Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783625
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
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: rs587783625
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
rs587783626
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome
A 0.800 CausalMutation CLINVAR Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. 26694085 2016
dbSNP: rs587783626
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: rs587783625
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
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: rs587783625
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: rs587783626
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: rs587783625
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: rs587783626
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
rs587783626
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome
A 0.800 CausalMutation CLINVAR Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. 22190405 2011
dbSNP: rs587783625
rs587783625
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome
T 0.800 CausalMutation CLINVAR
dbSNP: rs267601394
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
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma
A 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
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
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma
G 0.720 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs267601394
rs267601394
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma
A 0.720 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs1057519833
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
rs1057519833
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma
C 0.710 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs10952780
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
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: rs397515547
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
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: rs1057519894
rs1057519894
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C4721532
Disease:
Lymphoma, Non-Hodgkin, Familial
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016