Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 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: 6910
Gene Symbol: TBX5
TBX5
0.100 CausalMutation disease CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
0.100 Biomarker disease HPO
Entrez Id: 6135
Gene Symbol: RPL11
RPL11
0.100 Biomarker disease HPO
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
0.100 Biomarker disease HPO
Entrez Id: 23118
Gene Symbol: TAB2
TAB2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671 2018
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: 57057
Gene Symbol: TBX20
TBX20
0.300 GermlineCausalMutation disease ORPHANET A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. 19762328 2010
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: 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: 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: 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: 2627
Gene Symbol: GATA6
GATA6
0.400 GermlineCausalMutation disease ORPHANET A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719 2010
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.400 Biomarker disease HPO
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: 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
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