rs121913507, KIT

N. diseases: 49
Disease: Myeloproliferative Neoplasm, Unclassifiable ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myeloproliferative Neoplasm, Unclassifiable
CUI: C1333046
Disease: Myeloproliferative Neoplasm, Unclassifiable
0.010 GeneticVariation BEFREE A case of systemic mastocytosis carrying the characteristic mutation at codon 816 (D816V) in the KIT gene of mast cells, with two concurrent accompanying clonal haematopoietic non-mast cell-lineage disorders, chronic myeloproliferative disease, unclassifiable and precursor B lymphoblastic leukaemia is documented. 18663058 2008