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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 TAS
IDA
RGD PMID:15507263 PMID:24642748 RGD:1578489, RGD:10054118 NCBI chr17:66,212,033...66,229,415
Ensembl chr17:66,212,033...66,256,525
JBrowse link
G CCL5 C-C motif chemokine ligand 5 IEP protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
JBrowse link
G CD4 CD4 molecule treatment ISO RGD PMID:7914411 RGD:10058961 NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
JBrowse link
G CD40LG CD40 ligand IDA RGD PMID:16188945 RGD:11344980 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CRP C-reactive protein IDA RGD PMID:17014014 RGD:6907402 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP DNA:polymorphisms (human) RGD PMID:11157139 RGD:5147862 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms: :multiple (human) RGD PMID:11157139 RGD:5147862 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphisms (human) RGD PMID:11157139 RGD:5147862 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G PF4 platelet factor 4 IEP protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
JBrowse link
G PF4V1 platelet factor 4 variant 1 severity IEP RGD PMID:26283469 RGD:401794584 NCBI chr 4:73,853,296...73,854,483
Ensembl chr 4:73,853,296...73,854,483
JBrowse link
G PLAT plasminogen activator, tissue type IDA RGD PMID:16320350 RGD:1580877 NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:28182703 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPBP pro-platelet basic protein IEP protein:increased expression:plasma RGD PMID:26283469 RGD:401794584 NCBI chr 4:73,986,439...73,988,190
Ensembl chr 4:73,986,439...73,988,190
JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IDA RGD PMID:25196808 RGD:11099994 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
autoimmune myocarditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 exacerbates ISO associated with Coxsackievirus Infections RGD PMID:10364312 RGD:127285795 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G IFNB1 interferon beta 1 ameliorates ISO RGD PMID:15061762 RGD:401851923 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
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 IAGP DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G ACE angiotensin I converting enzyme susceptibility
no_association
IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928 PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADA2 adenosine deaminase 2 IAGP ClinVar Annotator: match by term: Behcet disease
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar PMID:25741868 PMID:27884168 PMID:28492532 PMID:28814775 PMID:29681619 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
JBrowse link
G APOA1 apolipoprotein A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOB apolipoprotein B EXP CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G CAT catalase IEP
EXP
protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
IEP
DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)
RGD PMID:19782713 PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CCR1 C-C motif chemokine receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association IEP
IAGP
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 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CDK6 cyclin dependent kinase 6 IAGP ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
JBrowse link
G CFB complement factor B IEP RGD PMID:6900632 RGD:7411737 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CPB2 carboxypeptidase B2 IEP RGD PMID:15668188 RGD:1598474 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G EDN1 endothelin 1 IEP protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G F5 coagulation factor V no_association IAGP DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FAS Fas cell surface death receptor severity IEP protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IAGP DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G HLA-B major histocompatibility complex, class I, B disease_progression IAGP
EXP
DNA:polymorphism:cds:HLA-B*51 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B*51 (human, Turkish)
DNA:polymorphism:cds:HLA-B*15 (human)
CTD
RGD
PMID:20622878 PMID:23396137 PMID:16101830 PMID:11426025 PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DMA major histocompatibility complex, class II, DM alpha no_association IAGP RGD PMID:10375868 RGD:1582700 NCBI chr 6:32,948,618...32,953,097
Ensembl chr 6:32,948,613...32,969,094
JBrowse link
G HLA-DMB major histocompatibility complex, class II, DM beta no_association IAGP RGD PMID:10375868 RGD:1582700 NCBI chr 6:32,934,636...32,941,028
Ensembl chr 6:32,934,629...32,941,028
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G HMOX1 heme oxygenase 1 IEP mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility
no_association
IAGP
EXP
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 chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IFNG interferon gamma IEP associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:
RGD PMID:21334264 PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IL10 interleukin 10 disease_progression
onset
susceptibility
treatment
IEP
IAGP
EXP
ISO
DNA, protein:hypermethylation, decreased expression:promoter, serum
DNA:SNP:promoter:-592A>C (rs1800872) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 More... RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL17A interleukin 17A IEP protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 susceptibility
no_association
IEP
ISO
IAGP
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 chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL18R1 interleukin 18 receptor 1 IAGP ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777
JBrowse link
G IL1B interleukin 1 beta IEP protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL2 interleukin 2 IAGP DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21R interleukin 21 receptor IMP RGD PMID:21724243 RGD:6892926 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL23R interleukin 23 receptor susceptibility IAGP DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD PMID:22483685 PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL4 interleukin 4 IAGP DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRF8 interferon regulatory factor 8 susceptibility IAGP
IEP
IDA
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 chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606
JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility IAGP RGD PMID:12412731 RGD:1582300 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779
JBrowse link
G ITGAL integrin subunit alpha L EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr16:30,472,742...30,523,185
Ensembl chr16:30,472,658...30,523,567
JBrowse link
G ITGAM integrin subunit alpha M IEP protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
JBrowse link
G ITGB2 integrin subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
JBrowse link
G KLRC4 killer cell lectin like receptor C4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
severity
IAGP
IEP
DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)
RGD PMID:15730518 PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Behcet's syndrome
ClinVar Annotator: match by term: Behcet disease
ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MMP2 matrix metallopeptidase 2 IEP RGD PMID:17949555 RGD:8657044 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association
IAGP DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar Annotator: match by term: Behcet's syndrome
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar
RGD
PMID:28492532 PMID:19748964 PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association
IAGP 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 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PROZ protein Z, vitamin K dependent plasma glycoprotein IDA RGD PMID:14507116 RGD:1580692 NCBI chr13:113,158,648...113,172,386
Ensembl chr13:113,158,648...113,172,386
JBrowse link
G PSORS1C1 psoriasis susceptibility 1 candidate 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23396137 NCBI chr 6:31,114,800...31,140,092
Ensembl chr 6:31,114,750...31,140,092
JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G SERPINE1 serpin family E member 1 IEP
EXP
protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
JBrowse link
G SOD1 superoxide dismutase 1 IEP protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association IAGP DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606 PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP
EXP
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 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 no_association
susceptibility
IEP
IAGP
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 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR3 toll like receptor 3 IEP protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G TLR4 toll like receptor 4 no_association
susceptibility
IEP
IAGP
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 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNF tumor necrosis factor no_association IMP
IAGP
IEP
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 chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP
IAGP
protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
RGD
PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787 RGD:7401213 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G VDR vitamin D receptor no_association IAGP DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)
RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VIM vimentin IDA RGD PMID:3780056 RGD:6480476 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
JBrowse link
G VWF von Willebrand factor IDA RGD PMID:15849757 RGD:1580642 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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 ISO RGD PMID:23674516 RGD:8695925 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO protein:increased expression:heart RGD PMID:24599045 RGD:8696002 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:28903333 PMID:23833961 RGD:13702869, RGD:13702874 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:23833961 RGD:13702874 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:23833961 RGD:13702874 NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:17060028 RGD:1625364 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CAV2 caveolin 2 ISO RGD PMID:17060028 RGD:1625364 NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541
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 chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD28 CD28 molecule treatment
severity
ISO RGD PMID:19907173 PMID:8759765 RGD:13702882, RGD:13702883 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:25297507 RGD:13702884 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G FGL2 fibrinogen like 2 severity ISO RGD PMID:28892130 RGD:38549573 NCBI chr 7:77,193,369...77,199,819
Ensembl chr 7:77,193,369...77,199,848
JBrowse link
G FOXP3 forkhead box P3 severity
treatment
ISO RGD PMID:28892130 PMID:19907173 RGD:38549573, RGD:13702882 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 treatment ISO RGD PMID:30024944 RGD:13792695 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
JBrowse link
G HAMP hepcidin antimicrobial peptide ISO mRNA:increased expression:heart RGD PMID:19615879 RGD:11041636 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
JBrowse link
G HMGB1 high mobility group box 1 ISO protein:increased expression:heart, serum RGD PMID:24599045 RGD:8696002 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 treatment ISO RGD PMID:21927577 RGD:5685668 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO RGD PMID:11701617 RGD:13702911 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:19907173 RGD:13702882 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL13 interleukin 13 treatment ISO RGD PMID:15902684 RGD:8549607 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO mouse gene in a rat model RGD PMID:15795329 RGD:8551728 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL6 interleukin 6 treatment ISO RGD PMID:26339812 RGD:11062109 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KCNA5 potassium voltage-gated channel subfamily A member 5 ISO RGD PMID:15306225 RGD:7242784 NCBI chr12:5,043,879...5,046,788
Ensembl chr12:5,043,879...5,046,788
JBrowse link
G MYH6 myosin heavy chain 6 IDA RGD PMID:10199887 RGD:12792956 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO protein:increased expression:myocardium (rat) RGD PMID:15167281 RGD:8553039 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G REG3A regenerating family member 3 alpha ISO mRNA:increased expression:heart, cardiomyocyte (rat) RGD PMID:18774541 RGD:9831381 NCBI chr 2:79,157,006...79,159,753
Ensembl chr 2:79,157,003...79,159,753
JBrowse link
G RORC RAR related orphan receptor C severity ISO RGD PMID:28892130 RGD:38549573 NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845
JBrowse link
G RPS6 ribosomal protein S6 ISO RGD PMID:22014063 RGD:11041642 NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236
JBrowse link
G SIRT1 sirtuin 1 treatment ISO RGD PMID:17322642 RGD:9586020 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,139,770...138,178,630
Ensembl chr 5:138,139,770...138,178,953
JBrowse link
G CDC23 cell division cycle 23 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,187,650...138,213,323
Ensembl chr 5:138,187,650...138,213,343
JBrowse link
G CDC25C cell division cycle 25C IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
JBrowse link
G CTNNA1 catenin alpha 1 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,410,203...139,439,525
Ensembl chr 5:139,408,588...139,444,491
JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,448,560...139,462,743
Ensembl chr 5:139,448,560...139,462,743
JBrowse link
G EGR1 early growth response 1 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G ETF1 eukaryotic translation termination factor 1 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,506,095...138,543,236
Ensembl chr 5:138,506,095...138,543,236
JBrowse link
G FAM13B family with sequence similarity 13 member B IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:137,937,960...138,052,178
Ensembl chr 5:137,937,960...138,051,961
JBrowse link
G FAM53C family with sequence similarity 53 member C IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,337,557...138,349,729
Ensembl chr 5:138,331,935...138,349,729
JBrowse link
G GFRA3 GDNF family receptor alpha 3 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,252,380...138,274,621
Ensembl chr 5:138,252,380...138,274,621
JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:137,745,651...137,754,363
Ensembl chr 5:137,745,651...137,754,363
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G KDM3B lysine demethylase 3B IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
JBrowse link
G KIF20A kinesin family member 20A IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723
JBrowse link
G KLHL3 kelch like family member 3 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089
JBrowse link
G LOC123522803 Sharpr-MPRA regulatory region 11914 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:139,481,024...139,481,318 JBrowse link
G LRRTM2 leucine rich repeat transmembrane neuronal 2 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,868,921...138,875,335
Ensembl chr 5:138,868,921...138,875,368
JBrowse link
G MATR3 matrin 3 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671
JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G MZB1 marginal zone B and B1 cell specific protein IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,387,467...139,389,913
Ensembl chr 5:139,387,467...139,390,081
JBrowse link
G NME5 NME/NM23 family member 5 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,341,854...139,369,717
Ensembl chr 5:139,341,587...139,369,720
JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:137,889,457...137,942,747
Ensembl chr 5:137,887,968...137,942,747
JBrowse link
G PROB1 proline rich basic protein 1 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,390,592...139,395,104
Ensembl chr 5:139,390,592...139,395,104
JBrowse link
G REEP2 receptor accessory protein 2 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SLC23A1 solute carrier family 23 member 1 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,367,196...139,385,676
Ensembl chr 5:139,367,196...139,384,553
JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,274,101...139,284,900
Ensembl chr 5:139,274,102...139,284,899
JBrowse link
G SPATA24 spermatogenesis associated 24 IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:139,392,500...139,404,089
Ensembl chr 5:139,396,563...139,404,089
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP
ISS
EXP
ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset
ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy
OMIM:615934
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25029335 More... NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G WNT8A Wnt family member 8A IAGP ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy ClinVar PMID:28492532 NCBI chr 5:138,077,367...138,092,365
Ensembl chr 5:138,083,990...138,092,365
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 IAGP RGD PMID:15742444 RGD:1581162 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:10616010 RGD:5024918 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CRH corticotropin releasing hormone no_association IAGP DNA:polymorphism:promoter RGD PMID:12051390 RGD:1581301 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G CRP C-reactive protein IEP protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CSF2 colony stimulating factor 2 IEP RGD PMID:9844760 RGD:11059502 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IEP mRNA:increased expression:temporal artery RGD PMID:21220737 RGD:6482238 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G ELN elastin IDA RGD PMID:9101501 RGD:9585754 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP DNA:polymorphism: :p.H131R (human) RGD PMID:16846526 RGD:5147974 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FCGR3A Fc gamma receptor IIIa IAGP DNA:polymorphism (human) RGD PMID:16846526 RGD:5147974 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 onset IAGP associated with Polymyalgia Rheumatica;DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:20064872 PMID:16846526 RGD:5147583, RGD:5147974 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IFNG interferon gamma severity IAGP DNA:repeats:intron: RGD PMID:15675129 RGD:8157621 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL17A interleukin 17A severity
susceptibility
IEP
IAGP
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 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL18 interleukin 18 no_association IAGP 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 chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL21R interleukin 21 receptor IDA RGD PMID:22147555 RGD:6892962 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G IL4 interleukin 4 IAGP DNA:SNP, haplotype: :rs2227284 (human) RGD PMID:15570643 RGD:7829811 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G JAG1 jagged canonical Notch ligand 1 IEP mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear RGD PMID:21220737 RGD:6482238 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G MBL2 mannose binding lectin 2 IAGP DNA:polymorphism:cds: RGD PMID:12375325 RGD:8693752 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MFGE8 milk fat globule EGF and factor V/VIII domain containing IDA RGD PMID:11748647 RGD:1582497 NCBI chr15:88,898,683...88,913,379
Ensembl chr15:88,898,683...88,913,468
JBrowse link
G MMP2 matrix metallopeptidase 2 IDA protein:increased activity:temporal artery RGD PMID:17502363 RGD:8657040 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association IEP
IDA
IAGP
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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA:polymorphism: :p.R620W (rs2476601) (human)
DNA:polymorphism: :1858C>T (human)
RGD PMID:23946333 PMID:16078327 RGD:7829739, RGD:7829744 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association
IAGP DNA:polymorphism: :896A>G(rs4986790)(human)
DNA:polymorphism: :896A>G,1196C>T(human)
RGD PMID:19531762 PMID:21586524 RGD:7777158, RGD:7777159 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40716
    disease of anatomical entity 31989
      cardiovascular system disease 6045
        autoimmune disease of cardiovascular system 151
          Behcet's disease 79
          Libman-Sacks endocarditis 0
          STING-associated vasculopathy with onset in infancy 32
          antiphospholipid syndrome + 14
          autoimmune atherosclerosis 0
          autoimmune cardiomyopathy 0
          autoimmune myocarditis + 30
          autoimmune vasculitis 0
          rheumatic pulmonary valve disease 0
          temporal arteritis 22
Path 2
Term Annotations click to browse term
  disease 40716
    disease of anatomical entity 31989
      Immune & Inflammatory Diseases 6715
        immune system disease 5879
          primary immunodeficiency disease 5008
            autoimmune disease 2530
              autoimmune disease of cardiovascular system 151
                Behcet's disease 79
                Libman-Sacks endocarditis 0
                STING-associated vasculopathy with onset in infancy 32
                antiphospholipid syndrome + 14
                autoimmune atherosclerosis 0
                autoimmune cardiomyopathy 0
                autoimmune myocarditis + 30
                autoimmune vasculitis 0
                rheumatic pulmonary valve disease 0
                temporal arteritis 22
paths to the root