Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.430 Biomarker disease BEFREE We studied NKX2-5 with respect to the presence or absence of PFO in stroke patients. 19464101 2009
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.430 GeneticVariation disease BEFREE Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. 27752029 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.430 GeneticVariation disease BEFREE We sought to examine the importance of mutations in the cardiac transcription factor gene NKX2-5 in patients with an atrial septal defect (ASD), patent foramen ovale (PFO), or hypoplastic left heart syndrome (HLHS). 12798584 2003
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.410 GeneticVariation disease BEFREE In an initial study of Australian subjects, we observed a weak association between GATA4 S377G and PFO/Stroke relative to Caucasian controls in whom ASD and PFO had been excluded (OR = 2.16; p = 0.02). 21673957 2011
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
0.310 GeneticVariation disease BEFREE Our results provide the first evidence of a pathogenic mutation in the ACTC1 3'UTR that may be associated with familial isolated ASDII. 27139165 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 GeneticVariation disease BEFREE Pulmonary valve stenosis and atrial septal defect, ostium secundum type, were significantly associated with the identification of a mutation in the PTPN11 gene. 17515436 2007
Entrez Id: 2153
Gene Symbol: F5
F5
0.040 GeneticVariation disease BEFREE Pregnancy and factor V Leiden carriership are associated with increased risk of venous thromboembolism and the association between PFO and atrial septal aneurysm is a strong risk factor for systemic embolisation. 14966073 2004
Entrez Id: 2153
Gene Symbol: F5
F5
0.040 Biomarker disease BEFREE Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovale. 12695749 2003
Entrez Id: 2147
Gene Symbol: F2
F2
0.040 GeneticVariation disease BEFREE Across the population the presence of the FII G20210A mutation (OR: 2.97;95% CI: 1.32-6.69), a history of DVT (OR: 1.04; 95% CI: 1.02-1.06), and oestrogen-containing contraceptive therapy (OR: 1.14; 95% CI: 1.09-1.18) were all associated with stroke of unknown cause after adjustment for other risk factors, This was not the case with PFO. 22909823 2012
Entrez Id: 2147
Gene Symbol: F2
F2
0.040 GeneticVariation disease BEFREE Three different polymorphisms located in the prothrombin, F2 (20210G/A), and apolipoprotein-C3 (-641A/C and -455T/A) genes were significantly associated with ICVD and PFO. 22784820 2013
Entrez Id: 2153
Gene Symbol: F5
F5
0.040 GeneticVariation disease BEFREE After adjustment for other vascular risk factors, the combination of either factor V Leiden or prothrombin G20210A and PFO was associated with a 4.7-fold (95% CI=1.4 to 16.1; P=0.008) increased risk of cerebral ischemia in young patients. 17525392 2007
Entrez Id: 2147
Gene Symbol: F2
F2
0.040 GeneticVariation disease BEFREE After adjustment for other vascular risk factors, the combination of either factor V Leiden or prothrombin G20210A and PFO was associated with a 4.7-fold (95% CI=1.4 to 16.1; P=0.008) increased risk of cerebral ischemia in young patients. 17525392 2007
Entrez Id: 2153
Gene Symbol: F5
F5
0.040 GeneticVariation disease BEFREE We comprehensively sought and identified studies of the association of both the factor V Leiden (FV(G1691A) mutation) and the prothrombin mutation (PT(G20210A) mutation) with PFO-related cerebral ischaemia and did meta-analyses to assess the evidence for such a relation. 19404532 2009
Entrez Id: 2147
Gene Symbol: F2
F2
0.040 GeneticVariation disease BEFREE We comprehensively sought and identified studies of the association of both the factor V Leiden (FV(G1691A) mutation) and the prothrombin mutation (PT(G20210A) mutation) with PFO-related cerebral ischaemia and did meta-analyses to assess the evidence for such a relation. 19404532 2009
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.030 Biomarker disease BEFREE Twenty-one cases of infective endocarditis after atrial defect device closure have been reported in the literature (13 ostium secundum ASD and 8 patent foramen ovale).Seven pediatric cases were reported. 27641431 2017
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.030 Biomarker disease BEFREE However, in a follow up study of German Caucasians no association was found with either PFO or ASD. 21673957 2011
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.030 Biomarker disease BEFREE Conscious sedation for transcatheter implantation of ASO is a feasible, safe, and efficient technique, allowing successful PFO and ASD closure in the majority of patients. 29131286 2018
Entrez Id: 64805
Gene Symbol: P2RY12
P2RY12
0.020 Biomarker disease BEFREE After finding that the thienopyridines clopidogrel and prasugrel reduced migraine headache (MHA) symptoms in some patients with patent foramen ovale (PFO), this small pilot study was undertaken to determine whether ticagrelor, a nonthienopyridine P2Y12 inhibitor, would have similar MHA effects and might be better suited for a future randomized trial. 30478067 2018
Entrez Id: 64805
Gene Symbol: P2RY12
P2RY12
0.020 Biomarker disease BEFREE Successful P2Y12 platelet inhibition seemed to reduce MHA symptoms in some patients with PFO, suggesting a platelet-based mechanism/trigger. 30478066 2018
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.020 GeneticVariation disease BEFREE Significantly more frequent prevalence of PFO in migraine patients with aura (with homozygous recessive genotype of MTHFR probably suggests their common genetic basis. 23161188 2013
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.020 GeneticVariation disease BEFREE This study investigated if in uncomplicated hypertensive subjects (HTs) with isolated PFO and H-Hcys, a different MTHFR polymorphism pattern for C667→T gene mutation could influence PFO management and to reduce the CV risk. 20696177 2010
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.010 Biomarker disease BEFREE When c-TTE and/or c-TCD were used, the rate of residual RLSs detected in patients who underwent PFO closure was 26.32%, which was significantly different than the rate detected using TEE (P < .05)c-TTE and c-TCD showed equivalent sensitivity in evaluating transcatheter closure of a PFO. c-TTE could be a more cost-effective and reliable method to detect the residual shunt after PFO closure. 30681631 2019
Entrez Id: 23530
Gene Symbol: NNT
NNT
0.010 Biomarker disease BEFREE NNT for stroke was 37 and NNH for AF 49, indicating a net clinical benefit of PFO closure. 29644412 2018
Entrez Id: 53407
Gene Symbol: STX18
STX18
0.010 GeneticVariation disease BEFREE However, a region on chromosome 4p16, adjacent to the MSX1 and STX18 genes, was associated (P = 9.5 × 10⁻⁷) with the risk of ostium secundum atrial septal defect (ASD) in the discovery cohort (N = 340 cases), and this association was replicated in a further 417 ASD cases and 2,520 controls (replication P = 5.0 × 10⁻⁵; odds ratio (OR) in replication cohort = 1.40, 95% confidence interval (CI) = 1.19-1.65; combined P = 2.6 × 10⁻¹⁰). 23708191 2013
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.010 GeneticVariation disease BEFREE We assessed the occurrence of several prothrombotic states (factor V Leiden, prothrombin G20210A, deficiencies in protein S, protein C and antithrombin, lupus anticoagulant, anticardiolipin antibodies, elevated factor VIII, resistance to activated protein C) and classical risk factors for venous thrombosis in 57 adult patients with cryptogenic stroke and patent foramen ovale and in 104 matched controls. 12695749 2003