Annotation Detail

Information
Associated Genes
ERCC2
Associated Variants
ERCC2 MUTATION
ERCC2 MUTATION
Associated Disease
xeroderma pigmentosum
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,GAD,LHGDN
DisGENET score for the Gene Disease association
0.0347182723644788
Drugs