rs121913521, KIT

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE V560G-KIT FDC-P1 tumor FDG uptake was significantly reduced compared with baseline levels following 2 days of nilotinib treatment. 20442311 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE In this study, we show that myeloid cells expressing activated c-KIT mutants that are imatinib sensitive (V560G) or imatinib resistant (D816V) can inhibit the tumor suppressor activity of protein phosphatase 2A (PP2A). 20551067 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors. 17566086 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Consistent with the PET results, expression of the glucose transporter, GLUT1, was significantly reduced in V560G tumors at 4 hours, preceding changes in markers of proliferation by several hours. 16266981 2005