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
Accession: DOID:0060051
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)
For additional species annotation, visit the
Alliance of Genome Resources .
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Apoh
apolipoprotein H
ISO
RGD
PMID:24642748
RGD:10054118
NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
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Cd4
Cd4 molecule
treatment
ISO
RGD
PMID:7914411
RGD:10058961
NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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Cd40lg
CD40 ligand
ISO
RGD
PMID:16188945
RGD:11344980
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Crp
C-reactive protein
ISO
RGD
PMID:17014014
RGD:6907402
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Plat
plasminogen activator, tissue type
ISO
RGD
PMID:16320350
RGD:1580877
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28182703
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
RGD
PMID:25196808
RGD:11099994
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism (human)
RGD
PMID:11157139
RGD:5147862
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms: :multiple (human)
RGD
PMID:11157139
RGD:5147862
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:11157139
RGD:5147862
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)
RGD
PMID:22705826
RGD:8657073
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Ace
angiotensin I converting enzyme
susceptibility no_association
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15961928 , PMID:15045629
RGD:7829810 , RGD:8142349
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21044750
RGD:8694430
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045206
NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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Cat
catalase
ISO
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830 , PMID:17206395
RGD:9068907
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518A>G (human) protein:increased expression:plasma (human)
RGD
PMID:19782713 , PMID:12712358
RGD:8548882 , RGD:8549488
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccr1
C-C motif chemokine receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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Ccr5
C-C motif chemokine receptor 5
no_association
ISO
protein:increased expression:blood, T cell (human) DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:15501397 , PMID:15009175 , PMID:17067435
RGD:4892106 , RGD:8551827 , RGD:8551814
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:22116092
RGD:8547820
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cfb
complement factor B
ISO
RGD
PMID:6900632
RGD:7411737
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:15668188
RGD:1598474
NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
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Crp
C-reactive protein
ISO
protein:increased expression:plasma,erythrocyte:
RGD
PMID:12180795
RGD:9491757
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNPs: :1661A>G,49C>A(human)
RGD
PMID:19563524
RGD:7411682
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:SNPs: :4889A>G, 4887C>A (human)
RGD
PMID:15088300
RGD:8552789
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9132327
RGD:8661801
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
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F5
coagulation factor V
no_association
ISO
DNA:mutation: :1691G>A (human)
RGD
PMID:15077257
RGD:7394769
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:9836498
RGD:8662438
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Fcgr3a
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:SNP:exon:p.F158V (rs396991)(human)
RGD
PMID:19026120
RGD:5508432
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Hmox1
heme oxygenase 1
ISO
mRNA:decreased expression:mononulcear cell:
RGD
PMID:18234118
RGD:7777175
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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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
PMID:8712863 PMID:12074830 , PMID:12808331 , PMID:11409120 , PMID:10792421
RGD:8158115 , RGD:8547575 , RGD:8158123
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng
interferon gamma
ISO
associated with Uveitis; protein:increased expression:aqueous humor: protein:increased expression:serum:
RGD
PMID:21334264 , PMID:2154346
RGD:8142356 , RGD:8142377
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
DNA:missense mutation:cds:1217A>T(D406V)(human)
RGD
PMID:20412081
RGD:12791269
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Il10
interleukin 10
disease_progression onset susceptibility treatment
ISO
DNA, protein:hypermethylation, decreased expression:promoter, serum DNA:SNP:promoter:-592A>C (rs1800872) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:20622878 PMID:20622879 , PMID:15980236 , PMID:26654556 , PMID:29719061 , PMID:29294320 , PMID:21506890
RGD:1598628 , RGD:14975256 , RGD:14975149 , RGD:14975131 , RGD:7364843
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human)
RGD
PMID:21455110
RGD:8698672
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il18
interleukin 18
susceptibility no_association
ISO
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:14727452 , PMID:15234532 , PMID:21532063 , PMID:16273766 , PMID:17055358
RGD:4889844 , RGD:8655927 , RGD:8655926 , RGD:8655910 , RGD:8655897
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il18r1
interleukin 18 receptor 1
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868
NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
ISO
DNA:polymorphism:promoter (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21724243
RGD:6892926
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP: :rs1884444(human) DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD
PMID:22483685 , PMID:20375120
RGD:8549550 , RGD:8549565
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Il4
interleukin 4
ISO
DNA:polymorphisms:promoter:-33T>C (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
ISO
protein:increased secretion:monocyte:
RGD
PMID:8164212
RGD:7829752
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:12412731
RGD:1582300
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Mbl2
mannose binding lectin 2
severity susceptibility
ISO
protein:decreased secretion:serum (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:15693089 , PMID:15730518
RGD:1582155 , RGD:1582154
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mefv
MEFV innate immuity regulator, pyrin
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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Mir155
microRNA 155
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:30366049 , PMID:27156371
RGD:21409751 , RGD:25671481
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17949555
RGD:8657044
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:plasma, platelets
RGD
PMID:22116092 , PMID:17949555
RGD:8547820 , RGD:8657044
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:15663505
RGD:8552650
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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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's syndrome DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar
PMID:28492532 , PMID:19748964 , PMID:15515785
RGD:8158059 , RGD:13204711
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Nos3
nitric oxide synthase 3
susceptibility no_association
ISO
DNA:snp:cds:p.E298D (human) DNA:duplication:intron:g.IVS4?-?+27 (human) DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD
PMID:11908569 , PMID:21957880 , PMID:15705632 , PMID:16463158
RGD:7771576 , RGD:7775050 , RGD:7775048 , RGD:7771577
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:15377545
RGD:8547573
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Proz
protein Z, vitamin K-dependent plasma glycoprotein
ISO
RGD
PMID:14507116
RGD:1580692
NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)
RGD
PMID:17660222 , PMID:22396730
RGD:6484733 , RGD:7829745
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human)
RGD
PMID:23396137
RGD:7483565
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-CE13
RT1 class I, locus CE13
no_association disease_progression
ISO
DNA:polymorphisms:cds:HLA-B*51 (human) severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) DNA:polymorphisms:cds:HLA-B*15 (human)
RGD
PMID:16101830 , PMID:11426025 , PMID:12622781
RGD:7364873 , RGD:7364939 , RGD:7364918
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :DRB1*0802(human)
RGD
PMID:1358857
RGD:7365104
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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RT1-DMa
RT1 class II, locus DMa
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
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RT1-DMb
RT1 class II, locus DMb
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:3,945,383...3,952,838
Ensembl chr20:5,227,045...5,234,290 Ensembl chr20:5,227,045...5,234,290
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RT1-M5
RT1 class Ib, locus M5
ISO
DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
RGD
PMID:11426025
RGD:7364939
NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
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Serpine1
serpin family E member 1
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830 , PMID:18341631
RGD:8547693
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:polymorphism:intron (human)
RGD
PMID:18998137
RGD:5684936
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:serum (human)
RGD
PMID:12458889
RGD:1580846
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Stat3
signal transducer and activator of transcription 3
no_association
ISO
DNA:SNP: :rs2293152 (human) DNA:SNP: :rs744166, rs2293152 (human)
RGD
PMID:22205606 , PMID:23127549
RGD:6483021 , RGD:8694309
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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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
PMID:23291587 , PMID:20438790 , PMID:23001997
RGD:8661713 , RGD:8661718
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Tgfb1
transforming growth factor, beta 1
ISO
DNA:polymorphism:promoter:exon (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tlr2
toll-like receptor 2
no_association susceptibility
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:intestine: DNA:polymorphism: :12408G>A(human) DNA:SNPs: : rs2289318,rs3804099(human)
RGD
PMID:23908180 , PMID:18336589 , PMID:19796535 , PMID:24255044
RGD:8552883 , RGD:8552915 , RGD:8552888 , RGD:8552885
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr3
toll-like receptor 3
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:23908180
RGD:8552883
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tlr4
toll-like receptor 4
no_association susceptibility
ISO
mRNA:increased expression:mononulcear cell: mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) DNA:SNP:3'UTR: rs7037117(human)
RGD
PMID:18234118 , PMID:18336589 , PMID:19796535 , PMID:18408113
RGD:7777175 , RGD:8552915 , RGD:8552888 , RGD:7777176
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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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 , PMID:14600787
RGD:7394759 , RGD:12904048 , RGD:12904040 , RGD:12904036 , RGD:8142356 , RGD:7401213
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:28492532 PMID:28814775 , PMID:14600787
RGD:7401213
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934 , PMID:21820934
RGD:8158077 , RGD:8158077
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum
RGD
PMID:15257411
RGD:8655578
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Vwf
von Willebrand factor
ISO
RGD
PMID:15849757
RGD:1580642
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:23674516
RGD:8695925
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Ager
advanced glycosylation end product-specific receptor
IEP
protein:increased expression:heart
RGD
PMID:24599045
RGD:8696002
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Casp3
caspase 3
treatment
IEP ISO
RGD
PMID:28903333 , PMID:23833961
RGD:13702869 , RGD:13702874
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Casp8
caspase 8
treatment
ISO
RGD
PMID:23833961
RGD:13702874
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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Casp9
caspase 9
treatment
ISO
RGD
PMID:23833961
RGD:13702874
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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Cav1
caveolin 1
IEP
RGD
PMID:17060028
RGD:1625364
NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
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Cav2
caveolin 2
IEP
RGD
PMID:17060028
RGD:1625364
NCBI chr 4:44,573,264...44,580,640
Ensembl chr 4:44,573,264...44,580,638
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Ccl2
C-C motif chemokine ligand 2
disease_progression
IEP
mRNA, protein:increased expression:heart, serum (rat)
RGD
PMID:11472393
RGD:8549580
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Cd28
Cd28 molecule
treatment severity
IDA ISO
RGD
PMID:19907173 , PMID:8759765
RGD:13702882 , RGD:13702883
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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Cd40
CD40 molecule
treatment
IMP
RGD
PMID:25297507
RGD:13702884
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Fgl2
fibrinogen-like 2
severity
IEP
RGD
PMID:28892130
RGD:38549573
NCBI chr 4:10,323,598...10,329,241
Ensembl chr 4:10,323,607...10,329,241
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Foxp3
forkhead box P3
severity treatment
IEP
RGD
PMID:28892130 , PMID:19907173
RGD:38549573 , RGD:13702882
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Grk2
G protein-coupled receptor kinase 2
treatment
IEP
RGD
PMID:30024944
RGD:13792695
NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
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Hamp
hepcidin antimicrobial peptide
IEP
mRNA:increased expression:heart
RGD
PMID:19615879
RGD:11041636
NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
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Hmgb1
high mobility group box 1
IEP
protein:increased expression:heart, serum
RGD
PMID:24599045
RGD:8696002
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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Hspa5
heat shock protein family A (Hsp70) member 5
treatment
IEP
RGD
PMID:21927577
RGD:5685668
NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
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Icam1
intercellular adhesion molecule 1
treatment
IEP
RGD
PMID:11701617
RGD:13702911
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Il10
interleukin 10
treatment
IEP
RGD
PMID:19907173
RGD:13702882
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il13
interleukin 13
treatment
IMP
RGD
PMID:15902684
RGD:8549607
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il1rn
interleukin 1 receptor antagonist
treatment
ISO
mouse gene in a rat model
RGD
PMID:15795329
RGD:8551728
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il6
interleukin 6
treatment
IDA
RGD
PMID:26339812
RGD:11062109
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Kcna5
potassium voltage-gated channel subfamily A member 5
IEP
RGD
PMID:15306225
RGD:7242784
NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
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Myh6
myosin heavy chain 6
ISO
RGD
PMID:10199887
RGD:12792956
NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
protein:increased expression:myocardium (rat)
RGD
PMID:15167281
RGD:8553039
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Reg3b
regenerating family member 3 beta
IEP
mRNA:increased expression:heart, cardiomyocyte (rat)
RGD
PMID:18774541
RGD:9831381
NCBI chr 4:109,467,272...109,470,510
Ensembl chr 4:109,467,272...109,470,510
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Rorc
RAR-related orphan receptor C
severity
IEP
RGD
PMID:28892130
RGD:38549573
NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630
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Rps6
ribosomal protein S6
IDA
RGD
PMID:22014063
RGD:11041642
NCBI chr 5:105,197,821...105,200,681
Ensembl chr 5:105,197,857...105,200,148 Ensembl chr 5:105,197,857...105,200,148
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Sirt1
sirtuin 1
treatment
IEP
RGD
PMID:17322642
RGD:9586020
NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
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Tnfaip3
TNF alpha induced protein 3
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like
ClinVar OMIM
PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532
NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
ClinVar Annotator: match by term: Sting-associated vasculopathy, infantile-onset
OMIM ClinVar
PMID:24033266 PMID:25029335 PMID:25401470 PMID:25741868 PMID:26235147 PMID:27613991 PMID:28087229 PMID:28166811 PMID:28484079 PMID:28492532 PMID:29367762
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:15742444
RGD:1581162
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10616010
RGD:5024918
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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Crh
corticotropin releasing hormone
no_association
ISO
DNA:polymorphism:promoter
RGD
PMID:12051390
RGD:1581301
NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
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Crp
C-reactive protein
ISO
protein:increased expression:blood:
RGD
PMID:15206651
RGD:9491785
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Csf2
colony stimulating factor 2
ISO
RGD
PMID:9844760
RGD:11059502
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Dll1
delta like canonical Notch ligand 1
ISO
mRNA:increased expression:temporal artery
RGD
PMID:21220737
RGD:6482238
NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
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Eln
elastin
ISO
RGD
PMID:9101501
RGD:9585754
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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Fcgr2a
Fc fragment of IgG receptor IIa
ISO
DNA:polymorphism: :p.H131R (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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Fcgr3a
Fc fragment of IgG receptor IIIa
ISO
DNA:polymorphism (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Ifng
interferon gamma
severity
ISO
DNA:repeats:intron:
RGD
PMID:15675129
RGD:8157621
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il17a
interleukin 17A
severity susceptibility
ISO
mRNA, protein:increased expression:temporal artery (human) DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD
PMID:22993227 , PMID:24919468
RGD:8698666 , RGD:9068454
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il18
interleukin 18
no_association
ISO
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD
PMID:20331879 , PMID:20331879
RGD:8655865 , RGD:8655865
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:22147555
RGD:6892962
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Il4
interleukin 4
ISO
DNA:SNP, haplotype: :rs2227284 (human)
RGD
PMID:15570643
RGD:7829811
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Jag1
jagged canonical Notch ligand 1
ISO
mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear
RGD
PMID:21220737
RGD:6482238
NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
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Mbl2
mannose binding lectin 2
ISO
DNA:polymorphism:cds:
RGD
PMID:12375325
RGD:8693752
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mfge8
milk fat globule EGF and factor V/VIII domain containing
ISO
RGD
PMID:11748647
RGD:1582497
NCBI chr 1:140,845,478...140,860,882
Ensembl chr 1:140,845,465...140,860,894
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:temporal artery
RGD
PMID:17502363
RGD:8657040
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
no_association
ISO
protein:increased expression:temporal artery (human) protein:increased activity:temporal artery DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) DNA:SNP:CDS:rs2250889 (human) protein:increased expression:serum
RGD
PMID:15998676 , PMID:17502363 , PMID:18512818 , PMID:18512818 , PMID:8843867
RGD:1580575 , RGD:8657040 , RGD:8547902 , RGD:8547902 , RGD:8547826
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:polymorphism: :p.R620W (rs2476601) (human) DNA:polymorphism: :1858C>T (human)
RGD
PMID:23946333 , PMID:16078327
RGD:7829739 , RGD:7829744
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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RT1-Db1
RT1 class II, locus Db1
onset
ISO
associated with Polymyalgia Rheumatica;DNA:polymorphisms (human) DNA:polymorphism (human)
RGD
PMID:20064872 , PMID:16846526
RGD:5147583 , RGD:5147974
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Tlr4
toll-like receptor 4
susceptibility no_association
ISO
DNA:polymorphism: :896A>G(rs4986790)(human) DNA:polymorphism: :896A>G,1196C>T(human)
RGD
PMID:19531762 , PMID:21586524
RGD:7777158 , RGD:7777159
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all