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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
INTERMEDIATE SEVERE SALLA DISEASE SLC17A5 Causal Disgenet, GWAS catalog, Orphanet
SALLA DISEASE SLC17A5 Causal ClinVar, Disgenet, GenCC, HPO, Orphanet
RAG2 Unknown — Disgenet
All2 Causal1 Unknown1