MDM4, MDM4 regulator of p53, 4194

N. diseases: 265; N. variants: 9
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 		0.500 GeneticVariation disease BEFREE We conclude, MDM4 SNP34091 status to be associated with reduced risk of breast cancer, in particular in individuals carrying the MDM2 SNP309GG genotype, but not to be associated with either lung-, colon- or prostate cancer. 26471763 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE It is unknown, however, whether MDM4 gene alterations play some role in the inherited component of breast cancer susceptibility. 18279506 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE Genes encoding proteins that have key functions in the DNA damage response, such as p53 and its inhibitors MDM2 and MDMX, are most likely candidates to harbor allelic variants that influence breast cancer susceptibility. 30956778 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE This study evaluated the association of a SNP in human MDM4 (C>T) with age of onset of breast cancer in two independent cohorts. 19762336 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease 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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE Our findings proposed that the MDM4 rs1380576 C>G polymorphism was a protective factor for BC risk in our population. 29439926 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease BEFREE Genetic variability in the multidrug resistance associated protein-1 (ABCC1/MRP1) predicts hematological toxicity in breast cancer patients receiving (neo-)adjuvant chemotherapy with 5-fluorouracil, epirubicin and cyclophosphamide (FEC). 23396606 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.500 GeneticVariation disease GWASDB Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE It is unknown, however, whether MDM4 gene alterations play some role in the inherited component of breast cancer susceptibility. 18279506 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease GWASCAT Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 23535733 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE Genes encoding proteins that have key functions in the DNA damage response, such as p53 and its inhibitors MDM2 and MDMX, are most likely candidates to harbor allelic variants that influence breast cancer susceptibility. 30956778 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE This study evaluated the association of a SNP in human MDM4 (C>T) with age of onset of breast cancer in two independent cohorts. 19762336 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE Our findings proposed that the MDM4 rs1380576 C>G polymorphism was a protective factor for BC risk in our population. 29439926 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE Genetic variability in the multidrug resistance associated protein-1 (ABCC1/MRP1) predicts hematological toxicity in breast cancer patients receiving (neo-)adjuvant chemotherapy with 5-fluorouracil, epirubicin and cyclophosphamide (FEC). 23396606 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease BEFREE We conclude, MDM4 SNP34091 status to be associated with reduced risk of breast cancer, in particular in individuals carrying the MDM2 SNP309GG genotype, but not to be associated with either lung-, colon- or prostate cancer. 26471763 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease GWASCAT Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease GWASDB Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 23544013 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease GWASCAT Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. 27117709 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.500 GeneticVariation disease 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
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.400 GeneticVariation disease BEFREE Association of rs11801299 and rs1380576 polymorphisms at MDM4 with risk, clinicopathological features and prognosis in patients with retinoblastoma. 30597480 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.400 GeneticVariation disease BEFREE Our results indicate that MDM2 and MDM4 polymorphisms may influence development and/or survival in RB. 22180099 2012
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.380 GeneticVariation group BEFREE Our meta-analysis indicates that the HDMX polymorphism is unlikely to contribute to individual susceptibility to sarcoma. 24972690 2014
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.340 GeneticVariation group LHGDN Mutation analysis of the MDM4 gene in German breast cancer patients. 18279506 2008
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 GeneticVariation disease BEFREE These results suggest that MRP1 polymorphisms may be a predictive marker of citalopram treatment in major depression. 20520284 2010
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.310 GeneticVariation disease BEFREE These results suggest that MRP1 polymorphisms may be a predictive marker of citalopram treatment in major depression. 20520284 2010