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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Current controversies in the diagnosis and management of von Willebrand disease. 26288715 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. 24319188 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. 22197721 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. 19372260 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). 16985174 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. 17190853 2007
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. 16889557 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Genetic testing for von Willebrand disease: the Canadian experience. 16862529 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). 16634745 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Congenital von Willebrand disease type I: definition, phenotypes, clinical and laboratory assessment. 11686102 2001
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Diagnosis and management of von Willebrand disease. 23401897 1999
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR Birth of the D-E-A-D box. 2563148 1989
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 CausalMutation group CLINVAR The effect of ABO blood group on the diagnosis of von Willebrand disease. 3495304 1987