|
STROKE, ISCHEMIC, SUSCEPTIBILITY TO
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Hereditary factor II deficiency disease
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Fetal Growth Retardation
|
|
0.010 |
GeneticVariation
|
BEFREE |
A combination of alleles G of rs1799963, A of rs6046, and G of rs1800790 (OR = 0.31) reduces the risk of FGR.
|
28544373 |
2017 |
|
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 |
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.
|
8696333 |
1996 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.
|
11874997 |
2002 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.
|
9462220 |
1997 |
|
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 |
|
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 |
|
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 |
|
Thrombophilia
|
|
0.040 |
GeneticVariation
|
BEFREE |
Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of protein C-, protein S- and antithrombin deficiency, factor 5 (F5: rs6025), factor 2 (F2: rs1799963), even more pronounced when combined inherited thrombophilias [IT] were involved.
|
28010922 |
2017 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Can maximum ouabain-sensitive 86Rb+ uptake rate be obtained by increasing Na+ influx?
|
2429850 |
1986 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium?
|
11904676 |
2002 |
|
THROMBOPHILIA DUE TO THROMBIN DEFECT
|
|
0.700 |
CausalMutation
|
CLINVAR |
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells.
|
21243428 |
2011 |
|
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
|
GWASCAT |
Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.
|
28373160 |
2017 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |