Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040283 - Occasional	140
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040283 - Occasional	140
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040283 - Occasional	3
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040283 - Occasional	2
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency		132
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency		28
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0010989	HP:0010989	Abnormality of the intrinsic pathway	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0010989	HP:0005527	Reduced kininogen activity	1	CL E G H
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0010989	HP:0001929	Reduced factor XI activity	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0010989	HP:0001929	Reduced factor XI activity	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0010989	HP:0001929	Reduced factor XI activity	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0010989	HP:0001929	Reduced factor XI activity	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0010989	HP:0001929	Reduced factor XI activity	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0010989	HP:0001929	Reduced factor XI activity	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010989	HP:0004841	Reduced factor XII activity	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional	38
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0010989	HP:0001929	Reduced factor XI activity	1	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0010989	HP:0001929	Reduced factor XI activity	1	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency	.	132
HP:0010989	HP:0004841	Reduced factor XII activity	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040281 - Very frequent	28
HP:0010989	HP:0004841	Reduced factor XII activity	1	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0010989	HP:0033062	Abnormal factor IX activity	1	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0010989	HP:0033062	Abnormal factor IX activity	1	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0010989	HP:0033062	Abnormal factor IX activity	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0010989	HP:0033062	Abnormal factor IX activity	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0010989	HP:0001929	Reduced factor XI activity	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0010989	HP:0004841	Reduced factor XII activity	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0010989	HP:0033062	Abnormal factor IX activity	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0010989	HP:0004841	Reduced factor XII activity	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0010989	HP:0001929	Reduced factor XI activity	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0010989	HP:0001929	Reduced factor XI activity	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0010989	HP:0001929	Reduced factor XI activity	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0010989	HP:0001929	Reduced factor XI activity	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0010989	HP:0001929	Reduced factor XI activity	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional	58
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0010989	HP:0001929	Reduced factor XI activity	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0010989	HP:0001929	Reduced factor XI activity	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0010989	HP:0033062	Abnormal factor IX activity	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0010989	HP:0004841	Reduced factor XII activity	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040281 - Very frequent	88
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010989	HP:0004841	Reduced factor XII activity	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010989	HP:0001929	Reduced factor XI activity	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010989	HP:0033062	Abnormal factor IX activity	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0010989	HP:0001929	Reduced factor XI activity	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0010989	HP:0001976	Reduced antithrombin III activity	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80
HP:0010989	HP:0033062	Abnormal factor IX activity	1	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0010989	HP:0030976	Abnormal factor VIII activity	1	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0010989	HP:0003125	Reduced factor VIII activity	2	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040281 - Very frequent	303
HP:0010989	HP:0003125	Reduced factor VIII activity	2	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0010989	HP:0003125	Reduced factor VIII activity	2	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040281 - Very frequent	303
HP:0010989	HP:0003125	Reduced factor VIII activity	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040281 - Very frequent	303
HP:0010989	HP:0030977	Increased factor VIII activity	2	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0010989	HP:0011858	Reduced factor IX activity	2	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0010989	HP:0033061	Increased factor IX activity	2	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0010989	HP:0011858	Reduced factor IX activity	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0010989	HP:0011858	Reduced factor IX activity	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0010989	HP:0003125	Reduced factor VIII activity	2	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0010989	HP:0003125	Reduced factor VIII activity	2	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of	.	56
HP:0010989	HP:0003125	Reduced factor VIII activity	2	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0010989	HP:0003125	Reduced factor VIII activity	2	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0010989	HP:0011858	Reduced factor IX activity	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0010989	HP:0011858	Reduced factor IX activity	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0010989	HP:0011858	Reduced factor IX activity	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0010989	HP:0003125	Reduced factor VIII activity	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0010989	HP:0011858	Reduced factor IX activity	2	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	.	25
HP:0010989	HP:0003125	Reduced factor VIII activity	2	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0010989	HP:0003125	Reduced factor VIII activity	2	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533