ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE A common isoform of integrin β3, Leu33Pro is associated with enhanced platelet function and increased risk for coronary thrombosis and stroke, although these findings remain controversial. 24695082 2014
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0038454
Disease:
Cerebrovascular accident
0.020 GeneticVariation BEFREE This is the first study to demonstrate associations between stroke functional outcome and 2 COX-2 variants (rs20417 and rs5275) and a GPIIIa variant (rs5918). 20472470 2011
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE The ITGB3 176T>C polymorphisms was not associated with breast cancer susceptibility. 16317580 2006
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Herein, we evaluated the predictive potential of three germline single nucleotide polymorphisms (SNPs) in the integrin β3 gene (rs3809865, rs5918 and rs4642) to predict the risk of venous thromboembolism (VTE) in colorectal cancer (CRC) patients, which is one of the leading causes of death among cancer patients. 26440977 2015
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE The ITGB3 176T>C polymorphisms was not associated with breast cancer susceptibility. 16317580 2006
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE The univariate analysis indicated that the five variants; rs1800595 (FVR2; factor 5), rs1801133 (MTHFR; 5,10-methylenetetrahydrofolate reductase), rs5918 (HPA-1; human platelet antigen 1), rs1799752 (ACE; angiotensin-converting enzyme), and rs7412 and rs429358 (ApoE; apolipoprotein E) were significantly associated with CAD susceptibility under different genetic models. 28086795 2017
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0007222
Disease:
Cardiovascular Diseases
0.020 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735 2016
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0007222
Disease:
Cardiovascular Diseases
0.020 GeneticVariation BEFREE Our results suggest that variation in ITGB3 in addition to Leu33Pro could contribute to susceptibility to CVD and serotonin in a sex-specific manner. 15834589 2005
dbSNP: rs958609406
rs958609406
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease:
Thrombasthenia
0.020 GeneticVariation BEFREE Sanger sequencing of DNA from the propositus identified 2 heterozygous ITGB3 gene mutations: p.P189S and p.C210S both of which prevent αIIbβ3 expression and are causative of GT but without explaining the presence of enlarged platelets. 31565851 2019
dbSNP: rs958609406
rs958609406
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease:
Thrombasthenia
0.020 GeneticVariation BEFREE Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. 24236036 2013
dbSNP: rs1226052130
rs1226052130
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0398623
Disease:
Thrombophilia
0.010 GeneticVariation BEFREE A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations. 30819996 2019
dbSNP: rs1226052130
rs1226052130
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE This study compared genetic polymorphisms (factor V Leiden [FVL] 1691G/A, factor VII [FVII] 10976G/A, FVII HVR4, platelet membrane glycoproteins GP1BA 1018C/T, GP1BA VNTR, integrin ITGB3 1565T/C, ITGA2 807C/T and methylenetetrahydrofolate reductase [MTHFR] 677C/T), biochemical (fibrinogen and homocysteine), and conventional risk factors in 184 young and 166 elderly north Indian patients with acute myocardial infarction (AMI). 25155498 2016
dbSNP: rs12603582
rs12603582
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Interestingly, rs12603582 is strongly associated with pre-term delivery in our ASD patients (P=0.008). 21102624 2011
dbSNP: rs12603582
rs12603582
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0013528
Disease:
Echolalia
0.010 GeneticVariation BEFREE The analyses of the clinical symptoms showed a trend for an association with rs12603582 (P=0.008; Pcorr=0.064) and positive results for the haplotype composed of rs15908 and rs12603582 (Pglcorr=0.048; Pindcorr=0.015), both in symptoms of echolalia. 25280596 2014
dbSNP: rs15908
rs15908
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0013528
Disease:
Echolalia
0.010 GeneticVariation BEFREE The analyses of the clinical symptoms showed a trend for an association with rs12603582 (P=0.008; Pcorr=0.064) and positive results for the haplotype composed of rs15908 and rs12603582 (Pglcorr=0.048; Pindcorr=0.015), both in symptoms of echolalia. 25280596 2014
dbSNP: rs2056131
rs2056131
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE The ITGB3 rs2056131 A allele was associated with mold sensitization in subjects with asthma with an odds ratio (95% CI) of 0.60 (0.43-0.83; P = .001). 21570717 2011
dbSNP: rs2317385
rs2317385
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Integrin β3 is encoded by the ITGB3 gene, previously identified as a quantitative trait locus (QTL) for 5-HT blood levels in ASD at single nucleotide polymorphism (SNP) rs2317385. 30535103 2019
dbSNP: rs2317676
rs2317676
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We found that CT and TT genotypes of rs17468 were associated with a significantly </span>increased risk of CRC (OR = 1.67, 95 % CI = 1.090-2.559 for CT + TT vs. CC), also the AG and GG genotype in ITGB3 rs2317676 (OR = 1.65, 95 % CI = 1.114-2.458 for AG + GG vs. AA). 24777809 2014
dbSNP: rs2317676
rs2317676
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0007282
Disease:
Carotid Stenosis
0.010 GeneticVariation BEFREE The interactions among rs1131882, rs1371097 and rs2317676 perhaps increase the risk of symptomatic carotid stenosis, and maybe a potential marker for carotid stenosis. 30914039 2019
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Herein, we evaluated the predictive potential of three germline single nucleotide polymorphisms (SNPs) in the integrin β3 gene (rs3809865, rs5918 and rs4642) to predict the risk of venous thromboembolism (VTE) in colorectal cancer (CRC) patients, which is one of the leading causes of death among cancer patients. 26440977 2015
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE The SNPs of rs3809865 and rs1190271 might contribute to the prediction of susceptibility and lymph node metastasis of OSCC, which should be thought as a diagnostic marker and a potential therapeutic target. 22271436 2012
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Herein, we evaluated the predictive potential of three germline single nucleotide polymorphisms (SNPs) in the integrin β3 gene (rs3809865, rs5918 and rs4642) to predict the risk of venous thromboembolism (VTE) in colorectal cancer (CRC) patients, which is one of the leading causes of death among cancer patients. 26440977 2015
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE Our data suggest that polymorphisms of the microRNA-binding sites in the 3' UTR region of integrin are associated with GC susceptibility (rs2675), tumor stage (rs2675, rs17664, and rs3809865), and lymphatic metastasis (rs17664) in Chinese Han population. 25472585 2015
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0024232
Disease:
Lymphatic Metastasis
0.010 GeneticVariation BEFREE Our data suggest that polymorphisms of the microRNA-binding sites in the 3' UTR region of integrin are associated with GC susceptibility (rs2675), tumor stage (rs2675, rs17664, and rs3809865), and lymphatic metastasis (rs17664) in Chinese Han population. 25472585 2015
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Our results revealed that rs3</span>809865 was significantly associated with a</span>sthma due to its effect on the binding of hsa-mir-124 to ITGB3. 23451109 2013