Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg1205Leu (p.R1205L)
(
ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Cys1130Phe (p.C1130F) ( ENST00000261405.10 )
VWF p.Arg1205Leu (p.R1205L) ( ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Cys1130Phe (p.C1130F) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease
- Source Database
- DisGeNET
- Description
- It was the aim of the present study to prospectively evaluate clinical events of 60 heterozygous patients with VWD Vicenza (VWD-VI) carrying R1205H VWF mutation and 23 with C1130F mutation, both characterised by markedly increased VWF clearance.
- Pubmed
- 21264446
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.249618745023685
- Year of publication
- 2011
Drugs