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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:autoimmune disease of cardiovascular system
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Accession:DOID:0060051 term browser browse the term
Definition:An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (DO)
Synonyms:exact_synonym: autoimmune disorder of cardiovascular system
 xref: MONDO:0000603



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antiphospholipid syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoh apolipoprotein H ISO RGD PMID:24642748 RGD:10054118 NCBI chr11:108,286,123...108,305,222
Ensembl chr11:108,234,180...108,305,222
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
JBrowse link
G Cd4 CD4 antigen treatment IMP RGD PMID:7914411 RGD:10058961 NCBI chr 6:124,841,656...124,865,210
Ensembl chr 6:124,841,655...124,865,184
JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:16188945 RGD:11344980 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO RGD PMID:17014014 RGD:6907402 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO DNA:polymorphism (human) RGD PMID:11157139 RGD:5147862 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms: :multiple (human) RGD PMID:11157139 RGD:5147862 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:11157139 RGD:5147862 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Pf4 platelet factor 4 ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242
JBrowse link
G Plat plasminogen activator, tissue ISO RGD PMID:16320350 RGD:1580877 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182703 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Ppbp pro-platelet basic protein ISO protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr 5:90,916,377...90,917,922
Ensembl chr 5:90,916,377...90,917,922
JBrowse link
G Proc protein C ISO RGD PMID:25196808 RGD:11099994 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623
JBrowse link
autoimmune myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha exacerbates IMP associated with Coxsackievirus Infections RGD PMID:10364312 RGD:127285795 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G Ifnb1 interferon beta 1, fibroblast ameliorates IDA RGD PMID:15061762 RGD:401851923 NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
JBrowse link
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928 PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Ahr aryl-hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037
JBrowse link
G Apoa1 apolipoprotein A-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764
JBrowse link
G Apob apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835
JBrowse link
G Cat catalase ISO protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:19782713 PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD PMID:15501397 PMID:15009175 PMID:17067435 RGD:4892106, RGD:8551827, RGD:8551814 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402
JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
JBrowse link
G Cfb complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494
JBrowse link
G Cpb2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-DMa histocompatibility 2, class II, locus DMa no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,338,667...34,358,075
Ensembl chr17:34,338,515...34,358,075
JBrowse link
G H2-DMb1 histocompatibility 2, class II, locus Mb1 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,372,165...34,379,203
Ensembl chr17:34,372,046...34,379,204
JBrowse link
G H2-DMb2 histocompatibility 2, class II, locus Mb2 no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr17:34,362,203...34,370,527
Ensembl chr17:34,362,281...34,370,529
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*15 (human)
CTD
RGD
PMID:12622781 PMID:20622878 PMID:23396137 RGD:7364918 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G H2-M5 histocompatibility 2, M region locus 5 ISO DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) RGD PMID:11426025 RGD:7364939 NCBI chr17:37,294,677...37,308,847
Ensembl chr17:37,294,953...37,300,429
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 no_association
disease_progression
ISO DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human)
RGD PMID:16101830 PMID:11426025 PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
JBrowse link
G Icam1 intercellular adhesion molecule 1 susceptibility
no_association
ISO DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.R241G (human)
CTD
RGD
PMID:8712863 PMID:12074830 PMID:12808331 PMID:11409120 PMID:10792421 RGD:8158115, RGD:8547575, RGD:8158123 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Ifng interferon gamma ISO associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:21334264 PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460
JBrowse link
G Il10 interleukin 10 disease_progression
onset
susceptibility
treatment
ISO
IDA
DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 More... RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il18 interleukin 18 susceptibility
no_association
ISO
IMP
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD PMID:14727452 PMID:15234532 PMID:21532063 PMID:16273766 PMID:17055358 RGD:4889844, RGD:8655927, RGD:8655926, RGD:8655910, RGD:8655897 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il18r1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 1:40,504,712...40,540,014
Ensembl chr 1:40,504,712...40,540,014
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:22483685 PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Il6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Irf8 interferon regulatory factor 8 susceptibility ISO DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)
protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)
DNA:Hypermethylation
RGD PMID:26794091 PMID:28592884 PMID:28881647 RGD:329902077, RGD:329955373, RGD:329902079 NCBI chr 8:121,463,097...121,483,433
Ensembl chr 8:121,463,097...121,483,433
JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636
JBrowse link
G Itgal integrin alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 7:126,895,404...126,934,309
Ensembl chr 7:126,895,432...126,934,310
JBrowse link
G Itgam integrin alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr 7:127,661,812...127,717,663
Ensembl chr 7:127,661,812...127,717,663
JBrowse link
G Itgb2 integrin beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility
severity
ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15730518 PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association
ISO DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet disease
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar
RGD
PMID:28492532 PMID:19748964 PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell susceptibility
no_association
ISO DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD PMID:11908569 PMID:21957880 PMID:15705632 PMID:16463158 RGD:7771576, RGD:7775050, RGD:7775048, RGD:7771577 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO RGD PMID:14507116 RGD:1580692 NCBI chr 8:13,110,583...13,126,026
Ensembl chr 8:13,110,914...13,126,026
JBrowse link
G Pstpip1 proline-serine-threonine phosphatase-interacting protein 1 ISO ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:55,985,729...56,036,174
Ensembl chr 9:55,997,246...56,036,172
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Slc11a1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 1:74,414,318...74,429,974
Ensembl chr 1:74,414,354...74,425,221
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606 PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD
RGD
PMID:23291587 PMID:20438790 PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
JBrowse link
G Tlr2 toll-like receptor 2 no_association
susceptibility
ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID:23908180 PMID:18336589 PMID:19796535 PMID:24255044 RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
JBrowse link
G Tlr3 toll-like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
JBrowse link
G Tlr4 toll-like receptor 4 no_association
susceptibility
ISO mRNA:increased expression:mononulcear cell:
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
DNA:SNP:3'UTR: rs7037117(human)
RGD PMID:18234118 PMID:18336589 PMID:19796535 PMID:18408113 RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tnf tumor necrosis factor no_association ISO DNA:SNP:promoter:-308G>A (human)
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
associated with Uveitis;protein:increased expression:aqueous humor:
protein:increased expression:serum
RGD PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 More... RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease
ClinVar
RGD
PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787 RGD:7401213 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor no_association ISO DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
G Vim vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637
JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642
JBrowse link
Experimental Autoimmune Myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing IMP RGD PMID:23674516 RGD:8695925 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:heart RGD PMID:24599045 RGD:8696002 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G Casp3 caspase 3 treatment ISO
IEP
RGD PMID:28903333 PMID:23833961 RGD:13702869, RGD:13702874 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:23833961 RGD:13702874 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:23833961 RGD:13702874 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:17060028 RGD:1625364 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
JBrowse link
G Cav2 caveolin 2 ISO RGD PMID:17060028 RGD:1625364 NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO mRNA, protein:increased expression:heart, serum (rat) RGD PMID:11472393 RGD:8549580 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Cd28 CD28 antigen treatment
severity
ISO
IMP
RGD PMID:19907173 PMID:8759765 RGD:13702882, RGD:13702883 NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
JBrowse link
G Cd40 CD40 antigen treatment ISO RGD PMID:25297507 RGD:13702884 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Fgl2 fibrinogen-like protein 2 severity ISO RGD PMID:28892130 RGD:38549573 NCBI chr 5:21,577,671...21,583,384
Ensembl chr 5:21,577,640...21,583,372
JBrowse link
G Foxp3 forkhead box P3 severity
treatment
ISO RGD PMID:28892130 PMID:19907173 RGD:38549573, RGD:13702882 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 treatment ISO RGD PMID:30024944 RGD:13792695 NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:heart RGD PMID:19615879 RGD:11041636 NCBI chr 7:30,641,793...30,643,454
Ensembl chr 7:30,641,793...30,643,457
JBrowse link
G Hmgb1 high mobility group box 1 ISO protein:increased expression:heart, serum RGD PMID:24599045 RGD:8696002 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
JBrowse link
G Hspa5 heat shock protein 5 treatment ISO RGD PMID:21927577 RGD:5685668 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:11701617 RGD:13702911 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:19907173 RGD:13702882 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il13 interleukin 13 treatment ISO RGD PMID:15902684 RGD:8549607 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment IMP mouse gene in a rat model RGD PMID:15795329 RGD:8551728 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:26339812 RGD:11062109 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Kcna5 potassium voltage-gated channel, shaker-related subfamily, member 5 ISO RGD PMID:15306225 RGD:7242784 NCBI chr 6:126,509,514...126,512,518
Ensembl chr 6:126,509,514...126,512,375
JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha IDA RGD PMID:10199887 RGD:12792956 NCBI chr14:55,179,378...55,205,553
Ensembl chr14:55,179,378...55,204,384
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO protein:increased expression:myocardium (rat) RGD PMID:15167281 RGD:8553039 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Reg3b regenerating islet-derived 3 beta ISO mRNA:increased expression:heart, cardiomyocyte (rat) RGD PMID:18774541 RGD:9831381 NCBI chr 6:78,347,868...78,350,449
Ensembl chr 6:78,347,640...78,350,449
JBrowse link
G Rorc RAR-related orphan receptor gamma severity ISO RGD PMID:28892130 RGD:38549573 NCBI chr 3:94,280,106...94,305,583
Ensembl chr 3:94,280,101...94,305,583
JBrowse link
G Rps6 ribosomal protein S6 ISO RGD PMID:22014063 RGD:11041642 NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649
JBrowse link
G Sirt1 sirtuin 1 treatment ISO RGD PMID:17322642 RGD:9586020 NCBI chr10:63,154,784...63,174,814
Ensembl chr10:63,154,784...63,217,483
JBrowse link
STING-associated vasculopathy with onset in infancy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,731,668...34,757,916
Ensembl chr18:34,731,668...34,757,654
JBrowse link
G Cdc23 CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,761,401...34,784,802
Ensembl chr18:34,764,004...34,784,788
JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,866,046...34,884,644
Ensembl chr18:34,866,046...34,884,586
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832
JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,804,156...35,841,467
Ensembl chr18:35,804,156...35,841,467
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,846,139...35,855,460
Ensembl chr18:35,846,139...35,855,409
JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,035,838...35,065,060
Ensembl chr18:35,035,838...35,065,060
JBrowse link
G Fam13b family with sequence similarity 13, member B ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,573,624...34,656,096
Ensembl chr18:34,575,404...34,639,884
JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,891,885...34,906,813
Ensembl chr18:34,891,959...34,906,813
JBrowse link
G Gfra3 glial cell line derived neurotrophic factor family receptor alpha 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,822,951...34,853,440
Ensembl chr18:34,822,951...34,853,440
JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr13:58,273,693...58,276,370
Ensembl chr13:58,273,693...58,276,370
JBrowse link
G Hspa9 heat shock protein 9 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,070,467...35,087,404
Ensembl chr18:35,070,467...35,087,410
JBrowse link
G Kdm3b KDM3B lysine (K)-specific demethylase 3B ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,910,061...34,972,423
Ensembl chr18:34,910,100...34,971,713
JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,757,677...34,766,330
Ensembl chr18:34,757,666...34,766,330
JBrowse link
G Klhl3 kelch-like 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr13:58,148,040...58,271,288
Ensembl chr13:58,148,042...58,261,406
JBrowse link
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,342,056...35,348,077
Ensembl chr18:35,342,056...35,348,077
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,686,462...35,724,526
Ensembl chr18:35,695,191...35,726,888
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:44,467,126...44,488,795
Ensembl chr18:44,467,141...44,488,791
JBrowse link
G Mzb1 marginal zone B and B1 cell-specific protein 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,780,318...35,782,420
Ensembl chr18:35,780,320...35,782,420
JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,695,687...34,712,168
Ensembl chr18:34,695,687...34,712,168
JBrowse link
G Paip2 polyadenylate-binding protein-interacting protein 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,731,649...35,750,239
Ensembl chr18:35,731,670...35,750,240
JBrowse link
G Pkd2l2 polycystic kidney disease 2-like 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,541,553...34,575,842
Ensembl chr18:34,541,542...34,577,169
JBrowse link
G Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,783,400...35,788,274
Ensembl chr18:35,783,404...35,788,291
JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,973,642...34,980,516
Ensembl chr18:34,973,642...34,980,516
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,399,449...35,632,443
Ensembl chr18:35,399,449...35,632,833
JBrowse link
G Slc23a1 solute carrier family 23 (nucleobase transporters), member 1 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,747,657...35,762,900
Ensembl chr18:35,747,657...35,760,297
JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:35,789,742...35,795,239
Ensembl chr18:35,789,742...35,795,239
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy
OMIM:615934
OMIM
CTD
ClinVar
MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25029335 More... NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607
JBrowse link
G Wnt8a wingless-type MMTV integration site family, member 8A ISO ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr18:34,675,380...34,681,114
Ensembl chr18:34,675,366...34,681,326
JBrowse link
temporal arteritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:15742444 RGD:1581162 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
JBrowse link
G Crh corticotropin releasing hormone no_association ISO DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO RGD PMID:9844760 RGD:11059502 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr17:15,587,616...15,597,275
Ensembl chr17:15,587,616...15,597,134
JBrowse link
G Eln elastin ISO RGD PMID:9101501 RGD:9585754 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV ISO DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta onset ISO associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:20064872 PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Ifng interferon gamma severity ISO DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Il17a interleukin 17A severity
susceptibility
ISO mRNA, protein:increased expression:temporal artery (human)
DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD PMID:22993227 PMID:24919468 RGD:8698666, RGD:9068454 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il18 interleukin 18 no_association ISO DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)
DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD PMID:20331879 PMID:20331879 RGD:8655865, RGD:8655865 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il21r interleukin 21 receptor ISO RGD PMID:22147555 RGD:6892962 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
JBrowse link
G Il4 interleukin 4 ISO DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Jag1 jagged 1 ISO mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Mfge8 milk fat globule EGF and factor V/VIII domain containing ISO RGD PMID:11748647 RGD:1582497 NCBI chr 7:78,783,516...78,798,808
Ensembl chr 7:78,783,516...78,798,808
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO protein:increased expression:temporal artery (human)
protein:increased activity:temporal artery
DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human)
DNA:SNP:CDS:rs2250889 (human)
protein:increased expression:serum
RGD PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867 RGD:1580575, RGD:8657040, RGD:8547902, RGD:8547902, RGD:8547826 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) no_association ISO DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)
RGD PMID:23946333 PMID:16078327 RGD:7829739, RGD:7829744 NCBI chr 3:103,763,891...103,819,568
Ensembl chr 3:103,767,111...103,819,563
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility
no_association
ISO DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)
RGD PMID:19531762 PMID:21586524 RGD:7777158, RGD:7777159 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18295
    disease of anatomical entity 15588
      cardiovascular system disease 4547
        autoimmune disease of cardiovascular system 147
          Behcet's disease 79
          Libman-Sacks endocarditis 0
          STING-associated vasculopathy with onset in infancy 30
          antiphospholipid syndrome + 13
          autoimmune atherosclerosis 0
          autoimmune cardiomyopathy 0
          autoimmune myocarditis + 30
          autoimmune vasculitis 0
          rheumatic pulmonary valve disease 0
          temporal arteritis 21
Path 2
Term Annotations click to browse term
  disease 18295
    disease of anatomical entity 15588
      Immune & Inflammatory Diseases 5160
        immune system disease 4456
          primary immunodeficiency disease 3848
            autoimmune disease 2059
              autoimmune disease of cardiovascular system 147
                Behcet's disease 79
                Libman-Sacks endocarditis 0
                STING-associated vasculopathy with onset in infancy 30
                antiphospholipid syndrome + 13
                autoimmune atherosclerosis 0
                autoimmune cardiomyopathy 0
                autoimmune myocarditis + 30
                autoimmune vasculitis 0
                rheumatic pulmonary valve disease 0
                temporal arteritis 21
paths to the root