Annotation Detail

Information
Associated Genes
MPL
Associated Variants
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
MPL p.Trp515Leu (p.W515L) ( ENST00000372470.9, ENST00000413998.7 )
Associated Disease
Chronic myeloproliferative disorder
Source Database
DisGeNET
Description
MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on TaqMan MGB probes.
Pubmed
19274616
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00760037241824849
Year of publication
2010
Drugs