Cerebro-oculo-facio-skeletal syndrome

Disease Term Disease ID Gene Symbol Classification References Source
COFS SYNDROME
1466MONDO:0008926
ERCC1 Unknown
17273966
ClinVar Orphanet
ERCC2 Unknown
11443545
GWAS catalog Orphanet
ERCC5 Unknown
24700531
CTD Orphanet
ERCC6 Unknown
20301516
Disgenet Orphanet