Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.320 GeneticVariation BEFREE To determine the importance of GLA mutations in the general stroke population, the frequency of GLA mutations in Japanese male ischaemic stroke (IS) patients with various risk factors and ages was measured. 23724928

2014

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.320 GeneticVariation BEFREE Twelve patients had missense GLA mutations: 9 with ischemic stroke (p.R118C: n=4; p.D313Y: n=5), including 5 patients with an identified cause of stroke (cardiac embolism: n=2; small vessel disease: n=2; other cause: n=1), 2 with intracerebral hemorrhage (p.R118C: n=1; p.D313Y: n=1), and one with cerebral venous thrombosis (p.R118C: n=1). 20110537

2010

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.320 Biomarker GENOMICS_ENGLAND Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. 15025684

2004

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.310 AlteredExpression BEFREE Moreover, as activation of δ-opioid receptor by a non-peptidic δ-opioid receptor agonist also modulates the expression, maturation and processing of amyloid precursor protein and β-secretase activity, the potential role of these effects on ischemic stroke caused dementia or Alzheimer's disease are also discussed. 31535637

2020

Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.310 Biomarker GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223

2010

Entrez Id: 9445
Gene Symbol: ITM2B
ITM2B
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.300 Biomarker GENOMICS_ENGLAND A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 10781099

2000

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.300 Biomarker GENOMICS_ENGLAND Cerebrovascular complications in Ehlers-Danlos syndrome type IV. 8526472

1995

Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) is a cerebral small vascular disease caused by NOTCH3 gene mutation in vascular smooth muscle cells (VSMCs), leading to ischemic stroke and vascular dementia. 31376480

2019

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE However, rs4929984 is significantly associated with the diastolic blood pressure level of IS patients (additive model: P<sub>adj</sub> = 0.007; dominant model: P<sub>adj</sub> = 0.013), whereas rs217727 is associated with international normalized ratio (additive model: P<sub>adj</sub> = 0.019; recessive model: P<sub>adj</sub> = 0.004), prothrombin time activity level (additive model: P<sub>adj</sub> = 0.026; recessive model: P<sub>adj</sub> = 0.004), and homocysteine level (recessive model: P<sub>adj</sub> = 0.048) in patients with IS. 31041585

2019

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Conclusions Inherited thrombophilias (factor V Leiden, prothrombin G20210A mutation, protein C deficiency, and protein S deficiency) are associated with an increased risk of arterial ischemic stroke in adults. 31549567

2019

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Conclusions Inherited thrombophilias (factor V Leiden, prothrombin G20210A mutation, protein C deficiency, and protein S deficiency) are associated with an increased risk of arterial ischemic stroke in adults. 31549567

2019

Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cerebral small vascular disease caused by NOTCH3 mutation-induced vascular smooth muscle cell (VSMC) degeneration, leading to ischemic stroke and vascular dementia. 29871518

2018

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Prothrombin G20210A and factor V Leiden polymorphisms tended to have higher ORs for CVT than for ischaemic stroke. 30005273

2018

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Prothrombin G20210A and factor V Leiden polymorphisms tended to have higher ORs for CVT than for ischaemic stroke. 30005273

2018

Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Mutations in NOTCH3 causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebrovascular disease that leads to ischemic strokes and dementia, but in which migraine is often present, sometimes long before the onset of other symptoms. 28271496

2017

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE In contrast, prothrombin-20210-mutations were different playing a significant role in the pathogenesis of cerebral sinus vein thrombosis, but not in arterial ischemic stroke. 28869458

2017

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Association Between the 20210G>A Prothrombin Gene Polymorphism and Arterial Ischemic Stroke in Children and Young Adults-Two Meta-analyses of 3586 Cases and 6440 Control Subjects in Total. 28160964

2017

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE A genetic study of Factor V Leiden (G1691A) mutation in young ischemic strokes with large vessel disease in a South Indian population. 28711293

2017

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Factor V Leiden-mutations were found in 16.8% of patients with cerebral sinus venous thrombosis (CVT) and in 17.8% of patients with arterial ischemic stroke (AIS), which was significantly more frequent than in controls at a rate of 4.95% (ORs: 3.89 and 4.16). 28869458

2017

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, β-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes. 26951304

2016

Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE The main objective of this study was to carry out a meta-analysis for polymorphisms in CRP, EPHX2, FGA, and NOTCH3 genes and the risk for IS. 27266621

2016

Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 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

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 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

Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE CONCLUSIONS NOTCH3 381C>T and 1735T>C polymorphisms were associated with IS and might be the risk factors for IS development, but not NOTCH3 605C>T polymorphism. 27770607

2016

Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.200 GeneticVariation BEFREE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary and progressive small-vessel disease caused by NOTCH3 mutations, pathologically characterized by the degeneration of vascular mural cells, white matter changes, and ischemic strokes. 27241575

2016