Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Trp515Leu (p.W515L)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Thrombocythemia 2
- Source Database
- DisGeNET
- Description
- MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.
- Pubmed
- 16834459
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- 2006
Drugs