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:0025427	HP:0025427	Abnormal bronchus physiology	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to		5
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to		4
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to		2
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to		3
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to		2
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to		1
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to		5
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance		1
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to		1
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance		1
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to		7
HP:0025427	HP:0025427	Abnormal bronchus physiology	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0025427	HP:0025428	Bronchospasm	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type	.	34
HP:0025427	HP:4000007	Bronchoconstriction	1	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to	.	5
HP:0025427	HP:4000007	Bronchoconstriction	1	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to	.	4
HP:0025427	HP:0025428	Bronchospasm	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0025427	HP:0025428	Bronchospasm	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025427	HP:4000007	Bronchoconstriction	1	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to	.	2
HP:0025427	HP:0025428	Bronchospasm	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0025427	HP:0025428	Bronchospasm	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0025427	HP:0025428	Bronchospasm	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0025427	HP:4000007	Bronchoconstriction	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0025427	HP:0025428	Bronchospasm	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0025427	HP:0025428	Bronchospasm	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025427	HP:4000007	Bronchoconstriction	1	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to	.
HP:0025427	HP:4000007	Bronchoconstriction	1	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to	.	3
HP:0025427	HP:4000007	Bronchoconstriction	1	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to	.	2
HP:0025427	HP:0025428	Bronchospasm	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0025427	HP:4000007	Bronchoconstriction	1	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to	.	1
HP:0025427	HP:4000007	Bronchoconstriction	1	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to	.	5
HP:0025427	HP:4000007	Bronchoconstriction	1	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0025427	HP:0025428	Bronchospasm	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0025427	HP:4000007	Bronchoconstriction	1	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to	.	1
HP:0025427	HP:0025428	Bronchospasm	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0025427	HP:0025428	Bronchospasm	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0025427	HP:4000007	Bronchoconstriction	1	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0025427	HP:4000007	Bronchoconstriction	1	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to	.	7
HP:0025427	HP:0025428	Bronchospasm	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1