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
stomach carcinoma
Source Database
DisGeNET
Description
The development of gastric cancer in a patient with polycythemia Vera, 3P deletion, and JAK2 V617F mutation.
Pubmed
20306156
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00244297684872273
Year of publication
2010
Drugs