Annotation Detail

Information
Associated Genes
NR1H2
Associated Variants
NR1H2 MUTATION
NR1H2 MUTATION
Associated Disease
xeroderma pigmentosum
Source Database
DisGeNET
Description
Although the roles of XPs in the GG-NER/TC-NER subpathways have been extensively studied, complete knowledge of their three-dimensional structure is only beginning to emerge.
Pubmed
25795128
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00515739556952576
Drugs