rs121913521, KIT

N. diseases: 12
Disease: Neuroendocrine Tumors ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
0.010 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