Annotation Detail
Information
- Associated Genes
- JAK2
- Associated Variants
-
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
- Myeloid Metaplasia
- Source Database
- DisGeNET
- Description
- The present data suggests the JAK2 V617F allele burden as a key determinant of the degree of myeloproliferation and myeloid metaplasia reflected by significantly higher levels of white blood cell counts (WBC) (P = 0.03), CD34 counts (P = 0.03), lactate dehydrogenase and Polycythemia Rubra Vera gene 1 levels (P = 0.03 and P < 0.00001 respectively), as well as lower platelet counts (P = 0.02) and more cases of splenomegaly (P = 0.001) in homozygous PV patients compared to their heterozygous counterparts.
- Pubmed
- 17961178
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2007
Drugs