Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 Biomarker disease HPO
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		0.110 Biomarker disease HPO
Entrez Id: 8076
Gene Symbol: MFAP5
MFAP5 		0.100 Biomarker disease HPO
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: 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: 2200
Gene Symbol: FBN1
FBN1 		0.460 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: 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: 6283
Gene Symbol: S100A12
S100A12 		0.010 Biomarker disease BEFREE S100A12 is enriched in human thoracic aortic aneurysms and dissections. 22818064 2012
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.020 GeneticVariation disease BEFREE LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 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: 4089
Gene Symbol: SMAD4
SMAD4 		0.020 Biomarker disease BEFREE SMAD4 is as an essential mediator of the transforming growth factor β (TGF-β) signaling pathway, and dysregulated TGF-β signaling is linked with thoracic aortic aneurysms (TAAs). 28716708 2017
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: 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: 49
Gene Symbol: ACR
ACR 		0.010 Biomarker disease BEFREE ACR Appropriateness Criteria<sup>®</sup> Suspected Thoracic Aortic Aneurysm. 29724424 2018
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: 693159
Gene Symbol: MIR574
MIR574 		0.010 Biomarker disease BEFREE MiR-574-5p: A Circulating Marker of Thoracic Aortic Aneurysm. 31409059 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.020 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: 4629
Gene Symbol: MYH11
MYH11 		0.030 GeneticVariation disease BEFREE A new Variant in the MYH11 gene in a Familial case of Thoracic Aortic Aneurysm. 31473177 2020
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.520 AlteredExpression disease BEFREE Additionally, AGT and MMP-2 protein levels in the aorta of ATAA patients were higher (P < 0.01). 25955575 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: 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: 3569
Gene Symbol: IL6
IL6 		0.010 AlteredExpression disease BEFREE Blood and tissue homogenized levels of IL-6 and TNF-α were significantly higher in the AD group than in the AA group (p<0.001). 30088482 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF 		0.010 AlteredExpression disease BEFREE Blood and tissue homogenized levels of IL-6 and TNF-α were significantly higher in the AD group than in the AA group (p<0.001). 30088482 2018
Entrez Id: 5270
Gene Symbol: SERPINE2
SERPINE2 		0.010 AlteredExpression disease BEFREE Both PN-1 and plasminogen activator inhibitor-1 mRNA and proteins were overexpressed in medial tissue extracts and primary VSMC cultures from thoracic aneurysm of the ascending aorta compared with acute ascending aortic dissection and controls. 23814118 2013