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.
G
Ace
angiotensin I converting enzyme
ISO
Chronic Granulomatous Uveitis;protein:increased expression:serum (human)
RGD
PMID:229083
RGD:8142348
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Anxa1
annexin A1
treatment
IDA IEP ISO
RGD
PMID:23645879 PMID:21633711 PMID:23645879
RGD:7421538 , RGD:7421539 , RGD:7421538
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Aoc3
amine oxidase, copper containing 3
IMP
RGD
PMID:18032635
RGD:2313914
NCBI chr10:86,272,757...86,280,702
G
Aqp1
aquaporin 1
IEP
RGD
PMID:20383338
RGD:5148029
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Aqp4
aquaporin 4
IEP
protein:decreased expression:retina
RGD
PMID:20383338 PMID:21724913
RGD:5148029 , RGD:5490118
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Arg1
arginase 1
IEP
mRNA, protein:increased expression:eye (rat)
RGD
PMID:12470967
RGD:631755
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Ass1
argininosuccinate synthase 1
IEP
mRNA, protein:increased expression:eye (rat)
RGD
PMID:12470967
RGD:631755
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
G
Calb2
calbindin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012
NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
G
Ccl2
C-C motif chemokine ligand 2
IEP ISO
protein:increased expression:aqueous humor protein:increased expression:aqueous humor (human)
RGD
PMID:16698015 PMID:17591667
RGD:8549475 , RGD:8549485
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
IEP
mRNA, protein:increased expression:conjunctiva, ciliary body
RGD
PMID:19104678
RGD:2306302
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccr5
C-C motif chemokine receptor 5
IEP
mRNA, protein:increased expression:conjunctiva, ciliary body
RGD
PMID:19104678
RGD:2306302
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd163
CD163 molecule
IEP
associated with Endotoxemia;protein:increased expression:iris (rat)
RGD
PMID:19347047
RGD:2312506
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cryaa
crystallin, alpha A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012 PMID:21850155
NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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Crybb2
crystallin, beta B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012 PMID:21850155
NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671
G
Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
associated with Endotoxemia;mRNA, protein:increased expression:retina
RGD
PMID:19648777
RGD:4891945
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
G
Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
associated with Endotoxemia;mRNA, protein:increased expression:retina
RGD
PMID:19648777
RGD:4891945
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Cxcl10
C-X-C motif chemokine ligand 10
IEP
RGD
PMID:16505038
RGD:2311384
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Gc
GC, vitamin D binding protein
susceptibility
ISO
associated with Spondylitis, Ankylosing;DNA:SNP: :rs4752(human)
RGD
PMID:21844150
RGD:5509918
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:15699169
RGD:5508475
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
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 chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21850155
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
G
Icam1
intercellular adhesion molecule 1
treatment
IDA ISO
protein:altered expression:serum, vitreous humor
RGD
PMID:7641842 PMID:9640197
RGD:8158119 , RGD:8547585
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Icos
inducible T-cell co-stimulator
IEP
protein:increased expression:spleen, lymph node, retina
RGD
PMID:16601981
RGD:1624269
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
G
Ifng
interferon gamma
treatment
ISO
associated with Behcet's disease protein:increased expression:aqueous humor,serum
RGD
PMID:15875359 PMID:29534057 PMID:10865312 PMID:15875359
RGD:8142394 , RGD:14974251 , RGD:7365086 , RGD:8142394
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifngr1
interferon gamma receptor 1
ISO
associated with Behcet's disease
RGD
PMID:29534057
RGD:14974251
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Il10
interleukin 10
ISO
DNA:SNPs, haplotypes:promoter, :rs2222202, rs3024490, rs6703630 (human) protein:increased expression:serum
RGD
PMID:20335604 PMID:10865312
RGD:7364845 , RGD:7365086
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il13
interleukin 13
treatment
ISO
RGD
PMID:17392164 PMID:11481267
RGD:4145496 , RGD:8549551
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il17a
interleukin 17A
IMP ISO
associated with Behcet Syndrome;protein:increased expression:serum (human)
RGD
PMID:19373578 PMID:23101722
RGD:4888523 , RGD:9068441
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
treatment
IEP
RGD
PMID:22562515
RGD:8655982
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1a
interleukin 1 alpha
IEP
RGD
PMID:8125721
RGD:7401166
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
IEP ISO
RGD
PMID:8125721 PMID:1318867
RGD:7401166 , RGD:7401178
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il2
interleukin 2
ISO
protein:increased expression:aqueous humor,serum
RGD
PMID:10865312
RGD:7365086
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21r
interleukin 21 receptor
ISO
mRNA, protein:increased expression:lymph node, spleen
RGD
PMID:21593413 PMID:20057909
RGD:6892928 , RGD:6892932
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
G
Il23r
interleukin 23 receptor
susceptibility
ISO
associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human)
RGD
PMID:21846945
RGD:8549545
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
G
Il6
interleukin 6
ISO IEP
associated with Behcet Syndrome;protein:increased expression:serum: protein:increased expression:eye protein:increased expression:aqueous humor:
RGD
PMID:15209464 PMID:1544781 PMID:1544781 PMID:10420202
RGD:7387294 , RGD:7829806 , RGD:7829806 , RGD:7829723
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
ISO
protein:increased expression:aqueous humor:
RGD
PMID:10420202
RGD:7829723
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
IEP
mRNA, protein:decreased expression:retina
RGD
PMID:17356517
RGD:8662881
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
G
Lcn2
lipocalin 2
IEP
protein:increased expression:retina, M��ller cell
RGD
PMID:29590655
RGD:126781759
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:21296813
RGD:5508729
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Nos2
nitric oxide synthase 2
ISO
protein:increased expression:eye (mouse)
RGD
PMID:21911582
RGD:5509582
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP
mRNA:decreased expression:retina (rat) mRNA, protein:decreased expression:ciliary body, iris
RGD
PMID:21724913 PMID:23152847
RGD:5490118 , RGD:7174735
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
G
Rbp3
retinol binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21850155
NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
G
Rela
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:uvea
RGD
PMID:18087711
RGD:2298858
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
RT1-Ba
RT1 class II, locus Ba
IMP
associated with Encephalomyelitis, Autoimmune, Experimental
RGD
PMID:16723470
RGD:5147639
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
IMP
associated with Encephalomyelitis, Autoimmune, Experimental
RGD
PMID:16723470
RGD:5147639
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-CE13
RT1 class I, locus CE13
onset treatment
ISO
associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B*51 (human) associated with Inflammatory Bowel Diseases; DNA:polymorphisms:cds:HLA-B*27, HLA-B*58 (human)
RGD
PMID:23831258 PMID:9232451 PMID:12198697
RGD:7364788 , RGD:7364942 , RGD:7364926
NCBI chr20:3,314,830...3,318,106
G
RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
associated with Behcet's disease; DNA:polymorphism:HLA-A*2601
RGD
PMID:20868569
RGD:401827143
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated Arthritis, Juvenile;DNA:polymorphism: :HLA-DRB1*13(human) associated with Inflammatory Bowel Diseases;DNA:polymorphism: :HLA-DRB1*0103(human)
RGD
PMID:16495319 PMID:12198697
RGD:7365070 , RGD:7364926
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Sag
S-antigen visual arrestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8407215
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
G
Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
IEP
mRNA:increased expression:iris,retina
RGD
PMID:11581179
RGD:5147410
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
G
Serpinf1
serpin family F member 1
treatment
ISO
protein:increased expression:aqueous humor (human) CTD Direct Evidence: therapeutic associated with Keratitis; human protein in a rat model
CTD RGD
PMID:19553628 PMID:16973658 PMID:19553628
RGD:8554887 , RGD:8554902
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Sncb
synuclein, beta
IDA
RGD
PMID:12496452
RGD:730073
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578012 PMID:21850155
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:9008650
RGD:7394815
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tjp1
tight junction protein 1
IEP
protein:decreased expression, altered localization: corneal endothelium
RGD
PMID:18587491
RGD:2325139
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
G
Tlr4
toll-like receptor 4
IEP
protein:increased expression:iris
RGD
PMID:19347047
RGD:2312506
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
treatment disease_progression
ISO IEP
associated with Behcet Syndrome; protein:increased expression:serum: protein:increased expression:serum,Aqueous Humor:
RGD
PMID:15209464 PMID:19440225 PMID:1318867 PMID:8125721 PMID:11586057 PMID:20673052 More...
RGD:7387294 , RGD:13825264 , RGD:7401178 , RGD:7401166 , RGD:7394806 , RGD:7394761
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
treatment
IMP ISO
protein:increased expression:serum
RGD
PMID:12824249 PMID:19440225 PMID:15746567
RGD:5131249 , RGD:13825264 , RGD:8661746
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Vip
vasoactive intestinal peptide
IDA
RGD
PMID:19232006
RGD:4889998
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
protein:increased expression:aqueous humor (human)
RGD
PMID:9426952
RGD:8549479
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Crp
C-reactive protein
IEP ISO
protein:increased expression:plasma: protein:increased expression:serum:
RGD
PMID:24697218 PMID:11914210
RGD:9491782 , RGD:9491833
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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C2
complement C2
no_association
ISO
DNA:SNP: :rs3020644 (human)
RGD
PMID:22714898
RGD:7411695
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
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C3
complement C3
IEP ISO
protein:increased expression:eye anterior chamber, ciliary body, iris
RGD
PMID:16751365 PMID:6610667
RGD:1600478 , RGD:7411736
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO IEP
DNA:snp:promoter:g.-2518A>G (human) DNA:polymorphism:promoter:rs1024610 (human) associated with Encephalomyelitis, Autoimmune, Experimental;mRNA, protein:increased expression:iris, ciliary body, lumbar spinal cord (rat)
RGD
PMID:16280979 PMID:16950632 PMID:9404715
RGD:8548843 , RGD:8661673 , RGD:8549473
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl3
C-C motif chemokine ligand 3
IEP
RGD
PMID:12144807
RGD:2303104
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccr1
C-C motif chemokine receptor 1
IEP
associated with Encephalomyelitis, Autoimmune, Experimental
RGD
PMID:11687534
RGD:5688173
NCBI chr 8:123,556,286...123,561,841
G
Ccr5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:iris, ciliary body (rat)
RGD
PMID:15790900
RGD:4890448
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd59b
CD59b molecule
IDA
mRNA, protein:increased expression:eye
RGD
PMID:16751365
RGD:1600478
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Cfb
complement factor B
no_association
ISO
DNA:SNP: :rs1048709 (human) DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
RGD
PMID:22714898 PMID:6610667 PMID:22714898
RGD:7411695 , RGD:7411736 , RGD:7411695
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfh
complement factor H
ISO
DNA:SNP, haplotype: :rs800292 (human)
RGD
PMID:22714898
RGD:7411695
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Ifng
interferon gamma
ISO
RGD
PMID:10227812
RGD:8157614
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il1rn
interleukin 1 receptor antagonist
ISO
human gene in rabbit model
RGD
PMID:19693263
RGD:8551704
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Nos2
nitric oxide synthase 2
IEP
protein:increased expression:eye (rat)
RGD
PMID:21976127
RGD:5508734
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B27 (human, Thai)
RGD
PMID:16899524
RGD:7364913
NCBI chr20:3,314,830...3,318,106
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:17389503
RGD:8552823
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:21264236 PMID:17389503
RGD:7794836 , RGD:8552823
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
ISO
DNA:SNP, haplotype:promoter:-857 C>T (human)
RGD
PMID:15851552
RGD:8548818
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:31228813
RGD:41404699
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Ace
angiotensin I converting enzyme
susceptibility no_association
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15961928 PMID:15045629
RGD:7829810 , RGD:8142349
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21044750
RGD:8694430
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045206
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Cat
catalase
ISO
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12074830 PMID:17206395
RGD:9068907
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr1
C-C motif chemokine receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 8:123,556,286...123,561,841
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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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:22116092
RGD:8547820
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdk6
cyclin-dependent kinase 6
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cfb
complement factor B
ISO
RGD
PMID:6900632
RGD:7411737
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:15668188
RGD:1598474
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Crp
C-reactive protein
ISO
protein:increased expression:plasma,erythrocyte:
RGD
PMID:12180795
RGD:9491757
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dhcr7
7-dehydrocholesterol reductase
ISO
associated with uveitis; DNA:SNP:CDS:rs12785878 (human)
RGD
PMID:24184224
RGD:401901083
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9132327
RGD:8661801
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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F5
coagulation factor V
no_association
ISO
DNA:mutation: :1691G>A (human)
RGD
PMID:15077257
RGD:7394769
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:9836498
RGD:8662438
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fcgr3a
Fc gamma receptor 3A
susceptibility
ISO
DNA:SNP:exon:p.F158V (rs396991)(human)
RGD
PMID:19026120
RGD:5508432
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Hmox1
heme oxygenase 1
ISO
mRNA:decreased expression:mononulcear cell:
RGD
PMID:18234118
RGD:7777175
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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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 RGD
PMID:8712863 PMID:12074830 PMID:12808331 PMID:11409120 PMID:10792421
RGD:8158115 , RGD:8547575 , RGD:8158123
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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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 RGD
PMID:20622878 PMID:20622879 PMID:15980236 PMID:26654556 PMID:29719061 PMID:29294320 PMID:21506890 More...
RGD:1598628 , RGD:14975256 , RGD:14975149 , RGD:14975131 , RGD:7364843
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human)
RGD
PMID:21455110
RGD:8698672
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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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 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18r1
interleukin 18 receptor 1
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il2
interleukin 2
ISO
DNA:polymorphism:promoter (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21724243
RGD:6892926
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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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 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il4
interleukin 4
ISO
DNA:polymorphisms:promoter:-33T>C (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
protein:increased secretion:monocyte:
RGD
PMID:8164212
RGD:7829752
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irf8
interferon regulatory factor 8
susceptibility
ISO
DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human) protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human) DNA:Hypermethylation
RGD
PMID:26794091 PMID:28592884 PMID:28881647
RGD:329902077 , RGD:329955373 , RGD:329902079
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:12412731
RGD:1582300
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
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Itgam
integrin subunit alpha M
ISO
protein:increased expression:neutrophil (human)
RGD
PMID:21719422
RGD:329901843
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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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 1:228,016,439...228,024,736
G
Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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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 chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17949555
RGD:8657044
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:15663505
RGD:8552650
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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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 disease DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar RGD
PMID:28492532 PMID:19748964 PMID:15515785
RGD:8158059 , RGD:13204711
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:15377545
RGD:8547573
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Proz
protein Z, vitamin K-dependent plasma glycoprotein
ISO
RGD
PMID:14507116
RGD:1580692
NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
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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 chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)
RGD
PMID:17660222 PMID:22396730
RGD:6484733 , RGD:7829745
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human)
RGD
PMID:23396137
RGD:7483565
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13
RT1 class I, locus CE13
no_association disease_progression
ISO
DNA:polymorphisms:cds:HLA-B*51 (human) severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) DNA:polymorphisms:cds:HLA-B*15 (human)
RGD
PMID:16101830 PMID:11426025 PMID:12622781
RGD:7364873 , RGD:7364939 , RGD:7364918
NCBI chr20:3,314,830...3,318,106
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :DRB1*0802(human)
RGD
PMID:1358857
RGD:7365104
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-DMa
RT1 class II, locus DMa
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:4,707,028...4,710,432
Ensembl chr20:4,707,028...4,710,432
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RT1-DMb
RT1 class II, locus DMb
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:4,693,102...4,700,340
Ensembl chr20:4,693,103...4,700,340
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RT1-M5
RT1 class Ib, locus M5
ISO
DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
RGD
PMID:11426025
RGD:7364939
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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Serpine1
serpin family E member 1
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12074830 PMID:18341631
RGD:8547693
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:polymorphism:intron (human)
RGD
PMID:18998137
RGD:5684936
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:serum (human)
RGD
PMID:12458889
RGD:1580846
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Stat3
signal transducer and activator of transcription 3
no_association
ISO
DNA:SNP: :rs2293152 (human) DNA:SNP: :rs744166, rs2293152 (human)
RGD
PMID:22205606 PMID:23127549
RGD:6483021 , RGD:8694309
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD RGD
PMID:23291587 PMID:20438790 PMID:23001997
RGD:8661713 , RGD:8661718
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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Tgfb1
transforming growth factor, beta 1
ISO
DNA:polymorphism:promoter:exon (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
no_association susceptibility
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:intestine: DNA:polymorphism: :12408G>A(human) DNA:SNPs: : rs2289318,rs3804099(human)
RGD
PMID:23908180 PMID:18336589 PMID:19796535 PMID:24255044
RGD:8552883 , RGD:8552915 , RGD:8552888 , RGD:8552885
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:23908180
RGD:8552883
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
no_association susceptibility
ISO
mRNA:increased expression:mononulcear cell: mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) DNA:SNP:3'UTR: rs7037117(human)
RGD
PMID:18234118 PMID:18336589 PMID:19796535 PMID:18408113
RGD:7777175 , RGD:8552915 , RGD:8552888 , RGD:7777176
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (human) DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) associated with Uveitis;protein:increased expression:aqueous humor: protein:increased expression:serum
RGD
PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 PMID:14600787 More...
RGD:7394759 , RGD:12904048 , RGD:12904040 , RGD:12904036 , RGD:8142356 , RGD:7401213
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum ClinVar Annotator: match by term: Behcet disease
ClinVar RGD
PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787
RGD:7401213
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934 PMID:21820934
RGD:8158077 , RGD:8158077
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum
RGD
PMID:15257411
RGD:8655578
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Vwf
von Willebrand factor
ISO
RGD
PMID:15849757
RGD:1580642
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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Il2
interleukin 2
ISO
protein:increased expression:aqueous humor
RGD
PMID:21570674
RGD:5147908
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B12 (human)
RGD
PMID:3341436
RGD:7365121
NCBI chr20:3,314,830...3,318,106
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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 CTD Direct Evidence: marker/mechanism DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human) DNA:snp:cds:p.E383K (human) DNA:snp:cds:p.E383G (human) DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)
OMIM ClinVar CTD 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 PMID:19479837 PMID:15812565 PMID:19116920 PMID:11528384 More...
RGD:8547518 , RGD:8547515 , RGD:8158051 , RGD:8158040
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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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 chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Ifng
interferon gamma
ISO
RGD
PMID:10227812
RGD:8157614
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il1rn
interleukin 1 receptor antagonist
severity
ISO
DNA:snp:exon:g.2018T>C (human)
RGD
PMID:17005410
RGD:8549792
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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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 chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:aqueous humor (human)
RGD
PMID:10694897
RGD:8549804
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Akr1b1
aldo-keto reductase family 1 member B1
treatment
IDA
RGD
PMID:17898287
RGD:8548683
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:18087711
RGD:2298858
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO IEP
mRNA:increased expression:uvea, retina (rat)
RGD
PMID:22267332 PMID:7928184
RGD:8549801 , RGD:8551705
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Serpinf1
serpin family F member 1
IEP
protein:decreased expression:retina, plasma (rat)
RGD
PMID:16368716
RGD:1580133
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Thbd
thrombomodulin
treatment
ISO
RGD
PMID:22001200
RGD:11038716
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Ccl2
C-C motif chemokine ligand 2
IEP
mRNA:increased expression:iris, ciliary body, popliteal lymph nodes (rat)
RGD
PMID:15109911
RGD:8549495
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
no_association
ISO
RGD
PMID:24736166 PMID:19357362
RGD:8657357 , RGD:8657383
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
RGD
PMID:14528321 PMID:11481266
RGD:7204514 , RGD:7421509
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
mRNA, protein:increased expression:iris, ciliary body, aqueous humor
RGD
PMID:16030495
RGD:9479740
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP ISO
RGD
PMID:16030495 PMID:19689733
RGD:9479740 , RGD:9491397
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Dll4
delta like canonical Notch ligand 4
disease_progression
IEP
RGD
PMID:31209505
RGD:155791448
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Fas
Fas cell surface death receptor
susceptibility
ISO
RGD
PMID:11067900
RGD:8662852
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Icam1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:8100190
RGD:8158117
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10
interleukin 10
treatment disease_progression
ISO IEP
RGD
PMID:18495789 PMID:31209505 PMID:16043105 PMID:18390724
RGD:7365044 , RGD:155791448 , RGD:7365069 , RGD:7365052
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
treatment
IMP IDA IEP
mRNA:increased expression:lymph node (rat)
RGD
PMID:24117055 PMID:23626769 PMID:21686325
RGD:9074484 , RGD:9173789 , RGD:9158567
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1rn
interleukin 1 receptor antagonist
ISO
human protein in mouse model
RGD
PMID:16009838
RGD:8549788
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Mmp1
matrix metallopeptidase 1
onset
IEP
mRNA, protein:increased expression:eye (rat)
RGD
PMID:19755419
RGD:7207388
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Notch1
notch receptor 1
disease_progression
IEP
RGD
PMID:31209505
RGD:155791448
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Rpe65
retinoid isomerohydrolase RPE65
ISO
human peptides in a rat model
RGD
PMID:16109648
RGD:9585652
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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RT1-CE13
RT1 class I, locus CE13
treatment
ISO
human HLA-B27 peptide in rat model human peptide in rat model; HLA-B27
RGD
PMID:15681796 PMID:9232451
RGD:7364916 , RGD:7364942
NCBI chr20:3,314,830...3,318,106
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Socs1
suppressor of cytokine signaling 1
ameliorates
ISO
RGD
PMID:24993154
RGD:151232288
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
RGD
PMID:22238646
RGD:8694304
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tlr4
toll-like receptor 4
ISO
RGD
PMID:20207969
RGD:7794846
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Ace2
angiotensin converting enzyme 2
treatment
ISO
human gene in a mouse model
RGD
PMID:25228068
RGD:40818264
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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C3
complement C3
ISO
RGD
PMID:16143328
RGD:7401262
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:eye:
RGD
PMID:12605265
RGD:8661671
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:eye:
RGD
PMID:12605265
RGD:8661671
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:15972638
RGD:8547777
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cfb
complement factor B
treatment
ISO IMP
RGD
PMID:20806290 PMID:21216963
RGD:7411717 , RGD:7411732
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Icam1
intercellular adhesion molecule 1
treatment
IMP
RGD
PMID:7909311
RGD:8547706
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
IEP
mRNA,protein:increased expression:eye:
RGD
PMID:1572694
RGD:8142388
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
treatment
ISO IDA
RGD
PMID:22629453 PMID:11359436 PMID:15240742 PMID:21296818
RGD:7364830 , RGD:7365084 , RGD:7365075 , RGD:7364849
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2
interleukin 2
disease_progression
ISO IEP
mRNA:increased expression:uvea:
RGD
PMID:7929845 PMID:7803357
RGD:8662951 , RGD:8662946
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
disease_progression
IEP
mRNA:increased expression:uvea:
RGD
PMID:7803357
RGD:8662946
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:18424728
RGD:8694299
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:19635911
RGD:8661744
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism:cds:p.V64I(human)
RGD
PMID:17417600
RGD:8551817
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Il10
interleukin 10
ISO
protein:increased expression:aqueous humor
RGD
PMID:21850175
RGD:7364840
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Tnf
tumor necrosis factor
ISO
DNA:SNPs: :rs361525,rs1800629(human)
RGD
PMID:23378732
RGD:7365041
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Icam1
intercellular adhesion molecule 1
ISO
DNA:SNP:exon:p.R241G (human)
RGD
PMID:20445114
RGD:8547694
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD
PMID:1625093
RGD:7421584
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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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 chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cfh
complement factor H
ISO
DNA:SNPs, missense mutation:introns, cds:multiple
RGD
PMID:19001225
RGD:7411728
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Cfh
complement factor H
susceptibility
ISO
DNA:SNP:cds:p.Y402H(human)
RGD
PMID:23497844
RGD:7365014
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Ifng
interferon gamma
IEP
protein:increased expression:iris neuron
RGD
PMID:9797675
RGD:8142379
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
ISO
associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human)
RGD
PMID:21357402
RGD:7364844
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Ccl5
C-C motif chemokine ligand 5
IEP
mRNA:increased expression:aqueous humor, vitreous body (rat)
RGD
PMID:19232006
RGD:4889998
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Ccr2
C-C motif chemokine receptor 2
ISO
DNA:polymorphism:cds:p.V64I(human)
RGD
PMID:17417600
RGD:8551817
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:17417600
RGD:8551817
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cfh
complement factor H
susceptibility
ISO
DNA:SNP:cds:p.Y402H(human)
RGD
PMID:23497844
RGD:7365014
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*0404(human) DNA:polymorphism: :HLA-DRB1*04(human)
RGD
PMID:11222331 PMID:9062965
RGD:7365091 , RGD:7365100
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Il10
interleukin 10
ISO
DNA:SNP:promoter:−1082G>A (human)
RGD
PMID:18436829
RGD:7365046
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il6
interleukin 6
susceptibility
ISO
DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:23336844
RGD:7829805
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:20813859
RGD:6907435
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:kidney tubule, serum:
RGD
PMID:17162148
RGD:7246892
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism (human)
RGD
PMID:12556395
RGD:5147802
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms:cds:HLA-DQB1*05, HLA-DQB1*0501 (human)
RGD
PMID:12556395
RGD:5147802
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:12556395
RGD:5147802
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Ifng
interferon gamma
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Itgb2
integrin subunit beta 2
ISO
protein:decreased expression:T cell
RGD
PMID:21297967
RGD:6482200
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: : HLA-DQA1*0301
RGD
PMID:11835809
RGD:8547565
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism: :HLA-DRB1*0405(human) DNA:polymorphisms: :HLA-DRB1*0405, HLA-DRB1*0410(human) DNA:polymorphisms (human)
RGD
PMID:15603876 PMID:9548078 PMID:20216938 PMID:10527396
RGD:5147653 , RGD:7365099 , RGD:7365067 , RGD:5147857
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human)
RGD
PMID:20438790
RGD:8661713
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tnf
tumor necrosis factor
ISO
associated with uveitis;protein:increased expression:aqueous humor:
RGD
PMID:21334264
RGD:8142356
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all