Condition: Myeloproliferative disease
rs1057519802 in
CSF1R gene and
Myeloproliferative disease
PMID 18971950 2009 Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1.
rs121913485 in
FGFR3 gene and
Myeloproliferative disease
PMID 21273588 2011 Constitutively active FGFR3 with Lys650Glu mutation enhances bortezomib sensitivity in plasma cell malignancy.
PMID 22869148 2013 Tumour cell responses to new fibroblast growth factor receptor tyrosine kinase inhibitors and identification of a gatekeeper mutation in FGFR3 as a mechanism of acquired resistance.
PMID 19331127 2009 Bortezomib therapeutic effect is associated with expression of FGFR3 in multiple myeloma cells.
rs1057519721 in
INSL6;JAK2 gene and
Myeloproliferative disease
PMID 20585391 2010 JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.
PMID 25849990 2015 Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
PMID 19287384 2009 A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
PMID 15781101 2005 Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders.
rs1057520016 in
JAK2;INSL6 gene and
Myeloproliferative disease
PMID 20585391 2010 JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.
PMID 19287384 2009 A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
PMID 17267906 2007 JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.