Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C4552000
Disease:
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: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0268800
Disease:
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: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C3887499
Disease:
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: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0022680
Disease:
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
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C4552000
Disease:
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
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0268800
Disease:
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
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0022680
Disease:
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
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C3887499
Disease:
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: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE Based on the findings, the incidence of TB and L-selectin polymorphism in the Phe206Leu gene had no significant association. 29430726 2018
dbSNP: rs2205849
rs2205849
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE The -642C>T (rs2205849) and 725C>T (rs2229569) polymorphisms have been associated with changes in gene expression, ligand affinity and increased risk of cardiovascular disease. 28478085 2017
dbSNP: rs2229569
rs2229569
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE The -642C>T (rs2205849) and 725C>T (rs2229569) polymorphisms have been associated with changes in gene expression, ligand affinity and increased risk of cardiovascular disease. 28478085 2017
dbSNP: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE In order to find new informative predictors of myocardial infarction, we performed an analysis of genotype frequencies of polymorphic markers of SELE (rs2076059, 3832T > C), SELP (rs6131, S290 N), SELL (rs1131498, F206L), ICAM1 (rs5498, K469E), VCAM1 (rs3917010, c.928 + 420A > C), PECAM1 (rs668, V125L), VEGFA (rs35569394, -2549(18)I/D), CCL2 (rs1024611, -2518A > G), NOS3 (rs1799983, E298D), and DDAH1 (rs669173, c.303 + 30998A > G) genes in the group of Russian men with myocardial infarction (N = 315) and the control group of corresponding ethnicity, gender, and age (N = 286). 26662939 2016
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0919267
Disease:
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: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1140680
Disease:
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: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C4721610
Disease:
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: rs2076059
rs2076059
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE In order to find new informative predictors of myocardial infarction, we performed an analysis of genotype frequencies of polymorphic markers of SELE (rs2076059, 3832T > C), SELP (rs6131, S290 N), SELL (rs1131498, F206L), ICAM1 (rs5498, K469E), VCAM1 (rs3917010, c.928 + 420A > C), PECAM1 (rs668, V125L), VEGFA (rs35569394, -2549(18)I/D), CCL2 (rs1024611, -2518A > G), NOS3 (rs1799983, E298D), and DDAH1 (rs669173, c.303 + 30998A > G) genes in the group of Russian men with myocardial infarction (N = 315) and the control group of corresponding ethnicity, gender, and age (N = 286). 26662939 2016
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0919267
Disease:
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
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1140680
Disease:
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
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0596263
Disease:
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
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C4721610
Disease:
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: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE No association was found between F206L polymorphism of L-selectin with asthma. 24798295 2015
dbSNP: rs5368
rs5368
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In single-marker analyses, each copy of the minor alleles of correlated SELE markers rs4656704, rs6427212, and rs5368 were associated with increased risk of developing hypertension (P for trend = 1.48 × 10(-4), 6.69 × 10(-5), and 7.64 × 10(-5), respectively). 25424718 2015
dbSNP: rs5368
rs5368
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs6427212
rs6427212
Entrez Id: 55732
Gene Symbol: C1orf112
C1orf112
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In single-marker analyses, each copy of the minor alleles of correlated SELE markers rs4656704, rs6427212, and rs5368 were associated with increased risk of developing hypertension (P for trend = 1.48 × 10(-4), 6.69 × 10(-5), and 7.64 × 10(-5), respectively). 25424718 2015
dbSNP: rs754829637
rs754829637
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.010 GeneticVariation BEFREE Mutations (Q368X, Y437H, A427T) were selected to represent proteins with differing POAG-causing potency (Q368X > Y437H > A427T) and intracellular retention behavior (Q368X and Y437H retained, A427T released). 26396484 2015