Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 MUTATION
ERCC2 MUTATION - Associated Disease
- Premature aging syndrome
- Source Database
- DisGeNET
- Description
- To further grasp the molecular mechanisms that govern transcription, we focused our attention on the general transcription factor TFIIH, which gives rise, once mutated, to Trichothiodystrophy (TTD), a rare autosomal premature-ageing disease causing inter alia, metabolic dysfunctions.
- Pubmed
- 25340339
- 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
- 0.000542883744160607
Drugs