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:0002107	HP:0002107	Pneumothorax	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0002107	HP:0002107	Pneumothorax	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002107	HP:0002107	Pneumothorax	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0002107	HP:0002107	Pneumothorax	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0002107	HP:0002107	Pneumothorax	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0002107	HP:0002107	Pneumothorax	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0002107	HP:0002107	Pneumothorax	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0002107	HP:0002107	Pneumothorax	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002107	HP:0002107	Pneumothorax	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002107	HP:0002107	Pneumothorax	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002107	HP:0002107	Pneumothorax	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002107	HP:0002107	Pneumothorax	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002107	HP:0002107	Pneumothorax	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0002107	HP:0002107	Pneumothorax	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0002107	HP:0002107	Pneumothorax	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002107	HP:0002107	Pneumothorax	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040284 - Very rare	38
HP:0002107	HP:0002107	Pneumothorax	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002107	HP:0002107	Pneumothorax	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0002107	HP:0002107	Pneumothorax	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002107	HP:0002107	Pneumothorax	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0002107	HP:0002107	Pneumothorax	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0002107	HP:0002107	Pneumothorax	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0002107	HP:0002107	Pneumothorax	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002107	HP:0002107	Pneumothorax	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0002107	HP:0002107	Pneumothorax	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002107	HP:0002107	Pneumothorax	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0002107	HP:0002107	Pneumothorax	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0002107	HP:0002107	Pneumothorax	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0002107	HP:0002107	Pneumothorax	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002107	HP:0002107	Pneumothorax	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0002107	HP:0002107	Pneumothorax	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040283 - Occasional	332
HP:0002107	HP:0002107	Pneumothorax	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0002107	HP:0002107	Pneumothorax	0	FLCN CL E G H	201163	27310	ORPHA:2903	Familial spontaneous pneumothorax	HP:0040281 - Very frequent	332
HP:0002107	HP:0002107	Pneumothorax	0	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous		332
HP:0002107	HP:0002107	Pneumothorax	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002107	HP:0002107	Pneumothorax	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002107	HP:0002107	Pneumothorax	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002107	HP:0002107	Pneumothorax	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002107	HP:0002107	Pneumothorax	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002107	HP:0002107	Pneumothorax	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0002107	HP:0002107	Pneumothorax	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002107	HP:0002107	Pneumothorax	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002107	HP:0002107	Pneumothorax	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002107	HP:0002107	Pneumothorax	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002107	HP:0002107	Pneumothorax	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	116
HP:0002107	HP:0002107	Pneumothorax	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	167
HP:0002107	HP:0002107	Pneumothorax	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	135
HP:0002107	HP:0002107	Pneumothorax	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002107	HP:0002107	Pneumothorax	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0002107	HP:0002107	Pneumothorax	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002107	HP:0002107	Pneumothorax	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002107	HP:0002107	Pneumothorax	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002107	HP:0002107	Pneumothorax	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002107	HP:0002107	Pneumothorax	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002107	HP:0002107	Pneumothorax	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0002107	HP:0002107	Pneumothorax	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002107	HP:0002107	Pneumothorax	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002107	HP:0002107	Pneumothorax	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0002107	HP:0002107	Pneumothorax	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002107	HP:0002107	Pneumothorax	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002107	HP:0002107	Pneumothorax	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002107	HP:0002107	Pneumothorax	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002107	HP:0002107	Pneumothorax	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7
HP:0002107	HP:0002107	Pneumothorax	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002107	HP:0002107	Pneumothorax	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002107	HP:0002107	Pneumothorax	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002107	HP:0002107	Pneumothorax	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002107	HP:0002107	Pneumothorax	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0002107	HP:0002107	Pneumothorax	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002107	HP:0002107	Pneumothorax	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002107	HP:0002107	Pneumothorax	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002107	HP:0002107	Pneumothorax	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002107	HP:0002107	Pneumothorax	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0002107	HP:0002107	Pneumothorax	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002107	HP:0002107	Pneumothorax	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002107	HP:0002107	Pneumothorax	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002107	HP:0002107	Pneumothorax	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002107	HP:0002107	Pneumothorax	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0002107	HP:0002107	Pneumothorax	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0002107	HP:0002107	Pneumothorax	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0002107	HP:0002107	Pneumothorax	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0002107	HP:0002107	Pneumothorax	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0002107	HP:0005939	Multiple bilateral pneumothoraces	1	CL E G H
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0002107	HP:0006522	Repeated pneumothoraces	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002107	HP:0006522	Repeated pneumothoraces	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	4
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous	.	332
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare	563
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002107	HP:0002108	Spontaneous pneumothorax	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0002107	HP:0004876	Spontaneous neonatal pneumothorax	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0002107	HP:0004876	Spontaneous neonatal pneumothorax	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040283 - Occasional	51