Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 MUTATION
ABL1 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
- Myeloproliferative disease
- Source Database
- DisGeNET
- Description
- A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloproliferative disorders.
- Pubmed
- 16670266
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0173722798131394
- Year of publication
- 2006
Drugs