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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
DESBUQUOIS DYSPLASIA 1 CANT1 Causal CTD, ClinGen, ClinVar, Disgenet, HPO
XYLT1 Causal — Disgenet
DESBUQUOIS DYSPLASIA 2 XYLT1 Causal ClinVar, Disgenet, GWAS catalog, HPO
All3 Causal2 Unknown3