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:0002113	HP:0002113	Pulmonary infiltrates	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040282 - Frequent	39
HP:0002113	HP:0002113	Pulmonary infiltrates	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0002113	HP:0002113	Pulmonary infiltrates	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002113	HP:0002113	Pulmonary infiltrates	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	18
HP:0002113	HP:0002113	Pulmonary infiltrates	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0002113	HP:0002113	Pulmonary infiltrates	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent
HP:0002113	HP:0002113	Pulmonary infiltrates	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002113	HP:0002113	Pulmonary infiltrates	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002113	HP:0002113	Pulmonary infiltrates	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0002113	HP:0002113	Pulmonary infiltrates	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	11
HP:0002113	HP:0002113	Pulmonary infiltrates	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0002113	HP:0002113	Pulmonary infiltrates	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002113	HP:0002113	Pulmonary infiltrates	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent
HP:0002113	HP:0002113	Pulmonary infiltrates	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0002113	HP:0002113	Pulmonary infiltrates	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002113	HP:0002113	Pulmonary infiltrates	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002113	HP:0002113	Pulmonary infiltrates	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0002113	HP:0002113	Pulmonary infiltrates	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002113	HP:0002113	Pulmonary infiltrates	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0002113	HP:0002113	Pulmonary infiltrates	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	184
HP:0002113	HP:0002113	Pulmonary infiltrates	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	HP:0040283 - Occasional
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	2
HP:0002113	HP:0002113	Pulmonary infiltrates	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	7
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002113	HP:0002113	Pulmonary infiltrates	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040281 - Very frequent	4
HP:0002113	HP:0002113	Pulmonary infiltrates	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0002113	HP:0002113	Pulmonary infiltrates	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002113	HP:0002113	Pulmonary infiltrates	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional	186
HP:0002113	HP:0002113	Pulmonary infiltrates	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040281 - Very frequent	6
HP:0002113	HP:0002113	Pulmonary infiltrates	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002113	HP:0002113	Pulmonary infiltrates	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002113	HP:0002113	Pulmonary infiltrates	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002113	HP:0002113	Pulmonary infiltrates	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0002113	HP:0002113	Pulmonary infiltrates	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002113	HP:0002113	Pulmonary infiltrates	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0002113	HP:0002113	Pulmonary infiltrates	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002113	HP:0002113	Pulmonary infiltrates	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0002113	HP:0002113	Pulmonary infiltrates	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional	67
HP:0002113	HP:0002113	Pulmonary infiltrates	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0002113	HP:0002113	Pulmonary infiltrates	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040282 - Frequent	51
HP:0002113	HP:0002113	Pulmonary infiltrates	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0002113	HP:0002113	Pulmonary infiltrates	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0002113	HP:0002113	Pulmonary infiltrates	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002113	HP:0002113	Pulmonary infiltrates	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0002113	HP:0002113	Pulmonary infiltrates	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002113	HP:0002113	Pulmonary infiltrates	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002113	HP:0002113	Pulmonary infiltrates	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent	1090
HP:0002113	HP:0002113	Pulmonary infiltrates	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040281 - Very frequent	2738
HP:0002113	HP:0002113	Pulmonary infiltrates	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0002113	HP:0002113	Pulmonary infiltrates	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002113	HP:0005828	Transient pulmonary infiltrates	1	CL E G H
HP:0002113	HP:0002207	Diffuse reticular or finely nodular infiltrations	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0002113	HP:0002207	Diffuse reticular or finely nodular infiltrations	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0002113	HP:0002207	Diffuse reticular or finely nodular infiltrations	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164