Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
MPL p.Trp515Lys (p.W515K)
(
ENST00000372470.9,
ENST00000413998.7 )
MPL p.Trp515Lys (p.W515K) ( ENST00000372470.9, ENST00000413998.7 )
JAK2 MUTATION
JAK2 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
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies.
- Pubmed
- 25176567
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.294051045438073
- Year of publication
- 2014
Drugs