Congenital neutropenia | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL NEUTROPENIA	C0340970	TCIRG1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +14 more
CONGENITAL NEUTROPENIA, MYELOFIBROSIS, NEPHROMEGALY SYNDROME	C4755251	VPS45	Unknown	—	Disgenet	Endocytosis Intra-Golgi traffic Factors involved in megakaryocyte development and platelet production
CONGENITAL NEUTROPENIA-COMBINED IMMUNODEFICIENCY DUE TO MKL1 DEFICIENCY	619941	MRTFA	Unknown	32128589	Orphanet	SUMOylation of transcription cofactors RHO GTPases Activate Formins
CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME	369852 MONDO:0014118	VPS45	Causal	23599270 23738510 26358756	ClinVar, GWAS catalog, Orphanet	Endocytosis Intra-Golgi traffic Factors involved in megakaryocyte development and platelet production
CONGENITAL NEUTROPENIA-MYELOFIBROSIS-NEPHROMEGALY SYNDROME	369852 MONDO:0014118	RBSN	Unknown	29784638	GWAS catalog	Endocytosis Toll Like Receptor 9 (TLR9) Cascade Factors involved in megakaryocyte development and platelet production
SEVERE CONGENITAL NEUTROPENIA	C1853118 MONDO:0018542	CSF3R	Causal	19620628 26324699 29070147 24753537	Disgenet	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway JAK-STAT signaling pathway +3 more
		FCHO1	Causal	—	Disgenet	Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
		HAX1	Causal	—	Disgenet	—
		JAGN1	Causal	—	Disgenet	—
		SRP19	Causal	—	Disgenet	Protein export SRP-dependent cotranslational protein targeting to membrane
		SRPRA	Causal	—	Disgenet	Protein export XBP1(S) activates chaperone genes
		VPS45	Causal	—	Disgenet	Endocytosis Intra-Golgi traffic Factors involved in megakaryocyte development and platelet production
		CLPB	Unknown	—	Disgenet	Longevity regulating pathway - multiple species
		ELANE	Unknown	—	Disgenet	Neutrophil extracellular trap formation Transcriptional misregulation in cancer Systemic lupus erythematosus +5 more
		G6PC3	Unknown	—	Disgenet	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +11 more
		GFI1	Unknown	11810106 12530980 12778173 16500901 19775295 20560965 32066420 36112213	CTD, Disgenet	—
		SEC61A1	Unknown	—	Disgenet	Protein export Protein processing in endoplasmic reticulum Phagosome +1 more
		SRP68	Unknown	—	Disgenet	Protein export SRP-dependent cotranslational protein targeting to membrane
SEVERE CONGENITAL NEUTROPENIA DUE TO G6PC3 DEFICIENCY	331176	G6PC3	Unknown	19118303 20799326 23018568	Orphanet	Glycolysis / Gluconeogenesis Galactose metabolism Starch and sucrose metabolism +11 more
SEVERE CONGENITAL NEUTROPENIA DUE TO JAGN1 DEFICIENCY	423384	JAGN1	Unknown	25129144	Orphanet	—
SEVERE CONGENITAL NEUTROPENIA TYPE 6, AUTOSOMAL RECESSIVE	C4014954	JAGN1	Unknown	25129144	Disgenet	—
SEVERE CONGENITAL NEUTROPENIA-DEVELOPMENTAL DELAY SYNDROME DUE TO SRP54 DEFICIENCY	675767	SRP54	Unknown	29914977 30237254	Orphanet	Protein export SRP-dependent cotranslational protein targeting to membrane
SEVERE CONGENITAL NEUTROPENIA-DEVELOPMENTAL DELAY-PANCREATIC INSUFFICIENCY SYNDROME DUE TO SIGNAL RECOGNITION PROTEIN 54 DEFICIENCY	C5925083	SRP54	Unknown	—	Disgenet	Protein export SRP-dependent cotranslational protein targeting to membrane