Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.310 Biomarker BEFREE Increased levels of S100A12 and activated matrix metalloproteinase 2/9 (MMP-2/9) produced by human aortic smooth muscle cells (HASMCs) have recently implicated in the development of thoracic aortic disease. 28816402

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 GeneticVariation BEFREE This difference might influence the characteristic aortic disease in Marfan syndrome associated with FBN-1 mutations. 30905418

2020

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 Biomarker BEFREE Focus was placed on the aorta, since aortic disease is life threatening in the Marfan syndrome and fibrillin-1 green fluorescence was most abundant in this tissue. 31251835

2019

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 GeneticVariation BEFREE Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. 28941062

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 Biomarker BEFREE Furthermore, SMCs cannot generate force without connections to the extracellular matrix through focal adhesions, and mutations in the major protein in the extracellular matrix, fibrillin-1, linking SMCs to the matrix also cause thoracic aortic disease in individuals with Marfan syndrome. 27879251

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 GeneticVariation BEFREE We found that patients with a FBN1 truncating or splicing mutation were more prone to developing severe aortic disease or valvular disease. 27611364

2016

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 GeneticVariation BEFREE Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642

2013

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 GeneticVariation BEFREE We determined signs of descending aortic disease before disease onset in mice with a mutation in the fibrillin 1 gene (Fbn1(+/C1039G)), a validated mouse model of disease susceptibility and progression of aortic aneurysm of MFS. 22105919

2012

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 Biomarker BEFREE This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD. 21909107

2011

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.090 GeneticVariation BEFREE In the probands with aortic diseases in young who cannot be diagnosed with MFS, mutations other than FBN1 mutations accounted for at least one-third of all causes of aortic disease. 20354336

2010

Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.040 GeneticVariation BEFREE An MYLK missense variant segregated with aortic disease over five generations but decreases MYLK kinase acitivity marginally. 29925964

2019

Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.040 Biomarker BEFREE Aortic smooth muscle contains limiting amounts of myosin light chain kinase (MLCK) for myosin regulatory light chain (RLC) phosphorylation and contraction that predisposes to thoracic aortic disease in humans containing heterozygous loss-of-function mutations in MYLK. 29494672

2018

Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.040 Biomarker BEFREE Movement of the myosin motor domain is controlled by phosphorylation of the regulatory light chain on the myosin filament, and loss-of-function mutations in the dedicated kinase for this phosphorylation, myosin light chain kinase (MYLK) also predispose to thoracic aortic disease. 27879251

2017

Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.040 GeneticVariation BEFREE We sought to characterize the aortic disease and the presence of other vascular abnormalities in FTAAD caused by a deletion in MYLK and to compare thoracic aortic diameter and stiffness in mutation carriers and non-carriers. 27586135

2016

Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE To assess how LOX mutations modify protein function and lead to aortic disease, we studied the factors that influence the onset and progression of vascular aneurysms in mice bearing a Lox mutation (p.M292R) linked to aortic dilation in humans. 31211696

2019

Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE ACTA2 and MYH11 mutations are predicted or have been shown to disrupt this cyclic interaction predispose to thoracic aortic disease. 27879251

2017

Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 Biomarker BEFREE Deficient circumferential growth is the predominant mechanism for moderate obstructive aortic disease resulting from partial elastin deficiency. 28254817

2017

Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 Biomarker BEFREE These data suggest that a missense mutation in LOX is associated with aortic disease in humans, likely through insufficient cross-linking of elastin and collagen in the aortic wall. 27432961

2016

Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE These data, along with previous studies showing that the deficiency of LOX in mice or inhibition of lysyl oxidases in turkeys and rats causes aortic dissections, support the conclusion that rare genetic variants in LOX predispose to thoracic aortic disease. 26838787

2016

Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE LDS type 4 is caused by mutations in TGFβ ligand 2 (TGFB2) and based on the family pedigrees described to date, appears to have a milder clinical phenotype, often presenting with isolated aortic disease. 27782106

2016

Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE These data suggest that a missense mutation in LOX is associated with aortic disease in humans, likely through insufficient cross-linking of elastin and collagen in the aortic wall. 27432961

2016

Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE Aortic disease, management, and outcome associated with the first aortic event (aortic dissection or aneurysm repair) were abstracted from the medical records of 277 individuals with 41 various ACTA2 mutations. 25759435

2015

Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 Biomarker BEFREE As the resulting protein is unlikely functional and by considering data from the literature, we support the notion that functional haploinsufficiency for TGF-β2 predisposes to thoracic aortic disease. 24193348

2014

Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. 25046559

2014

Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.030 GeneticVariation BEFREE Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and dissections (TAAD), but only half of mutation carriers have aortic disease. 19409525

2009