DDB2, damage specific DNA binding protein 2, 1643

N. diseases: 118; N. variants: 13
Disease: Malignant neoplasm of skin ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 GeneticVariation disease BEFREE We found that skin fibroblasts from four newly reported XP-E patients with numerous skin cancers and DDB2 mutations had slow repair of 6-4 photoproducts (6-4PP) and markedly reduced repair of cyclobutane pyrimidine dimers (CPD). 21388382 2011
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.020 GeneticVariation disease BEFREE Mutations in the DDB2 gene inactivate UV-DDB in individuals from complementation group E of xeroderma pigmentosum (XP-E), an autosomal recessive disease characterized by sun sensitivity, severe risk for skin cancer and defective nucleotide excision repair. 12509284 2002