rs121913377, BRAF

N. diseases: 480
Disease: Neurofibromatosis 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.020 GeneticVariation BEFREE Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to NF. 23190154 2013
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
0.020 GeneticVariation BEFREE For the first time, we report concomitant presence of a somatic BRAF(V600E) mutation in an NF1 patient indicating that more than one Ras/ERK pathway component can be affected in PA. 21190184 2011