Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 MUTATION
ERCC2 MUTATION - Associated Disease
- xeroderma pigmentosum
- Source Database
- DisGeNET
- Description
- The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes.
- Pubmed
- 25500814
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.0347182723644788
Drugs