Annotation Detail
Information
- Associated Genes
- MPL
- Associated Variants
-
MPL MUTATION
MPL MUTATION
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 )
JAK2 p.Val617Ile (p.V617I) ( ENST00000381652.4 )
JAK2 p.Val617Phe (p.V617F) ( ENST00000381652.4 ) - Associated Disease
- Thrombocythemia, Essential
- Source Database
- DisGeNET
- Description
- In a retrospective study, we examined the frequency of MPL and CALR mutations in JAK2 V617F-negative cases of essential thrombocythemia (n=103).
- Pubmed
- 25934766
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.288954139976145
- Year of publication
- 2015
Drugs