Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Arg683Trp (p.R683W)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg683Trp (p.R683W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- Xeroderma Pigmentosum, Complementation Group D
- Source Database
- DisGeNET
- Description
- In fact, we demonstrate that the VDR transactivation defect resides in Ets1, another activator that cannot be phosphorylated by TFIIH in XP-D cells.
- Pubmed
- 15494306
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.565428837441606
- Year of publication
- 2004
Drugs