RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: vasculitis
Accession: DOID:865
browse the term
Definition: Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body.
Synonyms: exact_synonym: Angiitides; Angiitis; Vasculitides
primary_id: MESH:D014657 ; RDO:0004883
xref: GARD:9565 ; NCI:C26912
For additional species annotation, visit the
Alliance of Genome Resources .
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Cast
calpastatin
ISO
associated with Lupus Erythematosus, Systemic
RGD
PMID:12367559
RGD:5683623
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
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Cbl
Cbl proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694012
NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Vasculitis
ClinVar
PMID:25741868
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:23074996
RGD:8661749
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Vasculitis
ClinVar
PMID:25741868
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
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Il10
interleukin 10
ISO
RGD
PMID:16504995
RGD:1598487
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il18
interleukin 18
IDA
RGD
PMID:19717152
RGD:4889401
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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LOC299277
similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B
ISO
RGD
PMID:12685871
RGD:1580110
NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
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Mocos
molybdenum cofactor sulfurase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29935280
NCBI chr18:16,590,086...16,636,312
Ensembl chr18:16,590,197...16,636,084
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Mpo
myeloperoxidase
ISO
microscopic polyangiitis
RGD
PMID:21071471
RGD:5130969
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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Nfkbia
NFKB inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
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Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:polymorphism:exon:p.E298D (human)
RGD
PMID:14583572
RGD:7775052
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Senp1
SUMO specific peptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chr 7:139,626,444...139,684,587
Ensembl chr 7:139,630,515...139,675,245 Ensembl chr 7:139,630,515...139,675,245
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1684994
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Csf3
colony stimulating factor 3
treatment
ISO
associated with Severe Congenital Neutropenia;
RGD
PMID:20100783
RGD:11039037
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Csf3
colony stimulating factor 3
ISO
protein:increased expression:serum:
RGD
PMID:23087180
RGD:11039411
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs:exons:rs3087243, rs231775 Caucasian(human)
RGD
PMID:19815671
RGD:7204687
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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F3
coagulation factor III, tissue factor
ISO
RGD
PMID:23873874
RGD:11340221
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:serum (human)
RGD
PMID:12148596
RGD:8662455
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Ltf
lactotransferrin
ISO
RGD
PMID:23201854
RGD:7243106
NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:urine (human)
RGD
PMID:17898039
RGD:7207083
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 activity:urine (human)
RGD
PMID:17898039
RGD:7207083
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mpo
myeloperoxidase
disease_progression
ISO
RGD
PMID:23085883
RGD:7174703
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
susceptibility
ISO
DNA:snp:cds:c.1858C>T (rs2476601) (human)
RGD
PMID:22880107
RGD:11533997
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:21190299
RGD:7240543
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tnf
tumor necrosis factor
severity
ISO
protein:increased expression:serum
RGD
PMID:19690440
RGD:7245518
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
severity
ISO
protein:increased expression:serum, granulocyte
RGD
PMID:19690440
RGD:7245518
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:serum, granulocyte
RGD
PMID:19690440
RGD:7245518
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17139375
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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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
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)
RGD
PMID:17660222 , PMID:22396730
RGD:6484733 , RGD:7829745
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
G
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
G
RT1-CE13
RT1 class I, locus CE13
no_association disease_progression
ISO
DNA:polymorphisms:cds:HLA-B*51 (human) severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) DNA:polymorphisms:cds:HLA-B*15 (human)
RGD
PMID:16101830 , PMID:11426025 , PMID:12622781
RGD:7364873 , RGD:7364939 , RGD:7364918
G
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
G
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
G
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
G
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
G
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
G
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
G
Stat3
signal transducer and activator of transcription 3
no_association
ISO
DNA:SNP: :rs2293152 (human) DNA:SNP: :rs744166, rs2293152 (human)
RGD
PMID:22205606 , PMID:23127549
RGD:6483021 , RGD:8694309
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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
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
G
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
G
Tlr2
toll-like receptor 2
no_association susceptibility
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:intestine: DNA:polymorphism: :12408G>A(human) DNA:SNPs: : rs2289318,rs3804099(human)
RGD
PMID:23908180 , PMID:18336589 , PMID:19796535 , PMID:24255044
RGD:8552883 , RGD:8552915 , RGD:8552888 , RGD:8552885
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
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
G
Tlr4
toll-like receptor 4
no_association susceptibility
ISO
mRNA:increased expression:mononulcear cell: mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) DNA:SNP:3'UTR: rs7037117(human)
RGD
PMID:18234118 , PMID:18336589 , PMID:19796535 , PMID:18408113
RGD:7777175 , RGD:8552915 , RGD:8552888 , RGD:7777176
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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 , 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
G
Vdr
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934 , PMID:21820934
RGD:8158077 , RGD:8158077
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
G
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
G
Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
G
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
G
Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:serum (human)
RGD
PMID:21266446
RGD:11081158
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
G
Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 1:279,203,046...279,572,789
G
Il5
interleukin 5
severity
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22772323
RGD:6892720
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
G
Vtn
vitronectin
ISO
RGD
PMID:12126637
RGD:1580817
NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
G
Aicda
activation-induced cytidine deaminase
ISO
associated with Chronic Hepatitis C; mRNA:increased expression:B cell
RGD
PMID:26219420
RGD:30296664
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
G
Tslp
thymic stromal lymphopoietin
ISO
associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human)
RGD
PMID:25889007
RGD:38596329
NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
G
Il10
interleukin 10
ISO
DNA:SNP, haplotype:promoter
RGD
PMID:20720222
RGD:7364860
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:19585364
RGD:7401211
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il6
interleukin 6
susceptibility
ISO
protein:increased expression:serum: DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:22025890 , PMID:22025890
RGD:7829790 , RGD:7829790
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms, haplotypes:cds:HLA-B12, HLA-B44 (human)
RGD
PMID:9756436
RGD:7365108
G
Tnf
tumor necrosis factor
disease_progression severity
ISO
DNA:SNP, haplotype:promoter protein:increased expression:serum: protein:increased expression:vitreous fluid:
RGD
PMID:20720222 , PMID:19585364 , PMID:21849807 , PMID:21394064 , PMID:21139707
RGD:7364860 , RGD:7401211 , RGD:7394772 , RGD:7387275 , RGD:7387277
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
G
Tgfbi
transforming growth factor, beta induced
ISO
ClinVar Annotator: match by term: Map-dot-fingerprint dystrophy of cornea ClinVar Annotator: match by OMIM:121820
OMIM ClinVar
PMID:16652336 PMID:19337156 PMID:25525159
NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
G
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
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:nasal cavity epithelium protein:increased expression:blood, T cell
RGD
PMID:11529927 , PMID:12716450
RGD:4145634 , RGD:6893409
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
G
Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:12858455
RGD:4892114
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
Cd36
CD36 molecule
ISO
RGD
PMID:21412229
RGD:6893495
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:21411717
RGD:5490596
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human)
RGD
PMID:12022356
RGD:7204724
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
G
Fcar
Fc fragment of IgA receptor
ISO
RGD
PMID:22147912
RGD:7242064
NCBI chr 1:73,230,392...73,263,462
Ensembl chr 1:73,230,390...73,264,302
G
Igf1
insulin-like growth factor 1
ISO
protein:increased expression:nasal cavity mucosa, blood vessel:
RGD
PMID:2772560
RGD:8548880
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Il10
interleukin 10
ISO
RGD
PMID:11838849
RGD:1580480
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Prtn3
proteinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25288799
NCBI chr 7:12,643,712...12,646,951
Ensembl chr 7:12,643,516...12,646,960
G
Thbd
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:20156770
RGD:5684985
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
G
Vtn
vitronectin
ISO
RGD
PMID:12126637
RGD:1580817
NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
G
Ccl2
C-C motif chemokine ligand 2
IMP
RGD
PMID:8231108
RGD:8549573
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Ace
angiotensin I converting enzyme
disease_progression
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15315169
RGD:11038920
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Agt
angiotensinogen
severity
ISO
DNA:missense mutation:cds:p.M235T (human) DNA:missense mutation:cds:p.T174M (human)
RGD
PMID:16521052 , PMID:20702504
RGD:11039045 , RGD:11039055
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
C3
complement C3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1353212
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518C>T (human) protein:increased expression:serum (human)
RGD
PMID:26234573 , PMID:25839768
RGD:11522500 , RGD:11528567
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Cd86
CD86 molecule
treatment
ISO
protein:increased expression:venous blood, B cell (human)
RGD
PMID:27030970
RGD:11354986
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
G
Hmox1
heme oxygenase 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum
RGD
PMID:20013271
RGD:10755701
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
RGD
PMID:9186886
RGD:6909151
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:16787590
RGD:11354946
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
G
Kng2
kininogen 2
ISO
protein:increased expression:serum
RGD
PMID:26098644
RGD:11059888
NCBI chr11:81,509,185...81,516,759
G
Mefv
MEFV innate immuity regulator, pyrin
susceptibility
ISO
DNA:mutations:exons: DNA:mutations:cds: DNA:mutation:exon:p. E148Q (human)
RGD
PMID:22451026 , PMID:25232290 , PMID:20602240
RGD:7349346 , RGD:11531116 , RGD:7349347
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
G
Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:9543574
RGD:11541055
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9002298 PMID:12671112
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
G
Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:19967651
RGD:11552576
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0301, HLA-DQA1*0302 (human)
RGD
PMID:11836690
RGD:5147830
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:plasma
RGD
PMID:16982510
RGD:5686751
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
G
Ager
advanced glycosylation end product-specific receptor
severity
ISO
RGD
PMID:22337222
RGD:8695960
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Blk
BLK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22446961
NCBI chr15:46,555,552...46,593,778
Ensembl chr15:46,555,188...46,593,653
G
Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNP: :rs 1555115(human)
RGD
PMID:19882345
RGD:9685030
NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
G
Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:17672867
RGD:8551811
G
Ccr5
C-C motif chemokine receptor 5
susceptibility treatment
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human) DNA:polymorphisms, haplotype:multiple
RGD
PMID:17672867 , PMID:15962231 , PMID:20628649
RGD:8551811 , RGD:8551815 , RGD:8551812
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
G
Cd40
CD40 molecule
susceptibility
ISO
DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:22446961 PMID:22446962 , PMID:22645426
RGD:8547776
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
G
Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:12563087
RGD:11352236
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
G
Clu
clusterin
treatment
ISO
RGD
PMID:23956692
RGD:8975365
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
G
Crp
C-reactive protein
susceptibility
ISO
DNA:SNP: :1444 C-->T(human)
RGD
PMID:18710885
RGD:9495921
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Eln
elastin
ISO
RGD
PMID:21356372
RGD:9585741
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
G
Fcgr2a
Fc fragment of IgG receptor IIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22081228 PMID:22446962
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:11839635
RGD:1582494
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
G
Hmgb1
high mobility group box 1
ISO
protein:increased expression:serum
RGD
PMID:18720262
RGD:8695977
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
G
Hmox1
heme oxygenase 1
no_association
ISO
RGD
PMID:14521259
RGD:1598409
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
G
Hp
haptoglobin
ISO
RGD
PMID:20957478
RGD:5147383
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
DNA:polymorphism:5' utr:190G>C (rs1043618) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
G
Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
DNA:missense mutation, haplotype:cds:2437T>C (p.M493T) (rs2227956) (human)
RGD
PMID:23870089
RGD:8662464
NCBI chr20:4,879,998...4,965,191
Ensembl chr20:4,959,294...4,964,963
G
Il13
interleukin 13
ISO
RGD
PMID:21958311
RGD:5684363
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
G
Il18
interleukin 18
susceptibility disease_progression
ISO
DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human) DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908) (human)
RGD
PMID:18484687 , PMID:15345916 , PMID:19288449
RGD:8655874 , RGD:8655924 , RGD:8655898
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:22361326 , PMID:8777922
RGD:6482661 , RGD:7401221
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:22367425
RGD:7829825
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
G
Itpkc
inositol-trisphosphate 3-kinase C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18084290
NCBI chr 1:84,018,857...84,040,433
Ensembl chr 1:84,018,859...84,040,433
G
Mbl1
mannose binding lectin 1
ISO
RGD
PMID:24721319
RGD:8693744
NCBI chr16:18,736,154...18,742,193
Ensembl chr16:18,736,154...18,742,193
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:cds:
RGD
PMID:24721319 , PMID:15144709
RGD:8693744 , RGD:8693748
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:blood
RGD
PMID:12626459 , PMID:18311803
RGD:1580170 , RGD:8547899
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Nppb
natriuretic peptide B
ISO
protein:increased expression:plasma
RGD
PMID:21410593
RGD:5685654
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Selp
selectin P
ISO
RGD
PMID:20079717
RGD:6478695
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:blood
RGD
PMID:12626459
RGD:1580170
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:monocyte:
RGD
PMID:18353240
RGD:7777156
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Tnf
tumor necrosis factor
susceptibility treatment
ISO
DNA:SNP: :-308G>A (human)
RGD
PMID:14703611 , PMID:18710885 , PMID:8777922 , PMID:14744383
RGD:1580318 , RGD:9495921 , RGD:7401221 , RGD:7401183
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
G
Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15470196
RGD:1580572
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Fcgr3a
Fc fragment of IgG receptor IIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Ina
internexin neuronal intermediate filament protein, alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
G
Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
G
Selp
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
G
Cx3cl1
C-X3-C motif chemokine ligand 1
severity
ISO
protein:increased expression:serum
RGD
PMID:19327232
RGD:9491765
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
protein:increased expression:blood, T cell
RGD
PMID:19327232
RGD:9491765
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
G
Tcf4
transcription factor 4
ISO
ClinVar Annotator: match by term: Ocular motor apraxia
ClinVar
PMID:25741868
NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
G
Tgm6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Ocular motor apraxia
ClinVar
PMID:25741868
NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:23470165
RGD:9068463
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
G
Eln
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
G
Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
G
Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 1:279,203,046...279,572,789
G
Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Atp6v1e1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,351,434...153,373,558
Ensembl chr 4:153,351,421...153,373,649
G
Bcl2l13
BCL2 like 13
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,385,200...153,438,096
Ensembl chr 4:153,385,205...153,436,660
G
Bid
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
G
Cecr2
CECR2, histone acetyl-lysine reader
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,217,521...153,327,153
Ensembl chr 4:153,217,782...153,322,564
G
Hdhd5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,046,701...153,079,065
Ensembl chr 4:153,047,236...153,078,604
G
Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:152,995,865...153,018,394
Ensembl chr 4:152,995,865...153,018,394
G
Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,484,876...153,631,986
Ensembl chr 4:153,484,876...153,593,773
G
Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
G
Slc25a18
solute carrier family 25 member 18
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,330,069...153,350,447
Ensembl chr 4:153,330,069...153,350,446
G
Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:28492532
NCBI chr 4:153,018,163...153,029,673
Ensembl chr 4:153,026,411...153,028,129
G
Agt
angiotensinogen
ISO
RGD
PMID:19834028
RGD:11039401
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
DNA:missense mutations, haplotypes:cds:p.V249I, p.T280M (human)
RGD
PMID:16799040
RGD:9491394
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
G
Il6
interleukin 6
ISO
RGD
PMID:19834028
RGD:11039401
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
RT1-CE13
RT1 class I, locus CE13
ISO
associated with Behcet Syndrome; DNA:polymorphisms:cds HLA B-5 (human)
RGD
PMID:12608042
RGD:7364920
G
Il10
interleukin 10
ISO
RGD
PMID:7593621
RGD:11049456
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
G
Il6
interleukin 6
treatment
ISO
RGD
PMID:1381315
RGD:11060272
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Csf3
colony stimulating factor 3
ISO
RGD
PMID:23087180
RGD:11039411
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
G
Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23146691
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
G
Ager
advanced glycosylation end product-specific receptor
ISO
protein:decreased expression:serum
RGD
PMID:20579752
RGD:8695992
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Il2
interleukin 2
susceptibility disease_progression
ISO
DNA:polymorphism::-300G>T(human)
RGD
PMID:17002904 , PMID:2574087
RGD:8663467 , RGD:8693331
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
G
Mmp3
matrix metallopeptidase 3
treatment
ISO
RGD
PMID:23100088
RGD:8693315
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
G
Mmp9
matrix metallopeptidase 9
disease_progression
ISO
RGD
PMID:23100088
RGD:8693315
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
G
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
G
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
G
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
G
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
G
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
G
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
G
Eln
elastin
ISO
RGD
PMID:9101501
RGD:9585754
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
G
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
G
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
G
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
G
Il17a
interleukin 17A
severity susceptibility
ISO
mRNA, protein:increased expression:temporal artery (human) DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD
PMID:22993227 , PMID:24919468
RGD:8698666 , RGD:9068454
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
G
Il18
interleukin 18
no_association
ISO
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD
PMID:20331879 , PMID:20331879
RGD:8655865 , RGD:8655865
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
G
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
G
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
G
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
G
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
G
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
G
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
G
Mmp9
matrix metallopeptidase 9
no_association
ISO
protein:increased expression:temporal artery (human) protein:increased activity:temporal artery DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) DNA:SNP:CDS:rs2250889 (human) protein:increased expression:serum
RGD
PMID:15998676 , PMID:17502363 , PMID:18512818 , PMID:18512818 , PMID:8843867
RGD:1580575 , RGD:8657040 , RGD:8547902 , RGD:8547902 , RGD:8547826
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:polymorphism: :p.R620W (rs2476601) (human) DNA:polymorphism: :1858C>T (human)
RGD
PMID:23946333 , PMID:16078327
RGD:7829739 , RGD:7829744
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
G
RT1-Db1
RT1 class II, locus Db1
onset
ISO
associated with Polymyalgia Rheumatica;DNA:polymorphisms (human) DNA:polymorphism (human)
RGD
PMID:20064872 , PMID:16846526
RGD:5147583 , RGD:5147974
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
G
Tlr4
toll-like receptor 4
susceptibility no_association
ISO
DNA:polymorphism: :896A>G(rs4986790)(human) DNA:polymorphism: :896A>G,1196C>T(human)
RGD
PMID:19531762 , PMID:21586524
RGD:7777158 , RGD:7777159
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Ager
advanced glycosylation end product-specific receptor
treatment
IEP IDA
mRNA, protein:increased expression:femoral artery (rat)
RGD
PMID:23069071 , PMID:23069071
RGD:7207785 , RGD:7207785
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Crhr1
corticotropin releasing hormone receptor 1
IEP
mRNA:increased expression:femoral artery (rat)
RGD
PMID:19572944
RGD:5508315
NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
G
Eln
elastin
ISO
protein:increased expression:blood:
RGD
PMID:8763587
RGD:9585753
NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
G
Ucn
urocortin
IEP IDA
mRNA:increased expression:femoral artery (rat)
RGD
PMID:19572944 , PMID:19572944
RGD:5508315 , RGD:5508315
NCBI chr 6:26,602,144...26,602,974
Ensembl chr 6:26,602,144...26,602,974
G
Vcam1
vascular cell adhesion molecule 1
ISO IEP
protein:increased expression:femoral artery:
RGD
PMID:12086338 , PMID:23069071
RGD:1580352 , RGD:7207785
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
G
Mir223
microRNA 223
IMP
RGD
PMID:32141571
RGD:26884338
NCBI chr X:65,367,812...65,367,921
Ensembl chr X:65,367,812...65,367,921
G
Pros1
protein S
ISO
RGD
PMID:12907438
RGD:1578677
NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
G
RT1-CE13
RT1 class I, locus CE13
ISO
associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish)
RGD
PMID:12372094
RGD:7364924
G
Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
associated with Lupus Erythematosus, Systemic;DNA:snp:promoter:g.-2518A>G (human)
RGD
PMID:11844145
RGD:11528536
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all