Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.040 GeneticVariation disease BEFREE Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection. 24743685 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.040 GeneticVariation disease BEFREE FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection. 20082464 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.040 GeneticVariation disease BEFREE FBN1 mutations can also cause other phenotypes, such as ectopia lentis (EL) and familial isolated thoracic aortic aneurysm and dissection (FAA). 11826022 2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.040 GeneticVariation disease BEFREE A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
Entrez Id: 406991
Gene Symbol: MIR21
MIR21
0.010 Biomarker disease BEFREE MicroRNA-21 Knockout Exacerbates Angiotensin II-Induced Thoracic Aortic Aneurysm and Dissection in Mice With Abnormal Transforming Growth Factor-β-SMAD3 Signaling. 29519942 2018
Entrez Id: 4321
Gene Symbol: MMP12
MMP12
0.010 Biomarker disease BEFREE MMP12 is a protease known to be involved in both aortic aneurysm and dissection. 29930143 2018
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 Biomarker disease BEFREE MicroRNA-21 Knockout Exacerbates Angiotensin II-Induced Thoracic Aortic Aneurysm and Dissection in Mice With Abnormal Transforming Growth Factor-β-SMAD3 Signaling. 29519942 2018
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
0.010 GeneticVariation disease BEFREE Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype. 29544503 2018
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3
0.010 Biomarker disease BEFREE Critical Role of ADAMTS-4 in the Development of Sporadic Aortic Aneurysm and Dissection in Mice. 28955046 2017
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4
0.010 Biomarker disease BEFREE Critical Role of ADAMTS-4 in the Development of Sporadic Aortic Aneurysm and Dissection in Mice. 28955046 2017
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.010 Biomarker disease BEFREE A Functional Variant of SMAD4 Enhances Thoracic Aortic Aneurysm and Dissection Risk through Promoting Smooth Muscle Cell Apoptosis and Proteoglycan Degradation. 28666732 2017
Entrez Id: 4015
Gene Symbol: LOX
LOX
0.010 GeneticVariation disease BEFREE Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
0.010 GeneticVariation disease BEFREE We demonstrate that TGFB3 mutations are associated with significant cardiovascular involvement, including thoracic/abdominal aortic aneurysm and dissection, and mitral valve disease. 25835445 2015
Entrez Id: 3280
Gene Symbol: HES1
HES1
0.010 Biomarker disease BEFREE NICD and Hes1 were also detected in most fibroblasts and macrophages that accumulated in the aortic wall of DTAAD patients. 23300792 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.010 GeneticVariation disease BEFREE Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation. 21324918 2011
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 GeneticVariation disease BEFREE Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. 21288906 2011
Entrez Id: 1950
Gene Symbol: EGF
EGF
0.010 GeneticVariation disease BEFREE A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995