Annotation Detail

Information
Associated Genes
ERCC2
Associated Variants
ERCC2 MUTATION
ERCC2 MUTATION
Associated Disease
Trichothiodystrophy Syndromes
Source Database
DisGeNET
Description
Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.
Pubmed
25340339
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