Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.040 GeneticVariation disease BEFREE There was no significant difference in EZH2 expression between the K27M mutant and wild-type DIPGs. 31848724 2020
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.040 GeneticVariation disease BEFREE In 16 of 21 cases (76%), potential targetable alterations were identified including highly relevant MET and NTRK1 fusions as well as an EZH2 alteration not previously described in DIPG. 31022591 2019
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.040 Biomarker disease BEFREE Intriguingly, EZH2 automethylation is significantly reduced in diffuse intrinsic pontine glioma (DIPG) cells that carry a lysine-to-methionine substitution in histone H3 (H3K27M), but not in cells that carry either EZH2 or EED mutants that abrogate PRC2 allosteric activation, indicating that H3K27M impairs the intrinsic activity of PRC2. 31488577 2019
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.040 Biomarker disease BEFREE Combination of EZH2 inhibitor and BET inhibitor for treatment of diffuse intrinsic pontine glioma. 29118968 2017