Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 9314
Gene Symbol: KLF4
KLF4 		0.010 Biomarker disease BEFREE Tissue-Specific miRNAs Regulate the Development of Thoracic Aortic Aneurysm: The Emerging Role of KLF4 Network. 31623405 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.330 GeneticVariation disease BEFREE Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections. 30101859 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.460 GeneticVariation disease BEFREE Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections. 30101859 2018
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: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.330 GeneticVariation disease BEFREE The implication of mutations in the TGFBR2 gene, known to be involved in cancers, in Marfan syndrome (MFS) and later in Loeys-Dietz syndrome (LDS) and Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) gives a new example of the complexity of one gene involved in multiple diseases. 17935258 2008
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: 2200
Gene Symbol: FBN1
FBN1 		0.460 GeneticVariation disease GWASCAT Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. 27418160 2016
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: 7057
Gene Symbol: THBS1
THBS1 		0.010 Biomarker disease BEFREE Role of Thrombospondin-1 in Mechanotransduction and Development of Thoracic Aortic Aneurysm in Mouse and Humans. 30355232 2018
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: 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: 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: 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: 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: 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: 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: 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: 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
Entrez Id: 100124700
Gene Symbol: HOTAIR
HOTAIR 		0.010 Biomarker disease BEFREE Long Non-coding RNA-mRNA Correlation Analysis Reveals the Potential Role of HOTAIR in Pathogenesis of Sporadic Thoracic Aortic Aneurysm. 28757056 2017
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: 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: 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