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: 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: 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: 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 Biomarker disease CTD_human Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms. 16159824 2005
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: 5579
Gene Symbol: PRKCB
PRKCB 		0.010 Biomarker disease LHGDN Differential protein kinase C isoform abundance in ascending aortic aneurysms from patients with bicuspid versus tricuspid aortic valves. 17846295 2007
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 6283
Gene Symbol: S100A12
S100A12 		0.010 Biomarker disease BEFREE S100A12 is enriched in human thoracic aortic aneurysms and dissections. 22818064 2012