Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
COMPLEMENT COMPONENT 2 DEFICIENCY	217000 C3150275 MONDO:0009006 OMIM:217000	C2	Causal	1577763 22773339 24029428 9616367	CTD ClinVar Disgenet GWAS catalog HPO
COMPLEMENT COMPONENT 2 DEFICIENCY	217000 C3150275 MONDO:0009006 OMIM:217000	CFB	Unknown	—	Disgenet
COMPLEMENT COMPONENT 3 DEFICIENCY	280133 C1332655 MONDO:0013417	C3	Causal	15781264	ClinVar Disgenet GenCC Orphanet
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE	613779 MESH:C565169	C3	Unknown	—	CTD HPO
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF	120790 C1852700 MESH:C565168	SERPING1	Unknown	—	CTD Disgenet HPO
COMPLEMENT COMPONENT 4A DEFICIENCY	614380 MESH:C565167 MONDO:0013721	C4A	Unknown	15294999 17503323 19279649 26814708 8473511 9796739	CTD ClinVar GWAS catalog HPO
COMPLEMENT COMPONENT 4B DEFICIENCY	614379 C5779962 MONDO:0013720 OMIM:614379	C4B	Causal	10092831 12133986 12626442 15294999 19279649	CTD ClinVar Disgenet GWAS catalog HPO
COMPLEMENT COMPONENT 5 DEFICIENCY	609536 C0343047 MESH:C537005 MONDO:0012295	C5	Causal	19414197 25132214 27026170 7730648	CTD ClinVar Disgenet GWAS catalog HPO
COMPLEMENT COMPONENT 6 DEFICIENCY	612446 C2676232 MESH:C567307 MONDO:0012908	C6	Causal	17257682 23537992 24378253 9472666 9856498	CTD ClinVar Disgenet GWAS catalog HPO
COMPLEMENT COMPONENT 6 DEFICIENCY	612446 C2676232 MESH:C567307 MONDO:0012908	C8B	Causal	—	Disgenet
COMPLEMENT COMPONENT 7 DEFICIENCY	610102 C1864694 MESH:C566443 MONDO:0012412	C7	Causal	1347491 15554930 16771861 17407100 6714987 8871666 8892662 9218625	CTD ClinVar Disgenet GWAS catalog HPO
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I	613790 C3151081 OMIM:613790	C8A	Unknown	—	CTD Disgenet HPO
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	613789 C3151080 OMIM:613789	C8B	Unknown	—	CTD Disgenet HPO
COMPLEMENT COMPONENT 9 DEFICIENCY	613825 MONDO:0013445	C9	Causal	9144525 9570574 9634479	ClinVar HPO Orphanet
COMPLEMENT COMPONENT C1S DEFICIENCY	613783 C3151078 MESH:C565170 MONDO:0013419	C1S	Causal	—	CTD ClinVar Disgenet GenCC HPO
COMPLEMENT COMPONENT C1S DEFICIENCY	613783 C3151078 MESH:C565170 MONDO:0013419	KMT2D	Causal	—	Disgenet
COMPLEMENT DEFICIENCIES	C0272242	C2	Unknown	—	Disgenet
		C4B	Unknown	—	Disgenet
		C8A	Unknown	—	Disgenet
		C8B	Unknown	—	Disgenet
		C9	Unknown	—	Disgenet
COMPLEMENT FACTOR B DEFICIENCY	615561 C3809950 MONDO:0014255 OMIM:615561	CFB	Causal	—	CTD ClinVar Disgenet GenCC HPO
COMPLEMENT FACTOR D DEFICIENCY	613912 C0398764 MESH:C565027	CFD	Unknown	—	CTD Disgenet HPO
COMPLEMENT FACTOR H DEFICIENCY	609814 C0398777 MESH:C562875 MONDO:0012350	CFH	Unknown	11170896 14978182 23870792	CTD Disgenet GWAS catalog HPO
COMPLEMENT FACTOR I DEFICIENCY	610984 C3463916 MESH:C572568 MONDO:0012594	CFI	Unknown	19065647 21316765 22710145	CTD Disgenet GWAS catalog HPO
TYPE I COMPLEMENT COMPONENT 8 DEFICIENCY	MONDO:0013422	C8A	Causal	32769119 9759902	ClinVar Disgenet
TYPE II COMPLEMENT COMPONENT 8 DEFICIENCY	MONDO:0013421	C8B	Causal	19434484 27183977 7594510 8098723	ClinVar Disgenet

Complement component deficiency