Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT SEVERE CONGENITAL NEUTROPENIA	486 C4749612 MONDO:0008742	CLPB	Unknown	34115842	Orphanet
		ELANE	Unknown	—	GenCC Orphanet
		GFI1	Unknown	12778173	GWAS catalog Orphanet
		SRP19	Unknown	36223592	Orphanet
		SRP54	Unknown	29914977	GWAS catalog
		TCIRG1	Unknown	24753205	ClinVar Orphanet
AUTOSOMAL RECESSIVE SCN	C5447331	SMARCD2	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE SECONDARY POLYCYTHEMIA NOT ASSOCIATED WITH VHL GENE	C5191076	BPGM	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO C-X-C MOTIF CHEMOKINE RECEPTOR 2 DEFICIENCY	C5190862	CXCR2	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO CSF3R DEFICIENCY	420702 C5190863 MONDO:0014865	CSF3R	Causal	24753537	ClinVar Disgenet GenCC Orphanet
AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO CXCR2 DEFICIENCY	420699 MONDO:0018487	CXCR2	Unknown	24777453	GenCC Orphanet
AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO G6PC3 DEFICIENCY	MONDO:0012930	G6PC3	Causal	—	ClinGen ClinVar GenCC
AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO JAGN1 DEFICIENCY	MONDO:0014456	JAGN1	Causal	25129144	ClinVar GWAS catalog
NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT	202700 MONDO:0042490	ELANE	Causal	—	ClinVar HPO
NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE	620534 C5882756 MONDO:0957809	SRP68	Causal	32273475	ClinVar Disgenet HPO
NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE	620534 C5882756 MONDO:0957809	GALR2	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT	620674 C5882742 MONDO:0958017	SEC61A1	Causal	—	ClinVar Disgenet HPO
NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT	620674 C5882742 MONDO:0958017	RUVBL1	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT	613107 MONDO:0013139	GFI1	Causal	12778173 16500901 18328744 19278956 19775295 22552881	ClinVar GWAS catalog HPO
NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE	610738	HAX1	Unknown	—	HPO
NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE	612541	G6PC3	Unknown	—	HPO
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	C3809031 615285 OMIM:615285	RBSN	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	C3809031 615285 OMIM:615285	VPS45	Unknown	—	CTD Disgenet HPO
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE	616022 OMIM:616022	JAGN1	Unknown	—	CTD HPO
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE	617014 C4310764 OMIM:617014	CSF3R	Unknown	—	CTD Disgenet HPO
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE	617014 C4310764 OMIM:617014	PIP4K2B	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT	618752 C5203411 MONDO:0032899	SRP54	Causal	28972538 29914977 29956078 33839879 34549814	ClinVar Disgenet GWAS catalog HPO
NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT	618752 C5203411 MONDO:0032899	GATA6	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT	619813 C5676954 MONDO:0030726	CLPB	Causal	34115842 34140661	CTD ClinVar Disgenet HPO
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1	C1859966 MESH:C565969	CFD	Unknown	—	Disgenet
		ELANE	Unknown	—	CTD Disgenet
		TCIRG1	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	C2751288 MESH:C567748	CLPB	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2	C2751288 MESH:C567748	GFI1	Unknown	—	CTD Disgenet
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3	C5235141 MESH:C537592	HAX1	Unknown	—	CTD Disgenet
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3	C5235141 MESH:C537592	VPS45	Unknown	23599270	CTD Disgenet
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 4	MESH:C567260	G6PC3	Unknown	—	CTD
NEUTROPENIA, SEVERE CONGENITAL, X-LINKED	C1845987 300299 MESH:C564539	ELANE	Unknown	—	Disgenet
NEUTROPENIA, SEVERE CONGENITAL, X-LINKED	C1845987 300299 MESH:C564539	WAS	Unknown	17724125	CTD Disgenet HPO

Severe congenital neutropenia