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 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 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: 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 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 GeneticVariation disease BEFREE Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716 2015
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: 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: 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: 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: 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: 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: 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: 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