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:0000155	HP:0000155	Oral ulcer	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0000155	HP:0000155	Oral ulcer	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0000155	HP:0000155	Oral ulcer	0	CAT CL E G H	847	1516	OMIM:614097	Acatalasemia	.	5
HP:0000155	HP:0000155	Oral ulcer	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040282 - Frequent	5
HP:0000155	HP:0000155	Oral ulcer	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000155	HP:0000155	Oral ulcer	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0000155	HP:0000155	Oral ulcer	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0000155	HP:0000155	Oral ulcer	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0000155	HP:0000155	Oral ulcer	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0000155	HP:0000155	Oral ulcer	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0000155	HP:0000155	Oral ulcer	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	5
HP:0000155	HP:0000155	Oral ulcer	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	1
HP:0000155	HP:0000155	Oral ulcer	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0000155	HP:0000155	Oral ulcer	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0000155	HP:0000155	Oral ulcer	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0000155	HP:0000155	Oral ulcer	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0000155	HP:0000155	Oral ulcer	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	59
HP:0000155	HP:0000155	Oral ulcer	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0000155	HP:0000155	Oral ulcer	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0000155	HP:0000155	Oral ulcer	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	4
HP:0000155	HP:0000155	Oral ulcer	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	60
HP:0000155	HP:0000155	Oral ulcer	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0000155	HP:0000155	Oral ulcer	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0000155	HP:0000155	Oral ulcer	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000155	HP:0000155	Oral ulcer	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000155	HP:0000155	Oral ulcer	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0000155	HP:0000155	Oral ulcer	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0000155	HP:0000155	Oral ulcer	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0000155	HP:0000155	Oral ulcer	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0000155	HP:0000155	Oral ulcer	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000155	HP:0000155	Oral ulcer	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	281
HP:0000155	HP:0000155	Oral ulcer	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0000155	HP:0000155	Oral ulcer	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000155	HP:0000155	Oral ulcer	0	RELA CL E G H	5970	9955	OMIM:618287	MUCOCUTANEOUS ULCERATION, CHRONIC; CMCU		1
HP:0000155	HP:0000155	Oral ulcer	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0000155	HP:0000155	Oral ulcer	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare	26
HP:0000155	HP:0000155	Oral ulcer	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0000155	HP:0000155	Oral ulcer	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0000155	HP:0000155	Oral ulcer	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0000155	HP:0000155	Oral ulcer	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0000155	HP:0000155	Oral ulcer	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0000155	HP:0000155	Oral ulcer	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0000155	HP:0000155	Oral ulcer	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0000155	HP:0000155	Oral ulcer	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0000155	HP:0000155	Oral ulcer	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0000155	HP:0000155	Oral ulcer	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0000155	HP:0000155	Oral ulcer	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	3
HP:0000155	HP:0000155	Oral ulcer	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0000155	HP:0000155	Oral ulcer	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0000155	HP:0000155	Oral ulcer	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent