Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.130 GeneticVariation disease 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
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.130 GeneticVariation disease BEFREE Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001). 23440662 2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.130 Biomarker disease BEFREE Markers for myeloid cell maturation (CD10 and CD15) were more prevalent on EBCs from low-risk MDS (refractory anemia [RA] and RA with ringed sideroblasts), whereas markers for myeloid cell immaturity (CD7 and CD117) were more prevalent on EBCs from high-risk MDS (chronic myelomonocytic leukemia, RA with excess blasts [RAEB], and RAEB in transformation) and AL-MDS. 12393641 2002
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.130 Biomarker disease HPO