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
- Primary myelofibrosis
- Source Database
- DisGeNET
- Description
- Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant allelic burden of JAK2(V617F), but not of MPL(W515L) which, by contrast to JAK2(V617F), shows a higher percentage of mutated alleles in fibrotic than in prefibrotic cases.
- Pubmed
- 19616600
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0514070483465319
- Year of publication
- 2009
Drugs