rs121913377, BRAF

N. diseases: 480
Disease: Histiocytosis, Non-Langerhans-Cell ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Histiocytosis, Non-Langerhans-Cell
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
0.020 GeneticVariation BEFREE However, recurrent driving mutations in the majority of patients with BRAF(V600E)-wild-type non-LCH are unknown, and recurrent cooperating mutations in non-MAP kinase pathways are undefined for the histiocytic neoplasms. 26566875 2016
Histiocytosis, Non-Langerhans-Cell
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
0.020 GeneticVariation BEFREE Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAF(V600E) mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes. 25744785 2015