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:0002202	HP:0002202	Pleural effusion	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome		1
HP:0002202	HP:0002202	Pleural effusion	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0002202	HP:0002202	Pleural effusion	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040281 - Very frequent	184
HP:0002202	HP:0002202	Pleural effusion	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0002202	HP:0002202	Pleural effusion	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0002202	HP:0002202	Pleural effusion	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	1
HP:0002202	HP:0002202	Pleural effusion	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002202	HP:0002202	Pleural effusion	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8		3
HP:0002202	HP:0002202	Pleural effusion	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002202	HP:0002202	Pleural effusion	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0002202	HP:0002202	Pleural effusion	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0002202	HP:0002202	Pleural effusion	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome		147
HP:0002202	HP:0002202	Pleural effusion	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040284 - Very rare	1
HP:0002202	HP:0002202	Pleural effusion	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002202	HP:0002202	Pleural effusion	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0002202	HP:0002202	Pleural effusion	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0002202	HP:0002202	Pleural effusion	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0002202	HP:0002202	Pleural effusion	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0002202	HP:0002202	Pleural effusion	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0002202	HP:0002202	Pleural effusion	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0002202	HP:0002202	Pleural effusion	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002202	HP:0002202	Pleural effusion	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002202	HP:0002202	Pleural effusion	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0002202	HP:0002202	Pleural effusion	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040283 - Occasional	40
HP:0002202	HP:0002202	Pleural effusion	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0002202	HP:0002202	Pleural effusion	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040283 - Occasional	3
HP:0002202	HP:0002202	Pleural effusion	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002202	HP:0002202	Pleural effusion	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome		114
HP:0002202	HP:0002202	Pleural effusion	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0002202	HP:0002202	Pleural effusion	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002202	HP:0002202	Pleural effusion	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040282 - Frequent	50
HP:0002202	HP:0002202	Pleural effusion	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0002202	HP:0002202	Pleural effusion	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0002202	HP:0002202	Pleural effusion	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0002202	HP:0002202	Pleural effusion	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0002202	HP:0002202	Pleural effusion	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002202	HP:0002202	Pleural effusion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	2
HP:0002202	HP:0002202	Pleural effusion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040282 - Frequent	2
HP:0002202	HP:0002202	Pleural effusion	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002202	HP:0002202	Pleural effusion	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0002202	HP:0002202	Pleural effusion	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0002202	HP:0002202	Pleural effusion	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002202	HP:0002202	Pleural effusion	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional	7
HP:0002202	HP:0002202	Pleural effusion	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002202	HP:0002202	Pleural effusion	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002202	HP:0002202	Pleural effusion	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002202	HP:0002202	Pleural effusion	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0002202	HP:0002202	Pleural effusion	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0002202	HP:0002202	Pleural effusion	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0002202	HP:0002202	Pleural effusion	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0002202	HP:0002202	Pleural effusion	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002202	HP:0002202	Pleural effusion	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0002202	HP:0002202	Pleural effusion	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0002202	HP:0002202	Pleural effusion	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0002202	HP:0002202	Pleural effusion	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002202	HP:0002202	Pleural effusion	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0002202	HP:0002202	Pleural effusion	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0002202	HP:0002202	Pleural effusion	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002202	HP:0002202	Pleural effusion	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0002202	HP:0002202	Pleural effusion	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0002202	HP:0002202	Pleural effusion	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0002202	HP:0002202	Pleural effusion	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0002202	HP:0002202	Pleural effusion	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0002202	HP:0002202	Pleural effusion	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0002202	HP:0002202	Pleural effusion	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0002202	HP:0002202	Pleural effusion	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0002202	HP:0002202	Pleural effusion	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002202	HP:0002202	Pleural effusion	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional	7
HP:0002202	HP:0002202	Pleural effusion	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34
HP:0002202	HP:0002202	Pleural effusion	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0002202	HP:0002202	Pleural effusion	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002202	HP:0002202	Pleural effusion	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0002202	HP:0002202	Pleural effusion	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002202	HP:0002202	Pleural effusion	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0002202	HP:0002202	Pleural effusion	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002202	HP:0002202	Pleural effusion	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis		1090
HP:0002202	HP:0002202	Pleural effusion	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis		2738
HP:0002202	HP:0002202	Pleural effusion	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002202	HP:0002202	Pleural effusion	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0002202	HP:0002202	Pleural effusion	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002202	HP:0002202	Pleural effusion	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002202	HP:0011921	Exudative pleural effusion	1	CL E G H
HP:0002202	HP:0011920	Transudative pleural effusion	1	CL E G H
HP:0002202	HP:0011919	Pleural empyema	1	CL E G H
HP:0002202	HP:0010310	Chylothorax	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	1
HP:0002202	HP:0010310	Chylothorax	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0002202	HP:0010310	Chylothorax	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0002202	HP:0010310	Chylothorax	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0002202	HP:0010310	Chylothorax	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional	317
HP:0002202	HP:0010310	Chylothorax	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	147
HP:0002202	HP:0010310	Chylothorax	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	3
HP:0002202	HP:0010310	Chylothorax	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional	114
HP:0002202	HP:0010310	Chylothorax	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome		20
HP:0002202	HP:0010310	Chylothorax	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0002202	HP:0010310	Chylothorax	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0002202	HP:0010310	Chylothorax	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0002202	HP:0010310	Chylothorax	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0002202	HP:0010310	Chylothorax	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0002202	HP:0010310	Chylothorax	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare	88
HP:0002202	HP:0010310	Chylothorax	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0002202	HP:0010310	Chylothorax	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738