Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.330 GeneticVariation disease BEFREE 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 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 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 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 BEFREE Cell-Specific Functions of ADAM17 Regulate the Progression of Thoracic Aortic Aneurysm. 29930147 2018
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: 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 GeneticVariation disease BEFREE Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. 23910461 2013
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		0.110 Biomarker disease HPO
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: 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: 8076
Gene Symbol: MFAP5
MFAP5 		0.100 Biomarker disease HPO
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: 4629
Gene Symbol: MYH11
MYH11 		0.030 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: 4629
Gene Symbol: MYH11
MYH11 		0.030 GeneticVariation disease BEFREE Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. 22968129 2013
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: 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: 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: 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: 4015
Gene Symbol: LOX
LOX 		0.020 GeneticVariation disease BEFREE LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 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: 4015
Gene Symbol: LOX
LOX 		0.020 GeneticVariation disease BEFREE Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016