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:0002633	HP:0002633	Vasculitis	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0002633	HP:0002633	Vasculitis	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002633	HP:0002633	Vasculitis	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0002633	HP:0002633	Vasculitis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0002633	HP:0002633	Vasculitis	0	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0002633	HP:0002633	Vasculitis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0002633	HP:0002633	Vasculitis	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0002633	HP:0002633	Vasculitis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	38
HP:0002633	HP:0002633	Vasculitis	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0002633	HP:0002633	Vasculitis	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002633	HP:0002633	Vasculitis	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0002633	HP:0002633	Vasculitis	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0002633	HP:0002633	Vasculitis	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0002633	HP:0002633	Vasculitis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0002633	HP:0002633	Vasculitis	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis		3
HP:0002633	HP:0002633	Vasculitis	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002633	HP:0002633	Vasculitis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0002633	HP:0002633	Vasculitis	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0002633	HP:0002633	Vasculitis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0002633	HP:0002633	Vasculitis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	59
HP:0002633	HP:0002633	Vasculitis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0002633	HP:0002633	Vasculitis	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0002633	HP:0002633	Vasculitis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	4
HP:0002633	HP:0002633	Vasculitis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0002633	HP:0002633	Vasculitis	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0002633	HP:0002633	Vasculitis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0002633	HP:0002633	Vasculitis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0002633	HP:0002633	Vasculitis	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0002633	HP:0002633	Vasculitis	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0002633	HP:0002633	Vasculitis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	60
HP:0002633	HP:0002633	Vasculitis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0002633	HP:0002633	Vasculitis	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0002633	HP:0002633	Vasculitis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0002633	HP:0002633	Vasculitis	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency		46
HP:0002633	HP:0002633	Vasculitis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	1
HP:0002633	HP:0002633	Vasculitis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	4
HP:0002633	HP:0002633	Vasculitis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	281
HP:0002633	HP:0002633	Vasculitis	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0002633	HP:0002633	Vasculitis	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0002633	HP:0002633	Vasculitis	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0002633	HP:0002633	Vasculitis	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002633	HP:0002633	Vasculitis	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040282 - Frequent	150
HP:0002633	HP:0002633	Vasculitis	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002633	HP:0002633	Vasculitis	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	7
HP:0002633	HP:0002633	Vasculitis	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	11
HP:0002633	HP:0002633	Vasculitis	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0002633	HP:0002633	Vasculitis	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040283 - Occasional	217
HP:0002633	HP:0002633	Vasculitis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0002633	HP:0002633	Vasculitis	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0002633	HP:0002633	Vasculitis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0002633	HP:0002633	Vasculitis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002633	HP:0002633	Vasculitis	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0002633	HP:0002633	Vasculitis	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency		52
HP:0002633	HP:0002633	Vasculitis	0	POLR3F CL E G H	10621	15763	OMIM:619872
HP:0002633	HP:0002633	Vasculitis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0002633	HP:0002633	Vasculitis	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0002633	HP:0002633	Vasculitis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0002633	HP:0002633	Vasculitis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0002633	HP:0002633	Vasculitis	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0002633	HP:0002633	Vasculitis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0002633	HP:0002633	Vasculitis	0	SAMHD1 CL E G H	25939	15925	OMIM:614415	Chilblain lupus 2	.	55
HP:0002633	HP:0002633	Vasculitis	0	SCN10A CL E G H	6336	10582	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	146
HP:0002633	HP:0002633	Vasculitis	0	SCN11A CL E G H	11280	10583	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	19
HP:0002633	HP:0002633	Vasculitis	0	SCN9A CL E G H	6335	10597	ORPHA:90026	Primary erythromelalgia	HP:0040283 - Occasional	318
HP:0002633	HP:0002633	Vasculitis	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0002633	HP:0002633	Vasculitis	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0002633	HP:0002633	Vasculitis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	2
HP:0002633	HP:0002633	Vasculitis	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002633	HP:0002633	Vasculitis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent	3
HP:0002633	HP:0002633	Vasculitis	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0002633	HP:0002633	Vasculitis	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	12
HP:0002633	HP:0002633	Vasculitis	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional	131
HP:0002633	HP:0002633	Vasculitis	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0002633	HP:0002633	Vasculitis	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0002633	HP:0002633	Vasculitis	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0002633	HP:0002633	Vasculitis	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0002633	HP:0002633	Vasculitis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0002633	HP:0002633	Vasculitis	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0002633	HP:0002633	Vasculitis	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002633	HP:0002633	Vasculitis	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0002633	HP:0002633	Vasculitis	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0002633	HP:0005300	Nodular inflammatory vasculitis	1	CL E G H
HP:0002633	HP:0005291	Inflammatory arteriopathy	1	CL E G H
HP:0002633	HP:0200029	Vasculitis in the skin	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002633	HP:0011944	Small vessel vasculitis	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040281 - Very frequent	3
HP:0002633	HP:0005318	Cerebral vasculitis	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0002633	HP:0200029	Vasculitis in the skin	1	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040284 - Very rare	46
HP:0002633	HP:0011944	Small vessel vasculitis	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0002633	HP:0011944	Small vessel vasculitis	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0002633	HP:0005310	Large vessel vasculitis	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0002633	HP:0200029	Vasculitis in the skin	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23	.	15
HP:0002633	HP:0200029	Vasculitis in the skin	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0002633	HP:0005318	Cerebral vasculitis	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0002633	HP:0005318	Cerebral vasculitis	1	POLR3F CL E G H	10621	15763	OMIM:619872
HP:0002633	HP:0200029	Vasculitis in the skin	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002633	HP:0200029	Vasculitis in the skin	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0002633	HP:0200029	Vasculitis in the skin	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0002633	HP:0005310	Large vessel vasculitis	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002633	HP:0011944	Small vessel vasculitis	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002633	HP:0200030	Punctate vasculitis skin lesions	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0002633	HP:0200030	Punctate vasculitis skin lesions	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56