MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Disease: Ataxia Telangiectasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.040 Biomarker disease BEFREE Observation of an altered p53 ubiquitination pattern and Mdm2 accumulation in ActD-treated AT and NBS T-cells provided a mechanistic link to their defective extranuclear p53 localization. 20947454 2010
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.040 AlteredExpression disease BEFREE Mdm2's oncogenic activity is mainly mediated by p53, which is activated by various stresses, especially genotoxic stress, via Atm (ataxia telangiectasia mutated) and Atr (Atm and Rad3-related). 21213101 2010
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.040 AlteredExpression disease BEFREE Low levels of Atm (ataxia telangiectasia mutated) or high levels of Mdm2 (murine double minute 2) did not prevent Nutlin-3a from inducing apoptosis. 16543464 2006
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.040 PosttranslationalModification disease BEFREE In p53 wild-type cells, HDM2 phosphorylation precedes a detectable increase in the levels of p53 and is not observed in ataxia telangiectasia (AT) fibroblasts. 11175332 2000