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: 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: 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: 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: rs55827077
rs55827077
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Our results support rs55827077 as the functional ITGB3 gene promoter variant contributing to elevated 5-HT blood levels in ASD and define a mechanistic chain of events linking ITGB3 to hyperserotonemia. 30535103 2019
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C0220650
Disease:
Metastatic malignant neoplasm to brain
0.010 GeneticVariation BEFREE ST6GALNAC5 rs17368584 and ITGB3 rs3809865 were significantly associated with BM susceptibility. 26689941 2017
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Our studies identify a complex regulation of 5-HT homeostasis and behaviors by integrin αvβ3, revealing an important role for integrins in modulating risk for neuropsychiatric disorders.<b>SIGNIFICANCE STATEMENT</b> The integrin β3 Leu33Pro coding polymorphism has been associated with autism spectrum disorders (ASDs) within a subgroup of patients with elevated blood 5-HT levels, linking integrin β3, 5-HT, and ASD risk. 29038237 2017
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0424295
Disease:
Hyperactive behavior
0.010 GeneticVariation BEFREE The <i>ITGB3</i> coding polymorphism Leu33Pro (rs5918, Pl<sup>A2</sup>) produces hyperactive αvβ3 receptors that influence whole-blood 5-HT levels and may influence the risk for autism spectrum disorder (ASD). 29038237 2017
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0149871
Disease:
Deep Vein Thrombosis
0.010 GeneticVariation BEFREE Carriage of genetic variant rs5918(C) polymorphism in ITGB3 gene in women contributes to higher risk of single and recurrent DVT events at younger age. 26739544 2017
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: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0948008
Disease:
Ischemic stroke
0.010 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: rs867671924
rs867671924
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 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: rs867671924
rs867671924
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0948008
Disease:
Ischemic stroke
0.010 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: 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: 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: C0699791
Disease:
Stomach Carcinoma
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: C1861172
Disease:
Venous Thromboembolism
0.010 GeneticVariation BEFREE This study identified the rs3809865 A/A genotype as an independent risk factor for VTE in CRC patients. 26440977 2015
dbSNP: rs3809865
rs3809865
Entrez Id: 3690;102724508
Gene Symbol: ITGB3;THCAT158
ITGB3;THCAT158
CUI: C1306459
Disease:
Primary malignant neoplasm
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: rs4642
rs4642
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1861172
Disease:
Venous Thromboembolism
0.010 GeneticVariation BEFREE The SNPs rs5918 and rs4642 were not associated with VTE risk. 26440977 2015
dbSNP: rs4642
rs4642
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
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: rs4642
rs4642
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1306459
Disease:
Primary malignant neoplasm
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: rs4642
rs4642
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
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: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Platelet glycoprotein IIIa Leu33Pro gene polymorphism and coronary artery disease: A meta-analysis of cohort studies. 25167197 2015
dbSNP: rs5918
rs5918
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C1861172
Disease:
Venous Thromboembolism
0.010 GeneticVariation BEFREE The SNPs rs5918 and rs4642 were not associated with VTE risk. 26440977 2015