Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 MUTATION
ERCC1 MUTATION - Associated Disease
- Pena Shokeir syndrome Type 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- ORPHANET
- DisGENET score for the Gene Disease association
- 0.12
Drugs