Cerebrooculofacioskeletal syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CEREBRO-OCULO-FACIO-SKELETAL SYNDROME | ERCC1 | Unknown | — | Disgenet | ||
| ERCC2 | Unknown | — | Disgenet | |||
| ERCC5 | Unknown | — | Disgenet | |||
| ERCC6 | Unknown | — | Disgenet | |||
| CEREBROOCULOFACIOSKELETAL SYNDROME 1 | ERCC2 | Unknown | — | Disgenet | ||
| PGBD3 | Unknown | — | Disgenet | — | ||
| CEREBROOCULOFACIOSKELETAL SYNDROME 3 | BIVM-ERCC5 | Unknown | — | Disgenet | ||
| COFS SYNDROME | ERCC1 | Unknown | ClinVar, Orphanet | |||
| ERCC2 | Unknown | GWAS catalog, Orphanet | ||||
| ERCC5 | Unknown | CTD, Orphanet | ||||
| ERCC6 | Unknown | Disgenet, Orphanet |