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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CHRONIC GRANULOMATOUS DISEASE CYBA Causal Disgenet, GWAS catalog, Orphanet
CYBB Causal Disgenet, GWAS catalog, Orphanet
NCF1 Causal Disgenet, Orphanet
NCF2 Causal Disgenet, Orphanet
NCF4 Causal CTD, Disgenet, Orphanet
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5 CYBC1 Causal ClinVar, Disgenet, GWAS catalog, HPO —
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE CYBA Causal CTD, ClinVar, GWAS catalog
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 1 NCF1 Causal ClinVar, Disgenet
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 2 NCF2 Causal — ClinVar, GenCC
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 3 NCF4 Causal ClinVar, GWAS catalog
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED CYBB Causal — ClinVar, Disgenet, GenCC, HPO
NCF1 Causal — Disgenet
All9 Causal6 Unknown9