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:0002206	HP:0002206	Pulmonary fibrosis	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	147
HP:0002206	HP:0002206	Pulmonary fibrosis	0	ABCA3 CL E G H	21	33	OMIM:610921	Surfactant metabolism dysfunction, pulmonary, 3		147
HP:0002206	HP:0002206	Pulmonary fibrosis	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2	.	83
HP:0002206	HP:0002206	Pulmonary fibrosis	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002206	HP:0002206	Pulmonary fibrosis	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002206	HP:0002206	Pulmonary fibrosis	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	16
HP:0002206	HP:0002206	Pulmonary fibrosis	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare
HP:0002206	HP:0002206	Pulmonary fibrosis	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0002206	HP:0002206	Pulmonary fibrosis	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0002206	HP:0002206	Pulmonary fibrosis	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002206	HP:0002206	Pulmonary fibrosis	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0002206	HP:0002206	Pulmonary fibrosis	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002206	HP:0002206	Pulmonary fibrosis	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	747
HP:0002206	HP:0002206	Pulmonary fibrosis	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare	2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.	6
HP:0002206	HP:0002206	Pulmonary fibrosis	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0002206	HP:0002206	Pulmonary fibrosis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0002206	HP:0002206	Pulmonary fibrosis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0002206	HP:0002206	Pulmonary fibrosis	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	50
HP:0002206	HP:0002206	Pulmonary fibrosis	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare	86
HP:0002206	HP:0002206	Pulmonary fibrosis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional	4
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040283 - Occasional	1
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0002206	HP:0002206	Pulmonary fibrosis	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0002206	HP:0002206	Pulmonary fibrosis	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0002206	HP:0002206	Pulmonary fibrosis	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0002206	HP:0002206	Pulmonary fibrosis	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	4
HP:0002206	HP:0002206	Pulmonary fibrosis	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0002206	HP:0002206	Pulmonary fibrosis	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002206	HP:0002206	Pulmonary fibrosis	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	25
HP:0002206	HP:0002206	Pulmonary fibrosis	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	133
HP:0002206	HP:0002206	Pulmonary fibrosis	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5		39
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare	39
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	27
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.	17
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	38
HP:0002206	HP:0002206	Pulmonary fibrosis	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	5
HP:0002206	HP:0002206	Pulmonary fibrosis	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	26
HP:0002206	HP:0002206	Pulmonary fibrosis	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0002206	HP:0002206	Pulmonary fibrosis	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040284 - Very rare	759
HP:0002206	HP:0002206	Pulmonary fibrosis	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare
HP:0002206	HP:0002206	Pulmonary fibrosis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0002206	HP:0002206	Pulmonary fibrosis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002206	HP:0002206	Pulmonary fibrosis	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome	HP:0040283 - Occasional	7
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	77
HP:0002206	HP:0002206	Pulmonary fibrosis	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	19
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	10
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	33
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040284 - Very rare	47
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare	7
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0002206	HP:0002206	Pulmonary fibrosis	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare	2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002206	HP:0002206	Pulmonary fibrosis	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	2
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	48
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	48
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	238
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	238
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0002206	HP:0002206	Pulmonary fibrosis	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.	60
HP:0002206	HP:0002206	Pulmonary fibrosis	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002206	HP:0002206	Pulmonary fibrosis	0	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5		1
HP:0002206	HP:0002206	Pulmonary fibrosis	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare
HP:0002206	HP:0550005	Bilateral basilar pulmonary fibrosis	1	CL E G H
HP:0002206	HP:0033539	Bilateral apical pulmonary fibrosis	1	CL E G H