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.
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Ace
angiotensin I converting enzyme
ISO
Chronic Granulomatous Uveitis;protein:increased expression:serum (human)
RGD
PMID:229083
RGD:8142348
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257
NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624
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Anxa1
annexin A1
treatment
ISO
RGD
PMID:21633711 PMID:23645879
RGD:7421538 RGD:7421539
NCBI chrNW_004624811:765,338...782,203
Ensembl chrNW_004624811:764,940...782,198
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Aqp1
aquaporin 1 (Colton blood group)
ISO
RGD
PMID:20383338
RGD:5148029
NCBI chrNW_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766
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Aqp4
aquaporin 4
ISO
protein:decreased expression:retina
RGD
PMID:20383338 PMID:21724913
RGD:5148029 RGD:5490118
NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628
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Arg1
arginase 1
ISO
mRNA, protein:increased expression:eye (rat)
RGD
PMID:12470967
RGD:631755
NCBI chrNW_004624753:5,737,720...5,749,313
Ensembl chrNW_004624753:5,737,237...5,752,966
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Ass1
argininosuccinate synthase 1
ISO
mRNA, protein:increased expression:eye (rat)
RGD
PMID:12470967
RGD:631755
NCBI chrNW_004624760:5,180,095...5,221,677
Ensembl chrNW_004624760:5,180,095...5,221,732
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Calb2
calbindin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012
NCBI chrNW_004624746:13,549,339...13,577,929
Ensembl chrNW_004624746:13,548,540...13,578,501
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:conjunctiva, ciliary body
RGD
PMID:19104678
RGD:2306302
NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
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Cd163
CD163 molecule
ISO
associated with Endotoxemia;protein:increased expression:iris (rat)
RGD
PMID:19347047
RGD:2312506
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
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Cryaa
crystallin alpha A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012 PMID:21850155
NCBI chrNW_004624745:27,636,932...27,639,814
Ensembl chrNW_004624745:27,637,267...27,639,371
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Crybb2
crystallin beta B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012 PMID:21850155
NCBI chrNW_004624747:1,851,242...1,867,650
Ensembl chrNW_004624747:1,851,248...1,867,573
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
associated with Endotoxemia;mRNA, protein:increased expression:retina
RGD
PMID:19648777
RGD:4891945
NCBI chrNW_004624746:28,677,956...28,688,638
Ensembl chrNW_004624746:28,677,709...28,689,122
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
associated with Endotoxemia;mRNA, protein:increased expression:retina
RGD
PMID:19648777
RGD:4891945
NCBI chrNW_004624731:1,705,953...1,719,452
Ensembl chrNW_004624731:1,706,043...1,719,452
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:16505038
RGD:2311384
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
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Gc
GC vitamin D binding protein
susceptibility
ISO
associated with Spondylitis, Ankylosing;DNA:SNP: :rs4752(human)
RGD
PMID:21844150
RGD:5509918
NCBI chrNW_004624890:3,274,239...3,318,281
Ensembl chrNW_004624890:3,226,900...3,318,316
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:15699169
RGD:5508475
NCBI chrNW_004624951:681,559...711,476
Ensembl chrNW_004624951:682,178...711,474
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Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
associated with Sarcoidosis;DNA:SNP:exon:rs2075800 (human)
RGD
PMID:17591867
RGD:5147597
NCBI chrNW_004624754:24,403,438...24,423,477
Ensembl chrNW_004624754:24,416,738...24,424,613
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21850155
NCBI chrNW_004624743:31,324,085...31,345,681
Ensembl chrNW_004624743:31,324,085...31,345,695
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:altered expression:serum, vitreous humor
RGD
PMID:7641842 PMID:9640197
RGD:8158119 RGD:8547585
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Icos
inducible T cell costimulator
ISO
protein:increased expression:spleen, lymph node, retina
RGD
PMID:16601981
RGD:1624269
NCBI chrNW_004624765:12,351,695...12,417,847
Ensembl chrNW_004624765:12,352,042...12,372,861
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Ifng
interferon gamma
treatment
ISO
associated with Behcet's disease protein:increased expression:aqueous humor,serum
RGD
PMID:10865312 PMID:15875359 PMID:29534057
RGD:14974251 RGD:7365086 RGD:8142394
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Ifngr1
interferon gamma receptor 1
ISO
associated with Behcet's disease
RGD
PMID:29534057
RGD:14974251
NCBI chrNW_004624886:618,372...640,954
Ensembl chrNW_004624886:618,289...642,928
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Il10
interleukin 10
ISO
DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human) protein:increased expression:serum
RGD
PMID:10865312 PMID:20335604
RGD:7364845 RGD:7365086
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il13
interleukin 13
treatment
ISO
RGD
PMID:11481267 PMID:17392164
RGD:4145496 RGD:8549551
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
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Il17a
interleukin 17A
ISO
associated with Behcet Syndrome;protein:increased expression:serum (human)
RGD
PMID:19373578 PMID:23101722
RGD:4888523 RGD:9068441
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Il18
interleukin 18
treatment
ISO
RGD
PMID:22562515
RGD:8655982
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8125721
RGD:7401166
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
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Il1b
interleukin 1 beta
ISO
RGD
PMID:1318867 PMID:8125721
RGD:7401166 RGD:7401178
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Il2
interleukin 2
ISO
protein:increased expression:aqueous humor,serum
RGD
PMID:10865312
RGD:7365086
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Il21r
interleukin 21 receptor
ISO
mRNA, protein:increased expression:lymph node, spleen
RGD
PMID:20057909 PMID:21593413
RGD:6892928 RGD:6892932
NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650
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Il23r
interleukin 23 receptor
susceptibility
ISO
associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human)
RGD
PMID:21846945
RGD:8549545
NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109
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Il6
interleukin 6
ISO
protein:increased expression:aqueous humor: associated with Behcet Syndrome;protein:increased expression:serum: protein:increased expression:eye
RGD
PMID:1544781 PMID:10420202 PMID:15209464
RGD:7387294 RGD:7829723 RGD:7829806
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Il6r
interleukin 6 receptor
ISO
protein:increased expression:aqueous humor:
RGD
PMID:10420202
RGD:7829723
NCBI chrNW_004624885:2,910,367...2,946,916
Ensembl chrNW_004624885:2,910,112...2,946,886
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Kcnj10
potassium inwardly rectifying channel subfamily J member 10
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:17356517
RGD:8662881
NCBI chrNW_004624794:1,180,822...1,211,781
Ensembl chrNW_004624794:1,180,834...1,212,456
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
associated with Encephalomyelitis, Autoimmune, Experimental
RGD
PMID:16723470
RGD:5147639
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:21296813
RGD:5508729
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:eye (mouse)
RGD
PMID:21911582
RGD:5509582
NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
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Nr3c1
nuclear receptor subfamily 3 group C member 1
ISO
mRNA, protein:decreased expression:ciliary body, iris mRNA:decreased expression:retina (rat)
RGD
PMID:21724913 PMID:23152847
RGD:5490118 RGD:7174735
NCBI chrNW_004624774:2,496,276...2,603,894
Ensembl chrNW_004624774:2,495,304...2,602,632
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:uvea
RGD
PMID:18087711
RGD:2298858
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
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Sag
S-antigen visual arrestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8407215
NCBI chrNW_004624843:5,837,105...5,870,417
Ensembl chrNW_004624843:5,844,823...5,870,300
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Serpinf1
serpin family F member 1
treatment
ISO
associated with Keratitis; human protein in a rat model protein:increased expression:aqueous humor (human) CTD Direct Evidence: therapeutic
RGD CTD
PMID:16973658 PMID:19553628
RGD:8554887 RGD:8554902
NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
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Sncb
synuclein beta
ISO
RGD
PMID:12496452
RGD:730073
NCBI chrNW_004624733:13,506,181...13,513,979
Ensembl chrNW_004624733:13,506,180...13,513,712
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012 PMID:21850155
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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Tgfb1
transforming growth factor beta 1
treatment
ISO
RGD
PMID:9008650
RGD:7394815
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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Tjp1
tight junction protein 1
ISO
protein:decreased expression, altered localization: corneal endothelium
RGD
PMID:18587491
RGD:2325139
NCBI chrNW_004624768:2,826,848...3,034,195
Ensembl chrNW_004624768:2,828,324...3,034,302
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Tlr4
toll like receptor 4
ISO
protein:increased expression:iris
RGD
PMID:19347047
RGD:2312506
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tnf
tumor necrosis factor
treatment disease_progression
ISO
associated with Behcet Syndrome; protein:increased expression:serum: protein:increased expression:serum,Aqueous Humor:
RGD
PMID:1318867 PMID:8125721 PMID:11586057 PMID:15209464 PMID:19440225 PMID:20673052 More...
RGD:13825264 RGD:7387294 RGD:7394761 RGD:7394806 RGD:7401166 RGD:7401178
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfrsf1a
TNF receptor superfamily member 1A
treatment
ISO
protein:increased expression:serum
RGD
PMID:12824249 PMID:15746567 PMID:19440225
RGD:13825264 RGD:5131249 RGD:8661746
NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
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Vip
vasoactive intestinal peptide
ISO
RGD
PMID:19232006
RGD:4889998
NCBI chrNW_004624785:5,466,429...5,487,763
Ensembl chrNW_004624785:5,468,563...5,488,143
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Crp
C-reactive protein
ISO
protein:increased expression:serum: protein:increased expression:plasma:
RGD
PMID:11914210 PMID:24697218
RGD:9491782 RGD:9491833
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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C2
complement C2
no_association
ISO
DNA:SNP: :rs3020644 (human)
RGD
PMID:22714898
RGD:7411695
NCBI chrNW_004624754:24,316,778...24,327,065
Ensembl chrNW_004624754:24,317,058...24,322,656
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C3
complement C3
ISO
protein:increased expression:eye anterior chamber, ciliary body, iris
RGD
PMID:6610667 PMID:16751365
RGD:1600478 RGD:7411736
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
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Cfb
complement factor B
no_association
ISO
DNA:SNP: :rs537160, rs4151657, rs2072633 (human) DNA:SNP: :rs1048709 (human)
RGD
PMID:6610667 PMID:22714898
RGD:7411695 RGD:7411736
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
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Cfh
complement factor H
ISO
DNA:SNP, haplotype: :rs800292 (human)
RGD
PMID:22714898
RGD:7411695
NCBI chrNW_004624798:3,332,549...3,414,435
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Ifng
interferon gamma
ISO
RGD
PMID:10227812
RGD:8157614
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Il1rn
interleukin 1 receptor antagonist
ISO
human gene in rabbit model
RGD
PMID:19693263
RGD:8551704
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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LOC101724812
C-C chemokine receptor type 1
ISO
associated with Encephalomyelitis, Autoimmune, Experimental
RGD
PMID:11687534
RGD:5688173
NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:eye (rat)
RGD
PMID:21976127
RGD:5508734
NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
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Tlr2
toll like receptor 2
ISO
RGD
PMID:17389503
RGD:8552823
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr4
toll like receptor 4
ISO
RGD
PMID:17389503 PMID:21264236
RGD:7794836 RGD:8552823
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tnf
tumor necrosis factor
ISO
DNA:SNP, haplotype:promoter:-857 C>T (human)
RGD
PMID:15851552
RGD:8548818
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Cxcl8
C-X-C motif chemokine ligand 8
treatment
ISO
human recombinant protein in a rat model
RGD
PMID:28011398
RGD:150520199
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Ace
angiotensin I converting enzyme
no_association susceptibility
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15045629 PMID:15961928
RGD:7829810 RGD:8142349
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Ada2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868 PMID:27884168 PMID:28492532 PMID:28814775 PMID:29681619
NCBI chrNW_004624735:10,023,330...10,052,600
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21044750
RGD:8694430
NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045206
NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192
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Cat
catalase
ISO
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12074830 PMID:17206395
RGD:9068907
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:22116092
RGD:8547820
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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Cdk6
cyclin dependent kinase 6
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
NCBI chrNW_004624809:349,453...588,986
Ensembl chrNW_004624809:349,404...579,599
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Cfb
complement factor B
ISO
RGD
PMID:6900632
RGD:7411737
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:15668188
RGD:1598474
NCBI chrNW_004624748:8,850,128...8,927,986
Ensembl chrNW_004624748:8,849,900...8,928,853
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Crp
C-reactive protein
ISO
protein:increased expression:plasma,erythrocyte:
RGD
PMID:12180795
RGD:9491757
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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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 chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Dhcr7
7-dehydrocholesterol reductase
ISO
associated with uveitis; DNA:SNP:CDS:rs12785878 (human)
RGD
PMID:24184224
RGD:401901083
NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9132327
RGD:8661801
NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chrNW_004624743:15,407,217...15,442,610
Ensembl chrNW_004624743:15,408,485...15,431,967
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F5
coagulation factor V
no_association
ISO
DNA:mutation: :1691G>A (human)
RGD
PMID:15077257
RGD:7394769
NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012
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Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:9836498
RGD:8662438
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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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 chrNW_004624826:51,387...59,117
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Hmox1
heme oxygenase 1
ISO
mRNA:decreased expression:mononulcear cell:
RGD
PMID:18234118
RGD:7777175
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
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Icam1
intercellular adhesion molecule 1
no_association susceptibility
ISO
DNA:SNP:exon:p.R241G (human) DNA:polymorphism: :p.K469E (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331
RGD:8158115 RGD:8158123 RGD:8547575
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Ifng
interferon gamma
ISO
associated with Uveitis; protein:increased expression:aqueous humor: protein:increased expression:serum:
RGD
PMID:2154346 PMID:21334264
RGD:8142356 RGD:8142377
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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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 chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379
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Il10
interleukin 10
disease_progression treatment susceptibility onset
ISO
DNA:SNP:promoter:-592A>C (rs1800872) (human) DNA, protein:hypermethylation, decreased expression:promoter, serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 PMID:29294320 PMID:29719061 More...
RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human)
RGD
PMID:21455110
RGD:8698672
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Il18
interleukin 18
no_association susceptibility
ISO
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063
RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il18r1
interleukin 18 receptor 1
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868
NCBI chrNW_004624749:6,875,934...6,909,702
Ensembl chrNW_004624749:6,875,750...6,909,734
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Il2
interleukin 2
ISO
DNA:polymorphism:promoter (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21724243
RGD:6892926
NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP: :rs1884444(human) DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD
PMID:20375120 PMID:22483685
RGD:8549550 RGD:8549565
NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109
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Il4
interleukin 4
ISO
DNA:polymorphisms:promoter:-33T>C (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004624733:39,412,800...39,420,079
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Il6
interleukin 6
ISO
protein:increased secretion:monocyte:
RGD
PMID:8164212
RGD:7829752
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Irf8
interferon regulatory factor 8
susceptibility
ISO
DNA:Hypermethylation protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human) DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)
RGD
PMID:26794091 PMID:28592884 PMID:28881647
RGD:329902077 RGD:329902079 RGD:329955373
NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:12412731
RGD:1582300
NCBI chrNW_004624759:6,281,698...6,376,702
Ensembl chrNW_004624759:6,281,561...6,376,712
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004624782:13,635,217...13,671,401
Ensembl chrNW_004624782:13,640,996...13,669,541
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Itgam
integrin subunit alpha M
ISO
protein:increased expression:neutrophil (human)
RGD
PMID:21719422
RGD:329901843
NCBI chrNW_004624782:14,316,505...14,367,841
Ensembl chrNW_004624782:14,318,499...14,367,922
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611
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LOC101700274
HLA class II histocompatibility antigen, DM alpha chain
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chrNW_004624754:23,752,352...23,765,319
Ensembl chrNW_004624754:23,762,051...23,765,593
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LOC101701356
HLA class II histocompatibility antigen, DM beta chain
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chrNW_004624754:23,774,013...23,779,851
Ensembl chrNW_004624754:23,773,934...23,779,952
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human)
RGD
PMID:23396137
RGD:7483565
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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LOC101707509
cytochrome P450 1A1
ISO
DNA:SNPs: :4889A>G, 4887C>A (human)
RGD
PMID:15088300
RGD:8552789
NCBI chrNW_004627988:7...1,323
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LOC101724812
C-C chemokine receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726
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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:1582154 RGD:1582155
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330
NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17949555
RGD:8657044
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:plasma, platelets
RGD
PMID:17949555 PMID:22116092
RGD:8547820 RGD:8657044
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Nod2
nucleotide binding oligomerization domain containing 2
no_association susceptibility
ISO
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) ClinVar Annotator: match by term: Behcet disease DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
RGD ClinVar
PMID:15515785 PMID:19748964 PMID:28492532
RGD:13204711 RGD:8158059
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Nos3
nitric oxide synthase 3
no_association susceptibility
ISO
DNA:duplication:intron:g.IVS4?-?+27 (human) DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) DNA:snp:cds:p.E298D (human)
RGD
PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880
RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050
NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:15377545
RGD:8547573
NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
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Proz
protein Z, vitamin K dependent plasma glycoprotein
ISO
RGD
PMID:14507116
RGD:1580692
NCBI chrNW_004624793:745,490...757,886
Ensembl chrNW_004624793:745,579...755,059
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Pstpip1
proline-serine-threonine phosphatase interacting protein 1
ISO
ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624894:1,369,242...1,400,765
Ensembl chrNW_004624894:1,368,455...1,400,340
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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 chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990
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Serpine1
serpin family E member 1
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12074830 PMID:18341631
RGD:8547693
NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:polymorphism:intron (human)
RGD
PMID:18998137
RGD:5684936
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:serum (human)
RGD
PMID:12458889
RGD:1580846
NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
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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 chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) DNA:SNP: :rs7574865 (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20438790 PMID:23001997 PMID:23291587
RGD:8661713 RGD:8661718
NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
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Tgfb1
transforming growth factor beta 1
ISO
DNA:polymorphism:promoter:exon (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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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:18336589 PMID:19796535 PMID:23908180 PMID:24255044
RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr3
toll like receptor 3
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:23908180
RGD:8552883
NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196
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Tlr4
toll like receptor 4
susceptibility no_association
ISO
DNA:SNP:3'UTR: rs7037117(human) mRNA:increased expression:mononulcear cell: DNA:polymorphism: :1896A>G,11196C>T(human) mRNA:increased expression:intestine:
RGD
PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535
RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) DNA:SNP:promoter protein:increased expression:serum DNA:SNP:promoter:-308G>A (human) associated with Uveitis;protein:increased expression:aqueous humor:
RGD
PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 PMID:21334264 More...
RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775
NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP: :rs1544410 (human) DNA:SNP:exon:rs2228570 (human)
RGD
PMID:21820934
RGD:8158077
NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum
RGD
PMID:15257411
RGD:8655578
NCBI chrNW_004624754:15,929,414...15,943,637
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Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chrNW_004624796:10,624,672...10,632,300
Ensembl chrNW_004624796:10,623,929...10,632,600
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Vwf
von Willebrand factor
ISO
RGD
PMID:15849757
RGD:1580642
NCBI chrNW_004624860:2,843,268...2,973,888
Ensembl chrNW_004624860:2,858,088...2,973,052
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Il2
interleukin 2
ISO
protein:increased expression:aqueous humor
RGD
PMID:21570674
RGD:5147908
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Nod2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Jabs syndrome DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snp:cds:p.E383G (human) DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human) DNA:snp:cds:p.E383K (human)
OMIM ClinVar RGD
PMID:7825454 PMID:9124059 PMID:9536098 PMID:11385576 PMID:11385577 PMID:11425413 PMID:11528384 PMID:11875755 PMID:11910337 PMID:12019468 PMID:12115249 PMID:12202985 PMID:12512038 PMID:12557156 PMID:12577202 PMID:12626759 PMID:12630966 PMID:12650796 PMID:12673278 PMID:12704363 PMID:14508222 PMID:14522785 PMID:14765395 PMID:15002819 PMID:15024686 PMID:15044951 PMID:15086578 PMID:15190267 PMID:15198989 PMID:15320482 PMID:15459013 PMID:15554080 PMID:15571588 PMID:15620648 PMID:15712650 PMID:15770725 PMID:15812565 PMID:15967635 PMID:15998797 PMID:16010583 PMID:16199547 PMID:16278823 PMID:16416181 PMID:16485124 PMID:16669960 PMID:16804397 PMID:17157607 PMID:17207093 PMID:17301648 PMID:17393391 PMID:17489054 PMID:17576681 PMID:17941079 PMID:17968944 PMID:18056399 PMID:18240302 PMID:18419343 PMID:18489434 PMID:18507017 PMID:18541930 PMID:18718560 PMID:18942754 PMID:18955195 PMID:19103559 PMID:19116920 PMID:19184348 PMID:19184350 PMID:19185283 PMID:19349988 PMID:19397946 PMID:19467619 PMID:19479836 PMID:19479837 PMID:19641059 PMID:19713276 PMID:19748964 PMID:20032092 PMID:20039400 PMID:20047977 PMID:20084402 PMID:20199415 PMID:20230816 PMID:20332463 PMID:20565245 PMID:20713205 PMID:20959815 PMID:21097508 PMID:21274544 PMID:21335489 PMID:21460759 PMID:21548950 PMID:21565239 PMID:21596301 PMID:21745302 PMID:21830272 PMID:21914217 PMID:21951874 PMID:21983784 PMID:21994160 PMID:22275320 PMID:22319155 PMID:22344438 PMID:22377804 PMID:22440928 PMID:22509093 PMID:22543157 PMID:22684479 PMID:22859352 PMID:22926499 PMID:22939045 PMID:22942351 PMID:23102769 PMID:23128233 PMID:23173613 PMID:23334666 PMID:23615072 PMID:23633568 PMID:23709157 PMID:24033266 PMID:24047397 PMID:24345423 PMID:24391456 PMID:24583628 PMID:24586700 PMID:24595243 PMID:24597572 PMID:24713464 PMID:24803813 PMID:24876985 PMID:25093298 PMID:25136265 PMID:25209167 PMID:25365249 PMID:25416713 PMID:25429073 PMID:25741868 PMID:25829188 PMID:26042516 PMID:26070941 PMID:26164256 PMID:26167078 PMID:26316104 PMID:26500656 PMID:26606664 PMID:26768519 PMID:26774591 PMID:27306066 PMID:27339507 PMID:27373512 PMID:27419275 PMID:27625029 PMID:28008999 PMID:28166811 PMID:28422189 PMID:28492532 PMID:28639104 PMID:28658209 PMID:28750667 PMID:28814775 PMID:28836875 PMID:29178652 PMID:29248579 PMID:29321258 PMID:29446656 PMID:29697845 PMID:29795570 PMID:29867916 PMID:30159790 PMID:30166421 PMID:30167848 PMID:30552907 PMID:30553995 PMID:30574935 PMID:30693132 PMID:30783801 PMID:31681265 PMID:32346654 PMID:32463623 PMID:32597225 PMID:32647028 PMID:32707200 PMID:32716958 PMID:33692434 PMID:34251956 PMID:34573280 More...
RGD:8158040 RGD:8158051 RGD:8547515 RGD:8547518
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Col2a1
collagen type II alpha 1 chain
ISO
associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human)
RGD
PMID:18523590
RGD:8657355
NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513
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Ifng
interferon gamma
ISO
RGD
PMID:10227812
RGD:8157614
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
DNA:snp:exon:g.2018T>C (human)
RGD
PMID:17005410
RGD:8549792
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Fas
Fas cell surface death receptor
severity
ISO
associated with Behcet Syndrome;protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human)
RGD
PMID:8814751
RGD:8662442
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:aqueous humor (human)
RGD
PMID:10694897
RGD:8549804
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
mRNA:increased expression:uvea, retina (rat)
RGD
PMID:7928184 PMID:22267332
RGD:8549801 RGD:8551705
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Serpinf1
serpin family F member 1
ISO
protein:decreased expression:retina, plasma (rat)
RGD
PMID:16368716
RGD:1580133
NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
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Thbd
thrombomodulin
treatment
ISO
RGD
PMID:22001200
RGD:11038716
NCBI chrNW_004624741:22,880,481...22,883,962
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
RGD
PMID:11481266 PMID:14528321
RGD:7204514 RGD:7421509
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:iris, ciliary body, aqueous humor
RGD
PMID:16030495
RGD:9479740
NCBI chrNW_004624746:28,677,956...28,688,638
Ensembl chrNW_004624746:28,677,709...28,689,122
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:16030495 PMID:19689733
RGD:9479740 RGD:9491397
NCBI chrNW_004624731:1,705,953...1,719,452
Ensembl chrNW_004624731:1,706,043...1,719,452
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Dll4
delta like canonical Notch ligand 4
disease_progression
ISO
RGD
PMID:31209505
RGD:155791448
NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284
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Fas
Fas cell surface death receptor
susceptibility
ISO
RGD
PMID:11067900
RGD:8662852
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Icam1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:8100190
RGD:8158117
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Il10
interleukin 10
treatment disease_progression
ISO
RGD
PMID:16043105 PMID:18390724 PMID:18495789 PMID:31209505
RGD:155791448 RGD:7365044 RGD:7365052 RGD:7365069
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il17a
interleukin 17A
treatment
ISO
mRNA:increased expression:lymph node (rat)
RGD
PMID:21686325 PMID:23626769 PMID:24117055
RGD:9074484 RGD:9158567 RGD:9173789
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
G
Il1rn
interleukin 1 receptor antagonist
ISO
human protein in mouse model
RGD
PMID:16009838
RGD:8549788
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Mmp1
matrix metallopeptidase 1
onset
ISO
mRNA, protein:increased expression:eye (rat)
RGD
PMID:19755419
RGD:7207388
NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602
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Notch1
notch receptor 1
disease_progression
ISO
RGD
PMID:31209505
RGD:155791448
NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
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Rpe65
retinoid isomerohydrolase RPE65
ISO
human peptides in a rat model
RGD
PMID:16109648
RGD:9585652
NCBI chrNW_004624742:27,302,222...27,319,549
Ensembl chrNW_004624742:27,302,453...27,319,203
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Socs1
suppressor of cytokine signaling 1
ameliorates
ISO
RGD
PMID:24993154
RGD:151232288
NCBI chrNW_004624824:8,444,877...8,446,628
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:22238646
RGD:8694304
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Tlr4
toll like receptor 4
ISO
RGD
PMID:20207969
RGD:7794846
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Ace2
angiotensin converting enzyme 2
treatment
ISO
human gene in a mouse model
RGD
PMID:25228068
RGD:40818264
NCBI chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527
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C3
complement C3
ISO
RGD
PMID:16143328
RGD:7401262
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:15972638
RGD:8547777
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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Cfb
complement factor B
treatment
ISO
RGD
PMID:20806290 PMID:21216963
RGD:7411717 RGD:7411732
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
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Icam1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:7909311
RGD:8547706
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Ifng
interferon gamma
ISO
mRNA,protein:increased expression:eye:
RGD
PMID:1572694
RGD:8142388
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:11359436 PMID:15240742 PMID:21296818 PMID:22629453
RGD:7364830 RGD:7364849 RGD:7365075 RGD:7365084
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il2
interleukin 2
disease_progression
ISO
mRNA:increased expression:uvea:
RGD
PMID:7803357 PMID:7929845
RGD:8662946 RGD:8662951
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
G
Il4
interleukin 4
disease_progression
ISO
mRNA:increased expression:uvea:
RGD
PMID:7803357
RGD:8662946
NCBI chrNW_004624733:39,412,800...39,420,079
G
Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:18424728
RGD:8694299
NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:19635911
RGD:8661744
NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
G
Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:21850175
RGD:7364840
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Tnf
tumor necrosis factor
ISO
DNA:SNPs: :rs361525,rs1800629(human)
RGD
PMID:23378732
RGD:7365041
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:polymorphism: :-318C>T,(AT)16(human)
RGD
PMID:17287608
RGD:7421512
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
Icam1
intercellular adhesion molecule 1
ISO
DNA:SNP:exon:p.R241G (human)
RGD
PMID:20445114
RGD:8547694
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Il1a
interleukin 1 alpha
ISO
associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human)
RGD
PMID:8162643
RGD:7794716
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD
PMID:1625093
RGD:7421584
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Cfb
complement factor B
no_association
ISO
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
RGD
PMID:19001225
RGD:7411728
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
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Cfh
complement factor H
ISO
DNA:SNPs, missense mutation:introns, cds:multiple
RGD
PMID:19001225
RGD:7411728
NCBI chrNW_004624798:3,332,549...3,414,435
G
Cfh
complement factor H
susceptibility
ISO
DNA:SNP:cds:p.Y402H(human)
RGD
PMID:23497844
RGD:7365014
NCBI chrNW_004624798:3,332,549...3,414,435
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Ifng
interferon gamma
ISO
protein:increased expression:iris neuron
RGD
PMID:9797675
RGD:8142379
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il10
interleukin 10
ISO
associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human)
RGD
PMID:21357402
RGD:7364844
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:aqueous humor, vitreous body (rat)
RGD
PMID:19232006
RGD:4889998
NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
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Cfh
complement factor H
susceptibility
ISO
DNA:SNP:cds:p.Y402H(human)
RGD
PMID:23497844
RGD:7365014
NCBI chrNW_004624798:3,332,549...3,414,435
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Cxcl8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:17488320
RGD:39939053
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Il10
interleukin 10
ISO
DNA:SNP:promoter:−1082G>A (human)
RGD
PMID:18436829
RGD:7365046
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il6
interleukin 6
susceptibility
ISO
DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:23336844
RGD:7829805
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:20813859
RGD:6907435
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms:cds:HLA-DQB1*05, HLA-DQB1*0501 (human)
RGD
PMID:12556395
RGD:5147802
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:kidney tubule, serum:
RGD
PMID:17162148
RGD:7246892
NCBI chrNW_004624885:2,339,281...2,343,351
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Ifng
interferon gamma
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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Itgb2
integrin subunit beta 2
ISO
protein:decreased expression:T cell
RGD
PMID:21297967
RGD:6482200
NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human) DNA:snps:promoter:g.-227G>A, g.-189C>A (human)
RGD
PMID:17605936 PMID:19176112
RGD:7421525 RGD:7421581
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human)
RGD
PMID:20438790
RGD:8661713
NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
G
Tnf
tumor necrosis factor
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all