Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.060 GeneticVariation disease BEFREE Clinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosis. 29768711 2018
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.060 GeneticVariation disease BEFREE BRAFV600E and MAP2K1 mutations in Langerhans cell histiocytosis occur predominantly in children. 27597420 2017
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.060 GeneticVariation disease BEFREE We assessed for BRAF and MAP2K1 mutations in seven cases of Langerhans cell histiocytosis detected incidentally in biopsies involved by lymphoma. 28084334 2017
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.060 GeneticVariation disease BEFREE BRAF and MAP2K1 mutations in Langerhans cell histiocytosis: a study of 50 cases. 26980021 2016
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.060 GeneticVariation disease BEFREE MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. 25899310 2015
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
0.060 GeneticVariation disease BEFREE High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. 24982505 2014