KMT5A, lysine methyltransferase 5A, 387893

N. diseases: 49; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.080 Biomarker disease BEFREE The SET8 CC and TP53 GG genotypes were independently associated with an earlier age of breast cancer onset in an allele-dose-dependent manner (for SET8, 52.2 years for TT, 51.4 for TC, and 49.5 for CC; and for TP53, 53.1 years for CC, 51.5 for GC, 50.7 for GG). 19789321 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.080 GeneticVariation group BEFREE Individuals with combined SET8 CC and TP53 GG genotypes developed cancer at a median age of 47.7 years as compared with 54.6 years for individuals with combined SET8 TT and TP53 CC genotypes. 19789321 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.080 Biomarker disease BEFREE The SET8 CC and TP53 GG genotypes were independently associated with an earlier age of breast cancer onset in an allele-dose-dependent manner (for SET8, 52.2 years for TT, 51.4 for TC, and 49.5 for CC; and for TP53, 53.1 years for CC, 51.5 for GC, 50.7 for GG). 19789321 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 GeneticVariation group BEFREE Individuals with combined SET8 CC and TP53 GG genotypes developed cancer at a median age of 47.7 years as compared with 54.6 years for individuals with combined SET8 TT and TP53 CC genotypes. 19789321 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Together, our experiments revealed a novel role for SET8 in tumour invasion and metastasis and provide a molecular mechanism underlying TWIST-promoted EMT, suggesting SET8 as a potential target for intervention of the metastasis of breast cancer. 21983900 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.080 Biomarker disease BEFREE Together, our experiments revealed a novel role for SET8 in tumour invasion and metastasis and provide a molecular mechanism underlying TWIST-promoted EMT, suggesting SET8 as a potential target for intervention of the metastasis of breast cancer. 21983900 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.080 Biomarker disease BEFREE Together, our experiments revealed a novel role for SET8 in tumour invasion and metastasis and provide a molecular mechanism underlying TWIST-promoted EMT, suggesting SET8 as a potential target for intervention of the metastasis of breast cancer. 21983900 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.060 Biomarker phenotype BEFREE Together, our experiments revealed a novel role for SET8 in tumour invasion and metastasis and provide a molecular mechanism underlying TWIST-promoted EMT, suggesting SET8 as a potential target for intervention of the metastasis of breast cancer. 21983900 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE As such, it is predicted that SET8 might be involved in the development and progression of tumour. 21983900 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.030 AlteredExpression disease BEFREE Our data suggest that SET8 modifies HCC outcome by altering its expression, which depends, at least in part, on its binding affinity with miR-502. 22095217 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.080 AlteredExpression group BEFREE An increase of methylated PCNA was found in cancer cells, and the expression levels of SETD8 and PCNA were correlated in cancer tissue samples. 22556262 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 AlteredExpression group BEFREE An increase of methylated PCNA was found in cancer cells, and the expression levels of SETD8 and PCNA were correlated in cancer tissue samples. 22556262 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.050 AlteredExpression phenotype BEFREE Histone lysine methyltransferase SETD8 promotes carcinogenesis by deregulating PCNA expression. 22556262 2012
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 GeneticVariation disease BEFREE The SET8 CC genotype was associated with a decreased risk of EOC in this case-control study. 22867998 2012
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation disease BEFREE The SET8 CC genotype was associated with a decreased risk of EOC in this case-control study. 22867998 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.080 Biomarker disease BEFREE Our experiments provide a molecular mechanism for the regulation of SET8 and extend the biological function of microRNA-7 to DNA damage response, supporting the pursuit of microRNA-7 as a potential target for breast cancer intervention. 23720754 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.080 Biomarker disease BEFREE Our experiments provide a molecular mechanism for the regulation of SET8 and extend the biological function of microRNA-7 to DNA damage response, supporting the pursuit of microRNA-7 as a potential target for breast cancer intervention. 23720754 2013
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 AlteredExpression disease BEFREE The CC genotype was associated with reduced SET8 protein expression based on immunostaining of 192 NSCLC tissue sample (P = 0.007). 24146953 2013
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 GeneticVariation disease BEFREE Therefore, the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism may be markers of genetic susceptibility to NSCLC in Chinese population, and there is a possible gene-gene interaction in the incidence of NSCLC. 24374662 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 AlteredExpression disease BEFREE Histone H4 Lys 20 methyltransferase SET8 promotes androgen receptor-mediated transcription activation in prostate cancer. 24937452 2014
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 AlteredExpression disease BEFREE Histone H4 Lys 20 methyltransferase SET8 promotes androgen receptor-mediated transcription activation in prostate cancer. 24937452 2014
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 GeneticVariation disease BEFREE Our results demonstrated that SETD8 rs16917496 C/T polymorphism was associated with decreased risk of developing pediatric ALL in Zahedan, southeast Iran. 25048968 2014
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.020 GeneticVariation disease BEFREE These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction. 25169478 2014
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.020 GeneticVariation disease BEFREE These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction. 25169478 2014
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.020 GeneticVariation disease BEFREE These data suggest that there are significant associations between the miR-502-binding site SNP in the 3'-UTR of SET8 and the TP53 codon 72 polymorphism with cervical cancer in Chinese, and there is a gene-gene interaction. 25169478 2014