TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		0.020 Biomarker disease BEFREE The mouse model of XP-E demonstrated that DDB2 was well conserved between mouse and human and was critical in controlling proper cell-survival through regulating the tumor suppressor p53-mediated responses after ultraviolet (UV)-irradiation: i.e. defective DDB2 causes the resistance to cell-killing by UV-irradiation due to decreased p53-mediated apoptosis. 16325378 2006
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		0.020 AlteredExpression disease BEFREE We report here that XP-E strains are defective in UV irradiation-induced apoptosis due to severely reduced basal and UV-induced p53 levels. 14560002 2003