Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE We found the BRAF(V600E) mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions. 24894769 2014
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE In conclusion, activating V600E BRAF mutation can be frequently demonstrated in pediatric LCH by both allele-specific PCR and IHC. 25118810 2014
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE Consistent with our findings in humans, expression of BRAF-V6</span>00E in BM DC progenitors recapitulated many features of the human high-risk LCH, whereas BRAF-V600E expression in differentiated DCs more closely resembled low-risk LCH. 24638167 2014
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE Localized Langerhans cell histiocytosis of the thymus with BRAF V600E mutation: a case report with immunohistochemical and genetic analyses. 24703101 2014
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. 23258922 2013
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE Our report is the first to identify the rare, variant BRAF V600D</span> mutation in LCH, and provides support for constitutively activated BRAF oncogene-induced cell senescence as a mechanism of regression in congenital, benign LCH. 22996177 2013
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases. 22879539 2012
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE Our data confirmed presence of the (V600E)B-RAF mutation in LCH granuloma of some patients, and identify two novel B-RAF mutations. 22506009 2012