Annotation Detail

Information
Associated Genes
JAK1
Associated Variants
JAK1 MUTATION
JAK1 MUTATION
Associated Disease
Immune thrombocytopenic purpura
Source Database
DisGeNET
Description
Recognition of this newly identified physiological feedback mechanism illuminates the pathophysiology of platelet diseases, such as essential thrombocythemia and immune thrombocytopenia, and contributes to an understanding of the mechanisms of thrombocytopenia observed with JAK1/2 inhibition.
Pubmed
25485912
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs