Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 70
Gene Symbol: ACTC1
ACTC1
0.310 GermlineCausalMutation disease ORPHANET Alpha-cardiac actin mutations produce atrial septal defects. 17947298 2008
Entrez Id: 345
Gene Symbol: APOC3
APOC3
0.010 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: 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: 477
Gene Symbol: ATP1A2
ATP1A2
0.010 GeneticVariation disease BEFREE We describe the case of one patient with pure sporadic hemiplegic migraine (SHM) with a novel ATP1A2 gene variant and a large patent foramen ovale (PFO) with atrial septal aneurysm. 29867740 2018
Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181
0.010 Biomarker disease BEFREE Tissue Plasminogen Activator to Treat a Stroke after Foam Sclerotherapy in a Woman with a Patent Foramen Ovale. 29402614 2018
Entrez Id: 55349
Gene Symbol: CHDH
CHDH
0.010 GeneticVariation disease BEFREE Thus, the common GATA4 variant S377G is likely to be relatively benign in terms of its participation in CHD and PFO/Stroke. 21673957 2011
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: 10370
Gene Symbol: CITED2
CITED2
0.300 GermlineCausalMutation disease ORPHANET Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 16287139 2005
Entrez Id: 116449
Gene Symbol: CLNK
CLNK
0.010 GeneticVariation disease BEFREE The first randomized clinical trial of patent foramen ovale (PFO) closure for prevention of migraine, the MIST trial, showed negative results. 28283958 2017
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
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: 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: 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: 2152
Gene Symbol: F3
F3
0.010 GeneticVariation disease BEFREE We identified a male Polish patient with a very rare minor homozygous GG genotype of the tissue factor (TF) +5466A>G polymorphism, who within two months experienced a transient ischemic attack (TIA) and ischemic stroke of unknown origin associated with the presence of patent foramen ovale below 40 years of age. 19203804 2011
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: 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: 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: 92579
Gene Symbol: G6PC3
G6PC3
0.010 GeneticVariation disease BEFREE We demonstrate that secundum atrial septal defect, patent ductus arteriosus and valvular defects are the most frequent cardiac anomalies in SCN4. 20717171 2011
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.410 GeneticVariation disease CLINVAR
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.410 GermlineCausalMutation disease ORPHANET A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect. 20347099 2010