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:

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:

rs267601394

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:

rs267601394

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:

rs267601394

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:

rs267601394

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:

rs267601395

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:

rs267601395

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:

rs267601395

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:

rs267601395

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:

rs397515547

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

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

26694085

2016

dbSNP:

rs397515548

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

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

26694085

2016

dbSNP:

rs775407864

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

CausalMutation

CLINVAR

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

26380986

2015

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

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

24214728

2013

dbSNP:

rs397515547

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

Weaver syndrome and defective cortical development: a rare association.

23239504

2013

dbSNP:

rs397515548

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

GeneticVariation

UNIPROT

Weaver syndrome and defective cortical development: a rare association.

23239504

2013

dbSNP:

rs797044844

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0265210
Disease:

Weaver syndrome

0.700

CausalMutation

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:	C1849265
Disease:

Overgrowth

0.700

GeneticVariation

CLINVAR

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

22604720

2012

dbSNP:

rs267601395

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

Lymphoma

0.700

GeneticVariation

CLINVAR

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

23023262

2012

dbSNP:

rs267601395

Entrez Id:	2146
Gene Symbol:	EZH2

EZH2

CUI:	C0024299
Disease:

Lymphoma

0.700

GeneticVariation

CLINVAR

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

23023262

2012