Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL MUTATION
MPL MUTATION
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- Thrombocythemia, Essential
- Source Database
- DisGeNET
- Description
- The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been identified and correlated with a subtype of essential thrombocythemia (ET) patients.
- Pubmed
- 17920754
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.288954139976145
- Year of publication
- 2007
Drugs