VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206692
Disease: Carcinoma, Lobular
Carcinoma, Lobular
0.010 AlteredExpression disease BEFREE Patients with ILC had higher VWF RNA expression than patients with infiltrating ductal carcinoma and other histology. 31018945 2019
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency
0.010 GeneticVariation disease BEFREE In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). 31028847 2019
CUI: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual
0.010 AlteredExpression phenotype BEFREE We used biochemical methods to assess microvessel density (level of von Willebrand factor, a marker of endothelial cell content), ante-mortem oxygenation (vascular endothelial growth factor, a marker of tissue hypoxia; myelin-associated glycoprotein to proteolipid protein-1 ratio, a measure of tissue oxygenation relative to metabolic demand), cholinergic innervation (acetylcholinesterase and choline acetyltransferase), butyrylcholinesterase and insoluble α-synuclein content in the BA18 and BA19 occipital cortex obtained post-mortem from 23 AD patients who had experienced visual hallucinations, 19 AD patients without hallucinations, 19 DLB patients, and 36 controls. 31511061 2019
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
0.010 Biomarker group BEFREE Statistical analysis showed that loss of VWF-HMWM as assessed by VWF:CB < 70 IU/dL is associated with detectable anti-ADAMTS13 antibodies, severe neurological symptoms and thrombocytopenia (p < 0.05). 31330376 2019
CUI: C0241868
Disease: acute aortic dissection
acute aortic dissection
0.010 AlteredExpression disease BEFREE This report showed that patients with acute aortic dissection had increased levels of VWF:GPIbM before surgery that decreased slightly during surgery. 31030033 2019
CUI: C0264774
Disease: Mitral and aortic incompetence
Mitral and aortic incompetence
0.010 Biomarker disease BEFREE Loss of the highest-molecular-weight multimers of VWF and bleeding also have been described in subaortic stenosis in hypertrophic cardiomyopathy, in isolated mitral and aortic insufficiency, in endocarditis, in patients with prosthetic valve stenosis or regurgitation, and in patients with left ventricular assist devices (LVADs). 31230737 2019
CUI: C0267941
Disease: Pancreatitis, Acute Necrotizing
Pancreatitis, Acute Necrotizing
0.010 AlteredExpression disease BEFREE Lungs from the ANP mice showed increased expression of IL-6, IL-10, monocyte chemoattractant protein 1 (MCP-1) and von Willebrand factor compared to those from the controls. 31037357 2019
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
0.010 Biomarker disease BEFREE However, while the effect of the <i>ABO</i> locus on Col-Epi phenotype is mediated through VWF and/or FVIII, the effect of the <i>ABO</i> locus on Col-ADP phenotype is partly produced through VWF and/or FVIII, and partly through other mechanisms. 31262040 2019
CUI: C0272325
Disease: Factor 8 deficiency, acquired
Factor 8 deficiency, acquired
0.010 GeneticVariation disease BEFREE They are more commonly directed against factor VIII (FVIII) or von Willebrand factor leading to acquired hemophilia A or acquired von Willebrand syndrome, respectively. 31808848 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE Correlation of Preoperative Von Willebrand Factor with Magnetic Resonance Imaging Perfusion and Permeability Parameters as Predictors of Prognosis in Glioblastoma. 30312827 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 Biomarker disease BEFREE Correlation of Preoperative Von Willebrand Factor with Magnetic Resonance Imaging Perfusion and Permeability Parameters as Predictors of Prognosis in Glioblastoma. 30312827 2019
CUI: C0302280
Disease: Adrenogenital Syndrome
Adrenogenital Syndrome
0.010 GeneticVariation disease BEFREE In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). 31028847 2019
Amputated structure (morphologic abnormality)
0.010 GeneticVariation phenotype BEFREE <i>Columba livia</i> (pigeon) ADAMTS13 (pADAMTS13) resembles human delT3-6, retains normal activation by VWF D4, and has a SAXS envelope consistent with amputation of the hairpin containing the dispensable T domains of human ADAMTS13. 30692120 2019
CUI: C0340288
Disease: Stable angina
Stable angina
0.010 AlteredExpression disease BEFREE Serum PTX-3, vWf and CXCL13 levels were significantly higher in USAP group than those in either SAP or control groups (p˂0.001). 31066256 2019
CUI: C0341439
Disease: Chronic liver disease
Chronic liver disease
0.010 Biomarker group BEFREE Systematic review: role of elevated plasma von-Willebrand factor as predictor of mortality in patients with chronic liver disease. 31498279 2019
CUI: C0341858
Disease: Endometriosis of uterus
Endometriosis of uterus
0.010 AlteredExpression disease BEFREE The staining level of vWF and two pro-angiogenic markers (NF-κB nuclear p65 and TF) correlated with AUB in patients with adenomyosis. 31504506 2019
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome
0.010 AlteredExpression disease BEFREE The expression levels of CD31 and VWF in alveolar wall cells in the OS group were lower than those in the OS+BMSC group. 31702032 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 GeneticVariation phenotype BEFREE We describe a patient with a novel homozygous likely pathogenic missense variant c.1079A>C (p.Tyr360Ser) who presents with chronically low Factor VIII (FVIII) and von Willebrand Factor (vWF) levels and activities in addition to the previously reported symptoms of developmental delay and seizures. 30701557 2019
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
0.010 Biomarker disease BEFREE After adjusting for cardiac risk factors, AVC progression was not independently associated with decreasing FMD% or increasing biomarkers [OR FMD% 1.105 (0.835, 1.463), CRP 1.014 (0.849, 1.210), vWF% 1.132 (0.559, 2.292), PAI 1.124 (0.960, 1.316), fibrinogen 0.909 (0.338, 2.443), IL6 1.061 (0.772, 1.459), E-selectin 0.794 (0.426, 1.480) and ICAM-1 0.998 (0.476, 2.092)]. 30529828 2019
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
0.010 GeneticVariation disease BEFREE We found VWF rs1063856 (OR = 1.50, 95% CIs = 1.10-2.04; p = 0.010), IL-6 rs1800796 (OR = 1.32, 95% CIs = 1.11-1.56; p = 0.002), TNF rs1800629 (OR = 1.44, 95% CIs = 1.13-1.83; p = 0.003), and CRP rs2794521 (OR = 1.27, 95% CIs = 1.04-1.55; p = 0.021) were all significantly associated with increased susceptibility of OSA, while VWF rs1063856 (OR = 1.75, 95% CIs = 1.18-2.62; p = 0.006), IL-6 rs1800796 (OR = 1.39, 95% CIs = 1.10-1.76; p = 0.006) were associated with the severity of OSA. 31210414 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 GeneticVariation disease BEFREE We describe a patient with a novel homozygous likely pathogenic missense variant c.1079A>C (p.Tyr360Ser) who presents with chronically low Factor VIII (FVIII) and von Willebrand Factor (vWF) levels and activities in addition to the previously reported symptoms of developmental delay and seizures. 30701557 2019
CUI: C0578575
Disease: Dissection of proximal aorta
Dissection of proximal aorta
0.010 Biomarker disease BEFREE The aim of the present study was to analyze VWF activity (VWF:GPIbM) and thus the potential of Factor (F) VIII/VWF concentrate as a treatment for refractory bleeding in surgery for acute type A aortic dissection. 31030033 2019
CUI: C0600502
Disease: Vascular Hemostatic Disorders
Vascular Hemostatic Disorders
0.010 GeneticVariation group BEFREE These cause excessive cleavage of VWF multimers resulting in a loss of HMW multimers, known as acquired von Willebrand syndrome (AVWS), a hemostatic disorder similar to VWD type 2A. 30867356 2019
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
0.010 Biomarker phenotype BEFREE In contrast, VWF:Ag and the VWF:Ag/ADAMTS13:AC ratio were significantly lower in patients with SD, PR, and CR than in those with PD (<i>P <</i> 0.05 for both). 31139312 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE For newly-diagnosed breast cancer, the association between VWF and histology in the GDC Breast Cancer dataset in The Cancer Genome Atlas (TCGA) was evaluated. 31018945 2019