VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: Hemophilia, NOS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.070 GeneticVariation disease BEFREE Additional VWF variants were identified in three hemophilia patients. 31026269 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.070 Biomarker disease BEFREE Several studies of ITI therapy are ongoing with the aim of clarifying unresolved issues in haemophilia management including the role of von Willebrand factor in inhibitor eradication. 29543371 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.070 Biomarker disease BEFREE Ex vivo evidence suggests that FVIII is co-stored with von Willebrand factor in Weibel–Palade bodies in some forms of non-severe haemophilia. 29212111 2017
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.070 Biomarker disease BEFREE Non-mixing led to substantial reduction in VWF and factors in about 25% of samples, that in some cases could lead to misdiagnosis of VWD or haemophilia. 28750474 2017
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.070 AlteredExpression disease BEFREE Patients presenting with a low FVIII:C and with normal VWF levels are usually presumed to have hemophilia (males) or be carriers for hemophilia (females). 21425451 2011
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.070 Biomarker disease BEFREE Results from 22 International Haemophilia Training Centres (IHTCs) provide target values for the prothrombin time (PT), activated partial thromboplastin time (APTT), factor VIII:C, IX:C and von Willebrand factor assays, against which the performance of haemophilia centres (HCs) in developing countries can be assessed. 9873890 1998
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.070 GeneticVariation disease BEFREE We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent with X-linked transmission. 8500791 1993