Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.050 GeneticVariation BEFREE Histologically, the tumor was considered to be glioblastoma; however, a part of the tumor exhibiting low proliferative activity appeared to be consistent with long-standing H3 K27M-mutant tumors in the literature.Another case was a 69-year-old male. 28547652 2017
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.050 GeneticVariation BEFREE Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. 27392443 2016
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.050 GeneticVariation BEFREE These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples. 26376656 2016
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.050 GeneticVariation BEFREE Our results indicate that H3F3A K27M mutant GBMs show decreased H3K27me3 that may be of both diagnostic and biological relevance. 23414300 2013
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.050 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013