Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL p.Ser505Asn (p.S505N)
(
ENST00000413998.7,
ENST00000372470.9 )
MPL p.Ser505Asn (p.S505N) ( ENST00000372470.9, ENST00000413998.7 ) - Associated Disease
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.
- Pubmed
- 19713221
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0514070483465319
- Year of publication
- 2010
Drugs