Annotation Detail
Information
- Associated Genes
- COX8A
- Associated Variants
-
VWF p.Arg1205Leu (p.R1205L)
(
ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Met740Ile (p.M740I) ( ENST00000261405.10 )
VWF p.Arg1205Leu (p.R1205L) ( ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Met740Ile (p.M740I) ( ENST00000261405.10 ) - Associated Disease
- von Willebrand disease type 2M
- Source Database
- DisGeNET
- Description
- Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect.
- Pubmed
- 16420565
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2006
Drugs