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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.


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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 chrNW_004955418:15,859,951...15,974,141
Ensembl chrNW_004955418:15,862,729...15,916,169
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
JBrowse link
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Vasculitis ClinVar PMID:25741868 NCBI chrNW_004955456:7,232,224...7,251,012
Ensembl chrNW_004955456:7,227,667...7,256,206
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:23074996 RGD:8661749 NCBI chrNW_004955420:25,641,184...25,664,413 JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Vasculitis ClinVar PMID:25741868 NCBI chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079
JBrowse link
G Gata2 GATA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:16504995 RGD:1598487 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:19717152 RGD:4889401 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:1684994 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G Mocos molybdenum cofactor sulfurase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29935280 NCBI chrNW_004955402:22,754,034...22,808,428
Ensembl chrNW_004955402:22,754,064...22,808,167
JBrowse link
G Mpo myeloperoxidase ISO microscopic polyangiitis RGD PMID:21071471 RGD:5130969 NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chrNW_004955409:25,691,673...25,695,151
Ensembl chrNW_004955409:25,691,534...25,697,520
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:polymorphism:exon:p.E298D (human) RGD PMID:14583572 RGD:7775052 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Senp1 SUMO specific peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28569748 NCBI chrNW_004955500:6,924,445...6,978,482
Ensembl chrNW_004955500:6,926,548...6,979,230
JBrowse link
G Serpina3 serpin family A member 3 ISO RGD PMID:12685871 RGD:1580110 NCBI chrNW_004955438:17,758,763...17,766,113
Ensembl chrNW_004955438:17,758,718...17,766,180
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 chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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 Csf3 colony stimulating factor 3 ISO protein:increased expression:serum: RGD PMID:23087180 RGD:11039411 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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 chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G F3 coagulation factor III, tissue factor ISO RGD PMID:23873874 RGD:11340221 NCBI chrNW_004955423:254,060...264,448
Ensembl chrNW_004955423:254,189...264,159
JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:serum (human) RGD PMID:12148596 RGD:8662455 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Itgam integrin subunit alpha M ISO associated with crescentic glomerulonephritis;protein:increased expression:monocyte (human) RGD PMID:18846416 RGD:7241813 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
JBrowse link
G Ltf lactotransferrin ISO RGD PMID:23201854 RGD:7243106 NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:urine (human) RGD PMID:17898039 RGD:7207083 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Mpo myeloperoxidase disease_progression ISO RGD PMID:23085883 RGD:7174703 NCBI chrNW_004955451:4,743,744...4,753,358
Ensembl chrNW_004955451:4,743,744...4,753,358
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 chrNW_004955435:17,082,762...17,139,067 JBrowse link
G Tlr2 toll like receptor 2 ISO RGD PMID:21190299 RGD:7240543 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tnf tumor necrosis factor severity ISO protein:increased expression:serum RGD PMID:19690440 RGD:7245518 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity ISO protein:increased expression:serum, granulocyte RGD PMID:19690440 RGD:7245518 NCBI chrNW_004955486:1,790,531...1,817,986
Ensembl chrNW_004955486:1,792,115...1,818,362
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 chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
Arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102010850 cytochrome P450 1A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:17139375 NCBI chrNW_004955459:3,097,229...3,105,566
Ensembl chrNW_004955459:3,094,120...3,104,135
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 chrNW_004955422:28,934,512...28,986,998
Ensembl chrNW_004955422:28,932,653...28,986,998
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1 ATP binding cassette subfamily B member 1 ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chrNW_004955432:4,911,774...5,085,349 JBrowse link
G Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619 NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chrNW_004955410:20,428,531...20,459,482
Ensembl chrNW_004955410:20,428,546...20,456,836
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chrNW_004955469:3,437,422...3,478,408
Ensembl chrNW_004955469:3,436,450...3,478,424
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:erythrocyte:
CTD
RGD
PMID:12074830 PMID:17206395 RGD:9068907 NCBI chrNW_004955422:11,783,973...11,826,970
Ensembl chrNW_004955422:11,781,835...11,827,464
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chrNW_004955432:9,521,794...9,727,772
Ensembl chrNW_004955432:9,521,794...9,726,417
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chrNW_004955437:461,235...466,908
Ensembl chrNW_004955437:461,235...470,464
JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chrNW_004955518:3,740,348...3,803,540
Ensembl chrNW_004955518:3,740,348...3,803,539
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G Cxcl8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chrNW_004955474:247,326...250,355
Ensembl chrNW_004955474:241,501...250,643
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chrNW_004955422:15,119,155...15,136,771
Ensembl chrNW_004955422:15,119,173...15,136,771
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chrNW_004955418:15,827,560...15,859,720
Ensembl chrNW_004955418:15,830,371...15,859,720
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chrNW_004955462:7,695,004...7,757,832
Ensembl chrNW_004955462:7,694,939...7,757,463
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Icam1 intercellular adhesion molecule 1 no_association
susceptibility
ISO DNA:SNP:exon:p.R241G (human)
DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331 RGD:8158115 RGD:8158123 RGD:8547575 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755
JBrowse link
G Ifng interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:2154346 PMID:21334264 RGD:8142356 RGD:8142377 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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 chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802
JBrowse link
G Il10 interleukin 10 susceptibility
treatment
onset
disease_progression
ISO DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, serum
RGD
CTD
PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 More... RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
JBrowse link
G Il18 interleukin 18 no_association
susceptibility
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:16273766 PMID:17055358 PMID:21532063 RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chrNW_004955470:7,854,995...7,887,810
Ensembl chrNW_004955470:7,854,988...7,887,883
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNPs,haplotype::rs17375018, rs11209032(human);
DNA:SNP: :rs1884444(human)
RGD PMID:20375120 PMID:22483685 RGD:8549550 RGD:8549565 NCBI chrNW_004955423:23,841,342...23,885,191
Ensembl chrNW_004955423:23,842,475...23,884,904
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chrNW_004955410:25,079,835...25,084,390 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:329902079 RGD:329955373 NCBI chrNW_004955541:973,004...988,493
Ensembl chrNW_004955541:973,022...990,106
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chrNW_004955446:14,309,516...14,421,991
Ensembl chrNW_004955446:14,309,349...14,422,170
JBrowse link
G Itgal integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chrNW_004955493:7,397,813...7,435,420
Ensembl chrNW_004955493:7,397,991...7,439,070
JBrowse link
G Itgam integrin subunit alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201
JBrowse link
G LOC102010850 cytochrome P450 1A1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chrNW_004955450:3,183,958...3,189,488
Ensembl chrNW_004955450:3,183,750...3,189,488
JBrowse link
G LOC102023521 HLA class II histocompatibility antigen, DM beta chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chrNW_004955437:1,544,906...1,551,412
Ensembl chrNW_004955437:1,541,491...1,551,159
JBrowse link
G LOC102023843 HLA class II histocompatibility antigen, DM alpha chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chrNW_004955437:1,558,806...1,562,294
Ensembl chrNW_004955437:1,558,911...1,562,162
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility
severity
ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15693089 PMID:15730518 RGD:1582154 RGD:1582155 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
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 chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555 PMID:22116092 RGD:8547820 RGD:8657044 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
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)
RGD
ClinVar
PMID:15515785 PMID:19748964 PMID:28492532 RGD:13204711 RGD:8158059 NCBI chrNW_004955433:8,746,213...8,780,119
Ensembl chrNW_004955433:8,746,004...8,782,710
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
no_association
ISO DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)
RGD PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880 RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
JBrowse link
G Proz protein Z, vitamin K dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chrNW_004955404:647,217...657,256
Ensembl chrNW_004955404:646,841...657,262
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 chrNW_004955450:1,876,553...1,908,269
Ensembl chrNW_004955450:1,876,409...1,908,185
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 chrNW_004955435:17,082,762...17,139,067 JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12074830 PMID:18341631 RGD:8547693 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chrNW_004955453:14,980,562...14,995,118
Ensembl chrNW_004955453:14,980,562...14,995,608
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chrNW_004955407:31,261,451...31,267,657
Ensembl chrNW_004955407:31,263,863...31,267,727
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 chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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)
RGD
CTD
PMID:20438790 PMID:23001997 PMID:23291587 RGD:8661713 RGD:8661718 NCBI chrNW_004955403:8,061,471...8,144,252
Ensembl chrNW_004955403:8,061,471...8,144,276
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Tlr2 toll like receptor 2 no_association
susceptibility
ISO DNA:polymorphism: :12408G>A(human)
mRNA:increased expression:intestine:
protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044 RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915 NCBI chrNW_004955471:8,011,710...8,019,063
Ensembl chrNW_004955471:8,014,910...8,017,258
JBrowse link
G Tlr3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chrNW_004955403:22,977,882...23,001,392
Ensembl chrNW_004955403:22,979,120...23,001,467
JBrowse link
G Tlr4 toll like receptor 4 susceptibility
no_association
ISO DNA:SNP:3'UTR: rs7037117(human)
mRNA:increased expression:intestine:
mRNA:increased expression:mononulcear cell:
DNA:polymorphism: :1896A>G,11196C>T(human)
RGD PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535 RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tnf tumor necrosis factor no_association ISO associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter
protein:increased expression:serum
DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
RGD PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 More... RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934 RGD:8158077 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chrNW_004955413:3,672,470...3,825,588
Ensembl chrNW_004955413:3,672,470...3,819,571
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 chrNW_004955456:14,554,583...14,558,967 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853
JBrowse link
G Il5 interleukin 5 severity ISO RGD PMID:22772323 RGD:6892720 NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:22772323 RGD:6892720 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chrNW_004955481:4,765,078...4,768,027
Ensembl chrNW_004955481:4,765,193...4,771,019
JBrowse link
cryoglobulinemic vasculitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tslp thymic stromal lymphopoietin ISO associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) RGD PMID:25889007 RGD:38596329 NCBI chrNW_004955418:4,041,529...4,045,534 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 chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:19585364 RGD:7401211 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism:promoter:-174G>C(human)
protein:increased expression:serum:
RGD PMID:22025890 RGD:7829790 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Tnf tumor necrosis factor disease_progression
severity
ISO protein:increased expression:serum:
DNA:SNP, haplotype:promoter
protein:increased expression:vitreous fluid:
RGD PMID:19585364 PMID:20720222 PMID:21139707 PMID:21394064 PMID:21849807 RGD:7364860 RGD:7387275 RGD:7387277 RGD:7394772 RGD:7401211 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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 ClinVar Annotator: match by term: Epithelial basement membrane dystrophy OMIM
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532 NCBI chrNW_004955408:31,093,450...31,124,715
Ensembl chrNW_004955408:31,093,050...31,125,398
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 chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353
JBrowse link
G Cd36 CD36 molecule (CD36 blood group) ISO RGD PMID:21412229 RGD:6893495 NCBI chrNW_004955410:5,003,720...5,120,903
Ensembl chrNW_004955410:5,003,668...5,075,313
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:21411717 RGD:5490596 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
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 chrNW_004955457:11,028,707...11,034,898
Ensembl chrNW_004955457:11,028,698...11,073,460
JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:increased expression:nasal cavity mucosa, blood vessel: RGD PMID:2772560 RGD:8548880 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:11838849 RGD:1580480 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:20156770 RGD:5684985 NCBI chrNW_004955415:30,222,830...30,226,406 JBrowse link
G Vtn vitronectin ISO RGD PMID:12126637 RGD:1580817 NCBI chrNW_004955481:4,765,078...4,768,027
Ensembl chrNW_004955481:4,765,193...4,771,019
JBrowse link
Henoch-Schoenlein purpura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G C3 complement C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1353212 NCBI chrNW_004955495:2,796,601...2,824,233
Ensembl chrNW_004955495:2,796,663...2,824,697
JBrowse link
G Cd86 CD86 molecule treatment ISO protein:increased expression:venous blood, B cell (human) RGD PMID:27030970 RGD:11354986 NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Igf1 insulin like growth factor 1 ISO protein:increased expression:serum RGD PMID:20013271 RGD:10755701 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) RGD PMID:9186886 RGD:6909151 NCBI chrNW_004955470:1,145,022...1,159,413
Ensembl chrNW_004955470:1,144,810...1,159,471
JBrowse link
G Il27 interleukin 27 ISO mRNA,protein:decreased expression:peripheral blood mononuclear cell, blood serum (human)" RGD PMID:33280050 RGD:126790550 NCBI chrNW_004955493:6,712,005...6,717,417
Ensembl chrNW_004955493:6,712,005...6,717,417
JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:16787590 RGD:11354946 NCBI chrNW_004955408:3,937,128...3,951,784
Ensembl chrNW_004955408:3,937,894...3,939,358
JBrowse link
G Kng1 kininogen 1 ISO protein:increased expression:serum RGD PMID:26098644 RGD:11059888 NCBI chrNW_004955420:20,989,197...21,016,084 JBrowse link
G Mefv MEFV innate immunity regulator, pyrin susceptibility ISO DNA:mutations:cds:
DNA:mutation:exon:p. E148Q (human)
DNA:mutations:exons:
RGD PMID:20602240 PMID:22451026 PMID:25232290 RGD:11531116 RGD:7349346 RGD:7349347 NCBI chrNW_004955442:14,068,436...14,093,889
Ensembl chrNW_004955442:14,068,348...14,094,016
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased expression:plasma (human) RGD PMID:9543574 RGD:11541055 NCBI chrNW_004955536:730,962...754,333
Ensembl chrNW_004955536:730,981...756,394
JBrowse link
G Plau plasminogen activator, urokinase ISO CTD Direct Evidence: therapeutic CTD PMID:9002298 PMID:12671112 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:19967651 RGD:11552576 NCBI chrNW_004955432:11,893,473...11,923,035
Ensembl chrNW_004955432:11,893,473...11,923,339
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 chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402
JBrowse link
G Ager advanced glycosylation end-product specific receptor severity ISO RGD PMID:22337222 RGD:8695960 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22446961 NCBI chrNW_004955403:52,825,397...52,874,007
Ensembl chrNW_004955403:52,832,604...52,874,264
JBrowse link
G Btnl2 butyrophilin like 2 susceptibility ISO DNA:SNP: :rs 1555115(human) RGD PMID:19882345 RGD:9685030 NCBI chrNW_004955437:1,084,330...1,101,751
Ensembl chrNW_004955437:1,083,745...1,101,730
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 chrNW_004955420:25,641,184...25,664,413 JBrowse link
G Cd40 CD40 molecule susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)
CTD
RGD
PMID:22446961 PMID:22446962 PMID:22645426 RGD:8547776 NCBI chrNW_004955445:11,191,817...11,202,156
Ensembl chrNW_004955445:11,190,603...11,202,093
JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:12563087 RGD:11352236 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Clu clusterin treatment ISO RGD PMID:23956692 RGD:8975365 NCBI chrNW_004955403:50,160,598...50,175,876
Ensembl chrNW_004955403:50,160,598...50,175,876
JBrowse link
G Eln elastin ISO RGD PMID:21356372 RGD:9585741 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:11839635 RGD:1582494 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:serum RGD PMID:18720262 RGD:8695977 NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
JBrowse link
G Hmox1 heme oxygenase 1 no_association ISO RGD PMID:14521259 RGD:1598409 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:21958311 RGD:5684363 NCBI chrNW_004955408:4,046,406...4,049,795 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:15345916 PMID:18484687 PMID:19288449 RGD:8655874 RGD:8655898 RGD:8655924 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:8777922 PMID:22361326 RGD:6482661 RGD:7401221 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:22367425 RGD:7829825 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084290 NCBI chrNW_004955578:597,105...614,081
Ensembl chrNW_004955578:598,351...614,081
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:polymorphism:cds: RGD PMID:15144709 PMID:24721319 RGD:8693744 RGD:8693748 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:blood RGD PMID:12626459 PMID:18311803 RGD:1580170 RGD:8547899 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:plasma RGD PMID:21410593 RGD:5685654 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Selp selectin P ISO RGD PMID:20079717 RGD:6478695 NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:blood RGD PMID:12626459 RGD:1580170 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Tlr4 toll like receptor 4 ISO mRNA:increased expression:monocyte: RGD PMID:18353240 RGD:7777156 NCBI chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
JBrowse link
G Tnf tumor necrosis factor susceptibility
treatment
ISO DNA:SNP: :-308G>A (human) RGD PMID:8777922 PMID:14703611 PMID:14744383 PMID:18710885 RGD:1580318 RGD:7401183 RGD:7401221 RGD:9495921 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15470196 RGD:1580572 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
Lupus Vasculitis, Central Nervous System term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ina internexin neuronal intermediate filament protein alpha severity ISO RGD PMID:20559547 RGD:40886275 NCBI chrNW_004955485:7,238,723...7,266,995 JBrowse link
G Itgam integrin subunit alpha M ISO CTD Direct Evidence: marker/mechanism CTD PMID:26773105 NCBI chrNW_004955493:8,116,886...8,160,806
Ensembl chrNW_004955493:8,116,834...8,260,759
JBrowse link
G Selp selectin P ISO RGD PMID:20179168 RGD:6478687 NCBI chrNW_004955462:7,658,371...7,692,870
Ensembl chrNW_004955462:7,652,437...7,693,994
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 chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:blood, T cell RGD PMID:19327232 RGD:9491765 NCBI chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
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 chrNW_004955413:33,460,975...33,469,935
Ensembl chrNW_004955413:33,465,982...33,466,953
JBrowse link
polyarteritis nodosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Polyarteritis nodosa ClinVar PMID:25741868 NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO protein:increased expression:serum RGD PMID:23470165 RGD:9068463 NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
JBrowse link
G Eln elastin ISO RGD PMID:12643515 RGD:9585739 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:15965421 RGD:8655581 NCBI chrNW_004955428:17,840,554...17,894,779
Ensembl chrNW_004955428:17,840,628...17,894,773
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004955431:20,859,152...21,070,886
Ensembl chrNW_004955431:20,866,685...21,070,853
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15965421 RGD:8655581 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
Polyarteritis Nodosa, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME OMIM
ClinVar
PMID:9536098 PMID:12804991 PMID:16199547 PMID:17576681 PMID:22929023 More... NCBI chrNW_004955454:5,341,822...5,355,383 JBrowse link
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 chrNW_004955442:18,109,421...18,149,969
Ensembl chrNW_004955442:18,109,439...18,127,971
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 chrNW_004955454:5,669,883...5,688,623
Ensembl chrNW_004955454:5,666,921...5,688,645
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 chrNW_004955454:5,692,027...5,770,897
Ensembl chrNW_004955454:5,715,991...5,769,443
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 chrNW_004955454:5,776,656...5,785,500
Ensembl chrNW_004955454:5,777,667...5,783,118
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 chrNW_004955442:18,513,398...18,548,317
Ensembl chrNW_004955442:18,514,731...18,547,805
JBrowse link
G Cecr2 cat eye syndrome chromosome region, candidate 2 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 chrNW_004955454:5,581,985...5,643,685
Ensembl chrNW_004955454:5,581,981...5,640,712
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 chrNW_004955442:18,509,501...18,511,267
Ensembl chrNW_004955442:18,509,676...18,510,332
JBrowse link
G Cltcl1 clathrin heavy chain like 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 chrNW_004955442:18,688,019...18,803,458
Ensembl chrNW_004955442:18,687,746...18,804,104
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 chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
JBrowse link
G CUNH22orf39 chromosome unknown C22orf39 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 chrNW_004955442:18,570,867...18,575,809
Ensembl chrNW_004955442:18,570,867...18,576,076
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 chrNW_004955442:18,857,222...18,938,552
Ensembl chrNW_004955442:18,857,222...18,938,680
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 chrNW_004955442:18,829,037...18,840,542
Ensembl chrNW_004955442:18,828,976...18,840,542
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 chrNW_004955442:18,224,081...18,281,558 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 chrNW_004955442:18,359,664...18,360,979
Ensembl chrNW_004955442:18,359,664...18,360,979
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 chrNW_004955442:18,824,187...18,825,760
Ensembl chrNW_004955442:18,823,495...18,825,760
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 chrNW_004955454:5,284,936...5,294,969
Ensembl chrNW_004955454:5,285,365...5,301,045
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 chrNW_004955454:5,230,384...5,252,769
Ensembl chrNW_004955454:5,230,522...5,254,394
JBrowse link
G LOC102009660 protein HIRA 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 chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761
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 chrNW_004955454:5,820,291...5,983,262
Ensembl chrNW_004955454:5,820,299...5,983,101
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 chrNW_004955442:18,578,107...18,580,517
Ensembl chrNW_004955442:18,577,952...18,580,517
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 chrNW_004955454:6,097,251...6,115,430 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 chrNW_004955442:18,804,319...18,807,353
Ensembl chrNW_004955442:18,804,319...18,808,900
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 chrNW_004955454:5,648,255...5,668,754
Ensembl chrNW_004955454:5,648,255...5,668,754
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 chrNW_004955442:18,036,477...18,074,036
Ensembl chrNW_004955442:18,036,477...18,074,213
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 chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337
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 chrNW_004955454:5,260,179...5,268,675 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 chrNW_004955442:18,846,491...18,847,485 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 chrNW_004955454:6,129,821...6,148,645
Ensembl chrNW_004955454:6,129,612...6,148,645
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 chrNW_004955442:18,150,060...18,205,775
Ensembl chrNW_004955442:18,152,152...18,204,327
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 chrNW_004955442:18,548,545...18,568,989
Ensembl chrNW_004955442:18,548,545...18,569,366
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 chrNW_004955454:6,171,575...6,200,879
Ensembl chrNW_004955454:6,171,569...6,203,091
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 chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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 chrNW_004955427:24,691,206...24,705,599
Ensembl chrNW_004955427:24,701,073...24,707,230
JBrowse link
G Il6 interleukin 6 ISO RGD PMID:19834028 RGD:11039401 NCBI chrNW_004955410:25,079,835...25,084,390 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 chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:1381315 RGD:11060272 NCBI chrNW_004955410:25,079,835...25,084,390 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 chrNW_004955454:15,025,967...15,111,142
Ensembl chrNW_004955454:15,035,979...15,111,142
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 chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23146691 NCBI chrNW_004955431:15,373,207...15,377,339
Ensembl chrNW_004955431:15,373,207...15,377,339
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 chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Il2 interleukin 2 disease_progression
susceptibility
ISO DNA:polymorphism::-300G>T(human) RGD PMID:2574087 PMID:17002904 RGD:8663467 RGD:8693331 NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
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:23830516 PMID:30354298 RGD:401794441 RGD:401824641 NCBI chrNW_004955451:16,460,737...16,464,529
Ensembl chrNW_004955451:16,459,879...16,464,529
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:23100088 RGD:8693315 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chrNW_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961
JBrowse link
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chrNW_004955444:12,989,210...12,991,300 JBrowse link
G Csf2 colony stimulating factor 2 ISO RGD PMID:9844760 RGD:11059502 NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chrNW_004955411:3,478,943...3,486,541
Ensembl chrNW_004955411:3,478,033...3,486,604
JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Il17a interleukin 17A susceptibility
severity
ISO DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
mRNA, protein:increased expression:temporal artery (human)
RGD PMID:22993227 PMID:24919468 RGD:8698666 RGD:9068454 NCBI chrNW_004955411:5,896,435...5,899,911
Ensembl chrNW_004955411:5,896,702...5,900,962
JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
RGD PMID:20331879 RGD:8655865 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chrNW_004955493:5,613,704...5,646,692
Ensembl chrNW_004955493:5,613,564...5,650,583
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chrNW_004955408:4,058,052...4,065,999 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chrNW_004955416:16,092,263...16,103,097
Ensembl chrNW_004955416:16,091,684...16,103,768
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO protein:increased expression:serum
protein:increased expression:temporal artery (human)
DNA:SNP:CDS:rs2250889 (human)
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
protein:increased activity:temporal artery
RGD PMID:8843867 PMID:15998676 PMID:17502363 PMID:18512818 RGD:1580575 RGD:8547826 RGD:8547902 RGD:8657040 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:polymorphism: :1858C>T (human)
DNA:polymorphism: :p.R620W (rs2476601) (human)
RGD PMID:16078327 PMID:23946333 RGD:7829739 RGD:7829744 NCBI chrNW_004955435:17,082,762...17,139,067 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 chrNW_004955419:10,190,937...10,201,896
Ensembl chrNW_004955419:10,191,120...10,202,135
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 RGD:7207785 NCBI chrNW_004955437:645,482...648,607
Ensembl chrNW_004955437:645,897...648,479
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO mRNA:increased expression:femoral artery (rat) RGD PMID:19572944 RGD:5508315 NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825
JBrowse link
G Eln elastin ISO protein:increased expression:blood: RGD PMID:8763587 RGD:9585753 NCBI chrNW_004955456:13,788,992...13,818,836 JBrowse link
G Ucn urocortin ISO mRNA:increased expression:femoral artery (rat) RGD PMID:19572944 RGD:5508315 NCBI chrNW_004955469:9,277,637...9,278,641
Ensembl chrNW_004955469:9,277,637...9,278,641
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 chrNW_004955435:5,390,745...5,410,025
Ensembl chrNW_004955435:5,390,751...5,411,691
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      cardiovascular system disease 4073
        vascular disease 2851
          vasculitis 164
            Arteritis + 61
            Autoinflammation with Pulmonary and Cutaneous Vasculitis 1
            Behcet's disease 66
            Cogan syndrome + 1
            Cutaneous Small Vessel Lymphocytic Vasculitis 0
            Granulomatous Vasculitis 0
            Kawasaki disease 25
            Malignant Atrophic Papulosis 0
            Nodular Lymphocytic Vasculitis 0
            Shwartzman phenomenon 2
            Systemic Autoinflammatory Disease with Vasculitis 1
            Systemic Vasculitis + 64
            Vasculitis of the Skin 0
            aortitis 1
            central nervous system vasculitis + 20
            cryoglobulinemic vasculitis 1
            granulomatous angiitis 0
            hypersensitivity vasculitis + 14
            livedoid vasculitis 0
            phlebitis + 1
            retinal vasculitis + 6
            thromboangiitis obliterans 5
paths to the root