|
Cerebrovascular accident
|
|
0.810 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis.
|
27031503 |
2016 |
|
Cerebrovascular accident
|
|
0.810 |
GeneticVariation
|
BEFREE |
In multinomial multivariate adjusted analysis, rs1799963 was exclusively associated with undetermined stroke (OR: 3.67; 95% CI: 1.52-8.85; p = 0.004).
|
25897999 |
2015 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls.
|
19652888 |
2009 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.
|
15059842 |
2004 |
|
Cerebrovascular accident
|
|
0.810 |
SusceptibilityMutation
|
CLINVAR |
Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia.
|
11443298 |
2001 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
BEFREE |
Our findings suggest that the risk of VTE by FHMI is not explained by rs8176719 (ABO), rs6025 (F5), rs1799963 (F2), rs2066865 (FGG), and rs2036914 (F11).
|
31124268 |
2019 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.
|
31676865 |
2019 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
GWASCAT |
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
|
31420334 |
2019 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
GWASCAT |
Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.
|
28373160 |
2017 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
GWASCAT |
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.
|
25772935 |
2015 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
BEFREE |
Factor V Leiden (FVL or rs6025) and prothrombin gene G20210A (PT or rs1799963) are the genetic variants currently tested for VTE risk assessment.
|
25341889 |
2014 |
|
Venous Thromboembolism
|
|
0.730 |
GeneticVariation
|
BEFREE |
Apart from F5 rs6025, ABO rs8176719, rs2519093 and F2 rs1799963, additional common and high VTE-risk SNPs among whites are unlikely.
|
22672568 |
2012 |
|
Ischemic stroke
|
|
0.720 |
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 |
|
Ischemic stroke
|
|
0.720 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Ischemic stroke
|
|
0.720 |
GeneticVariation
|
BEFREE |
We evaluated the differences in the distribution of rs6025 and rs1799963 polymorphisms according to IS subtypes and their interaction with smoking.
|
25897999 |
2015 |
|
Deep Vein Thrombosis
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
Pulmonary Embolism
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.
|
26908601 |
2016 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.
|
23429074 |
2013 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.
|
21349849 |
2011 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.
|
21243428 |
2011 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
HFE polymorphisms affect cellular glutamate regulation.
|
19560233 |
2011 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
|
19554541 |
2009 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
|
19159930 |
2009 |