Cockayne syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| COCKAYNE SPECTRUM WITH OR WITHOUT CEREBROOCULOFACIOSKELETAL SYNDROME | ERCC6 | Causal | ClinGen, Disgenet | |||
| COCKAYNE SYNDROME | ERCC4 | Causal | — | Disgenet | ||
| ERCC6 | Causal | CTD, Disgenet | ||||
| ERCC8 | Causal | CTD, Disgenet | ||||
| COCKAYNE SYNDROME TYPE 1 | ERCC8 | Causal | ClinGen, ClinVar, GenCC, Orphanet | |||
| COCKAYNE SYNDROME TYPE 2 | ERCC6 | Causal | ClinVar, GenCC, Orphanet |