×
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