MAPK1, mitogen-activated protein kinase 1, 5594

N. diseases: 1059; N. variants: 13
Disease: Dendritic cell neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1531553
Disease: Dendritic cell neoplasm
Dendritic cell neoplasm 		0.010 GeneticVariation disease BEFREE Although LCH was once considered a disorder of immune regulation, the identification of activating mutations in the proto-oncogene BRAF-V600E in ~50%-60% of cases and MEK and ERK phosphorylation in 100% of examined cases, has changed the definition of LCH to a dendritic cell neoplasm with a strong inflammatory component. 26637773 2015