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:0031035	HP:0031035	Chronic infection	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040284 - Very rare	67
HP:0031035	HP:0031035	Chronic infection	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0031035	HP:0031035	Chronic infection	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0031035	HP:0031035	Chronic infection	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	102
HP:0031035	HP:0031035	Chronic infection	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031035	HP:0031035	Chronic infection	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0031035	HP:0031035	Chronic infection	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0031035	HP:0031035	Chronic infection	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0031035	HP:0031035	Chronic infection	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:0031035	HP:0031035	Chronic infection	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031035	HP:0031035	Chronic infection	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031035	HP:0031035	Chronic infection	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0031035	HP:0031035	Chronic infection	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	2
HP:0031035	HP:0031035	Chronic infection	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0031035	HP:0031035	Chronic infection	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0031035	HP:0031035	Chronic infection	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0031035	HP:0031035	Chronic infection	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040283 - Occasional
HP:0031035	HP:0031035	Chronic infection	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0031035	HP:0031035	Chronic infection	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0031035	HP:0031035	Chronic infection	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0031035	HP:0031035	Chronic infection	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0031035	HP:0031035	Chronic infection	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	82
HP:0031035	HP:0031035	Chronic infection	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3
HP:0031035	HP:0031035	Chronic infection	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0031035	HP:0032259	Chronic tinea infection	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0031035	HP:0032204	Chronic active Epstein-Barr virus infection	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17