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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 chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Vasculitis ClinVar PMID:25741868 NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:23074996 RGD:8661749 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Vasculitis ClinVar PMID:25741868 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:16504995 RGD:1598487 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il18 interleukin 18 IDA RGD PMID:19717152 RGD:4889401 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Mocos molybdenum cofactor sulfurase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29935280 NCBI chr18:15,931,659...15,977,415
Ensembl chr18:15,931,654...15,977,187 		JBrowse link
G Mpo myeloperoxidase ISO microscopic polyangiitis RGD PMID:21071471 RGD:5130969 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:polymorphism:exon:p.E298D (human) RGD PMID:14583572 RGD:7775052 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Senp1 SUMO specific peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chr 7:129,163,173...129,226,766
Ensembl chr 7:129,165,774...129,221,598 		JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1684994 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Serpina3n serpin family A member 3N ISO RGD PMID:12685871 RGD:1580110 NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433 		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 treatment ISO associated with Severe Congenital Neutropenia; RGD PMID:20100783 RGD:11039037 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		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 molecule exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:27094919 RGD:127285685 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Csf3 colony stimulating factor 3 ISO protein:increased expression:serum: RGD PMID:23087180 RGD:11039411 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:23873874 RGD:11340221 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:12148596 RGD:8662455 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Itgam integrin subunit alpha M ISO associated with crescentic glomerulonephritis;protein:increased expression:monocyte (human) RGD PMID:18846416 RGD:7241813 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Ltf lactotransferrin ISO RGD PMID:23201854 RGD:7243106 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mpo myeloperoxidase disease_progression ISO RGD PMID:23085883 RGD:7174703 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 susceptibility ISO DNA:snp:cds:c.1858C>T (rs2476601) (human) RGD PMID:22880107 RGD:11533997 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:21190299 RGD:7240543 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tnf tumor necrosis factor severity ISO protein:increased expression:serum RGD PMID:19690440 RGD:7245518 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:17139375 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 susceptibility ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS ClinVar
OMIM		 PMID:25803835 PMID:26476236 PMID:32447396 PMID:34363755 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892 		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 HCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis OMIM
ClinVar		 PMID:34536415 NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693 		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 subfamily B member 1A ISO DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		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 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 8:123,556,286...123,561,841 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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		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 chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment		 ISO 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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il18 interleukin 18 susceptibility
no_association		 ISO 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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		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 chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732 		JBrowse link
G Itgam integrin subunit alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Mbl2 mannose binding lectin 2 severity
susceptibility		 ISO protein:decreased secretion:serum (human)
DNA:polymorphisms:5' utr, exon:multiple (human)		 RGD PMID:15693089 PMID:15730518 RGD:1582155, RGD:1582154 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		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 chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Nos3 nitric oxide synthase 3 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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480 		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 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 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 chr20:3,314,830...3,318,106 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-DMa RT1 class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432 		JBrowse link
G RT1-DMb RT1 class II, locus DMb no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340 		JBrowse link
G RT1-M5 RT1 class Ib, locus M5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101 		JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		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 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF 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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)		 RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
central nervous system vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism:HLA-A69 RGD PMID:28734234 RGD:329961297 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		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 chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810 		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 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		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 chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548 		JBrowse link
Eales Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO DNA:SNP, haplotype:promoter RGD PMID:20720222 RGD:7364860 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:19585364 RGD:7401211 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human) RGD PMID:9756436 RGD:7365108 NCBI chr20:3,314,830...3,318,106 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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		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 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:21412229 RGD:6893495 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21411717 RGD:5490596 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Fcar Fc alpha receptor ISO RGD PMID:22147912 RGD:7242064 NCBI chr 1:69,626,458...69,660,558 JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:nasal cavity mucosa, blood vessel: RGD PMID:2772560 RGD:8548880 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:11838849 RGD:1580480 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25288799 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:20156770 RGD:5684985 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810 		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 IMP RGD PMID:8231108 RGD:8549573 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		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 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Kng1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Kng2 kininogen 2 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin 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 chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human) RGD PMID:11836690 RGD:5147830 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ager advanced glycosylation end product-specific receptor severity ISO RGD PMID:22337222 RGD:8695960 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446961 NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNP: :rs 1555115(human) RGD PMID:19882345 RGD:9685030 NCBI chr20:4,490,169...4,504,002
Ensembl chr20:4,489,517...4,503,341 		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 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd40 CD40 molecule 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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12563087 RGD:11352236 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Clu clusterin treatment ISO RGD PMID:23956692 RGD:8975365 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Crp C-reactive protein susceptibility ISO DNA:SNP: :1444 C-->T(human) RGD PMID:18710885 RGD:9495921 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Eln elastin ISO RGD PMID:21356372 RGD:9585741 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22081228 PMID:22446962 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:11839635 RGD:1582494 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18720262 RGD:8695977 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmox1 heme oxygenase 1 no_association ISO RGD PMID:14521259 RGD:1598409 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO RGD PMID:20957478 RGD:5147383 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:polymorphism:5' utr:190G>C (rs1043618) (human) RGD PMID:23870089 RGD:8662464 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human) RGD PMID:23870089 RGD:8662464 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21958311 RGD:5684363 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:22361326 PMID:8777922 RGD:6482661, RGD:7401221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:22367425 RGD:7829825 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779 		JBrowse link
G Mbl1 mannose binding lectin 1 ISO RGD PMID:24721319 RGD:8693744 NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:24721319 PMID:15144709 RGD:8693744, RGD:8693748 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:blood RGD PMID:12626459 PMID:18311803 RGD:1580170, RGD:8547899 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma RGD PMID:21410593 RGD:5685654 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Selp selectin P ISO RGD PMID:20079717 RGD:6478695 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:blood RGD PMID:12626459 RGD:1580170 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:monocyte: RGD PMID:18353240 RGD:7777156 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15470196 RGD:1580572 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330 		JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845 		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 chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		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 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		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 chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331 		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 chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:15965421 RGD:8655581 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15965421 RGD:8655581 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Polyarteritis Nodosa, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arvcf ARVCF, delta catenin family member 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 chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805 		JBrowse link
G Atp6v1e1 ATPase H+ transporting 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 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584 		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 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985 		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 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720 		JBrowse link
G C11h22orf39 similar to human chromosome 22 open reading frame 39 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 chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235 		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 chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		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 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451 		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 chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992 		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 chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		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 chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502 		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 chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823 		JBrowse link
G Ess2 ess-2 splicing factor homolog 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 chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846 		JBrowse link
G Gnb1l G protein subunit beta 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 chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466 		JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta 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 chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392 		JBrowse link
G Gsc2 goosecoid homeobox 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 chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126 		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 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277 		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 chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529 		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 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174 		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 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590 		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 chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233 		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 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		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 chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305 		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 chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393 		JBrowse link
G Slc25a1 solute carrier family 25 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 chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781 		JBrowse link
G Slc25a18 solute carrier family 25 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 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372 		JBrowse link
G Tango2 transport and golgi organization 2 homolog 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 chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
G Tbx1 T-box transcription factor 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 chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		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 4:153,695,191...153,700,104
Ensembl chr 4:153,698,194...153,699,912 		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 chr11:83,086,578...83,087,933 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 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917 		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 chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		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 chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087 		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 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
retinal vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen ISO RGD PMID:19834028 RGD:11039401 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		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 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:19834028 RGD:11039401 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds HLA B-5 (human) RGD PMID:12608042 RGD:7364920 NCBI chr20:3,314,830...3,318,106 JBrowse link
Shwartzman phenomenon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO RGD PMID:7593621 RGD:11049456 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:1381315 RGD:11060272 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		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 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868 		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 ISO RGD PMID:23087180 RGD:11039411 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146691 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		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 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Mlx MAX dimerization protein MLX 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 chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23100088 RGD:8693315 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:23100088 RGD:8693315 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphism,haplotypes::HLA-A*3001 (human) RGD PMID:17428358 RGD:401827100 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism,haplotype::DRB1*0802 (human) RGD PMID:17428358 RGD:401827100 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179 		JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO DNA:polymorphism: :p.H131R (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fcgr3a Fc gamma receptor 3A ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 onset ISO associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)		 RGD PMID:20064872 PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		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 IEP
IDA		 mRNA, protein:increased expression:femoral artery (rat) RGD PMID:23069071 PMID:23069071 RGD:7207785, RGD:7207785 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP mRNA:increased expression:femoral artery (rat) RGD PMID:19572944 RGD:5508315 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Eln elastin ISO protein:increased expression:blood: RGD PMID:8763587 RGD:9585753 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 susceptibility ISO DNA:polymorphisms,haplotypes::HLA���A*03:01,HLA���A*29:01 (human) RGD PMID:32567246 RGD:401827144 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms, haplotype: :HLA���DRB1*04:02, HLA���DRB1*16:01, HLA���DRB1*01:01 (human) RGD PMID:32567246 RGD:401827144 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Ucn urocortin IEP
IDA		 mRNA:increased expression:femoral artery (rat) RGD PMID:19572944 PMID:19572944 RGD:5508315, RGD:5508315 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO
IEP		 protein:increased expression:femoral artery: RGD PMID:12086338 PMID:23069071 RGD:1580352, RGD:7207785 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir223 microRNA 223 IMP RGD PMID:32141571 RGD:26884338 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Pros1 protein S ISO RGD PMID:12907438 RGD:1578677 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924 NCBI chr20:3,314,830...3,318,106 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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      cardiovascular system disease 5519
        vascular disease 4023
          vasculitis 192
            AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS 1
            Arteritis + 69
            Autoinflammation with Pulmonary and Cutaneous Vasculitis 1
            Behcet's disease 76
            Cogan syndrome + 1
            Cutaneous Small Vessel Lymphocytic Vasculitis 0
            Granulomatous Vasculitis 1
            Kawasaki disease 32
            Malignant Atrophic Papulosis 0
            Nodular Lymphocytic Vasculitis 0
            Shwartzman phenomenon 2
            Systemic Autoinflammatory Disease with Vasculitis 1
            Systemic Vasculitis + 69
            Vasculitis of the Skin 1
            aortitis 1
            central nervous system vasculitis + 26
            cryoglobulinemic vasculitis 2
            granulomatous angiitis 0
            hypersensitivity vasculitis + 18
            livedoid vasculitis 0
            phlebitis + 4
            retinal vasculitis + 7
            thromboangiitis obliterans 7
paths to the root