Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 MUTATION
ERCC2 MUTATION - Associated Disease
- Trichothiodystrophy Syndromes
- Source Database
- DisGeNET
- Description
- TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
- Pubmed
- 25620205
- 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,ORPHANET
- DisGENET score for the Gene Disease association
- 0.1379151635573
Drugs