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:0002097	HP:0002097	Emphysema	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0002097	HP:0002097	Emphysema	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	89
HP:0002097	HP:0002097	Emphysema	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0002097	HP:0002097	Emphysema	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0002097	HP:0002097	Emphysema	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002097	HP:0002097	Emphysema	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0002097	HP:0002097	Emphysema	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	38
HP:0002097	HP:0002097	Emphysema	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002097	HP:0002097	Emphysema	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0002097	HP:0002097	Emphysema	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	1371
HP:0002097	HP:0002097	Emphysema	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002097	HP:0002097	Emphysema	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0002097	HP:0002097	Emphysema	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0002097	HP:0002097	Emphysema	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	7
HP:0002097	HP:0002097	Emphysema	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	45
HP:0002097	HP:0002097	Emphysema	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0002097	HP:0002097	Emphysema	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	172
HP:0002097	HP:0002097	Emphysema	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1	.	172
HP:0002097	HP:0002097	Emphysema	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	209
HP:0002097	HP:0002097	Emphysema	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	137
HP:0002097	HP:0002097	Emphysema	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications	.
HP:0002097	HP:0002097	Emphysema	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa	HP:0040283 - Occasional	63
HP:0002097	HP:0002097	Emphysema	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent	63
HP:0002097	HP:0002097	Emphysema	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0002097	HP:0002097	Emphysema	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	HP:0040283 - Occasional	1361
HP:0002097	HP:0002097	Emphysema	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040280 - Obligate	1361
HP:0002097	HP:0002097	Emphysema	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040281 - Very frequent	332
HP:0002097	HP:0002097	Emphysema	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0002097	HP:0002097	Emphysema	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	1
HP:0002097	HP:0002097	Emphysema	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0002097	HP:0002097	Emphysema	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0002097	HP:0002097	Emphysema	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002097	HP:0002097	Emphysema	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0002097	HP:0002097	Emphysema	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002097	HP:0002097	Emphysema	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	4
HP:0002097	HP:0002097	Emphysema	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002097	HP:0002097	Emphysema	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040281 - Very frequent
HP:0002097	HP:0002097	Emphysema	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0002097	HP:0002097	Emphysema	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0002097	HP:0002097	Emphysema	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002097	HP:0002097	Emphysema	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0002097	HP:0002097	Emphysema	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	7
HP:0002097	HP:0002097	Emphysema	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	11
HP:0002097	HP:0002097	Emphysema	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0002097	HP:0002097	Emphysema	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0002097	HP:0002097	Emphysema	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002097	HP:0002097	Emphysema	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0002097	HP:0002097	Emphysema	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040283 - Occasional	2
HP:0002097	HP:0002097	Emphysema	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0002097	HP:0002097	Emphysema	0	RHOH CL E G H	399	686	OMIM:618307	Epidermodysplasia verruciformis, susceptibility to, 4	.
HP:0002097	HP:0002097	Emphysema	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	67
HP:0002097	HP:0002097	Emphysema	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	61
HP:0002097	HP:0002097	Emphysema	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	57
HP:0002097	HP:0002097	Emphysema	0	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040281 - Very frequent	131
HP:0002097	HP:0002097	Emphysema	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0002097	HP:0002097	Emphysema	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0002097	HP:0002097	Emphysema	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002097	HP:0002097	Emphysema	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040282 - Frequent	100
HP:0002097	HP:0002097	Emphysema	0	TAP1 CL E G H	6890	43	OMIM:604571	Bare lymphocyte syndrome, type I	.	5
HP:0002097	HP:0002097	Emphysema	0	TAP2 CL E G H	6891	44	OMIM:604571	Bare lymphocyte syndrome, type I	.	17
HP:0002097	HP:0002097	Emphysema	0	TAPBP CL E G H	6892	11566	OMIM:604571	Bare lymphocyte syndrome, type I	.	3
HP:0002097	HP:0002097	Emphysema	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0002097	HP:0002097	Emphysema	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0002097	HP:0002097	Emphysema	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	12
HP:0002097	HP:0002097	Emphysema	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002097	HP:0002097	Emphysema	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0002097	HP:0002097	Emphysema	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0002097	HP:0032966	Centrilobular emphysema	1	CL E G H
HP:0002097	HP:0033649	Paraseptal emphysema	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0002097	HP:0032447	Pulmonary bleb	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0002097	HP:0032446	Pulmonary bulla	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0002097	HP:0032446	Pulmonary bulla	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002097	HP:0032447	Pulmonary bleb	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002097	HP:0032447	Pulmonary bleb	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0002097	HP:0032965	Interstitial emphysema	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002097	HP:0032967	Panacinar emphysema	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency		131
HP:0002097	HP:0032447	Pulmonary bleb	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60