|
Abnormal behavior
|
0.120 |
AlteredExpression
|
phenotype |
BEFREE |
RNA-seq data obtained from PD_NGSAtlas, a reference database for epigenomic and transcriptomic data for psychiatric disorders, demonstrated a 3-fold increase in EZH2 expression in the anterior cingulate cortex of individuals with schizophrenia compared to controls.
|
29501388 |
2018 |
|
Abnormal behavior
|
0.120 |
Biomarker
|
phenotype |
BEFREE |
Lentiviral knockdown of EZH2 rescued Purkinje cell degeneration and behavioral abnormalities in Atm(-/-) mice, demonstrating that EZH2 hyperactivity is another key factor in A-T neurodegeneration.
|
24162653 |
2013 |
|
Abnormal behavior
|
0.120 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of cardiovascular system morphology
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We identified a wide spectrum of cardiovascular malformations in the Ezh2 mutant mice, which collectively led to perinatal death.
|
22312437 |
2012 |
|
Abnormality of cardiovascular system morphology
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormality of the metaphysis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Abnormally low-pitched voice
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Absence of septum pellucidum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acquired aplastic anemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Introduction of T-bet but not STAT4 into Ezh2-deficient T cells fully rescued their differentiation into Th1 cells mediating AA.
|
24760151 |
2014 |
|
Acquired Camptodactyly
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Additional clinical features which may help in stratifying individuals to EZH2 mutation testing include camptodactyly, soft, doughy skin, umbilical hernia, and a low, hoarse cry.
|
24214728 |
2013 |
|
Acquired Camptodactyly
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acrocephaly
|
0.300 |
Biomarker
|
disease |
CTD_human |
Epigenetic Control of Skeletal Development by the Histone Methyltransferase Ezh2.
|
26424790 |
2015 |
|
Acute Erythroblastic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
In conclusion, MYCN contributes to the malignant characteristics of erythroleukemia through EZH2-meidated epigenetic repression of p21.
|
29022893 |
2017 |
|
Acute leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The combination of MYC amplification and EZH2 deletion, which has not been described previously in AML, may suggest a synergistic role of the two oncogenes in the pathogenesis of the patient's acute leukemia.
|
25800664 |
2015 |
|
Acute lymphocytic leukemia
|
0.220 |
Biomarker
|
disease |
BEFREE |
Ezh2 Controls an Early Hematopoietic Program and Growth and Survival Signaling in Early T Cell Precursor Acute Lymphoblastic Leukemia.
|
26904942 |
2016 |
|
Acute lymphocytic leukemia
|
0.220 |
GeneticVariation
|
disease |
BEFREE |
To study the prevalence and clinical impact of PRC2 aberrations in an unselected childhood ALL cohort (n = 152), we performed PRC2 mutational screenings by Sanger sequencing and promoter methylation analyses by quantitative pyrosequencing for the three PRC2 core component genes EZH2, suppressor of zeste 12 (SUZ12), and embryonic ectoderm development (EED).
|
27169594 |
2016 |
|
Acute lymphocytic leukemia
|
0.220 |
Biomarker
|
disease |
MGD |
|
|
|
|
Acute monocytic leukemia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
EZH2 mutations were identified in 13/714 (1.8%) of AML patients were found to be more common in males (P = 0.033).
|
23613835 |
2013 |
|
Acute monocytic leukemia
|
0.060 |
Biomarker
|
disease |
BEFREE |
Semi-Quantitative Mass Spectrometry in AML Cells Identifies New Non-Genomic Targets of the EZH2 Methyltransferase.
|
28678185 |
2017 |
|
Acute monocytic leukemia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
These data suggest ASXL1 mutations might results in dominance of the mutant clone in Chinese with MDS whereas EZH2 mutations might predict an increased risk of transformation to AML.
|
23099237 |
2013 |
|
Acute monocytic leukemia
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
AML with LM-CH was found in 40 patients (23%) and was associated with clonal hematopoiesis of indeterminate potential years before AML, older age, secondary AML and more frequent MDS-type co-mutations (TET2, RUNX1 and EZH2).
|
27881874 |
2017 |
|
Acute monocytic leukemia
|
0.060 |
AlteredExpression
|
disease |
BEFREE |
Accumulating studies have proved EZH2 dysregulation mediated by mutation and expression in diverse human cancers including AML.
|
31794134 |
2020 |
|
Acute monocytic leukemia
|
0.060 |
Biomarker
|
disease |
BEFREE |
Contrasting requirements during disease evolution identify EZH2 as a therapeutic target in AML.
|
30890554 |
2019 |
|
Acute myeloid leukemia, minimal differentiation
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Twenty gene mutations including class I, class II, class III of epigenetic regulators (IDH1, IDH2, TET2, DNMT3A, MLL-PTD, ASXL1, and EZH2), and class IV (tumor suppressor genes) were analyzed in 67 patients with AML-M0.
|
25022553 |
2014 |
|
Acute Promyelocytic Leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize a novel mechanism of EZH2 function alteration, which may be responsible for an acute myeloid leukemia with APL-like phenotype featuring dysregulation of the RARA and RARG genes.
|
29530751 |
2018 |