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:

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:

rs887569

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.020

GeneticVariation

BEFREE

rs887569 and rs2302427 in EZH2 may be correlated with a decreased cancer risk.

29497317

2018

dbSNP:

rs887569

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.020

GeneticVariation

BEFREE

rs887569 and rs2302427 in EZH2 may be correlated with a decreased cancer risk.

29497317

2018

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:

rs2302427

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

rs887569 and rs2302427 in EZH2 may be correlated with a decreased cancer risk.

29497317

2018

dbSNP:

rs2302427

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.010

GeneticVariation

BEFREE

rs887569 and rs2302427 in EZH2 may be correlated with a decreased cancer risk.

29497317

2018

dbSNP:

rs267601395

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

In cancer diseases, the first reported 2-pyridone inhibitors displayed high antiproliferative effects in vitro and in vivo in lymphomas characterized by mutant EZH2 (such as Y641N), but the most recent compounds exert their anticancer activity against tumors with wild-type EZH2 as well.

30338896

2018

dbSNP:

rs3757441

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings.

29497317

2018

dbSNP:

rs3757441

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.010

GeneticVariation

BEFREE

Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings.

29497317

2018

dbSNP:

rs41277434

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.010

GeneticVariation

BEFREE

Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings.

29497317

2018

dbSNP:

rs41277434

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

Although rs3757441 and rs41277434 are independent risk factors of cancer, further large-scale and functional studies are warranted to validate our findings.

29497317

2018

dbSNP:

rs6464926

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:

rs6464926

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:

rs6464926

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0027627
Disease:

Neoplasm Metastasis

0.010

GeneticVariation

BEFREE

EZH2 rs12670401 and rs6464926 polymorphisms, EZH2 and SMYD3 expression, clinical staging, lymph node metastasis, human epidermal growth factor receptor-2 (HER2) status, and metastasis may be correlated with breast cancer susceptibility and prognosis.

29089464

2018

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:

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:

rs397515547

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

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

28229514

2017

dbSNP:

rs397515548

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

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

28229514

2017

dbSNP:

rs2302427

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.010

GeneticVariation

BEFREE

The result showed that rs2302427 was significantly associated with CRC susceptibility under an additive model (P=0.0068).

29212262

2017

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:

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

26694085

2016

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