Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance. 21592258

2012

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. 12406074

2002

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8622978

1996

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. 7789955

1995

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. 8547152

1995

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia. 7734373

1995

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. 7620154

1995

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations. 8123844

1994

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT The family study highly suggested that the propositus is the first case of homozygote for type IIC vWD gene, although previous studies have suggested that type IIC vWD is due to double heterozygosity of two different mutant genes. 8011991

1994

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. 8123843

1994

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method. 8338947

1993

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. 8435341

1993

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib. 8376405

1993

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor. 8348943

1993

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. 8486782

1993

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease. 1429668

1992

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden. 1419803

1992

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB. 1420817

1992

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. 1729889

1992

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. 1409710

1992

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX. 1419804

1992

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A." 1906179

1991

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 2010538

1991

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor. 2011604

1991

Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
1.000 GeneticVariation UNIPROT Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 1832934

1991