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
- Thrombocythemia 2
- Source Database
- DisGeNET
- Description
- Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.
- Pubmed
- 14764528
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- 2004
Drugs