rs121913377, BRAF

N. diseases: 480
Disease: Juvenile Xanthogranuloma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Xanthogranuloma
CUI: C0043324
Disease: Juvenile Xanthogranuloma
0.020 GeneticVariation BEFREE BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease. 31685033 2019
Juvenile Xanthogranuloma
CUI: C0043324
Disease: Juvenile Xanthogranuloma
0.020 GeneticVariation BEFREE It may be more appropriate to classify intracranial/cranial JXG in the same group as Langerhans cell histiocytosis and Erdheim-Chester disease, which also have a BRAF V600E mutation. 28504206 2017