rs1058808, ERBB2

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Asthma
CUI: C0004096
Disease: Asthma
0.710 GeneticVariation BEFREE ICSNPathway analysis identified four candidate causal SNPs, four genes, and 21 candidate causal pathways, which in total provided four hypothetical biologic mechanisms: (1) rs7192 (nonsynonymous coding) to HLA-DRA to 21 pathways, such as, the role of eosinophils in the chemokine network of allergy, Th1/Th2 differentiation, and asthma (nominal p ≤ 0.001, FDR p ≤ 0.01); (2) rs20541 (nonsynonymous coding) to IL13 to asthma and cytokines and inflammatory response (nominal p<0.001, FDR p ≤ 0.008); (3) rs1058808 (frameshift coding) to ERBB2 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01); (4) rs17350764 (nonsynonymous coding (deleterious)) to OR52J3 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01). 23200760 2013
Asthma
CUI: C0004096
Disease: Asthma
0.710 GeneticVariation GWASDB Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. 21804549 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE The Pro1170Ala polymorphism is one of the most common polymorphisms of human epidermal growth factor receptor 2 (HER2) and may affect the clinical outcome in breast cancer. 28529593 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE The Pro1170Ala polymorphism is one of the most common polymorphisms of human epidermal growth factor receptor 2 (HER2) and may affect the clinical outcome in breast cancer. 28529593 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE The underlying link between the Ala1170Pro SNP and HER2 positivity is not known, nor is the significance of HER2 overexpression and loss of heterozygosity in breast cancer. 26773371 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE The underlying link between the Ala1170Pro SNP and HER2 positivity is not known, nor is the significance of HER2 overexpression and loss of heterozygosity in breast cancer. 26773371 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE HER2 rs1058808 and rs2517956 polymorphisms are associated with its protein expression in breast cancer. 26323365 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE HER2 rs1058808 and rs2517956 polymorphisms are associated with its protein expression in breast cancer. 26323365 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE ERBB2 Ala1170Pro was not associated with breast cancer susceptibility. 23900832 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE ERBB2 Ala1170Pro was not associated with breast cancer susceptibility. 23900832 2013
HER2-positive carcinoma of breast
CUI: C1960398
Disease: HER2-positive carcinoma of breast
0.020 GeneticVariation BEFREE This study demonstrates that only the Ala1170Pro polymorphism is associated with prognostic factors in HER2-positive breast cancer patients. 27788409 2016
HER2-positive carcinoma of breast
CUI: C1960398
Disease: HER2-positive carcinoma of breast
0.020 GeneticVariation BEFREE In a retrospective cohort study of 237 women with non-metastatic HER2-positive breast cancer treated with trastuzumab, traditional risk factors were assessed by review of medical records, alcohol use by an administered questionnaire to women (n=132), and HER2 polymorphisms (Ile655Val and Ala1170Pro) using TaqMan assays (n=73). 23749910 2013
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE <b>Conclusions:</b> Our results suggested that the combination of <i>HER2</i> rs1136201and rs1058808 was significantly associated with the susceptibility of CCa. 30719131 2019
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.010 GeneticVariation BEFREE Increased risk for GC was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12-6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01-5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00-4.87, P=0.046). 31116314 2019
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.010 GeneticVariation BEFREE <b>Conclusions:</b> Our results suggested that the combination of <i>HER2</i> rs1136201and rs1058808 was significantly associated with the susceptibility of CCa. 30719131 2019
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.010 GeneticVariation BEFREE <b>Conclusions:</b> Our results suggested that the combination of <i>HER2</i> rs1136201and rs1058808 was significantly associated with the susceptibility of CCa. 30719131 2019
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE Increased risk for GC was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12-6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01-5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00-4.87, P=0.046). 31116314 2019
Eczema
CUI: C0013595
Disease: Eczema
0.010 GeneticVariation BEFREE The CC genotype of <i>CDKAL1</i> had significantly increased risk of AD (OR, 2.16; 95% CI, 1.0~4.6; <i>p</i>=0.0475). rs1058808</span> had no correlation with AD. 29853740 2018
Dermatitis, Atopic
CUI: C0011615
Disease: Dermatitis, Atopic
0.010 GeneticVariation BEFREE The CC genotype of <i>CDKAL1</i> had significantly increased risk of AD (OR, 2.16; 95% CI, 1.0~4.6; <i>p</i>=0.0475). rs1058808</span> had no correlation with AD. 29853740 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE In our previous study, we demonstrated that rs61552325 (Pro1140Ala) located in ERBB2 is strongly correlated to prostate cancer. 28422721 2017
HER2-negative breast cancer
CUI: C4733095
Disease: HER2-negative breast cancer
0.010 GeneticVariation BEFREE The results of the present study suggest that patients with HER2-negative breast cancer with the HER2 Pro1170Ala polymorphism variant exhibit a decreased survival outcome. 28529593 2017
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE In our previous study, we demonstrated that rs61552325 (Pro1140Ala) located in ERBB2 is strongly correlated to prostate cancer. 28422721 2017
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.010 GeneticVariation BEFREE However, we found significant differences in the distribution of Ile655Val (p = 0.03) and Ala1170Pro (p = 0.01) genotypes between normal breast and breast tumor tissues. 27788409 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Ala1170Pro polymorphism in normal breast tissue was associated with age at diagnosis (p = 0.007), tumor size (p = 0.004) and lymphovascular invasion (p = 0.06). 27788409 2016
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.010 GeneticVariation BEFREE Ala1170Pro polymorphism in normal breast tissue was associated with age at diagnosis (p = 0.007), tumor size (p = 0.004) and lymphovascular invasion (p = 0.06). 27788409 2016