DDB2, damage specific DNA binding protein 2, 1643

N. diseases: 118; N. variants: 13
Disease: Squamous cell carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.330 GeneticVariation disease BEFREE These data indicate that the genetic risk is the same for the development of both limbal and nictitating membrane SCC in Haflinger horses and validates utilization of genetic testing of the DDB2 variant for both clinical management and the guidance of mating decisions. 29999543 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.330 GeneticVariation disease BEFREE A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses. 28425625 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.330 AlteredExpression disease BEFREE However, levels of XPC or DDB2 proteins or both were variably reduced in repair-deficient SCC cell lines. p53 levels did not correlate with DNA repair activity or with XPC and DDB2 levels, but p63 levels were deficient in cell lines with reduced global repair. 27499003 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.330 CausalMutation disease CGI