Annotation Detail

Information
Associated Genes
MPL
Associated Variants
MPL MUTATION
MPL MUTATION
Associated Disease
myelofibrosis
Source Database
DisGeNET
Description
As such, CALR first, followed by MPL if CALR is absent, mutation screening is appropriate in the diagnostic work-up of JAK2-unmutated ET but does not replace the need for BM morphologic examination in (1) confirming the diagnosis in triple-negative ET and (2) distinguishing ET from other myeloproliferative neoplasms that share the same mutations, including masked PV and early/prefibrotic myelofibrosis.
Pubmed
26355403
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree,CLINVAR,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.363528744337044
Drugs