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:0031899	HP:0031899	Abnormal coagulation factor V activity	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0031899	HP:0031899	Abnormal coagulation factor V activity	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0031899	HP:0031899	Abnormal coagulation factor V activity	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0031899	HP:0031899	Abnormal coagulation factor V activity	0	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0031899	HP:0031899	Abnormal coagulation factor V activity	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0031899	HP:0031899	Abnormal coagulation factor V activity	0	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0031899	HP:0031899	Abnormal coagulation factor V activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0031899	HP:0011996	Elevated coagulation factor V activity	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0031899	HP:0003225	Reduced coagulation factor V activity	1	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0031899	HP:0003225	Reduced coagulation factor V activity	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0031899	HP:0003225	Reduced coagulation factor V activity	1	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of	.	56
HP:0031899	HP:0003225	Reduced coagulation factor V activity	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0031899	HP:0003225	Reduced coagulation factor V activity	1	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0031899	HP:0003225	Reduced coagulation factor V activity	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110