Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
0.010 Biomarker disease BEFREE Cutoff values of BNP, E/e', and left atrial appendage flow velocity capable of distinguishing CS without large PFO from noncardioembolic stroke were 65.0 pg/mL (sensitivity 55.3%; specificity 70.9%), 13.0 (45.5%; 68.0%), and 46.0 cm/s (37.1%; 87.5%), respectively. 31694016 2019
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.410 GermlineCausalMutation disease ORPHANET GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 12845333 2003
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.300 Biomarker disease CTD_human Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914 2006
Entrez Id: 4487
Gene Symbol: MSX1
MSX1
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: 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: 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: 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: 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: 5973
Gene Symbol: RENBP
RENBP
0.010 GeneticVariation disease BEFREE Migraine, particularly with aura, is an independent risk factor for IS, and the patient's IS risk is probably affected by other individual risk factors (e.g., age, genetic predisposition to thrombosis, presence of patent foramen ovale or enhanced platelet aggregation) which seem to be over-represented in migraine patients. 18545887 2008
Entrez Id: 4624
Gene Symbol: MYH6
MYH6
0.600 Biomarker disease CTD_human Mutation in myosin heavy chain 6 causes atrial septal defect. 15735645 2005
Entrez Id: 4624
Gene Symbol: MYH6
MYH6
0.600 GermlineCausalMutation disease ORPHANET Mutation in myosin heavy chain 6 causes atrial septal defect. 15735645 2005
Entrez Id: 7092
Gene Symbol: TLL1
TLL1
0.300 GermlineCausalMutation disease ORPHANET Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD. 18830233 2009
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: 1482
Gene Symbol: NKX2-5
NKX2-5
0.430 GermlineCausalMutation disease ORPHANET Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.410 GermlineCausalMutation disease ORPHANET Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
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: 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: 7450
Gene Symbol: VWF
VWF
0.010 Biomarker disease BEFREE Purported mechanisms for migraine-associated stroke include involvement of the vasculature (including vasospasm, arterial dissection and small vessel arteriopathy), hypercoagulability (elevated von Willebrand Factor, platelet activation) and elevated risk of cardioembolism (patent foramen ovale, atrial septal aneurysm). 16097850 2005
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: 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: 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: 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: 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: 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: 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