Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE 1A	MONDO:0009135	CDAN1	Causal	—	ClinGen ClinVar GenCC
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA	224120 C5574667	CDAN1	Unknown	—	Disgenet HPO
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IB	615631 C3810185	CDIN1	Unknown	—	Disgenet HPO
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II	224100	SEC23B	Unknown	—	HPO
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIA	105600 C5676874	KIF23	Unknown	—	Disgenet HPO
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIB	C5677049	RACGAP1	Causal	—	Disgenet
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIB, AUTOSOMAL RECESSIVE	619789 C5676940 MONDO:0030711	RACGAP1	Causal	—	ClinVar Disgenet HPO
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVA	613673	KLF1	Unknown	—	HPO
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IVB	620969 MONDO:0975829	KLF1	Causal	—	ClinVar HPO
ANEMIA, DYSERYTHROPOIETIC, CONGENITAL	MESH:D000742	CDAN1	Unknown	—	CTD
		CDIN1	Unknown	—	CTD
		KIF23	Unknown	—	CTD
		KLF1	Unknown	—	CTD
		SEC23B	Unknown	19561605	CTD
CONGENITAL DYSERYTHROPOIETIC ANEMIA	C0002876 MONDO:0019403	IRAK4	Causal	—	Disgenet
		CDAN1	Unknown	—	Disgenet GenCC
		CDIN1	Unknown	—	Disgenet
		KIF23	Unknown	—	Disgenet
		KLF1	Unknown	—	Disgenet
		SEC23B	Unknown	—	Disgenet GenCC
		UBE2Q2	Unknown	—	Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 1	MONDO:0020337	CDAN1	Unknown	—	GenCC
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 1	MONDO:0020337	CDIN1	Unknown	23716552	GWAS catalog
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 2	MONDO:0009134	SEC23B	Unknown	19621418 19561605	CTD ClinGen
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 3	MONDO:0007109	KIF23	Unknown	—	GenCC
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE 4	MONDO:0013355	KLF1	Causal	21055716	ClinVar Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I	98869	CDAN1	Unknown	—	Orphanet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I	98869	CDIN1	Unknown	23716552	Orphanet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II	98873	SEC23B	Unknown	—	Orphanet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III	98870	KIF23	Unknown	23570799	Orphanet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III	98870	RACGAP1	Unknown	—	Orphanet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV	C3150926 293825	GCDH	Unknown	—	Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV	C3150926 293825	KLF1	Unknown	—	Disgenet Orphanet
CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE TYPE 1B	MONDO:0014285	CDIN1	Causal	23716552 29049846	ClinVar Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE I	C0271933	CDAN1	Causal	—	ClinVar Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE I	C0271933	CDIN1	Unknown	—	Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE II	C1306589	SEC23B	Causal	—	ClinVar Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE III	C0271934	KIF23	Causal	—	ClinVar Disgenet
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE III	C0271934	RACGAP1	Unknown	—	Disgenet
CONGENITAL HEART DEFECTS	C0018798	ABCB1	Unknown	—	Disgenet

Congenital dyserythropoietic anemia