Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CHRONIC GRANULOMATOUS DISEASE	379 C0018203 MONDO:0018305	CYBA	Causal	22876374	Disgenet, GWAS catalog, Orphanet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more
		CYBB	Causal	22876374	Disgenet, GWAS catalog, Orphanet	HIF-1 signaling pathway Phagosome Ferroptosis +18 more
		NCF1	Causal	22876374	Disgenet, Orphanet	Chemokine signaling pathway Phagosome Osteoclast differentiation +14 more
		NCF2	Causal	22876374	Disgenet, Orphanet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +12 more
		NCF4	Causal	22876374	CTD, Disgenet, Orphanet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +10 more
		CYBC1	Unknown	30361506	CTD, Disgenet, Orphanet	—
		G6PD	Unknown	—	Disgenet	Pentose phosphate pathway Glutathione metabolism Metabolic pathways +5 more
		IFNG	Unknown	—	Disgenet	Proteasome Cytokine-cytokine receptor interaction HIF-1 signaling pathway +33 more
		RNF157	Unknown	—	Disgenet	—
GRANULOMATOUS DISEASE, CHRONIC	MESH:D006105	CYBA	Unknown	2243141	CTD	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more
		CYBB	Unknown	11045425 11122248 11498749	CTD	HIF-1 signaling pathway Phagosome Ferroptosis +18 more
		G6PD	Unknown	4125296	CTD	Pentose phosphate pathway Glutathione metabolism Metabolic pathways +5 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1	233700	NCF1	Unknown	—	HPO	Chemokine signaling pathway Phagosome Osteoclast differentiation +14 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2	233710	NCF2	Unknown	—	HPO	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +12 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3	613960 C3151409 OMIM:613960	NCF4	Unknown	—	CTD, Disgenet, HPO	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +10 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4	233690 C1856255	CYBA	Unknown	—	Disgenet, HPO	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5	618935 C5394542 MONDO:0030066	CYBC1	Causal	28351984 28600779 30312704 30361506 37055004	ClinVar, Disgenet, GWAS catalog, HPO	—
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE	MESH:C565533 MONDO:0009308	CYBA	Causal	2770793 2243141	CTD, ClinVar, GWAS catalog	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 1	MONDO:0009309	NCF1	Causal	10706888 11133775 16972229 18546332 2011585 20167518 24943880 25188296 26185101 26680691	ClinVar, Disgenet	Chemokine signaling pathway Phagosome Osteoclast differentiation +14 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 2	MONDO:0009310	NCF2	Causal	—	ClinVar, GenCC	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +12 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 3	MONDO:0013507	NCF4	Causal	16880254 19692703 20167518	ClinVar, GWAS catalog	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +10 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I	C1856251 MESH:C565532	NCF1	Unknown	—	CTD, Disgenet	Chemokine signaling pathway Phagosome Osteoclast differentiation +14 more
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II	C1856245 MESH:C565531	NCF2	Unknown	—	CTD, Disgenet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +12 more
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	306400 C1844376 MONDO:0010600	CYBB	Causal	—	ClinVar, Disgenet, GenCC, HPO	HIF-1 signaling pathway Phagosome Ferroptosis +18 more
		NCF1	Causal	—	Disgenet	Chemokine signaling pathway Phagosome Osteoclast differentiation +14 more
		CYBA	Unknown	—	Disgenet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +15 more

Granulomatous disease

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