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:0004429	HP:0004429	Recurrent viral infections	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0004429	HP:0004429	Recurrent viral infections	0	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004429	HP:0004429	Recurrent viral infections	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0004429	HP:0004429	Recurrent viral infections	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004429	HP:0004429	Recurrent viral infections	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia		109
HP:0004429	HP:0004429	Recurrent viral infections	0	CD8A CL E G H	925	1706	OMIM:608957	Cd8 deficiency, familial	.	4
HP:0004429	HP:0004429	Recurrent viral infections	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0004429	HP:0004429	Recurrent viral infections	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0004429	HP:0004429	Recurrent viral infections	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040281 - Very frequent	38
HP:0004429	HP:0004429	Recurrent viral infections	0	CTPS1 CL E G H	1503	2519	OMIM:615897	IMMUNODEFICIENCY 24; IMD24		2
HP:0004429	HP:0004429	Recurrent viral infections	0	CYBB CL E G H	1536	2578	OMIM:300645	Atypical mycobacteriosis, familial, X-linked 2		111
HP:0004429	HP:0004429	Recurrent viral infections	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0004429	HP:0004429	Recurrent viral infections	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0004429	HP:0004429	Recurrent viral infections	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004429	HP:0004429	Recurrent viral infections	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0004429	HP:0004429	Recurrent viral infections	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0004429	HP:0004429	Recurrent viral infections	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0004429	HP:0004429	Recurrent viral infections	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0004429	HP:0004429	Recurrent viral infections	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040281 - Very frequent	79
HP:0004429	HP:0004429	Recurrent viral infections	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0004429	HP:0004429	Recurrent viral infections	0	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0004429	HP:0004429	Recurrent viral infections	0	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21	HP:0040284 - Very rare	8
HP:0004429	HP:0004429	Recurrent viral infections	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0004429	HP:0004429	Recurrent viral infections	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040281 - Very frequent	56
HP:0004429	HP:0004429	Recurrent viral infections	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0004429	HP:0004429	Recurrent viral infections	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0004429	HP:0004429	Recurrent viral infections	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0004429	HP:0004429	Recurrent viral infections	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0004429	HP:0004429	Recurrent viral infections	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040282 - Frequent	94
HP:0004429	HP:0004429	Recurrent viral infections	0	IRF9 CL E G H	10379	6131	OMIM:618648	IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0004429	HP:0004429	Recurrent viral infections	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0004429	HP:0004429	Recurrent viral infections	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0004429	HP:0004429	Recurrent viral infections	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0004429	HP:0004429	Recurrent viral infections	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:0004429	HP:0004429	Recurrent viral infections	0	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12	.	6
HP:0004429	HP:0004429	Recurrent viral infections	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0004429	HP:0004429	Recurrent viral infections	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0004429	HP:0004429	Recurrent viral infections	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0004429	HP:0004429	Recurrent viral infections	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040283 - Occasional	20
HP:0004429	HP:0004429	Recurrent viral infections	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0004429	HP:0004429	Recurrent viral infections	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0004429	HP:0004429	Recurrent viral infections	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0004429	HP:0004429	Recurrent viral infections	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0004429	HP:0004429	Recurrent viral infections	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0004429	HP:0004429	Recurrent viral infections	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	127
HP:0004429	HP:0004429	Recurrent viral infections	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0004429	HP:0004429	Recurrent viral infections	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040281 - Very frequent	50
HP:0004429	HP:0004429	Recurrent viral infections	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0004429	HP:0004429	Recurrent viral infections	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0004429	HP:0004429	Recurrent viral infections	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0004429	HP:0004429	Recurrent viral infections	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0004429	HP:0004429	Recurrent viral infections	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0004429	HP:0004429	Recurrent viral infections	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0004429	HP:0004429	Recurrent viral infections	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0004429	HP:0004429	Recurrent viral infections	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0004429	HP:0004429	Recurrent viral infections	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0004429	HP:0004429	Recurrent viral infections	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0004429	HP:0004429	Recurrent viral infections	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0004429	HP:0004429	Recurrent viral infections	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040281 - Very frequent
HP:0004429	HP:0004429	Recurrent viral infections	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0004429	HP:0004429	Recurrent viral infections	0	STAT1 CL E G H	6772	11362	OMIM:613796	Mycobacterial and viral infections, susceptibility to, autosomal recessive	.	89
HP:0004429	HP:0004429	Recurrent viral infections	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0004429	HP:0004429	Recurrent viral infections	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040281 - Very frequent	82
HP:0004429	HP:0004429	Recurrent viral infections	0	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0004429	HP:0004429	Recurrent viral infections	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040281 - Very frequent	46
HP:0004429	HP:0011371	Recurrent viral skin infections	1	CL E G H
HP:0004429	HP:0005396	Susceptibility to coronavirus 229e	1	CL E G H
HP:0004429	HP:0005428	Severe recurrent varicella	1	ARHGEF1 CL E G H	9138	681	OMIM:618459	Immunodeficiency 62
HP:0004429	HP:0002743	Recurrent enteroviral infections	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0004429	HP:0002743	Recurrent enteroviral infections	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109
HP:0004429	HP:0005428	Severe recurrent varicella	1	CYBB CL E G H	1536	2578	OMIM:300645	Atypical mycobacteriosis, familial, X-linked 2	.	111
HP:0004429	HP:0033166	Recurrent viral upper respiratory tract infections	1	FCGR3A CL E G H	2214	3619	OMIM:615707	Immunodeficiency 20		4
HP:0004429	HP:0033214	Recurrent viral pneumonia	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0004429	HP:0033166	Recurrent viral upper respiratory tract infections	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0004429	HP:0002743	Recurrent enteroviral infections	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0004429	HP:0005428	Severe recurrent varicella	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0004429	HP:0033166	Recurrent viral upper respiratory tract infections	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0004429	HP:0002743	Recurrent enteroviral infections	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0004429	HP:0002743	Recurrent enteroviral infections	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0004429	HP:0005360	Susceptibility to chickenpox	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0004429	HP:0002743	Recurrent enteroviral infections	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0004429	HP:0003729	Enteroviral dermatomyositis syndrome	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0004429	HP:0003729	Enteroviral dermatomyositis syndrome	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109