Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.020 GeneticVariation disease BEFREE Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization. 22753406 2012
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		0.010 GeneticVariation disease BEFREE Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. 23554019 2013
Entrez Id: 4054
Gene Symbol: LTBP3
LTBP3 		0.010 GeneticVariation disease BEFREE LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. 29625025 2018
Entrez Id: 633
Gene Symbol: BGN
BGN 		0.010 GeneticVariation disease BEFREE Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. 27632686 2017
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.010 GeneticVariation disease BEFREE We, therefore, investigated the potential relationship between mutations in regions of NOTCH1 recently reported to be associated with bicuspid aortic valve and the phenotype of bicuspid aortic valve and thoracic aortic aneurysms in unrelated patients undergoing surgical repair. 17662764 2007
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: 2316
Gene Symbol: FLNA
FLNA 		0.010 GeneticVariation disease BEFREE Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations. 29334594 2018
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.520 Biomarker disease CTD_human Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms. 16159824 2005
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.520 Biomarker disease BEFREE Expression of BRM and MMP2 in the thoracic aortic aneurysm and aortic dissection is very high, indicating that BRM and MMP2 may play important roles in the occurrence and development of thoracic aortic aneurysm and aortic dissection. 28678310 2017
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.520 Biomarker disease RGD Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model. 20621845 2010
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		0.510 Biomarker disease RGD Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model. 20621845 2010
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		0.510 Biomarker disease CTD_human Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms. 16159824 2005
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.460 Biomarker disease CTD_human Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. 21909107 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.460 Biomarker disease BEFREE Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 Biomarker disease CTD_human Here we show that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD). 17994018 2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 Biomarker disease HPO
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.330 Biomarker disease CTD_human Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 16027248 2005
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.310 Biomarker disease CTD_human TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. 22772371 2012
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.310 Biomarker disease BEFREE The repeated implication of TGFB2 in the development of thoracic aortic aneurysms and dissections suggests that this gene should be considered during genetic diagnosis of this disease. 25046559 2014
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		0.310 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
Entrez Id: 54538
Gene Symbol: ROBO4
ROBO4 		0.300 Biomarker disease CTD_human ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. 30455415 2019
Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17 		0.210 Biomarker disease RGD Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model. 20621845 2010
Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17 		0.210 Biomarker disease BEFREE Cell-Specific Functions of ADAM17 Regulate the Progression of Thoracic Aortic Aneurysm. 29930147 2018
Entrez Id: 102
Gene Symbol: ADAM10
ADAM10 		0.200 Biomarker disease RGD Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model. 20621845 2010
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		0.110 Biomarker disease HPO