Condition: Hematologic Neoplasms


rs267606706 in CBL gene and Hematologic Neoplasms PMID 23696637 2013 CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.

rs1057519802 in CSF1R gene and Hematologic Neoplasms PMID 18971950 2009 Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1.

PMID 2406720 1990 FMS mutations in myelodysplastic, leukemic, and normal subjects.

rs724159945 in ETV6 gene and Hematologic Neoplasms PMID 25581430 2015 Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

rs121913506 in KIT gene and Hematologic Neoplasms PMID 16731599 2006 An update on molecular genetics of gastrointestinal stromal tumours.

PMID 11526490 2001 STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications.

rs121913615 in MPL gene and Hematologic Neoplasms PMID 16834459 2006 MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.