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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:vasculitis
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Accession:DOID:865 term browser browse the term
Definition:A vascular disease that is characterized by inflammation of the blood vessels. (DO)
Synonyms:exact_synonym: Angiitides;   Angiitis;   Vasculitides
 primary_id: MESH:D014657
 xref: EFO:0006803;   GARD:9565;   NCI:C26912
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:12367559 RGD:5683623 NCBI chr13:74,840,485...74,956,993
Ensembl chr13:74,840,487...74,956,929 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccm2 cerebral cavernous malformation 2 ISO ClinVar Annotator: match by term: Vasculitis ClinVar PMID:25741868 NCBI chr11:6,496,887...6,546,761
Ensembl chr11:6,496,887...6,546,744 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IMP RGD PMID:23074996 RGD:8661749 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Vasculitis ClinVar PMID:25741868 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 6:88,170,873...88,184,014
Ensembl chr 6:88,170,873...88,184,014 		JBrowse link
G Gm32234 predicted gene, 32234 ISO ClinVar Annotator: match by term: Vasculitis ClinVar PMID:25741868 NCBI chr10:40,330,078...40,342,623 JBrowse link
G Il10 interleukin 10 ISO RGD PMID:16504995 RGD:1598487 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:19717152 RGD:4889401 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Mocos molybdenum cofactor sulfurase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29935280 NCBI chr18:24,786,538...24,834,634
Ensembl chr18:24,786,748...24,834,632 		JBrowse link
G Mpo myeloperoxidase ISO microscopic polyangiitis RGD PMID:21071471 RGD:5130969 NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility ISO DNA:polymorphism:exon:p.E298D (human) RGD PMID:14583572 RGD:7775052 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Senp1 SUMO1/sentrin specific peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr15:97,936,625...97,991,625
Ensembl chr15:97,936,625...97,991,625 		JBrowse link
G Serpina3b serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO RGD PMID:12685871 RGD:1580110 NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804 		JBrowse link
allergic cutaneous vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO associated with Severe Congenital Neutropenia; RGD PMID:20100783 RGD:11039037 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:27094919 RGD:127285685 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO protein:increased expression:serum: RGD PMID:23087180 RGD:11039411 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human) RGD PMID:19815671 RGD:7204687 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G F3 coagulation factor III ISO RGD PMID:23873874 RGD:11340221 NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:12148596 RGD:8662455 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Itgam integrin alpha M ISO associated with crescentic glomerulonephritis;protein:increased expression:monocyte (human) RGD PMID:18846416 RGD:7241813 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663 		JBrowse link
G Ltf lactotransferrin ISO RGD PMID:23201854 RGD:7243106 NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mpo myeloperoxidase disease_progression ISO RGD PMID:23085883 RGD:7174703 NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) susceptibility ISO DNA:snp:cds:c.1858C>T (rs2476601) (human) RGD PMID:22880107 RGD:11533997 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Tlr2 toll-like receptor 2 IDA RGD PMID:21190299 RGD:7240543 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tnf tumor necrosis factor severity ISO protein:increased expression:serum RGD PMID:19690440 RGD:7245518 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
aortitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Large vessel vasculitis ClinVar NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
Arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Proc protein C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17139375 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
Autoinflammation with Pulmonary and Cutaneous Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hck hemopoietic cell kinase ISO ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis OMIM
ClinVar		 PMID:34536415 NCBI chr 2:152,950,388...152,993,361
Ensembl chr 2:152,950,388...152,993,361 		JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Ace angiotensin I converting enzyme susceptibility
no_association		 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928 PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037 		JBrowse link
G Apoa1 apolipoprotein A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835 		JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)		 RGD PMID:19782713 PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)		 RGD PMID:15501397 PMID:15009175 PMID:17067435 RGD:4892106, RGD:8551827, RGD:8551814 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008 		JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-DMa histocompatibility 2, class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,338,667...34,358,075
Ensembl chr17:34,338,515...34,358,075 		JBrowse link
G H2-DMb1 histocompatibility 2, class II, locus Mb1 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,372,165...34,379,203
Ensembl chr17:34,372,046...34,379,204 		JBrowse link
G H2-DMb2 histocompatibility 2, class II, locus Mb2 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,362,203...34,370,527
Ensembl chr17:34,362,281...34,370,529 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*15 (human)		 CTD
RGD		 PMID:12622781 PMID:20622878 PMID:23396137 RGD:7364918 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-M5 histocompatibility 2, M region locus 5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr17:37,294,677...37,308,847
Ensembl chr17:37,294,953...37,300,429 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 no_association
disease_progression		 ISO DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human) 		RGD PMID:16101830 PMID:11426025 PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility
no_association		 ISO DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.R241G (human)		 CTD
RGD		 PMID:8712863 PMID:12074830 PMID:12808331 PMID:11409120 PMID:10792421 RGD:8158115, RGD:8547575, RGD:8158123 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Ifng interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:		 RGD PMID:21334264 PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment		 ISO
IDA		 DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 More... RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Il18 interleukin 18 susceptibility
no_association		 ISO
IMP		 DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)		 RGD PMID:14727452 PMID:15234532 PMID:21532063 PMID:16273766 PMID:17055358 RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);		 RGD PMID:22483685 PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839 		JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Irf8 interferon regulatory factor 8 susceptibility ISO DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)
protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)
DNA:Hypermethylation		 RGD PMID:26794091 PMID:28592884 PMID:28881647 RGD:329902077, RGD:329955373, RGD:329902079 NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433 		JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Itgal integrin alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 7:126,895,404...126,934,309
Ensembl chr 7:126,895,432...126,934,310 		JBrowse link
G Itgam integrin alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663 		JBrowse link
G Itgb2 integrin beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
severity		 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)		 RGD PMID:15730518 PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association		 ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet disease
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)		 ClinVar
RGD		 PMID:28492532 PMID:19748964 PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility
no_association		 ISO DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)		 RGD PMID:11908569 PMID:21957880 PMID:15705632 PMID:16463158 RGD:7771576, RGD:7775050, RGD:7775048, RGD:7771577 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026 		JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)		 RGD PMID:22205606 PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)		 CTD
RGD		 PMID:23291587 PMID:20438790 PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tlr2 toll-like receptor 2 no_association
susceptibility		 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)		 RGD PMID:23908180 PMID:18336589 PMID:19796535 PMID:24255044 RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		JBrowse link
G Tlr4 toll-like receptor 4 no_association
susceptibility		 ISO mRNA:increased expression:mononulcear cell:
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
DNA:SNP:3'UTR: rs7037117(human)		 RGD PMID:18234118 PMID:18336589 PMID:19796535 PMID:18408113 RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum		 RGD PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 More... RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease		 ClinVar
RGD		 PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787 RGD:7401213 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)		 RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
central nervous system vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO DNA:polymorphism:HLA-A69 RGD PMID:28734234 RGD:329961297 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
Churg-Strauss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:serum (human) RGD PMID:21266446 RGD:11081158 NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr19:58,224,013...58,444,387
Ensembl chr19:58,224,036...58,444,341 		JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150 		JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) RGD PMID:26219420 RGD:30296664 NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850 		JBrowse link
Eales Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 ISO DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) RGD PMID:9756436 RGD:7365108 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) RGD PMID:9756436 RGD:7365108 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP, haplotype:promoter RGD PMID:20720222 RGD:7364860 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:19585364 RGD:7401211 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il6 interleukin 6 susceptibility ISO protein:increased expression:serum:
DNA:polymorphism:promoter:-174G>C(human)		 RGD PMID:22025890 PMID:22025890 RGD:7829790, RGD:7829790 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Tnf tumor necrosis factor disease_progression
severity		 ISO DNA:SNP, haplotype:promoter
protein:increased expression:serum:
protein:increased expression:vitreous fluid:		 RGD PMID:20720222 PMID:19585364 PMID:21849807 PMID:21394064 PMID:21139707 RGD:7364860, RGD:7401211, RGD:7394772, RGD:7387275, RGD:7387277 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
epithelial basement membrane dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epithelial basement membrane dystrophy		 OMIM
CTD
ClinVar		 PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532 NCBI chr13:56,757,399...56,787,172
Ensembl chr13:56,757,336...56,787,375 		JBrowse link
granulomatosis with polyangiitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:nasal cavity epithelium
protein:increased expression:blood, T cell		 RGD PMID:11529927 PMID:12716450 RGD:4145634, RGD:6893409 NCBI chr 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:12858455 RGD:4892114 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21412229 RGD:6893495 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21411717 RGD:5490596 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) RGD PMID:12022356 RGD:7204724 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:nasal cavity mucosa, blood vessel: RGD PMID:2772560 RGD:8548880 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:11838849 RGD:1580480 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25288799 NCBI chr10:79,715,499...79,719,008
Ensembl chr10:79,710,310...79,719,008 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:20156770 RGD:5684985 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108 		JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150 		JBrowse link
Granulomatous Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:8231108 RGD:8549573 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme disease_progression ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15315169 RGD:11038920 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Agt angiotensinogen severity ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.T174M (human)		 RGD PMID:16521052 PMID:20702504 RGD:11039045, RGD:11039055 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G C3 complement component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518C>T (human)
protein:increased expression:serum (human)		 RGD PMID:26234573 PMID:25839768 RGD:11522500, RGD:11528567 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cd86 CD86 antigen treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il27 interleukin 27 ISO mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" RGD PMID:33280050 RGD:126790550 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933 		JBrowse link
G Kng1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828 		JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr16:22,804,602...22,847,851
Ensembl chr16:22,804,604...22,848,232 		JBrowse link
G Mefv Mediterranean fever susceptibility ISO DNA:mutations:exons:
DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)		 RGD PMID:22451026 PMID:25232290 PMID:20602240 RGD:7349346, RGD:11531116, RGD:7349347 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Plat plasminogen activator, tissue ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
Kawasaki disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:16982510 RGD:5686751 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Ager advanced glycosylation end product-specific receptor severity ISO RGD PMID:22337222 RGD:8695960 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Blk B lymphoid kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446961 NCBI chr14:63,610,286...63,654,636
Ensembl chr14:63,610,285...63,654,486 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNP: :rs 1555115(human) RGD PMID:19882345 RGD:9685030 NCBI chr17:34,573,763...34,588,466
Ensembl chr17:34,573,796...34,588,469 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:17672867 RGD:8551811 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 susceptibility
treatment		 ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human)
DNA:polymorphisms, haplotype:multiple		 RGD PMID:17672867 PMID:15962231 PMID:20628649 RGD:8551811, RGD:8551815, RGD:8551812 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd40 CD40 antigen susceptibility ISO DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22446961 PMID:22446962 PMID:22645426 RGD:8547776 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12563087 RGD:11352236 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Clu clusterin treatment ISO RGD PMID:23956692 RGD:8975365 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Crp C-reactive protein, pentraxin-related susceptibility ISO DNA:SNP: :1444 C-->T(human) RGD PMID:18710885 RGD:9495921 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Eln elastin IEP RGD PMID:21356372 RGD:9585741 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO RGD PMID:11839635 RGD:1582494 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18720262 RGD:8695977 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299 		JBrowse link
G Hmox1 heme oxygenase 1 no_association ISO RGD PMID:14521259 RGD:1598409 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hp haptoglobin ISO RGD PMID:20957478 RGD:5147383 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Hspa1a heat shock protein 1A ISO DNA:polymorphism:5' utr:190G>C (rs1043618) (human) RGD PMID:23870089 RGD:8662464 NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132 		JBrowse link
G Hspa1l heat shock protein 1-like ISO DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human) RGD PMID:23870089 RGD:8662464 NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261 		JBrowse link
G Il13 interleukin 13 IDA RGD PMID:21958311 RGD:5684363 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il18 interleukin 18 susceptibility
disease_progression		 ISO DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human)
DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human)		 RGD PMID:18484687 PMID:15345916 PMID:19288449 RGD:8655874, RGD:8655924, RGD:8655898 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1b interleukin 1 beta IDA
ISO		 RGD PMID:22361326 PMID:8777922 RGD:6482661, RGD:7401221 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:22367425 RGD:7829825 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Itpkc inositol 1,4,5-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chr 7:26,906,595...26,928,042
Ensembl chr 7:26,906,597...26,928,086 		JBrowse link
G Mbl1 mannose-binding lectin (protein A) 1 IEP RGD PMID:24721319 RGD:8693744 NCBI chr14:40,873,413...40,885,861
Ensembl chr14:40,873,415...40,881,558 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility IEP
ISO		 DNA:polymorphism:cds: RGD PMID:24721319 PMID:15144709 RGD:8693744, RGD:8693748 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IMP		 protein:increased expression:blood RGD PMID:12626459 PMID:18311803 RGD:1580170, RGD:8547899 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nppb natriuretic peptide type B ISO protein:increased expression:plasma RGD PMID:21410593 RGD:5685654 NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662 		JBrowse link
G Selp selectin, platelet ISO RGD PMID:20079717 RGD:6478695 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO protein:increased expression:blood RGD PMID:12626459 RGD:1580170 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:monocyte: RGD PMID:18353240 RGD:7777156 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment		 ISO DNA:SNP: :-308G>A (human) RGD PMID:14703611 PMID:18710885 PMID:8777922 PMID:14744383 RGD:1580318, RGD:9495921, RGD:7401221, RGD:7401183 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15470196 RGD:1580572 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr4 Fc receptor, IgG, low affinity IV ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr19:47,003,120...47,013,766
Ensembl chr19:47,003,137...47,013,766 		JBrowse link
G Itgam integrin alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663 		JBrowse link
G Selp selectin, platelet ISO RGD PMID:20179168 RGD:6478687 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595 		JBrowse link
Microscopic Polyangiitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 C-X3-C motif chemokine ligand 1 severity ISO protein:increased expression:serum RGD PMID:19327232 RGD:9491765 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:blood, T cell RGD PMID:19327232 RGD:9491765 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
phlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:34434487 NCBI chr15:89,206,923...89,208,934
Ensembl chr15:89,206,923...89,208,934 		JBrowse link
polyarteritis nodosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:23470165 RGD:9068463 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:15965421 RGD:8655581 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr19:58,224,013...58,444,387
Ensembl chr19:58,224,036...58,444,341 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15965421 RGD:8655581 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Polyarteritis Nodosa, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2510002D24Rik RIKEN cDNA 2510002D24 gene ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,655,263...18,658,910
Ensembl chr16:18,655,328...18,658,910 		JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826 		JBrowse link
G Atp6v1e1 ATPase, H+ transporting, lysosomal V1 subunit E1 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,772,205...120,799,659
Ensembl chr 6:120,771,266...120,799,754 		JBrowse link
G Bcl2l13 BCL2 like 13 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,813,167...120,869,803
Ensembl chr 6:120,813,173...120,869,803 		JBrowse link
G Bid BH3 interacting domain death agonist ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,870,080...120,894,074
Ensembl chr 6:120,868,891...120,893,814 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
G Cecr2 CECR2, histone acetyl-lysine reader ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,643,275...120,748,152
Ensembl chr 6:120,643,330...120,748,151 		JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,595,597...18,597,012
Ensembl chr16:18,595,597...18,597,012 		JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:17,658,219...17,709,592
Ensembl chr16:17,657,346...17,716,426 		JBrowse link
G Dgcr6 DiGeorge syndrome critical region gene 6 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:17,870,736...17,889,497
Ensembl chr16:17,870,724...17,889,496 		JBrowse link
G Ess2 ess-2 splicing factor ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:17,718,573...17,729,225
Ensembl chr16:17,718,573...17,729,212 		JBrowse link
G Gnb1l guanine nucleotide binding protein (G protein), beta polypeptide 1-like ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,316,029...18,385,430
Ensembl chr16:18,317,463...18,385,429 		JBrowse link
G Gp1bb glycoprotein Ib, beta polypeptide ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,439,069...18,441,153
Ensembl chr16:18,439,067...18,441,153 		JBrowse link
G Gsc2 goosecoid homebox 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:17,730,978...17,732,891
Ensembl chr16:17,730,971...17,732,923 		JBrowse link
G Hdhd5 haloacid dehalogenase like hydrolase domain containing 5 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,486,453...120,508,319
Ensembl chr 6:120,486,455...120,508,280 		JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059 		JBrowse link
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520 		JBrowse link
G Mical3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,908,507...121,150,716
Ensembl chr 6:120,908,668...121,107,959 		JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,690,767...18,695,875
Ensembl chr16:18,690,768...18,695,612 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796 		JBrowse link
G Prodh proline dehydrogenase ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:17,889,593...17,907,147
Ensembl chr16:17,878,221...17,908,067 		JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,440,561...18,448,688
Ensembl chr16:18,439,252...18,448,704 		JBrowse link
G Slc25a1 solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:17,743,075...17,746,083
Ensembl chr16:17,743,087...17,746,083 		JBrowse link
G Slc25a18 solute carrier family 25 (mitochondrial carrier), member 18 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,750,527...120,771,297
Ensembl chr 6:120,750,539...120,771,297 		JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tmem121b transmembrane protein 121B ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:120,465,900...120,470,907
Ensembl chr 6:120,465,900...120,470,768 		JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:17,716,501...17,717,888
Ensembl chr16:17,716,501...17,717,888 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:121,187,666...121,209,304
Ensembl chr 6:121,187,655...121,203,813 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823 		JBrowse link
G Ufd1 ubiquitin recognition factor in ER-associated degradation 1 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr16:18,630,486...18,654,011
Ensembl chr16:18,630,529...18,654,011 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 6:121,222,865...121,247,876
Ensembl chr 6:121,222,865...121,247,876 		JBrowse link
retinal vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen IDA RGD PMID:19834028 RGD:11039401 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human) RGD PMID:16799040 RGD:9491394 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 ISO associated with Behcet Syndrome; DNA:polymorphism:cds HLA B-5 (human) RGD PMID:12608042 RGD:7364920 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds HLA B-5 (human) RGD PMID:12608042 RGD:7364920 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Il6 interleukin 6 IMP RGD PMID:19834028 RGD:11039401 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
Shwartzman phenomenon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 IMP RGD PMID:7593621 RGD:11049456 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il6 interleukin 6 treatment IMP RGD PMID:1381315 RGD:11060272 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
Systemic Autoinflammatory Disease with Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Autoinflammatory disease, systemic, with vasculitis | ClinVar Annotator: match by term: LAVLI SYNDROME | ClinVar Annotator: match by term: LYN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36122175 PMID:36932076 NCBI chr 4:3,676,865...3,791,613
Ensembl chr 4:3,678,115...3,813,122 		JBrowse link
Systemic Vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 (granulocyte) ISO RGD PMID:23087180 RGD:11039411 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146691 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299 		JBrowse link
Takayasu's arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO protein:decreased expression:serum RGD PMID:20579752 RGD:8695992 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism,haplotype::DRB1*0802 (human) RGD PMID:17428358 RGD:401827100 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO DNA:polymorphism,haplotype::HLA-B*5201 (human) RGD PMID:17428358 RGD:401827100 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO DNA:polymorphism,haplotypes::HLA-A*3001 (human) RGD PMID:17428358 RGD:401827100 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G Il2 interleukin 2 susceptibility
disease_progression		 ISO DNA:polymorphism::-300G>T(human) RGD PMID:17002904 PMID:2574087 RGD:8663467, RGD:8693331 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Mlx MAX-like protein X susceptibility ISO DNA:SNP:cd: p.Q139R A>G (rs665268) (human)
DNA:missense mutation:cd: p.Q139R(rs665268) (human)		 RGD PMID:30354298 PMID:23830516 RGD:401794441, RGD:401824641 NCBI chr11:100,978,116...100,983,033
Ensembl chr11:100,978,103...100,983,033 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23100088 RGD:8693315 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:23100088 RGD:8693315 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:15742444 RGD:1581162 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO RGD PMID:9844760 RGD:11059502 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134 		JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta onset ISO associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)		 RGD PMID:20064872 PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il17a interleukin 17A severity
susceptibility		 ISO mRNA, protein:increased expression:temporal artery (human)
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)		 RGD PMID:22993227 PMID:24919468 RGD:8698666, RGD:9068454 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)		 RGD PMID:20331879 PMID:20331879 RGD:8655865, RGD:8655865 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Jag1 jagged 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 7:78,783,516...78,798,808
Ensembl chr 7:78,783,516...78,798,808 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO protein:increased expression:temporal artery (human)
protein:increased activity:temporal artery
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:serum		 RGD PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867 RGD:1580575, RGD:8657040, RGD:8547902, RGD:8547902, RGD:8547826 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)		 RGD PMID:23946333 PMID:16078327 RGD:7829739, RGD:7829744 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association		 ISO DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)		 RGD PMID:19531762 PMID:21586524 RGD:7777158, RGD:7777159 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
thromboangiitis obliterans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor treatment ISO mRNA, protein:increased expression:femoral artery (rat) RGD PMID:23069071 PMID:23069071 RGD:7207785, RGD:7207785 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO mRNA:increased expression:femoral artery (rat) RGD PMID:19572944 RGD:5508315 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		JBrowse link
G Eln elastin ISO protein:increased expression:blood: RGD PMID:8763587 RGD:9585753 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms, haplotype: :HLA���DRB1*04:02, HLA���DRB1*16:01, HLA���DRB1*01:01 (human) RGD PMID:32567246 RGD:401827144 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO DNA:polymorphisms,haplotypes::HLA���A*03:01,HLA���A*29:01 (human) RGD PMID:32567246 RGD:401827144 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075 		JBrowse link
G Ucn urocortin ISO mRNA:increased expression:femoral artery (rat) RGD PMID:19572944 RGD:5508315 NCBI chr 5:31,295,333...31,296,239
Ensembl chr 5:31,295,407...31,296,173 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:femoral artery: RGD PMID:12086338 PMID:23069071 RGD:1580352, RGD:7207785 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Mir223 microRNA 223 ISO RGD PMID:32141571 RGD:26884338 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532 		JBrowse link
G Pros1 protein S (alpha) ISO RGD PMID:12907438 RGD:1578677 NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709 		JBrowse link
Vasculitis of the Skin term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human) RGD PMID:11844145 RGD:11528536 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      cardiovascular system disease 4559
        vascular disease 3236
          vasculitis 192
            Arteritis + 69
            Autoinflammation with Pulmonary and Cutaneous Vasculitis 1
            Behcet's disease 79
            Cogan syndrome + 1
            Cutaneous Small Vessel Lymphocytic Vasculitis 0
            Granulomatous Vasculitis 1
            Kawasaki disease 31
            Malignant Atrophic Papulosis 0
            Nodular Lymphocytic Vasculitis 0
            Shwartzman phenomenon 2
            Systemic Autoinflammatory Disease with Vasculitis 1
            Systemic Vasculitis + 68
            Vasculitis of the Skin 1
            aortitis 1
            central nervous system vasculitis + 25
            cryoglobulinemic vasculitis 2
            granulomatous angiitis 0
            hypersensitivity vasculitis + 18
            livedoid vasculitis 0
            phlebitis + 5
            retinal vasculitis + 8
            thromboangiitis obliterans 7
paths to the root