IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 422; N. variants: 24
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0565599
Disease:
Maternal hypertension
0.010 GeneticVariation BEFREE Pregnancy Hypertension and a Commonly Inherited IGF1R Variant (rs2016347) Reduce Breast Cancer Risk by Enhancing Mammary Gland Involution. 31687025 2019
dbSNP: rs33958176
rs33958176
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0013336
Disease:
Dwarfism
0.010 GeneticVariation BEFREE A 13-yr-old girl with short stature was studied for functional analysis of the R481Q mutation in the IGF-IR. 17264177 2007
dbSNP: rs2229765
rs2229765
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE A 1:1 case-control study was conducted.The G --> A polymorphism of IGF-1R gene (rs2229765) were analyzed by TaqMan SNP genotyping technique in Chinese patients with IS (n = 309) and old subjects without IS (n = 309). 18477064 2008
dbSNP: rs1815009
rs1815009
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE A case-control study indicated that rs1815009 and rs2654981 in IGF-1R were significantly associated with hypertension, with odds ratios of 0.89 (P = 0.009) and 1.19 (P = 0.034), respectively, after adjusting for covariates. 29126188 2018
dbSNP: rs2654981
rs2654981
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE A case-control study indicated that rs1815009 and rs2654981 in IGF-1R were significantly associated with hypertension, with odds ratios of 0.89 (P = 0.009) and 1.19 (P = 0.034), respectively, after adjusting for covariates. 29126188 2018
dbSNP: rs2229765
rs2229765
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE A dominant genetic model was established for IGF-1R rs2229765 polymorphism and CRC progression. 25189651 2014
dbSNP: rs2684761
rs2684761
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE A significant association of rs2684761 with arterial hypertension was also observed (odds ratio per G allele 1.29, 95% confidence interval 1.02-1.64, P = 0.037) after adjusting for age and homeostasis model assessment-insulin resistance. 20179633 2010
dbSNP: rs2229765
rs2229765
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0238463
Disease:
Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE A SNP (rs2229765) was associated with the development of PTC (OR = 0.56, 95% CI = 0.35-0.89, P = 0.016 in a codominant model 1; OR = 0.29, 95% CI = 0.11-0.78, P = 0.012 in a codominant model 2; OR = 0.51, 95% CI = 0.32-0.79, P = 0.0028 in a dominant model; OR = 0.38, 95% CI = 0.15-1.01, P = 0.031 in a recessive model; OR = 0.55, 95% CI = 0.38-0.80, P = 0.0001 in a log-additive model; OR = 1.78, 95% CI = 1.25-2.54, P = 0.002 in allele distribution). 22909219 2012
dbSNP: rs772820424
rs772820424
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE A unique G310D variant in IGF1R, which occurs in 6% American Indians, may impair IGF1R signalling pathways, thereby increasing the risk of T2D. 29470850 2018
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C4733095
Disease:
HER2-negative breast cancer
0.010 GeneticVariation BEFREE Additionally, we found a SNP (rs2016347) in IGF1R as a potential predictive marker for chemotherapy efficacy in BC patients treated with TAC. 26738606 2016
dbSNP: rs8032477
rs8032477
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs8032477
rs8032477
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs12439557
rs12439557
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs12439557
rs12439557
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs11635251
rs11635251
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs11635251
rs11635251
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs12916884
rs12916884
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs12916884
rs12916884
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs28457673
rs28457673
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE By network analysis and literature mining, we proposed a potential mechanism of miRSNPs→gene→pathway effects on MG pathogenesis, especially for rs28457673 (miR-15/16/195/424/497 family)→IGF1R→hsa05200 (pathway in cancer). 25118158 2014
dbSNP: rs28457673
rs28457673
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE By network analysis and literature mining, we proposed a potential mechanism of miRSNPs→gene→pathway effects on MG pathogenesis, especially for rs28457673 (miR-15/16/195/424/497 family)→IGF1R→hsa05200 (pathway in cancer). 25118158 2014
dbSNP: rs11247361
rs11247361
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0410632
Disease:
Schmorl's nodes
0.010 GeneticVariation BEFREE Different genetic associations were found with different phenotypes: disc bulge with three SNPs of CILP; annular tears with rs2249350 of ADAMTS5 and rs11247361 IGF1R; modic changes with VDR and MMP20; Pfirmann grading with three SNPs of MMP20 and Schmorl node with SNPs of CALM1 and FN1 and none with Total End Plate Score.Subgroup analysis based on three age groups and dividing the total population into two groups also completely changed the associations for all the six radiographic parameters. 27513226 2016
dbSNP: rs7166348
rs7166348
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE Furthermore, among patients without EGFR mutation, those who have at least one polymorphic A allele of IGF1R rs7166348 have an increased incidence of lymph node metastasis when compared with those patients homozygous for GG (OR, 2.75; 95% CI, 1.20-2.31). 27213344 2016
dbSNP: rs13379905
rs13379905
Entrez Id: 3480;104472848
Gene Symbol: IGF1R;IRAIN
IGF1R;IRAIN
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In a follow-up study, rs13379905 in IGF-1R was associated with hype</span>rtension incidence (hazard ratio, HR = 1.24, P = 0.042). 29126188 2018
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0852036
Disease:
Pregnancy associated hypertension
0.020 GeneticVariation BEFREE In a subsample of 1,240 women, there was evidence of modification in the association between PIH and %FGV by specific vascular endothelial growth factor (VEGF) (rs3025039) and insulin growth factor receptor-1 (IGFR1) (rs2016347) gene variants. 24801045 2014
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0853879
Disease:
Invasive carcinoma of breast
0.010 GeneticVariation BEFREE In multivariable analysis, patients with primary invasive breast cancer carrying IGF1R_rs2016347 G allele had a significantly increased risk of early tumor progression (hazard ratio (HR) 2.01; adjusted P=0.004) and death (HR 1.84; adjusted P=0.023) compared with patients carrying G/T or T/T, independent of established clinicopathological determinants. 23459444 2014