DisGeNET - a database of gene-disease associations

EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit, 2146

N. diseases: 653; N. variants: 35

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587783625

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

26694085

2016

dbSNP:

rs587783625

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Mutations in EZH2 cause Weaver syndrome.

22177091

2012

dbSNP:

rs587783625

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

28229514

2017

dbSNP:

rs587783625

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

22190405

2011

dbSNP:

rs587783625

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs587783625

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Weaver syndrome and defective cortical development: a rare association.

23239504

2013

dbSNP:

rs587783626

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

28229514

2017

dbSNP:

rs587783626

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

CausalMutation

CLINVAR

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

26694085

2016

dbSNP:

rs587783626

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Weaver syndrome and defective cortical development: a rare association.

23239504

2013

dbSNP:

rs587783626

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

22190405

2011

dbSNP:

rs587783626

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

26694085

2016

dbSNP:

rs587783626

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

GeneticVariation

UNIPROT

Mutations in EZH2 cause Weaver syndrome.

22177091

2012

dbSNP:

rs587783626

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.800

CausalMutation

CLINVAR

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

22190405

2011

dbSNP:

rs267601394

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

Lymphoma

0.720

GeneticVariation

CLINVAR

Selective inhibition of EZH2 by EPZ-6438 leads to potent antitumor activity in EZH2-mutant non-Hodgkin lymphoma.

24563539

2014

dbSNP:

rs267601394

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

Lymphoma

0.720

GeneticVariation

CLINVAR

A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.

23023262

2012

dbSNP:

rs267601394

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

Lymphoma

0.720

GeneticVariation

BEFREE

As EZH2 mutations often coincide with other mutations in lymphoma, we combined the expression of EZH2(Y641F) by crossing these transgenic mice with Eµ-Myc transgenic mice.

24802772

2014

dbSNP:

rs267601394

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

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

dbSNP:

rs267601394

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

Lymphoma

0.720

GeneticVariation

CLINVAR

A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.

23023262

2012

dbSNP:

rs1057519833

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

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

dbSNP:

rs1057519833

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

Lymphoma

0.710

GeneticVariation

CLINVAR

A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells.

23023262

2012

dbSNP:

rs1057519894

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C4721532
Disease:

Lymphoma, Non-Hodgkin, Familial

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519894

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0151779
Disease:

Cutaneous Melanoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519894

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0151779
Disease:

Cutaneous Melanoma

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519894

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C4721532
Disease:

Lymphoma, Non-Hodgkin, Familial

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1060503430

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

CLINVAR