Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Thr51Pro (p.T51P)
(
ENST00000403665.7,
ENST00000492972.6 )
F11 p.Cys56Arg (p.C56R) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Ala63Val (p.A63V) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Asp222Asn (p.D222N) ( ENST00000403665.7 )
F11 p.Asp222Tyr (p.D222Y) ( ENST00000403665.7 )
F11 p.Arg228Gln (p.R228Q) ( ENST00000403665.7 )
F11 p.Arg228Leu (p.R228L) ( ENST00000403665.7 )
F11 p.Ser276Cys (p.S276C) ( ENST00000403665.7 )
F11 p.Gly277Asp (p.G277D) ( ENST00000403665.7 )
F11 p.Cys514Phe (p.C514F) ( ENST00000403665.7 )
F11 p.Ser575Leu (p.S575L) ( ENST00000403665.7 )
F11 p.Glu597Lys (p.E597K) ( ENST00000403665.7 )
F11 p.Thr51Pro (p.T51P) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Cys56Arg (p.C56R) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Ala63Val (p.A63V) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Asp222Asn (p.D222N) ( ENST00000403665.7 )
F11 p.Asp222Tyr (p.D222Y) ( ENST00000403665.7 )
F11 p.Arg228Gln (p.R228Q) ( ENST00000403665.7 )
F11 p.Arg228Leu (p.R228L) ( ENST00000403665.7 )
F11 p.Ser276Cys (p.S276C) ( ENST00000403665.7 )
F11 p.Gly277Asp (p.G277D) ( ENST00000403665.7 )
F11 p.Cys514Phe (p.C514F) ( ENST00000403665.7 )
F11 p.Ser575Leu (p.S575L) ( ENST00000403665.7 )
F11 p.Glu597Lys (p.E597K) ( ENST00000403665.7 ) - Associated Disease
- factor XI deficiency
- Source Database
- DisGeNET
- Description
- Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).
- Pubmed
- 22159456
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.586518934375277
- Year of publication
- 2012
Drugs