Annotation Detail
Information
- Associated Genes
- ERCC5
- Associated Variants
-
ERCC5 MUTATION
ERCC5 MUTATION - Associated Disease
- xeroderma pigmentosum
- Source Database
- DisGeNET
- Description
- We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex.
- Pubmed
- 24354460
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 5
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.00978183891655506
Drugs