Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 MUTATION
ERCC1 MUTATION - Associated Disease
- Xeroderma pigmentosum, group A
- Source Database
- DisGeNET
- Description
- Because protein-protein interactions are essential for NER activity, we transfected human cancer cell lines (A549 and HCT116) with plasmids coding the amino acid sequences corresponding to the interacting domains between excision repair cross-complementation group 1 (ERCC1) and xeroderma pigmentosum, complementation group A (XPA), as well as ERCC1 and xeroderma pigmentosum, complementation group F (XPF), all NER proteins.
- Pubmed
- 25115435
- 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
- DisGENET score for the Gene Disease association
- 0.00162865123248182
Drugs