Annotation Detail
Information
- Associated Genes
- VWF
- Associated Variants
-
VWF p.Arg854Gln (p.R854Q)
(
ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand Disease, Type 2
- Source Database
- DisGeNET
- Description
- Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.
- Pubmed
- 1832934
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.368143256162409
- Year of publication
- 1991
Drugs