Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.460 GeneticVariation disease BEFREE Fibrillinopathies include Marfan syndrome, familial ectopia lentis, familial thoracic aneurysm (mutations of FBN1) and congenital contractural arachnodactyly (mutation of FBN2). 22921888 2012
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: 2200
Gene Symbol: FBN1
FBN1 		0.460 GeneticVariation disease GWASCAT 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 GWASDB 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 BEFREE Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections. 30101859 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: 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: 3553
Gene Symbol: IL1B
IL1B 		0.010 Biomarker disease BEFREE Genetic deletion of IL-1β and IL-1R significantly decreased thoracic aortic dilation (IL-1β knockout=54.2±16.8% and IL-1R knockout=62.6±17.2% versus WT TAA=104.7±23.8%; P<0.001for both). 25200056 2014
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: 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: 4015
Gene Symbol: LOX
LOX 		0.020 GeneticVariation disease BEFREE LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 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
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: 8076
Gene Symbol: MFAP5
MFAP5 		0.100 Biomarker disease HPO
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: 693159
Gene Symbol: MIR574
MIR574 		0.010 Biomarker disease BEFREE MiR-574-5p: A Circulating Marker of Thoracic Aortic Aneurysm. 31409059 2019
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: 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: 4318
Gene Symbol: MMP9
MMP9 		0.510 AlteredExpression disease BEFREE However, few studies have assessed serum MMP9 levels in both abdominal aortic aneurysm (AAA) and thoracic aortic aneurysm (TAA). 30373522 2018
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