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:0001061	HP:0001061	Acne	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0001061	HP:0001061	Acne	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001061	HP:0001061	Acne	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional	95
HP:0001061	HP:0001061	Acne	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040284 - Very rare	125
HP:0001061	HP:0001061	Acne	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0001061	HP:0001061	Acne	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0001061	HP:0001061	Acne	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	169
HP:0001061	HP:0001061	Acne	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	276
HP:0001061	HP:0001061	Acne	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001061	HP:0001061	Acne	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	636
HP:0001061	HP:0001061	Acne	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0001061	HP:0001061	Acne	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0001061	HP:0001061	Acne	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0001061	HP:0001061	Acne	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent	14
HP:0001061	HP:0001061	Acne	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0001061	HP:0001061	Acne	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001061	HP:0001061	Acne	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.	13
HP:0001061	HP:0001061	Acne	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0001061	HP:0001061	Acne	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent	59
HP:0001061	HP:0001061	Acne	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0001061	HP:0001061	Acne	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0001061	HP:0001061	Acne	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0001061	HP:0001061	Acne	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0001061	HP:0001061	Acne	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0001061	HP:0001061	Acne	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional	5
HP:0001061	HP:0001061	Acne	0	H6PD CL E G H	9563	4795	OMIM:604931	Cortisone reductase deficiency 1	.	8
HP:0001061	HP:0001061	Acne	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0001061	HP:0001061	Acne	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent	4
HP:0001061	HP:0001061	Acne	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent	55
HP:0001061	HP:0001061	Acne	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0001061	HP:0001061	Acne	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent	60
HP:0001061	HP:0001061	Acne	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001061	HP:0001061	Acne	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0001061	HP:0001061	Acne	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001061	HP:0001061	Acne	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0001061	HP:0001061	Acne	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type		1
HP:0001061	HP:0001061	Acne	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease		173
HP:0001061	HP:0001061	Acne	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040282 - Frequent	67
HP:0001061	HP:0001061	Acne	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent	186
HP:0001061	HP:0001061	Acne	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent	281
HP:0001061	HP:0001061	Acne	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0001061	HP:0001061	Acne	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0001061	HP:0001061	Acne	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0001061	HP:0001061	Acne	0	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial		5
HP:0001061	HP:0001061	Acne	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	79
HP:0001061	HP:0001061	Acne	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040282 - Frequent	79
HP:0001061	HP:0001061	Acne	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.	20
HP:0001061	HP:0001061	Acne	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0001061	HP:0001061	Acne	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0001061	HP:0001061	Acne	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease		2
HP:0001061	HP:0001061	Acne	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease		6
HP:0001061	HP:0001061	Acne	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0001061	HP:0001061	Acne	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0001061	HP:0001061	Acne	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0001061	HP:0001061	Acne	0	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0001061	HP:0001061	Acne	0	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease		2
HP:0001061	HP:0001061	Acne	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease		2
HP:0001061	HP:0001061	Acne	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040281 - Very frequent	96
HP:0001061	HP:0001061	Acne	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0001061	HP:0001061	Acne	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome		8
HP:0001061	HP:0001061	Acne	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent	134
HP:0001061	HP:0001061	Acne	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0001061	HP:0001061	Acne	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0001061	HP:0001061	Acne	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0001061	HP:0001061	Acne	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent	13
HP:0001061	HP:0001061	Acne	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0001061	HP:0001061	Acne	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0001061	HP:0001061	Acne	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0001061	HP:0001061	Acne	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent	3
HP:0001061	HP:0001061	Acne	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	911
HP:0001061	HP:0001061	Acne	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0001061	HP:0001061	Acne	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	1
HP:0001061	HP:0001061	Acne	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040282 - Frequent	7
HP:0001061	HP:0001061	Acne	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0001061	HP:0001061	Acne	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040282 - Frequent	4
HP:0001061	HP:0001061	Acne	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81
HP:0001061	HP:0001061	Acne	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0001061	HP:0040154	Acne inversa	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0001061	HP:0040154	Acne inversa	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0001061	HP:0040154	Acne inversa	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0001061	HP:0040154	Acne inversa	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0001061	HP:0040154	Acne inversa	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.	1
HP:0001061	HP:0040154	Acne inversa	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0001061	HP:0033188	Cystic acne	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0001061	HP:0040154	Acne inversa	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0001061	HP:0040154	Acne inversa	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0001061	HP:0040154	Acne inversa	1	NCSTN CL E G H	23385	17091	OMIM:142690	Acne inversa, familial	.	5
HP:0001061	HP:0040154	Acne inversa	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0001061	HP:0040154	Acne inversa	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0001061	HP:0040154	Acne inversa	1	PSEN1 CL E G H	5663	9508	OMIM:613737	Acne inversa, familial, 3		241
HP:0001061	HP:0040154	Acne inversa	1	PSENEN CL E G H	55851	30100	OMIM:613736	Acne inversa, familial, 2, with or without dowling-degos disease	.	2
HP:0001061	HP:0040154	Acne inversa	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0001061	HP:0033188	Cystic acne	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0001061	HP:0040137	Comedonal acne	1	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.	8