Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Arg616Trp (p.R616W)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg616Trp (p.R616W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- cerebrooculofacioskeletal syndrome 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.240542883744161
- Year of publication
- NA
Drugs