rs747619345, ERCC2

N. diseases: 2
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
Trichothiodystrophy Syndromes
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
0.010 GeneticVariation BEFREE This con-stitutes a model system allowing us to correlate the relative expression levels of the XPB-A355C (TTD) and XPB-T296C (XP/CS) genes with various DNA repair properties. 10332046 1999