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: rs8038415
rs8038415
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE Moreover, evaluating selected IGF1R SNPs, patients with adenocarcinomas and homozygous for the rs8038415 T-allele had a significantly better survival (P = .025) but no different disease-free survival. 24745618 2014
dbSNP: rs2229765
rs2229765
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE The results indicated that GA + AA genotypes of IGF1R rs2229765 were significantly associated with EGFR mutation in female lung adenocarcinoma patients (odds ratio (OR) = 0.39, 95% confidence interval (CI) = 0.17-0.87). 27213344 2016
dbSNP: rs2872060
rs2872060
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE One SNP (rs2872060) in IGF1R revealed a significant association with advanced AMD (P-allele = 0.0009, P-trend = 0.0008; the significance level was set at 0.05/25 = 0.002 for multiple comparisons). 22058336 2011
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Pregnancy Hypertension and a Commonly Inherited IGF1R Variant (rs2016347) Reduce Breast Cancer Risk by Enhancing Mammary Gland Involution. 31687025 2019
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Study findings indicate that the T allele of IGF1R variant rs2016347 is associated with a significant reduction in breast cancer risk in women with a history of preeclampsia, most marked for HR+ breast cancer and in women with AFB < 30. 28822014 2017
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: 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: 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: 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: 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: rs148662051
rs148662051
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0039093
Disease:
Congenital abnormal Synostosis
0.010 GeneticVariation BEFREE Resequencing of the coding regions, splice junction sites, and 5' and 3' untranslated regions of 27 candidate genes in 186 cases of isolated non-syndromic single suture synostosis revealed three novel and two rare sequence variants (R406H, R595H, N857S, P190S, M446V) in insulin-like growth factor I receptor (IGF1R) that are enriched relative to control samples. 21204214 2011
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: 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: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C4733092
Disease:
estrogen receptor-negative breast cancer
0.010 GeneticVariation BEFREE We provide the first evidence for IGF1R_rs2016347 as an independent prognostic marker for ER+ breast cancer patients treated with TAM and support a rational for combined treatment strategies. 23459444 2014
dbSNP: rs1253103806
rs1253103806
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0015544
Disease:
Failure to Thrive
0.010 GeneticVariation BEFREE Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects. 22130793 2012
dbSNP: rs1253103806
rs1253103806
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0015934
Disease:
Fetal Growth Retardation
0.010 GeneticVariation BEFREE Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects. 22130793 2012
dbSNP: rs187980012
rs187980012
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0015934
Disease:
Fetal Growth Retardation
0.010 GeneticVariation BEFREE We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L) through an 8-year-old girl and her mother, both born with intrauterine growth retardation. 22309212 2012
dbSNP: rs1253103806
rs1253103806
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0878787
Disease:
Growth failure
0.010 GeneticVariation BEFREE Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects. 22130793 2012
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: 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: 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: rs2002880
rs2002880
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Significant associations with hypertension incidence (P < 0.05) were observed for rs6219 in individuals <55 years of age and among those with obesity and a hypertensive family history as well as rs2002880 in obese individuals. 29126188 2018
dbSNP: rs2229765
rs2229765
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Stratification analyses revealed significant associations with hypertension (P < 0.05) for rs35767 in normal weight and obese populations; for rs2229765 in individuals <55 years of age and in overweight and nondrinking populations; and for rs2002880 in overweight and drinking populations. 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: 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