Annotation Detail
Information
- Associated Genes
- NR1H2
- Associated Variants
-
NR1H2 MUTATION
NR1H2 MUTATION - Associated Disease
- xeroderma pigmentosum
- Source Database
- DisGeNET
- Description
- Mutations in nucleotide excision repair (NER) genes are the cause of xeroderma pigmentosum, a genetic syndrome with proneness to basal cell carcinoma (BCC) of the skin.
- Pubmed
- 25209577
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00515739556952576
Drugs