rs747619345, ERCC2

N. diseases: 2
Disease: Xeroderma pigmentosum and Cockayne syndrome complex ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Xeroderma pigmentosum and Cockayne syndrome complex
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
0.010 GeneticVariation BEFREE In the present work, we studied cellular DNA repair properties of skin fibro-blasts from two patients mutated in the XPB gene: an XP/CS patient cell (XPCS2BA) with a T296C (F99S) transition and a TTD patient cell (TTD6VI) exhibiting an A355C (T119P) transversion. 10332046 1999