remaining significant in multivariate analyses. 23677070 2013
dbSNP: rs4320932
rs4320932
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C0919267
Disease:
ovarian neoplasm
0.020 GeneticVariation BEFREE The C allele of rs4320932, previously associated with decreased risk of ovarian cancer development, was here associated with significantly elevated risks of relapse (Ptrend = 0.0002) and death (Ptrend = 0.0006), remaining significant in multivariate analyses. 23677070 2013
dbSNP: rs4320932
rs4320932
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.020 GeneticVariation BEFREE In the combined set of studies, rs4320932 was associated with a 13% decreased risk of ovarian cancer per copy of the minor allele carried (95% confidence interval 0.81-0.93, P-trend=7.4 × 10(-5)). 21422097 2011
dbSNP: rs4320932
rs4320932
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.020 GeneticVariation BEFREE In the combined set of studies, rs4320932 was associated with a 13% decreased risk of ovarian cancer per copy of the minor allele carried (95% confidence interval 0.81-0.93, P-trend=7.4 × 10(-5)). 21422097 2011
dbSNP: rs4320932
rs4320932
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C0919267
Disease:
ovarian neoplasm
0.020 GeneticVariation BEFREE In the combined set of studies, rs4320932 was associated with a 13% decreased risk of ovarian cancer per copy of the minor allele carried (95% confidence interval 0.81-0.93, P-trend=7.4 × 10(-5)). 21422097 2011
dbSNP: rs1004446
rs1004446
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Three single nucleotide polymorphisms were associated with increased diabetes risk (rs10517086_A [<i>P</i> = 0.03], rs1534422_G [<i>P</i> = 0.006], and rs2327832_G [<i>P</i> = 0.03] in <i>TNFAIP3</i>) and one with decreased risk (rs1004446_A in <i>INS</i> [<i>P</i> = 0.006]). 28903990 2017
dbSNP: rs1004446
rs1004446
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Three single nucleotide polymorphisms were associated with increased diabetes risk (rs10517086_A [<i>P</i> = 0.03], rs1534422_G [<i>P</i> = 0.006], and rs2327832_G [<i>P</i> = 0.03] in <i>TNFAIP3</i>) and one with decreased risk (rs1004446_A in <i>INS</i> [<i>P</i> = 0.006]). 28903990 2017
dbSNP: rs10770125
rs10770125
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0020456
Disease:
Hyperglycemia
0.010 GeneticVariation BEFREE Meta-analysis of the associations including data from 1367 Hyperglycaemia and Adverse Pregnancy Outcome Study participants confirmed the paternally-transmitted fetal IGF2/INS SNP associations (rs10770125, P-value=3.2×10<sup>-8</sup>, rs2585, P-value=3.6×10<sup>-5</sup>) and the composite fetal imprinted gene allele score association (P-value=1.3×10<sup>-8</sup>), but not the maternally-transmitted fetal KCNQ1(OT1) associations (rs231841, P-value=0.4; rs7929804, P-value=0.2). 28392167 2017
dbSNP: rs10770125
rs10770125
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE Four fetal SNP alleles with the strongest univariate associations: paternally-transmitted IGF2 rs10770125 (P-value=2×10<sup>-4</sup>) and INS rs2585 (P-value=7×10<sup>-4</sup>), and maternally-transmitted KCNQ1(OT1) rs231841 (P-value=1×10<sup>-3</sup>) and KCNQ1(OT1) rs7929804 (P-value=4×10<sup>-3</sup>), were used to construct a composite fetal imprinted gene allele score which was associated with maternal glucose concentrations (P-value=4.3×10<sup>-6</sup>, n=981, r<sup>2</sup>=2.0%) and GDM prevalence (odds ratio per allele 1.44 (1.15, 1.80), P-value=1×10<sup>-3</sup>, n=89 cases and 899 controls). 28392167 2017
dbSNP: rs2585
rs2585
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C0085207
Disease:
Gestational Diabetes
0.010 GeneticVariation BEFREE Four fetal SNP alleles with the strongest univariate associations: paternally-transmitted IGF2 rs10770125 (P-value=2×10<sup>-4</sup>) and INS rs2585 (P-value=7×10<sup>-4</sup>), and maternally-transmitted KCNQ1(OT1) rs231841 (P-value=1×10<sup>-3</sup>) and KCNQ1(OT1) rs7929804 (P-value=4×10<sup>-3</sup>), were used to construct a composite fetal imprinted gene allele score which was associated with maternal glucose concentrations (P-value=4.3×10<sup>-6</sup>, n=981, r<sup>2</sup>=2.0%) and GDM prevalence (odds ratio per allele 1.44 (1.15, 1.80), P-value=1×10<sup>-3</sup>, n=89 cases and 899 controls). 28392167 2017
dbSNP: rs975030738
rs975030738
Entrez Id: 3481;619552;723961
Gene Symbol: IGF2;MIR483;INS-IGF2
IGF2;MIR483;INS-IGF2
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The tumor carried a heterozygous p.T41A mutation in CTNNB1. 27213811 2016
dbSNP: rs1003483
rs1003483
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0271183
Disease:
Severe myopia
0.010 GeneticVariation BEFREE SNPs in the INS-IGF2 region (rs2070762 and rs1003483), and the INSR gene (rs3745551 and rs2229429) showed significant association with HM (allelic P = 0.0085, 0.0494, 0.0171 and 0.0238, respectively). 25266237 2015
dbSNP: rs10770125
rs10770125
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0011881
Disease:
Diabetic Nephropathy
0.010 GeneticVariation BEFREE IGF2 rs10770125 was also associated with DN in male T1D patients of the GoKinD population (P=0.038, OR=0.67 95% CI 0.46-0.98). 22770937 2013
dbSNP: rs10770125
rs10770125
Entrez Id: 3481;51214;723961
Gene Symbol: IGF2;IGF2-AS;INS-IGF2
IGF2;IGF2-AS;INS-IGF2
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE IGF2 rs10770125 was also associated with DN in male T1D patients of the GoKinD population (P=0.038, OR=0.67 95% CI 0.46-0.98). 22770937 2013
dbSNP: rs680
rs680
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like growth factor-1 (IGF-I) (CA)( n ) repeat, insulin-like growth factor-2 (IGF-II) (rs680), insulin-like growth factor-binding protein-3 (IGFBP-3) (rs2854744), and adiponectin (APM1 rs1501299) with colon cancer risk, as well as relationships with circulating IGF-I, IGF-II, IGFBP-3, and C-peptide in a population-based study. 22565227 2012
dbSNP: rs680
rs680
Entrez Id: 3481;723961
Gene Symbol: IGF2;INS-IGF2
IGF2;INS-IGF2
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like growth factor-1 (IGF-I) (CA)( n ) repeat, insulin-like growth factor-2 (IGF-II) (rs680), insulin-like growth factor-binding protein-3 (IGFBP-3) (rs2854744), and adiponectin (APM1 rs1501299) with colon cancer risk, as well as relationships with circulating IGF-I, IGF-II, IGFBP-3, and C-peptide in a population-based study. 22565227 2012