Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 49
Gene Symbol: ACR
ACR 		0.010 Biomarker disease BEFREE ACR Appropriateness Criteria<sup>®</sup> Suspected Thoracic Aortic Aneurysm. 29724424 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 GeneticVariation disease BEFREE Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report. 30526509 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 GeneticVariation disease BEFREE In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGFβR1, TGFβR2 and ACTA2 genes. 24793577 2014
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: 59
Gene Symbol: ACTA2
ACTA2 		0.430 GeneticVariation disease BEFREE Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716 2015
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.020 GeneticVariation disease BEFREE Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. 21288906 2011
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: 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: 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: 183
Gene Symbol: AGT
AGT 		0.020 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: 183
Gene Symbol: AGT
AGT 		0.020 Biomarker disease BEFREE Elevated Plasma Levels of LDL Cholesterol Promote Dissecting Thoracic Aortic Aneurysms in Angiotensin II-Induced Mice. 29197606 2018
Entrez Id: 91526
Gene Symbol: ANKRD44
ANKRD44 		0.100 GeneticVariation disease GWASCAT Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. 27418160 2016
Entrez Id: 101927547
Gene Symbol: ANKRD44-IT1
ANKRD44-IT1 		0.100 GeneticVariation disease GWASCAT Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. 27418160 2016
Entrez Id: 93663
Gene Symbol: ARHGAP18
ARHGAP18 		0.010 Biomarker disease BEFREE ARHGAP18 Protects Against Thoracic Aortic Aneurysm Formation by Mitigating the Synthetic and Proinflammatory Smooth Muscle Cell Phenotype. 28701309 2017
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: 100048912
Gene Symbol: CDKN2B-AS1
CDKN2B-AS1 		0.100 GeneticVariation disease GWASCAT Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. 27418160 2016
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.020 GeneticVariation disease BEFREE Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure. 26724508 2016
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.020 Biomarker disease BEFREE Background Thoracic aortic aneurysm ( TAA ) and dissection ( TAD ) are characterized by progressive disorganization of the aortic wall matrix, including elastin, a highly immunogenic molecule. 30957625 2019
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 GeneticVariation disease GWASCAT Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. 27418160 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.460 GeneticVariation disease BEFREE In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGFβR1, TGFβR2 and ACTA2 genes. 24793577 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.460 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 		0.460 Biomarker disease BEFREE Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013