Annotation Detail
Information
- Associated Genes
- ERCC5
- Associated Variants
-
ERCC5 MUTATION
ERCC5 MUTATION - Associated Disease
- cerebrooculofacioskeletal syndrome 1
- Source Database
- DisGeNET
- Description
- ERCC5 is a component of the nucleotide excision repair machinery and biallelic mutations in the gene have previously been associated with xeroderma pigmentosum (group G), Cockayne syndrome and the more severe cerebrooculofacioskeletal syndrome.
- Pubmed
- 24700531
- 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
- 5
- Original source reporting the Gene Disease association
- BeFree,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.240542883744161
Drugs