Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Trp515Lys (p.W515K)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Lys (p.W515K) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Chronic myeloproliferative disorder
- Source Database
- DisGeNET
- Description
- The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in approximately 5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative neoplasm).
- Pubmed
- 19194467
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00760037241824849
- Year of publication
- 2009
Drugs