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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CAMPOMELIC DYSPLASIA SOX9 Unknown CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL SOX9 Causal Disgenet, ClinGen
All1 Causal1 Unknown1