Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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: 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: 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: 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: 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: 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
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 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 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 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: 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 Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716 2015
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: 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: 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: 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