rs61750584, VWF

N. diseases: 3
Disease: von Willebrand Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease. 24712919 2014
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments. 23110044 2012
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR Diagnosis and management of von Willebrand disease in a single institution of Argentina. 22102201 2011
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations. 17681836 2007
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR ADAMTS13 substrate recognition of von Willebrand factor A2 domain. 16221672 2006
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR We used recombinant human ADAMTS13 (rhuADAMTS13) to digest recombinant full-length VWF and a VWF fragment spanning the VWF A1 through A3 domains, harboring 13 different VWD type 2A mutations (C1272S, G1505E, G1505R, S1506L, M1528V, R1569del, R1597W, V1607D, G1609R, I1628T, G1629E, G1631D, and E1638K). 16322474 2006
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
0.700 CausalMutation CLINVAR Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 1673047 1991