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:0005948	HP:0005948	Multiple pulmonary cysts	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis		147
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis		747
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis		133
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis		26
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis		77
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis		19
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis		10
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis		33
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis		2
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis		48
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis		238
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0005948	HP:0005948	Multiple pulmonary cysts	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0005948	HP:0025175	Honeycomb lung	1	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	147
HP:0005948	HP:0025175	Honeycomb lung	1	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0005948	HP:0025175	Honeycomb lung	1	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0005948	HP:0025175	Honeycomb lung	1	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0005948	HP:0025175	Honeycomb lung	1	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	747
HP:0005948	HP:0025175	Honeycomb lung	1	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0005948	HP:0025175	Honeycomb lung	1	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	133
HP:0005948	HP:0025175	Honeycomb lung	1	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	26
HP:0005948	HP:0025175	Honeycomb lung	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0005948	HP:0010959	Congenital pulmonary airway malformation	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0005948	HP:0025175	Honeycomb lung	1	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	77
HP:0005948	HP:0025175	Honeycomb lung	1	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	19
HP:0005948	HP:0025175	Honeycomb lung	1	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	10
HP:0005948	HP:0025175	Honeycomb lung	1	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	33
HP:0005948	HP:0006552	Fibrocystic lung disease	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0005948	HP:0025175	Honeycomb lung	1	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	2
HP:0005948	HP:0025175	Honeycomb lung	1	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	48
HP:0005948	HP:0025175	Honeycomb lung	1	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	238
HP:0005948	HP:0010959	Congenital pulmonary airway malformation	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26
HP:0005948	HP:0010959	Congenital pulmonary airway malformation	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0005948	HP:0025727	Type 3 congenital pulmonary airway malformation	2	CL E G H
HP:0005948	HP:0025726	Type 2 congenital pulmonary airway malformation	2	CL E G H
HP:0005948	HP:0025725	Type 1 congenital pulmonary airway malformation	2	CL E G H