rs121913377, BRAF

N. diseases: 480
Disease: Lipogranuloma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lipogranuloma
CUI: C1704214
Disease: Lipogranuloma
0.020 GeneticVariation BEFREE BRAF V600E mutations are not an oncogenic driver of solitary xanthogranuloma and reticulohistiocytoma: Testing may be useful in screening for Erdheim-Chester disease. 31639332 2019
Lipogranuloma
CUI: C1704214
Disease: Lipogranuloma
0.020 GeneticVariation BEFREE A BRAF(V600E) mutation in a non-LCH histiocytic lesion with a xanthogranuloma phenotype (CD163/CD68/CD14/fascin/Factor 13a) should prompt an Erdheim-Chester disease workup. 26454140 2016