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:

rs397515547

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

Mutations in EZH2 cause Weaver syndrome.

22177091

2012

dbSNP:

rs397515548

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

Mutations in EZH2 cause Weaver syndrome.

22177091

2012

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

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

22190405

2011

dbSNP:

rs397515547

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

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

22190405

2011

dbSNP:

rs397515548

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

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: autosomal dominant inheritance of the disorder.

9781912

1998

dbSNP:

rs1554499814

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1849265
Disease:

Overgrowth

0.700

GeneticVariation

CLINVAR

Weaver syndrome: autosomal dominant inheritance of the disorder.

9781912

1998

dbSNP:

rs1060503430

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1131692184

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554481435

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0023480
Disease:

Leukemia, Myelomonocytic, Chronic

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1563181659

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

ACTT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193921147

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs193921148

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs587783627

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs797045568

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

CausalMutation

CLINVAR

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:

rs267601394

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1332206
Disease:

Adult Lymphoma

0.020

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:	C1332979
Disease:

Childhood Lymphoma

0.020

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:

rs887569

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1306459
Disease:

Primary malignant neoplasm

0.020

GeneticVariation

BEFREE

Individuals with the EZH2 rs887569 TT genotypes were associated with decreased cancer risk than those with wild-type CC genotype.

27630289

2016

dbSNP:

rs887569

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0006826
Disease:

Malignant Neoplasms

0.020

GeneticVariation

BEFREE

Individuals with the EZH2 rs887569 TT genotypes were associated with decreased cancer risk than those with wild-type CC genotype.

27630289

2016

dbSNP:

rs267601394

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C1332979
Disease:

Childhood Lymphoma

0.020

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:	C1332206
Disease:

Adult Lymphoma

0.020

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:

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