Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CHRONIC GRANULOMATOUS DISEASE	379 C0018203 MONDO:0018305	CYBA	Causal	22876374	Disgenet GWAS catalog Orphanet
		CYBB	Causal	22876374	Disgenet GWAS catalog Orphanet
		NCF1	Causal	22876374	Disgenet Orphanet
		NCF2	Causal	22876374	Disgenet Orphanet
		NCF4	Causal	22876374	CTD Disgenet Orphanet
		CYBC1	Unknown	30361506	CTD Disgenet Orphanet
		G6PD	Unknown	—	Disgenet
		IFNG	Unknown	—	Disgenet
		RNF157	Unknown	—	Disgenet
GRANULOMATOUS DISEASE, CHRONIC	MESH:D006105	CYBA	Unknown	2243141	CTD
		CYBB	Unknown	11045425 11122248 11498749	CTD
		G6PD	Unknown	4125296	CTD
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1	233700	NCF1	Unknown	—	HPO
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2	233710	NCF2	Unknown	—	HPO
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3	613960 C3151409 OMIM:613960	NCF4	Unknown	—	CTD Disgenet HPO
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4	233690 C1856255	CYBA	Unknown	—	Disgenet HPO
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
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
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 2	MONDO:0009310	NCF2	Causal	—	ClinVar GenCC
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE 3	MONDO:0013507	NCF4	Causal	16880254 19692703 20167518	ClinVar GWAS catalog
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I	C1856251 MESH:C565532	NCF1	Unknown	—	CTD Disgenet
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II	C1856245 MESH:C565531	NCF2	Unknown	—	CTD Disgenet
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED	306400 C1844376 MONDO:0010600	CYBB	Causal	—	ClinVar Disgenet GenCC HPO
		NCF1	Causal	—	Disgenet
		CYBA	Unknown	—	Disgenet

Granulomatous disease