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:

rs10274701

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C3539878
Disease:

Triple Negative Breast Neoplasms

0.010

GeneticVariation

BEFREE

The G allele of rs10274701 significantly increased the EZH2 expression level in TNBC (p = 0.01).

26162541

2015

dbSNP:

rs10274701

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C4722518
Disease:

Triple-Negative Breast Carcinoma

0.010

GeneticVariation

BEFREE

The G allele of rs10274701 significantly increased the EZH2 expression level in TNBC (p = 0.01).

26162541

2015

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:

rs1057519833

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1332206
Disease:

Adult Lymphoma

0.010

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:	C1332979
Disease:

Childhood Lymphoma

0.010

GeneticVariation

BEFREE

Herein, we identify mutation of EZH2 A677 to a glycine (A677G) among lymphoma cell lines and primary tumor specimens.

22323599

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

dbSNP:

rs10952780

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10952780

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1131692184

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs12670401

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.010

GeneticVariation

BEFREE

EZH2 rs12670401, EZH2 rs6464926, age of menarche, and menopausal status were associated with breast cancer susceptibility.

29089464

2018

dbSNP:

rs12670401

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

EZH2 rs12670401, EZH2 rs6464926, age of menarche, and menopausal status were associated with breast cancer susceptibility.

29089464

2018

dbSNP:

rs1554481435

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0023480
Disease:

Leukemia, Myelomonocytic, Chronic

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1849265
Disease:

Overgrowth

0.700

GeneticVariation

CLINVAR

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

22190405

2011

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

24214728

2013

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1849265
Disease:

Overgrowth

0.700

GeneticVariation

CLINVAR

Mutations in EZH2 cause Weaver syndrome.

22177091

2012

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Mutations in EZH2 cause Weaver syndrome.

22177091

2012

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

22604720

2012

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

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

22190405

2011

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1849265
Disease:

Overgrowth

0.700

GeneticVariation

CLINVAR

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

24214728

2013

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Weaver syndrome: autosomal dominant inheritance of the disorder.

9781912

1998