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
L265P mutation of the MYD88 gene is frequent in Waldenström's macroglobulinemia and its absence in myeloma.
Pubmed
24224040
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.12922902365073
Year of publication
2013
Drugs