Annotation Detail
Information
- Associated Genes
- NR1H2
- Associated Variants
-
NR1H2 MUTATION
NR1H2 MUTATION - Associated Disease
- Cockayne syndrome
- Source Database
- DisGeNET
- Description
- This conditions NER efficiency and transcription resumption after damage, which in human cells would explain the XP-CS phenotype, opening new perspectives to understand the molecular basis of the role of XPD in human disease.
- Pubmed
- 25500814
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
Drugs