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
- Beyond the discovery of the myeloid differentiation primary response gene 88 (MYD88) L265P mutation, which will help greatly in the differential characterization of WM from other B-cell low-grade lymphomas, several other mechanisms of gene deregulation were identified and mapped that recurrently pointed out nuclear factor-kappa B (NF-κB), breakpoint cluster region (BCR), and Toll-like receptor (TLR) signaling pathways as potential targets for a better understanding of the physiopathology of WM and for future drug development.
- Pubmed
- 23473949
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12922902365073
- Year of publication
- 2013
Drugs