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: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE We have analyzed a type IIB and a type I von Willebrand disease family for the presence of mutations in the region coding for the glycoprotein Ib binding domain of the von Willebrand factor. 8134377 1994
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Clear cosegregation of the VWD type 1 and a specific VWF allele was observed in one family and was likely in the family of two other pro-bands. 10494765 1999
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE The stabilin-2 variant p.E2377K significantly decreased stabilin-2 expression and impaired VWF endocytosis in a heterologous expression system, and common STAB2 variants associated with plasma VWF levels in type 1 von Willebrand disease patients. 30124466 2018
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Patients with Type 1 von Willebrand disease (VWD) have reduced amounts of von Willebrand factor (VWF) in their blood. 30735311 2019
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE In contrast, our understanding of the molecular pathogenesis of the most common form of VWD, type 1 disease, is still at an early stage, with preliminary evidence that this phenotype involves a complex interplay between environmental factors and the influence of genetic variability both within and outside of the VWF locus. 23406206 2013
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques. 17488667 2007
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Our aim was to determine whether there was genetic linkage to the VWF gene in 31 Swedish type 1 VWD families. 16359504 2005
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE To see if there is an association between the von Willebrand factor genotype, the laboratory profile, and the severity of the clinical symptoms we did a genetic analysis of four families with type I von Willebrand's disease. 8096943 1993
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE These studies show that cultured umbilical vein endothelial cells can be used to explore the molecular defects in type I and perhaps other forms of vWD, and suggest that at least some forms of type I vWD are caused by diminished mRNA transcription or subsequent translation due to a defective vWF allele. 2317558 1990
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE This strongly suggests that type I vWD Vicenza is due to a mutation in one of the vWF alleles, which results in an abnormal vWF molecule that is processed to a lesser extent than normal vWF. 8456430 1993
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Family-based association analysis on kindreds with type 1 VWD demonstrated an excess transmission of VNTR 6 to unaffected individuals (P = .0096) and an association of this allele with increased VWF:RCo (P = .029).CLEC4M-Fc bound to VWF. 23529928 2013
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE We report an altered splicing process induced by a silent substitution (c.7056C>T) in the von Willebrand factor gene in a case of type 1 von Willebrand disease originally classified as lacking von Willebrand factor mutations. 21393328 2011
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE We identified a heterozygous silent mutation, c.7464C>T, in exon 44 of the von Willebrand factor (VWF) gene in a family with type 1 von Willebrand disease. 27543438 2016
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE A plasma sample from 49 patients previously diagnosed with VWD (type 1; type 2A, type 2M, type 2B) through phenotype and VWF (von Willebrand factor) analysis and 15 healthy controls was analysed. 28980759 2018
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. 19566550 2009
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE In order to better characterize the genotype-phenotype correlation in type 2M von Willebrand disease (VWD), we sequenced the coding region for the mature subunit of the von Willebrand factor (VWF) gene (exons 18-52, including exon/intron boundaries) in 16 index cases originally submitted to the Canadian Type 1 VWD Study as type 1 VWD, but reclassified as type 2M VWD on the basis of phenotype (excessive mucocutaneous bleeding and von Willebrand factor: antigen (VWF:Ag) and/or von Willebrand factor: ristocetin cofactor (VWF:RCo) between 0.05 and 0.50 IU mL(-1) on at least two occasions and RCo/Ag ratio < 0.6 and no loss of high molecular weight multimers). 17596142 2007
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease. 11529461 2001
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Carriers of a heterozygous missense mutation in the VWFpp region (D1-D2 domain) of the VWF gene may present mild VWD type 1 and show a typical multimeric pattern with a heavy predominance of VWF dimers. 19506357 2009
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Mutations in the VWF gene were previously known or newly identified in most patients with types 2A (n = 15 of 15), 2M (n = 15 of 21), and 2N (n = 4 of 4), but in none of those with type 1 VWD. 14630825 2004
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE The VWFpp ratio thus seemed very useful for distinguishing between type 1 VWD cases with a normal and a reduced VWF survival, as well as for identifying type Vicenza VWD. 18691167 2008
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE We present data from the sequence analysis of the VWF gene in 123 type 1 VWD index cases and their families. 17190853 2007
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect. 10792299 2000
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE The importance of the cysteine residues in the D3 domain of vWF in the pathogenesis of dominant type 1 vWD was further shown by the detection of another cysteine mutation, Cys367-->Phe, in two additional unrelated patients with a similar dominant type 1 vWD phenotype. 8839833 1996
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. 11736956 2001
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		0.800 GeneticVariation disease BEFREE Dominant VWD type 1/2E is a mixed quantitative and qualitative multimerization defect caused by a heterozygous cysteine mutation in the D3 domain resulting in abnormal multimerization with a secretion and clearance defect of VWF not due to increased proteolysis. 19506352 2009