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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CEREBROOCULOFACIOSKELETAL SYNDROME 1 ERCC6 Causal CTD, ClinVar, Disgenet, HPO
CEREBROOCULOFACIOSKELETAL SYNDROME 2 ERCC2 Causal CTD, ClinVar, Disgenet, HPO
CEREBROOCULOFACIOSKELETAL SYNDROME 3 ERCC5 Causal CTD, ClinVar, Disgenet, GWAS catalog, HPO
CEREBROOCULOFACIOSKELETAL SYNDROME 4 ERCC1 Causal CTD, ClinVar, Disgenet, HPO
All6 Causal4 Unknown6