Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CONGENITAL NEUTROPENIA	C0340970	TCIRG1	Unknown	—	Disgenet
CONGENITAL NEUTROPENIA, MYELOFIBROSIS, NEPHROMEGALY SYNDROME	C4755251	VPS45	Unknown	—	Disgenet
CONGENITAL NEUTROPENIA-COMBINED IMMUNODEFICIENCY DUE TO MKL1 DEFICIENCY	619941	MRTFA	Unknown	32128589	Orphanet
CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME	369852 MONDO:0014118	VPS45	Causal	23599270 23738510 26358756	ClinVar GWAS catalog Orphanet
CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME	369852 MONDO:0014118	RBSN	Unknown	29784638	GWAS catalog
SEVERE CONGENITAL NEUTROPENIA	C1853118 MONDO:0018542	CSF3R	Causal	—	Disgenet
		FCHO1	Causal	—	Disgenet
		HAX1	Causal	—	Disgenet
		JAGN1	Causal	—	Disgenet
		SRP19	Causal	—	Disgenet
		SRPRA	Causal	—	Disgenet
		VPS45	Causal	—	Disgenet
		CLPB	Unknown	—	Disgenet
		ELANE	Unknown	—	Disgenet
		G6PC3	Unknown	—	Disgenet
		GFI1	Unknown	11810106 12530980 12778173 16500901 19775295 20560965 32066420 36112213	CTD Disgenet
		SEC61A1	Unknown	—	Disgenet
		SRP68	Unknown	—	Disgenet
SEVERE CONGENITAL NEUTROPENIA DUE TO G6PC3 DEFICIENCY	331176	G6PC3	Unknown	19118303 20799326 23018568	Orphanet
SEVERE CONGENITAL NEUTROPENIA DUE TO JAGN1 DEFICIENCY	423384	JAGN1	Unknown	25129144	Orphanet
SEVERE CONGENITAL NEUTROPENIA TYPE 6, AUTOSOMAL RECESSIVE	C4014954	JAGN1	Unknown	—	Disgenet
SEVERE CONGENITAL NEUTROPENIA-DEVELOPMENTAL DELAY SYNDROME DUE TO SRP54 DEFICIENCY	675767	SRP54	Unknown	29914977 30237254	Orphanet
SEVERE CONGENITAL NEUTROPENIA-DEVELOPMENTAL DELAY-PANCREATIC INSUFFICIENCY SYNDROME DUE TO SIGNAL RECOGNITION PROTEIN 54 DEFICIENCY	C5925083	SRP54	Unknown	—	Disgenet

Congenital neutropenia