Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Mutations in EZH2 cause Weaver syndrome. 22177091 2012
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720 2012
dbSNP: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma 		G 0.700 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0024299
Disease:
Lymphoma 		T 0.700 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
dbSNP: rs397515547
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
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: rs1057519833
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
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: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE One tumor harbored a Y641N mutation of the histone methyltransferase EZH2 gene, previously linked to myeloid and lymphoid malignancy formation. 22740705 2012
dbSNP: rs267601395
rs267601395
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE One tumor harbored a Y641N mutation of the histone methyltransferase EZH2 gene, previously linked to myeloid and lymphoid malignancy formation. 22740705 2012
dbSNP: rs377467108
rs377467108
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0001815
Disease:
Primary Myelofibrosis 		0.010 GeneticVariation BEFREE A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). 22052707 2012
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: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728 2013
dbSNP: rs1554499814
rs1554499814
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C1849265
Disease:
Overgrowth 		G 0.700 GeneticVariation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728 2013
dbSNP: rs397515547
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
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
rs797044844
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
CUI: C0265210
Disease:
Weaver syndrome 		C 0.700 CausalMutation CLINVAR Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. 24214728 2013