Annotation Detail
Information
- Associated Genes
- MYD88
- Associated Variants
-
MYD88 p.Leu260Pro (p.L260P)
(
ENST00000417037.8,
ENST00000421516.3,
ENST00000650112.2,
ENST00000650905.2,
ENST00000651800.2,
ENST00000652213.1 )
MYD88 p.Leu260Pro (p.L260P) ( ENST00000417037.8, ENST00000421516.3, ENST00000650112.2, ENST00000650905.2, ENST00000651800.2, ENST00000652213.1 ) - Associated Disease
- Waldenstrom Macroglobulinemia
- Source Database
- DisGeNET
- Description
- A mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by activation of Bruton tyrosine kinase in Waldenström macroglobulinemia.
- Pubmed
- 23836557
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12922902365073
- Year of publication
- 2013
Drugs