| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Erdheim-Chester Disease
|
0.100 | 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 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | Vemurafenib as first-line therapy in <i>BRAF</i>-V600E-mutant Erdheim-Chester disease with CNS involvement. | 31748352 | 2019 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | Significant differences were the eyelid involvement in XG, orbital nerve involvement, and an elevated IgG4+/IgG+ ratio in IgG4-RD and the only genetic abnormality found was BRAF V600E mutation in the Erdheim-Chester disease subgroup of XG. | 26882062 | 2017 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. | 27863426 | 2016 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | Evaluation of clinicopathologic characteristics and the BRAF V600E mutation in Erdheim-Chester disease among Chinese adults. | 26858028 | 2016 | |||||
Erdheim-Chester Disease
|
0.100 | 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 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors. | 25324352 | 2015 | |||||
Erdheim-Chester Disease
|
0.100 | 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 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | Does the BRAF(V600E) mutation herald a new treatment era for Erdheim-Chester disease? A case-based review of a rare and difficult to diagnose disorder. | 25735579 | 2015 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease. | 25422482 | 2015 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | Erdheim-Chester disease with an 18F-fluorodeoxyglucose-avid breast mass and BRAF V600E mutation. | 24531980 | 2014 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. | 25003820 | 2014 | |||||
Erdheim-Chester Disease
|
0.100 | GeneticVariation | BEFREE | High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. | 22879539 | 2012 |