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: 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
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.420 Biomarker disease HPO
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
0.410 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
0.410 Biomarker disease BEFREE Mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2) have recently been associated with hereditary connective tissue disorders with widespread vascular involvement, including arterial dissection. 21270064 2011
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
0.410 Biomarker disease HPO
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.400 Biomarker disease CTD_human Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. 21217753 2011
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.400 Biomarker disease CTD_human Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. 8757037 1996
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.400 Biomarker disease HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.400 Biomarker disease HPO
Entrez Id: 183
Gene Symbol: AGT
AGT
0.320 Biomarker disease BEFREE As the activity of OCG in dissecting aneurysms is not clear, we tested the hypothesis that OCG contributes to angiotensin II (Ang II)-induced dissecting aneurysm (Ang II-induced AAA) in apolipoprotein E knockout mice. 29685509 2018
Entrez Id: 183
Gene Symbol: AGT
AGT
0.320 Biomarker disease BEFREE This hypothesis was partially validated through the live visualization of a dissecting aneurysm that formed during micro-CT imaging, and led us to the conclusion that angiotensin II-infused mice are more clinically relevant for the study of aortic dissections than for the study of abdominal aortic aneurysms. 28898997 2017
Entrez Id: 183
Gene Symbol: AGT
AGT
0.320 Biomarker disease CTD_human NOX1 deficiency protects from aortic dissection in response to angiotensin II. 17502491 2007
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: 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 Biomarker disease HPO
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
0.100 Biomarker disease HPO
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
0.100 Biomarker disease HPO
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
0.100 Biomarker disease HPO
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 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 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