Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 MUTATION
ERCC2 MUTATION - Associated Disease
- xeroderma pigmentosum
- Source Database
- DisGeNET
- Description
- Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigmentosum (XP), Cockayne syndrome (XP/CS) and trichothiodystrophy (TTD), and only XP patients have a high predisposition to developing cancer.
- Pubmed
- 25431422
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0347182723644788
Drugs