Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
MPL p.Trp515Leu (p.W515L)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Myeloproliferative disease
- Source Database
- DisGeNET
- Description
- Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders.
- Pubmed
- 19643476
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.3516606542292
- Year of publication
- 2010
Drugs