CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 GeneticVariation disease BEFREE Structural Determinants of the Gain-of-Function Phenotype of Human Leukemia-associated Mutant CBL Oncogene. 28082680 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 Biomarker disease BEFREE Clinical data suggest that CBL mutations are a frequent event in t(8;21) AML, but the role of CBL in AML1-ETO-induced leukemia has not been investigated. 26449661 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.030 GeneticVariation disease BEFREE The penetrance of the CBL Y371C mutation was 30% for JMML and 40% for all leukemia. 25939664 2015