Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5361
rs5361
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
0.010 GeneticVariation BEFREE The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
. 31746731

2020

dbSNP: rs5361
rs5361
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
0.010 GeneticVariation BEFREE To determine the role of E-selectin gene S128R polymorphism on the enlargement of renal cysts in patients with polycystic kidney disease (PKD). 31746731

2020

dbSNP: rs5361
rs5361
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
0.010 GeneticVariation BEFREE The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
. 31746731

2020

dbSNP: rs5361
rs5361
CUI: C3887499
Disease: Renal cyst
Renal cyst
0.010 GeneticVariation BEFREE The role of serum E-selectin level and E-selectin gene S128R polymorphism on the enlargement of renal cyst in patients with polycystic kidney disease: Genetic background of renal cyst growth
. 31746731

2020

dbSNP: rs5361
rs5361
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE In this study, we investigated the association of PPARG Pro12Ala, IL6-174G/C, E-selectin S128R, NFKB1-94 ins/del, NFKBIA-826C/T, and ICAM-1 K469E polymorphisms with ovarian cancer risk in a Chinese population. 25659662

2016

dbSNP: rs5361
rs5361
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE In this study, we investigated the association of PPARG Pro12Ala, IL6-174G/C, E-selectin S128R, NFKB1-94 ins/del, NFKBIA-826C/T, and ICAM-1 K469E polymorphisms with ovarian cancer risk in a Chinese population. 25659662

2016

dbSNP: rs5361
rs5361
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation BEFREE It is concluded that the E-selectin S149R polymorphisms is associated with the oncogenesis of breast cancer in a population in northern Iran. 26828984

2016

dbSNP: rs5361
rs5361
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 GeneticVariation BEFREE In this study, we investigated the association of PPARG Pro12Ala, IL6-174G/C, E-selectin S128R, NFKB1-94 ins/del, NFKBIA-826C/T, and ICAM-1 K469E polymorphisms with ovarian cancer risk in a Chinese population. 25659662

2016

dbSNP: rs5361
rs5361
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.010 GeneticVariation BEFREE The rs5361 E-selectin gene polymorphism is not a susceptibility marker for ACS in Western Mexico population. 25147432

2014

dbSNP: rs5361
rs5361
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE Assessment of the E-selectin rs5361 (561A>C) polymorphism and soluble protein concentration in acute coronary syndrome: association with circulating levels. 25147432

2014

dbSNP: rs5361
rs5361
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation BEFREE The rs5361 (561A>C) polymorphism in the E-selectin gene has been linked to changes in gene expression, affinity for its receptor, and plasmatic levels; therefore it is associated with an increased risk of cardiovascular disease. 25147432

2014

dbSNP: rs5361
rs5361
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 GeneticVariation BEFREE Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591C and T-833C), and E-selectin (S128R) SNPs and susceptibility to GD, higher anti-TPO in E-selectin 128 SR + RR, and lower TSH in ICAM1 469 KE + EE subjects suspect that these genotypes are prone to increased antithyroid autoantibody production with more accentuated TSH suppression in GD. 23242661

2013

dbSNP: rs5361
rs5361
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer
0.010 GeneticVariation BEFREE This is the first report to link inheritance of the A allele, AA and AC genotypes of the E-selectin rs5361 polymorphism with increased risk of RAS. 23772946

2013

dbSNP: rs5361
rs5361
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 GeneticVariation BEFREE In this study, we explored the association between two common variants in the E-selectin gene (rs5361A/C and rs5355C/T) and EH in the Uygur, Kazakh and Han populations in the Xinjiang area. 22158116

2012

dbSNP: rs5361
rs5361
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 GeneticVariation BEFREE Our results indicate that the common variant rs5361 is strongly associated with EH in Han individuals and weakly associated in Uygur individuals. 22158116

2012

dbSNP: rs5361
rs5361
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE E-selectin S128R "C" allele may confer an increased susceptibility to pancreatic cancer development, while its carriage status does not appear to be related to the aggressive features of this malignancy. 20607758

2010

dbSNP: rs5361
rs5361
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE E-selectin S128R "C" allele may confer an increased susceptibility to pancreatic cancer development, while its carriage status does not appear to be related to the aggressive features of this malignancy. 20607758

2010

dbSNP: rs5361
rs5361
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 GeneticVariation BEFREE We postulated that some polymorphisms within the E-selectin gene, especially the S128R polymorphism, may increase the risk of metastases by facilitating adhesion of tumour cells to the endothelium. 19361981

2009

dbSNP: rs5361
rs5361
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE In multivariate analysis, the S128R polymorphism was associated with shorter event-free survival (EFS) and overall survival (OS) in the whole population (EFS: P=.003, HR 1.82, 95% CI 1.23-2.70; OS: P<10(-4), HR 4.31, 95% CI 2.46-10.99), in patients with stage II CRC(EFS: P=.04, HR 1.92, 95% CI 1.02-3.60; OS: P=.02, HR 4.44, 95% CI 1.16-17.03), and in patients with stage III CRC (EFS: P=.04, HR 1.68, 95% CI 1.01-2.80; OS: P=.001, HR 4.04, 95% CI 1.73-9.46). 19361981

2009

dbSNP: rs5361
rs5361
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 GeneticVariation BEFREE Genotype of the S128R polymorphism was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 329 angiographically proven CAD patients [n=83 acute myocardial infarction (AMI) and n= 246 AMI-free] and 331 age and sex matched control individuals (angiographically proven not to have CAD). 19942746

2009

dbSNP: rs5361
rs5361
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 GeneticVariation BEFREE The findings of this study showed that the Ser128Arg polymorphism of E-selectin might contribute to the susceptibility of Iranian individuals to periodontitis. 18973547

2009

dbSNP: rs5361
rs5361
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE E-selectin gene S128R polymorphism is associated with poor prognosis in patients with stage II or III colorectal cancer. 19361981

2009

dbSNP: rs5361
rs5361
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE These results suggest that the Ser128Arg polymorphism of the E-selectin gene is a genetic factor that may be associated with the severity of asthma. 17563404

2007

dbSNP: rs5361
rs5361
Malignant neoplasm of colon stage IV
0.010 GeneticVariation BEFREE We investigated the Ser128Arg (a561c at the nucleotide level) polymorphism in the E-selectin gene in patients with metastatic colon cancer and its functional significance. 17372905

2007

dbSNP: rs5361
rs5361
CUI: C0006309
Disease: Brucellosis
Brucellosis
0.010 GeneticVariation BEFREE The frequency of the Arg/Arg genotype of the Ser128Arg polymorphism was significantly increased in brucellosis patients compared with controls (13.6% versus 6.2%, P=0.03). 17392035

2007