rs587783625
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
28229514
2017
rs587783626
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
28229514
2017
rs587783625
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
26694085
2016
rs587783626
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
A
0.800
CausalMutation
CLINVAR
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
26694085
2016
rs587783626
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
26694085
2016
rs587783625
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Weaver syndrome and defective cortical development: a rare association.
23239504
2013
rs587783626
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Weaver syndrome and defective cortical development: a rare association.
23239504
2013
rs587783625
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Mutations in EZH2 cause Weaver syndrome.
22177091
2012
rs587783626
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Mutations in EZH2 cause Weaver syndrome.
22177091
2012
rs587783625
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
22190405
2011
rs587783626
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.800
GeneticVariation
UNIPROT
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
22190405
2011
rs587783626
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
A
0.800
CausalMutation
CLINVAR
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
22190405
2011
rs587783625
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
T
0.800
CausalMutation
CLINVAR
rs267601394
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma
0.720
GeneticVariation
BEFREE
These results suggest that Ezh2(Y641F ) induces lymphoma and melanoma through a vast reorganization of chromatin structure, inducing both repression and activation of polycomb-regulated loci.
27135738
2016
rs267601394
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma
A
0.720
GeneticVariation
CLINVAR
Selective inhibition of EZH2 by EPZ-6438 leads to potent antitumor activity in EZH2-mutant non-Hodgkin lymphoma.
24563539
2014
rs267601394
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma
0.720
GeneticVariation
BEFREE
As EZH2 mutations often coincide with other mut ations in lymphoma , we combined the expression of EZH2(Y641F ) by crossing these transgenic mice with Eµ-Myc transgenic mice.
24802772
2014
rs267601394
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma
G
0.720
GeneticVariation
CLINVAR
A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.
23023262
2012
rs267601394
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma
A
0.720
GeneticVariation
CLINVAR
A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.
23023262
2012
rs1057519833
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma
0.710
GeneticVariation
BEFREE
Herein, we identify mutation of EZH2 A677 to a glycine (A677G ) among lymphoma cell lines and primary tumor specimens.
22323599
2012
rs1057519833
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma
C
0.710
GeneticVariation
CLINVAR
A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.
23023262
2012
rs10952780
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
RDW - Red blood cell distribution width result
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs10952780
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Red cell distribution width determination
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs397515547
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.700
GeneticVariation
UNIPROT
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
28229514
2017
rs397515548
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Weaver syndrome
0.700
GeneticVariation
UNIPROT
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
28229514
2017
rs1057519894
×
Entrez Id:
2146
Gene Symbol:
EZH2
EZH2
Lymphoma, Non-Hodgkin, Familial
G
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016