DDB2, damage specific DNA binding protein 2, 1643

N. diseases: 118; N. variants: 13
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 		1.000 Biomarker disease CTD_human α-N-methylation of damaged DNA-binding protein 2 (DDB2) and its function in nucleotide excision repair. 24753253 2014
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 AlteredExpression disease BEFREE These results, coupled with our findings that most, if not all DDB(+) cells classified as XP-E were misclassified, suggests a direct correlation between DDB2 levels and the XP-E phenotype. 11704828 2001
CUI: C1848411
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		1.000 CausalMutation disease CLINVAR