Annotation Detail
Information
- Associated Genes
- F11
- Associated Variants
-
F11 p.Thr404Asn (p.T404N)
(
ENST00000403665.7 )
F11 p.Thr404Asn (p.T404N) ( ENST00000403665.7 ) - Associated Disease
- factor XI deficiency
- Source Database
- DisGeNET
- Description
- Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.
- Pubmed
- 9401068
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.586518934375277
- Year of publication
- 1997
Drugs