Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease HPO
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease GENOMICS_ENGLAND Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. 16685658 2006
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease BEFREE Homozygous or compound heterozygous mutations in fibulin-4 (<i>FBLN4</i>) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial tortuosity, and aortic aneurysms. 28508064 2017
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 GeneticVariation disease BEFREE We used a mouse model of postnatal ascending aortic aneurysms ( Fbln4<sup>SMKO</sup>; termed SMKO [SMC-specific knockout]), in which deletion of Fbln4 (fibulin-4) leads to disruption of the elastin-contractile units caused by a loss of elastic lamina-SMC connections. 30355232 2018
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease MGD
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
0.620 Biomarker disease GENOMICS_ENGLAND Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. 17937443 2007
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 GeneticVariation disease BEFREE Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms. 20358619 2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 GeneticVariation disease BEFREE The transforming growth factor beta (TGF-beta) pathway regulates vascular remodeling and mutations in its receptor genes, TGFBR1 and TGFBR2, cause syndromes with thoracic aortic aneurysm (TAA). 19672284 2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 Biomarker disease CTD_human Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 16885183 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 Biomarker disease HPO
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
0.430 GeneticVariation disease LHGDN Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome. 16283890 2005
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE High serum thrombospondin-1 concentration is associated with slower abdominal aortic aneurysm growth and deficiency of thrombospondin-1 promotes angiotensin II induced aortic aneurysm in mice. 28364044 2017
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE Angiotensin II (Ang II) infusion promotes the development of aortic aneurysms and accelerates atherosclerosis in ApoE<sup>-/-</sup> mice. 30048944 2018
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.400 AlteredExpression disease BEFREE The objectives of this study were to identify interrelations between matrix metalloproteinase-2 (MMP2)/MMP9 levels and clinical variables in patients with aortic root/ascending aortic aneurysms and to describe comorbidities as possible biasing factors in the widely discussed correlation of serum MMP levels and aortic diameter. 27659153 2017
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE AAA in male C57BL/6 J mice was induced by coadministration of angiotensin II (Ang II) and 3,4-benzopyrene (BaP). 30614051 2019
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE Mas receptor deficiency augments angiotensin II-induced atherosclerosis and aortic aneurysm ruptures in hypercholesterolemic male mice. 30850299 2019
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE Relevance of angiotensin II-induced aortic pathologies in mice to human aortic aneurysms. 22211965 2011
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease CTD_human Polychlorinated biphenyl 77 augments angiotensin II-induced atherosclerosis and abdominal aortic aneurysms in male apolipoprotein E deficient mice. 21925196 2011
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE Expression of GFP was localized to macrophages in atherosclerotic plaques and in angiotensin II-induced aortic aneurysms and correlated with galectin 3 and mCD68 expression. 27908893 2017
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 PosttranslationalModification disease BEFREE Inflammasome activation by mitochondrial oxidative stress in macrophages leads to the development of angiotensin II-induced aortic aneurysm. 25378412 2015
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE Angiopoietin-2 attenuates angiotensin II-induced aortic aneurysm and atherosclerosis in apolipoprotein E-deficient mice. 27767064 2016
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.400 GeneticVariation disease LHGDN A single nucleotide polymorphism in the matrix metalloproteinase 9 gene (-8202A/G) is associated with thoracic aortic aneurysms and thoracic aortic dissection. 16678588 2006
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE Murine BM-MSCs, MSCs-CM or control medium were intravenously administrated into AngII-induced AA in apoE<sup>-/-</sup> mice. 31583844 2019
Entrez Id: 183
Gene Symbol: AGT
AGT
0.400 Biomarker disease BEFREE In particular, the infusion of angiotensin II (Ang II) in the apolipoprotein E-deficient mice (apoE-/-) and low density lipoprotein receptor knockout mice (LDLR-/-) to induce aortic aneurysm has been extensively used in the field. 28500602 2017
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.400 AlteredExpression disease BEFREE Expression levels of ADAMTS‑7 and matrix metalloproteinase‑9 were significantly increased in the AA group, as detected by immunohistochemistry (P<0.05). 28849199 2017