rs121913377, BRAF

N. diseases: 480
Disease: Desmoplastic infantile astrocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Desmoplastic infantile astrocytoma
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
0.030 GeneticVariation BEFREE Response in a child with a BRAF V600E mutated desmoplastic infantile astrocytoma upon retreatment with vemurafenib. 29230924 2018
Desmoplastic infantile astrocytoma
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
0.030 GeneticVariation BEFREE Five of six classic DIA/DIGs were negative for BRAF mutation; previous series have identified BRAF mutation in two of 18 and one of 14 cases, although all were the more common BRAF V600E. 27860162 2017
Desmoplastic infantile astrocytoma
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
0.030 GeneticVariation BEFREE BRAF V600E expression and distribution in desmoplastic infantile astrocytoma/ganglioglioma. 23822828 2014