Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.220 AlteredExpression BEFREE C-type natriuretic peptide (CNP) level is reduced in AS, favoring the formation of calcified aggregates and an increased expression of bone-related transcripts and proteins (Runx2, osteonectin, osteocalcin, alkaline phospahatase). 30878394

2019

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.220 AlteredExpression BEFREE Plasma osteoprotegerin (OPG), a cytokine from the TNF receptor family, correlates with the degree of valve calcification in AS, reflecting the activity of the tissue RANKL/RANK/OPG (receptor activator of nuclear factor κΒ ligand/RANK/osteoprotegerin) axis, and is associated with poorer outcomes in AS. 30266917

2018

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.220 Biomarker RGD Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. 17709640

2007

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.220 AlteredExpression LHGDN Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. 17709640

2007

Entrez Id: 4880
Gene Symbol: NPPC
NPPC
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.220 AlteredExpression BEFREE Distinct downregulation of C-type natriuretic peptide system in human aortic valve stenosis. 17709640

2007

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.220 AlteredExpression BEFREE Myocardial gene expression of TNFalpha was significantly higher in patients with well compensated AS than in patients with decompensated AS (p = 0.017). 15958363

2005

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.220 Biomarker MGD

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE Cessation of gastrointestinal bleeding and anemia after aortic valve intervention for severe aortic stenosis may be attributed not only to recovery of HMW multimers of VWF but also to the disappearance of angiodysplasia. 31378751

2020

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE The Von Willebrand factor is the strongest link between aortic stenosis and bleeding associated with gastrointestinal angiodysplasia. 30009379

2020

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE Acquired loss of the largest von Willebrand factor multimers is a common hemostatic disturbance in patients with aortic valve stenosis (AS), resulting in impaired platelet adhesion and increased bleeding risk. 30722957

2019

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE Although antithrombotic actions of HDL have been described, its effects on ADAMTS-13 and vWF in AVS are unknown. 29443370

2018

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE There has been a lot of scientific inquiry to identify biomarkers in the management of patients with aortic stenosis. von Willebrand factor activity and high molecular weight multimer level assessment has emerged as an excellent biomarker with intraoperative, point of care potential. 29285810

2018

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE Therefore, we recruited N = 31 consecutive patients with severe AS and performed a high-resolution Western blot with densitometrical band quantification to characterize the von Willebrand factor (VWF) multimeric structure and reevaluate the AVWS subtype classification. 29202604

2018

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE Other biomarkers such as von Willebrand factor and microRNAs are promising but further studies are needed to prove their additive value in aortic valve stenosis. 29194051

2018

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker BEFREE In this review, we discuss vWF synthesis and its role in aortic stenosis. 30092557

2018

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 GeneticVariation BEFREE We performed a prospective analysis of periinterventional VWF parameters in 74 patients (80±7years, female in 37.5%) undergoing transfemoral TAVI for severe symptomatic aortic valve stenosis. 28088607

2017

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 GeneticVariation BEFREE Von Willebrand disease-type 2A (VWD-2A) and acquired von Willebrand syndrome (AVWS) due to aortic stenosis (AS) or left ventricular assist device (LVAD) are associated with an increased proteolysis of von Willebrand factor (VWF). 26791163

2016

Entrez Id: 2027
Gene Symbol: ENO3
ENO3
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker RGD Aortic stenosis induces a rapid and drastic decrease in beta-enolase transcript level in cardiomyocytes, followed by the fall in beta-subunit level. 8594891

1995

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.200 Biomarker HPO

Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.110 GeneticVariation BEFREE NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL. 28246602

2017

Entrez Id: 10682
Gene Symbol: EBP
EBP
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.110 Biomarker BEFREE CPX seems useful to identify 1) patients with a low risk of cardiac death and low risk of progression to symptoms from the aortic stenosis, and 2) patients with hemodynamic compromise who improve in functional capacity after AVR. 28552098

2017

Entrez Id: 2626
Gene Symbol: GATA4
GATA4
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.110 Biomarker BEFREE Only 25% of double compound Gata4/Gata5 heterozygotes survive to adulthood and these mice have aortic stenosis. 21839733

2011

Entrez Id: 140628
Gene Symbol: GATA5
GATA5
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.110 Biomarker BEFREE Only 25% of double compound Gata4/Gata5 heterozygotes survive to adulthood and these mice have aortic stenosis. 21839733

2011

Entrez Id: 140628
Gene Symbol: GATA5
GATA5
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.110 Biomarker HPO

Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.110 Biomarker HPO