rs267601395, EZH2

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lymphoma, Non-Hodgkin, Familial
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
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Lymphoma, Non-Hodgkin, Familial
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
Lymphoma
CUI: C0024299
Disease: Lymphoma
0.700 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
Lymphoma
CUI: C0024299
Disease: Lymphoma
0.700 GeneticVariation CLINVAR A selective inhibitor of EZH2 blocks H3K27 methylation and kills mutant lymphoma cells. 23023262 2012
Neoplasms
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
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE Interestingly, mutation of EZH2 WT alone generated an intermediate resistance phenotype, which is consistent with a previously proposed model of cooperation between EZH2 WT and Y641N mutants to promote tumorigenesis. 25893294 2016
Primary malignant neoplasm
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
Malignant Neoplasms
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