Annotation Detail
Information
- Associated Genes
- PRSS27
- Associated Variants
-
PRSS27 MUTATION
PRSS27 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
- Leukemia, Myelocytic, Acute
- Source Database
- DisGeNET
- Description
- PVTL-1 cells may provide a valuable model system to elucidate the molecular mechanisms involved in evolution of Jak2-V617F-expressing MPN to AML and to develop novel therapies against this intractable condition.
- Pubmed
- 24404189
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00407162808120455
- Year of publication
- 2013
Drugs