rs121913506, KIT

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.020 GeneticVariation BEFREE A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. 27781377 2017
Mastocytosis, Systemic
CUI: C0221013
Disease: Mastocytosis, Systemic
0.020 GeneticVariation BEFREE Overall, KIT D816 mutations were identified in 146/147 (99 %) of patients (D816V, n = 142; D816H, n = 2; D816Y, n = 2) with SM, including indolent SM (ISM, n = 63, 43 %), smoldering SM (n = 8, 5 %), SM with associated hematological non-mast cell lineage disease (SM-AHNMD, n = 16, 11 %), and aggressive SM/mast cell leukemia ± AHNMD (ASM/MCL, n = 60, 41 %). 24281161 2014