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: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Platelet glycoprotein IIIa Leu33Pro gene polymorphism and coronary artery disease: A meta-analysis of cohort studies. 25167197 2015
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: 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: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE GPIIb-IIIa and GPIb genetic polymorphisms [GPIIIa Leu33Pro, GPIbα Thr145Met and GPIbα (-5)T/C (Kozak)] determined in ACS patients had no significant impact on their expression. 23941967 2014
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
dbSNP: rs398122374
rs398122374
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0040034
Disease:
Thrombocytopenia
0.010 GeneticVariation BEFREE These findings suggest a model whereby the integrin β3-L718P mutation contributes to thrombocytopenia through gain-of-function mechanisms. 23253071 2013
dbSNP: rs398122374
rs398122374
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C1861185
Disease:
THROMBOCYTOPENIA 2 (disorder)
0.010 GeneticVariation BEFREE Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. 23253071 2013
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: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE Cases with AT genotype of rs3809865 and GC genotype of rs11902171 were prone to have regional lymph nodes metastasis (P<0.01). 22271436 2012
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: 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: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE We examined the association of a single nucleotide polymorphism (SNP) in the GPIIIa platelet glycoprotein (Leu33Pro) with carotid artery plaque morphology and with expression of platelet markers using data from the Atherosclerosis Risk in Communities (ARIC) Carotid MRI study. 21353223 2011
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE We examined the association of a single nucleotide polymorphism (SNP) in the GPIIIa platelet glycoprotein (Leu33Pro) with carotid artery plaque morphology and with expression of platelet markers using data from the Atherosclerosis Risk in Communities (ARIC) Carotid MRI study. 21353223 2011
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE The ITGA2 1648G> and the ITGB3 176T>C polymorphism were not associated with colorectal cancer. 18836731 2009
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0577698
Disease:
Exercise-induced angina
0.010 GeneticVariation BEFREE An SNP in ITGB3 (Leu59Pro, rs5918) was slightly, but not significantly (P = .083), more common among patients with acute MI (minor allele frequency 14.5%) than among patients with stable exertional angina (minor allele frequency 12.0%). 18035074 2007
dbSNP: rs867671924
rs867671924
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE There was a statistical difference between the proportions of the mutated allele frequencies of Beta-Fibrinogen-455G-A, MTHFR A1298C and ACE-I/D in IBD. 17111197 2006
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0584960
Disease:
Factor V Leiden mutation
0.010 GeneticVariation BEFREE Genotypes of factor V R506Q (factor V Leiden), prothrombin 20210G>A, fibrinogen beta -455G> A, factor XII (FXII) 46C>T, and ITGA2 807C>T (platelet glycoprotein Ia [GPIa] 807C>T) and ITGB3 L59P (platelet GPIIIa PlA1/PlA2) polymorphisms. 16157382 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: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE We examined the potential role of polymorphisms of the platelet genes GP1BA (rs2243093, rs6065 and VNTR), ITGB3 (rs5918), ITGA2 (rs938043469) and P2RY12 (rs2046934, rs6801273 and rs6798347) as risk factors for myocardial infarction (MI). 30143348 2018
dbSNP: rs2317676
rs2317676
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE The high-risk interactive genotypes of rs20417, rs1371097 and rs2317676 were independently associated with primary adverse outcome of RIS, MI, and death after acute IS. 28344655 2017
dbSNP: rs2317676
rs2317676
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0948008
Disease:
Ischemic stroke
0.020 GeneticVariation BEFREE The rs17110453A>C, rs2317676A>G, and rs16863323C>T three-loci interaction may confer a higher risk for IS. 29050321 2017
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: C0006826
Disease:
Malignant Neoplasms
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