MDM4, MDM4 regulator of p53, 4194

N. diseases: 265; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2290854
rs2290854
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.810 GeneticVariation GWASCAT We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). 23544013 2013
dbSNP: rs2290854
rs2290854
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.810 GeneticVariation GWASDB We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). 23544013 2013
dbSNP: rs2290854
rs2290854
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		0.810 GeneticVariation BEFREE We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20). 23544013 2013
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.730 GeneticVariation BEFREE However, our study failed to show any relationship between rs4245739 A>C and rs11801299 G>A variants and BC risk (P > .05). 29439926 2018
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		0.730 GeneticVariation BEFREE However, our study failed to show any relationship between rs4245739 A>C and rs11801299 G>A variants and BC risk (P > .05). 29439926 2018
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		0.730 GeneticVariation BEFREE Profile of the breast cancer susceptibility marker rs4245739 identifies a role for miRNAs. 29372105 2017
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.730 GeneticVariation BEFREE Profile of the breast cancer susceptibility marker rs4245739 identifies a role for miRNAs. 29372105 2017
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		0.730 GeneticVariation GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709 2016
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		0.730 GeneticVariation BEFREE Interestingly, we observed a combinational effect between MDM4 rs4245739 and P53 Arg72Pro variants in attenuating breast cancer risk, highlighting the importance of the P53 tumor suppressor pathway genes during malignant transformation. 23793604 2013
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma 		0.730 GeneticVariation GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.730 GeneticVariation GWASDB Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.730 GeneticVariation BEFREE Interestingly, we observed a combinational effect between MDM4 rs4245739 and P53 Arg72Pro variants in attenuating breast cancer risk, highlighting the importance of the P53 tumor suppressor pathway genes during malignant transformation. 23793604 2013
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0600139
Disease:
Prostate carcinoma 		A 0.720 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.720 GeneticVariation BEFREE This study is the first, to our knowledge, to demonstrate regulation of the MDM4 rs4245739 SNP C-allele by two miRNAs in prostate cancer, and thereby to identify a mechanism by which the MDM4 rs4245739 SNP A-allele may be associated with an increased risk for prostate cancer. 25670033 2015
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0600139
Disease:
Prostate carcinoma 		0.720 GeneticVariation BEFREE MDM4 SNP34091 (rs4245739) and its effect on breast-, colon-, lung-, and prostate cancer risk. 26471763 2015
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		0.720 GeneticVariation BEFREE MDM4 SNP34091 (rs4245739) and its effect on breast-, colon-, lung-, and prostate cancer risk. 26471763 2015
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0600139
Disease:
Prostate carcinoma 		0.720 GeneticVariation BEFREE This study is the first, to our knowledge, to demonstrate regulation of the MDM4 rs4245739 SNP C-allele by two miRNAs in prostate cancer, and thereby to identify a mechanism by which the MDM4 rs4245739 SNP A-allele may be associated with an increased risk for prostate cancer. 25670033 2015
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0376358
Disease:
Malignant neoplasm of prostate 		A 0.720 GeneticVariation GWASDB Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0600139
Disease:
Prostate carcinoma 		A 0.720 GeneticVariation GWASCAT Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 23535732 2013
dbSNP: rs1046874
rs1046874
Entrez Id: 4194;105371692
Gene Symbol: MDM4;LOC105371692
MDM4;LOC105371692
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0428883
Disease:
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs4252707
rs4252707
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0017638
Disease:
Glioma 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
dbSNP: rs4252707
rs4252707
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0085136
Disease:
Central Nervous System Neoplasms 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 27618452 2016
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 27618452 2016