Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.420 GeneticVariation disease BEFREE We examined the possible association between the polymorphism of methylenetetrahydrofolate reductase (MTHFR)-C677T and the gene mutation in transforming growth factor beta receptor II (TGFBR2) in a cohort of CCAD patients. 27017342 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.420 GeneticVariation disease BEFREE Mutations in TGFBR2 gene cause spontaneous cervical artery dissection. 21270064 2011
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.120 GeneticVariation disease BEFREE Furthermore, stroke is a well-known complication of several heritable connective tissue disorders, including Marfan's syndrome (FBN1 mutations) and Ehlers-Danlos syndrome type IV (COL3A1 mutations), which predispose to cervical artery dissection, the most frequent cause of cerebral ischemia at young age. 22113147 2012
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
0.120 GeneticVariation disease BEFREE Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. 29216800 2018
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
0.040 GeneticVariation disease BEFREE Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. 28753427 2017
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
0.040 GeneticVariation disease BEFREE A variant in the PHACTR1 gene has been associated with FMD as well as cervical artery dissection and migraine, although less than 5% of cases of FMD are familial. 30285053 2019
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
0.040 GeneticVariation disease BEFREE Recently, certain polymorphisms in the phosphatase and actin regulator 1 (PHACTR1) gene have been shown to be associated with CVD (i.e., coronary artery disease, coronary artery calcification, early onset myocardial infarction, cervical artery dissection and hypertension) in different ethnic groups. 27876132 2016
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
0.040 GeneticVariation disease BEFREE Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. 25420145 2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.030 GeneticVariation disease BEFREE We examined the association between different polymorphisms frequently found in young patients with cryptogenic stroke [methylenetetrahydrofolate reductase (MTHFR) C677T, factor II (prothrombin) G20210A, factor V G1691A (Leiden), nitric oxide synthase 3 (NOS3) intron 4 VNTR, and apolipoprotein E (APOE) epsilon4 gene] in patients with a cerebral infarct caused by spontaneous cervical artery dissection. 20446941 2010
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
0.030 GeneticVariation disease BEFREE We examined the possible association between the polymorphism of methylenetetrahydrofolate reductase (MTHFR)-C677T and the gene mutation in transforming growth factor beta receptor II (TGFBR2) in a cohort of CCAD patients. 27017342 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.030 GeneticVariation disease BEFREE Mutations in fibrillin 1 are the cause of dissecting aneurysm leading to rupture of the ascending aorta. 10885576 2000
Entrez Id: 348
Gene Symbol: APOE
APOE
0.020 GeneticVariation disease BEFREE We examined the association between different polymorphisms frequently found in young patients with cryptogenic stroke [methylenetetrahydrofolate reductase (MTHFR) C677T, factor II (prothrombin) G20210A, factor V G1691A (Leiden), nitric oxide synthase 3 (NOS3) intron 4 VNTR, and apolipoprotein E (APOE) epsilon4 gene] in patients with a cerebral infarct caused by spontaneous cervical artery dissection. 20446941 2010
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.020 GeneticVariation disease BEFREE MMP-9 polymorphisms are not associated with spontaneous cervical artery dissection. 14963289 2004
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
0.010 GeneticVariation disease BEFREE The ICAM-1 E469K gene polymorphism is a risk factor for spontaneous cervical artery dissection. 16636253 2006
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
0.010 GeneticVariation disease BEFREE We examined the association between different polymorphisms frequently found in young patients with cryptogenic stroke [methylenetetrahydrofolate reductase (MTHFR) C677T, factor II (prothrombin) G20210A, factor V G1691A (Leiden), nitric oxide synthase 3 (NOS3) intron 4 VNTR, and apolipoprotein E (APOE) epsilon4 gene] in patients with a cerebral infarct caused by spontaneous cervical artery dissection. 20446941 2010
Entrez Id: 5972
Gene Symbol: REN
REN
0.010 GeneticVariation disease BEFREE Our report offers evidence that mutations in the REN gene could have pathogenic role in arterial dissection. 31371142 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.010 GeneticVariation disease BEFREE We present a young woman whose ACTA2 mutation was ascertained during pregnancy because of her father's history of dissecting aneurysms. 29202781 2017
Entrez Id: 4016
Gene Symbol: LOXL1
LOXL1
0.010 GeneticVariation disease BEFREE Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery dissection. 17690546 2007
Entrez Id: 875
Gene Symbol: CBS
CBS
0.010 GeneticVariation disease BEFREE Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke. 11872884 2002
Entrez Id: 84221
Gene Symbol: SPATC1L
SPATC1L
0.010 GeneticVariation disease BEFREE EGFLAM and SPATC1L may thus be susceptibility loci for true aortic aneurysm and RNASE13 may be such a locus for dissecting aneurysm in Japanese individuals. 28339009 2017
Entrez Id: 1030
Gene Symbol: CDKN2B
CDKN2B
0.010 GeneticVariation disease BEFREE Genome wide association studies suggest that the CDKN2A/CDKN2B locus plays a role in the etiology AD and other arterial diseases. 20155481 2010
Entrez Id: 440163
Gene Symbol: RNASE13
RNASE13
0.010 GeneticVariation disease BEFREE EGFLAM and SPATC1L may thus be susceptibility loci for true aortic aneurysm and RNASE13 may be such a locus for dissecting aneurysm in Japanese individuals. 28339009 2017
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.420 Biomarker disease HPO
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.420 Biomarker disease CTD_human Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 16885183 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.420 Biomarker disease CTD_human Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 16027248 2005