Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 MUTATION
ERCC2 MUTATION - Associated Disease
- Skin Diseases, Genetic
- Source Database
- DisGeNET
- Description
- Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive TTD and is a very rare genodermatosis with deficient post-ultraviolet (UV) DNA repair.
- Pubmed
- 24986372
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs