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:0031863	HP:0031863	Bloodstream infectious agent	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0031863	HP:0031863	Bloodstream infectious agent	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031863	HP:0031863	Bloodstream infectious agent	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0031863	HP:0031863	Bloodstream infectious agent	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0031863	HP:0031863	Bloodstream infectious agent	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0031863	HP:0031863	Bloodstream infectious agent	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0031863	HP:0031863	Bloodstream infectious agent	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0031863	HP:0031863	Bloodstream infectious agent	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0031863	HP:0031863	Bloodstream infectious agent	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0031863	HP:0031863	Bloodstream infectious agent	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0031863	HP:0031863	Bloodstream infectious agent	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0031863	HP:0031863	Bloodstream infectious agent	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0031863	HP:0031863	Bloodstream infectious agent	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0031863	HP:0031863	Bloodstream infectious agent	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0031863	HP:0031863	Bloodstream infectious agent	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0031863	HP:0031863	Bloodstream infectious agent	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0031863	HP:0020071	Viremia	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0031863	HP:0020071	Viremia	1	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031863	HP:0020071	Viremia	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0031863	HP:0031864	Bacteremia	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040284 - Very rare	79
HP:0031863	HP:0020071	Viremia	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0031863	HP:0020071	Viremia	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0031863	HP:0020071	Viremia	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0031863	HP:0020071	Viremia	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0031863	HP:0020071	Viremia	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0031863	HP:0020071	Viremia	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0031863	HP:0020071	Viremia	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0031863	HP:0020071	Viremia	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0031863	HP:0020071	Viremia	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0031863	HP:0020071	Viremia	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0031863	HP:0020071	Viremia	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0031863	HP:0020071	Viremia	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0031863	HP:0032248	Persistent viremia	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0031863	HP:0032248	Persistent viremia	2	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0031863	HP:0032248	Persistent viremia	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0031863	HP:0032248	Persistent viremia	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0031863	HP:0032248	Persistent viremia	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0031863	HP:0032248	Persistent viremia	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0031863	HP:0032248	Persistent viremia	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0031863	HP:0032248	Persistent viremia	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0031863	HP:0032248	Persistent viremia	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0031863	HP:0032248	Persistent viremia	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0031863	HP:0032248	Persistent viremia	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0031863	HP:0032248	Persistent viremia	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0031863	HP:0032248	Persistent viremia	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0031863	HP:0032248	Persistent viremia	2	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0031863	HP:0032248	Persistent viremia	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0031863	HP:0020072	Persistent EBV viremia	3	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0031863	HP:0020072	Persistent EBV viremia	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0031863	HP:0020072	Persistent EBV viremia	3	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0031863	HP:0032247	Persistent CMV viremia	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0031863	HP:0020072	Persistent EBV viremia	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0031863	HP:0020072	Persistent EBV viremia	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0031863	HP:0032247	Persistent CMV viremia	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0031863	HP:0032247	Persistent CMV viremia	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0031863	HP:0020072	Persistent EBV viremia	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0031863	HP:0020072	Persistent EBV viremia	3	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0031863	HP:0032247	Persistent CMV viremia	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0031863	HP:0020072	Persistent EBV viremia	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0031863	HP:0020072	Persistent EBV viremia	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0031863	HP:0032247	Persistent CMV viremia	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0031863	HP:0020072	Persistent EBV viremia	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0031863	HP:0020072	Persistent EBV viremia	3	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0031863	HP:0032247	Persistent CMV viremia	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78