Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Cys46Phe (p.C46F)
(
ENST00000403665.7,
ENST00000492972.6 )
F11 p.Lys101Arg (p.K101R) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Tyr151Cys (p.Y151C) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Gly263Glu (p.G263E) ( ENST00000403665.7 )
F11 p.Ala430Val (p.A430V) ( ENST00000403665.7 )
F11 p.Pro538His (p.P538H) ( ENST00000403665.7 )
F11 p.Pro538Leu (p.P538L) ( ENST00000403665.7 )
F11 p.Glu565Lys (p.E565K) ( ENST00000403665.7 )
F11 p.Ile618Ser (p.I618S) ( ENST00000403665.7 )
F11 p.Cys46Phe (p.C46F) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Lys101Arg (p.K101R) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Tyr151Cys (p.Y151C) ( ENST00000403665.7, ENST00000492972.6 )
F11 p.Gly263Glu (p.G263E) ( ENST00000403665.7 )
F11 p.Ala430Val (p.A430V) ( ENST00000403665.7 )
F11 p.Pro538His (p.P538H) ( ENST00000403665.7 )
F11 p.Pro538Leu (p.P538L) ( ENST00000403665.7 )
F11 p.Glu565Lys (p.E565K) ( ENST00000403665.7 )
F11 p.Ile618Ser (p.I618S) ( ENST00000403665.7 ) - Associated Disease
- factor XI deficiency
- Source Database
- DisGeNET
- Description
- Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.
- Pubmed
- 15953011
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.586518934375277
- Year of publication
- 2005
Drugs