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: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE Our results suggest that the MDM4 rs1380576 G variant may be markers for GCa susceptibility. 28099948 2017
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0699791
Disease:
Stomach Carcinoma
0.020 GeneticVariation BEFREE Our results suggest that the MDM4 rs1380576 G variant may be markers for GCa susceptibility. 28099948 2017
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0699791
Disease:
Stomach Carcinoma
0.020 GeneticVariation BEFREE We found that the polymorphisms of P53 (rs1042522) and MDM2 (rs2279744) are associated with gastric cancer</span> risk, whereas no significant association was observed between variant genotype of other two polymorphisms (MDM4 rs1380576 and Hausp rs1529916) and gastric cancer risk. 25479941 2015
dbSNP: rs10900598
rs10900598
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0153381
Disease:
Malignant neoplasm of mouth
0.010 GeneticVariation BEFREE To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls. 22052649 2012
dbSNP: rs10900598
rs10900598
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0280313
Disease:
Squamous cell carcinoma of oropharynx
0.010 GeneticVariation BEFREE Three <i>MDM4</i> variant genotypes were significantly associated with HPV16 tumor status among SCCOP patients compared with the common homozygous genotypes (OR, 0.6; 95% CI, 0.4-1.0 for rs10900598; OR, 1.6, 95% CI; 1.1-2.4 for rs1380576; and OR, 1.8, 95% CI, 1.1-2.9 for rs11801299; respectively). 29156829 2017
dbSNP: rs10900598
rs10900598
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0220641
Disease:
Lip and Oral Cavity Carcinoma
0.010 GeneticVariation BEFREE To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls. 22052649 2012
dbSNP: rs10900598
rs10900598
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE We genotyped three MDM4 tagging polymorphisms, two in the 3' untranslated region (rs11801299G>A and rs10900598G>T) and one in intron 1 (rs1380576C>G), in a case-control study of 1075 non-Hispanic white SCCHN patients and 1079 cancer-free controls, and evaluated their associations with SCCHN risk. 21540763 2011
dbSNP: rs116197192
rs116197192
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The D153G substitution only partially segregated with breast cancer in the family and was not identified on additional 680 chromosomes screened. 18279506 2008
dbSNP: rs116197192
rs116197192
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The D153G substitution only partially segregated with breast cancer in the family and was not identified on additional 680 chromosomes screened. 18279506 2008
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associated with higher D'Amico risk prostate cancer category at the time of diagnosis (P = 0.023 and P = 0.046, respectively). 20855462 2010
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0220641
Disease:
Lip and Oral Cavity Carcinoma
0.010 GeneticVariation BEFREE To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls. 22052649 2012
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0153381
Disease:
Malignant neoplasm of mouth
0.010 GeneticVariation BEFREE To explore the role of polymorphisms of p53-related genes in etiology of oral cancer, we investigated joint effects of seven putatively functional polymorphisms of p53 (codon 72 Arg/Pro), p73 (4/14 GC/AT), murine double minute 2 gene (MDM2; A2164G and T2580G) and MDM4 (rs11801299 G > A, rs10900598 G > T and rs1380576 C > G) on risk of human papillomavirus (HPV)16-associated oral cancer in a case-control study with 325 cases and 335 cancer-free controls. 22052649 2012
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Both the Mdm4 and Hausp SNPs (rs1380576 and rs1529916) were found to be associated with higher D'Amico risk prostate cancer category at the time of diagnosis (P = 0.023 and P = 0.046, respectively). 20855462 2010
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our findings proposed that the MDM4 rs1380576 C>G polymorphism was a protective factor for BC risk in our population. 29439926 2018
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0035335
Disease:
Retinoblastoma
0.010 GeneticVariation BEFREE As for rs1380576, a significantly lower risk of developing RB was observed in patients with G allele (CG + GG) compared with wild-type CC genotype (OR = 0.59, 95%CI 0.36-3.95). 30597480 2019
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE We genotyped three MDM4 tagging polymorphisms, two in the 3' untranslated region (rs11801299G>A and rs10900598G>T) and one in intron 1 (rs1380576C>G), in a case-control study of 1075 non-Hispanic white SCCHN patients and 1079 cancer-free controls, and evaluated their associations with SCCHN risk. 21540763 2011
dbSNP: rs1380576
rs1380576
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our findings proposed that the MDM4 rs1380576 C>G polymorphism was a protective factor for BC risk in our population. 29439926 2018
dbSNP: rs2290854
rs2290854
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 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: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE In conclusion, this meta-analysis suggested that rs4245739 polymorphism in the MUC1 gene may play a pivotal role in the pathogenesis of GC, especially for white populations. 28561882 2017
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C1608408
Disease:
Malignant transformation
0.010 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: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian-but not endometrial cancer. 26867771 2016
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0280313
Disease:
Squamous cell carcinoma of oropharynx
0.010 GeneticVariation BEFREE Finally, the significant effects of MDM4 rs4245739</span> polymorphism on survival were found among HPV16-positive SCCOP</span> patients only after the stratified analyses by tumor HPV status. 31513313 2019
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE The MDM4 SNP34091 (rs4245739) C-allele is associated with increased risk of ovarian-but not endometrial cancer. 26867771 2016
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C4721532
Disease:
Lymphoma, Non-Hodgkin, Familial
0.010 GeneticVariation BEFREE The functional TP53 rs1042522 and MDM4 rs4245739 genetic variants contribute to Non-Hodgkin lymphoma risk. 25203442 2014
dbSNP: rs4245739
rs4245739
Entrez Id: 4194
Gene Symbol: MDM4
MDM4
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE In conclusion, this meta-analysis suggested that rs4245739 polymorphism in the MUC1 gene may play a pivotal role in the pathogenesis of GC, especially for white populations. 28561882 2017