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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
GAUCHER DISEASE GBA1 Causal CTD, ClinGen, ClinVar, Disgenet, GenCC —
PRX Causal — Disgenet
GAUCHER DISEASE DUE TO SAPOSIN C DEFICIENCY PSAP Causal ClinGen, ClinVar, GWAS catalog
GAUCHER DISEASE PERINATAL LETHAL GBA1 Causal — ClinVar, GenCC —
GAUCHER DISEASE TYPE I GBA1 Causal — ClinVar, GenCC —
GAUCHER DISEASE TYPE II GBA1 Causal — ClinVar, GenCC —
GAUCHER DISEASE TYPE III GBA1 Causal — ClinVar, GenCC —
All17 Causal3 Unknown16