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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
All6 Causal4 Unknown6