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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:uveitis
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Accession:DOID:13141 term browser browse the term
Definition:An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. (DO)
Synonyms:exact_synonym: uveitides
 primary_id: MESH:D014605
 xref: EFO:1001231;   ICD10CM:H20.9;   NCI:C26909
For additional species annotation, visit the Alliance of Genome Resources.


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uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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 chrNW_004624754:24,403,438...24,423,477
Ensembl chrNW_004624754:24,416,738...24,424,613
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Acute Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
anterior uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cfh complement factor H ISO DNA:SNP, haplotype: :rs800292 (human) RGD PMID:22714898 RGD:7411695 NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
G Ifng interferon gamma ISO RGD PMID:10227812 RGD:8157614 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
autoimmune uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Il4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G LOC101707509 cytochrome P450 1A1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chrNW_004627988:7...1,323 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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 chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733 RGD:7829745 NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)
RGD PMID:22205606 PMID:23127549 RGD:6483021 RGD:8694309 NCBI chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tlr2 toll like receptor 2 no_association
susceptibility
ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
RGD PMID: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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
birdshot chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Blau syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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
JBrowse link
chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
choroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO RGD PMID:10227812 RGD:8157614 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
JBrowse link
Chronic Anterior Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Chronic Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
Endotoxin-Induced Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G 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
JBrowse link
G Thbd thrombomodulin treatment ISO RGD PMID:22001200 RGD:11038716 NCBI chrNW_004624741:22,880,481...22,883,962 JBrowse link
Experimental Autoimmune Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Socs1 suppressor of cytokine signaling 1 ameliorates ISO RGD PMID:24993154 RGD:151232288 NCBI chrNW_004624824:8,444,877...8,446,628 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Experimental Autoimmune Uveoretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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 JBrowse link
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
JBrowse link
G 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
JBrowse link
intermediate uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G 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
JBrowse link
iridocyclitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Multifocal Choroiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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 JBrowse link
panuveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G 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
JBrowse link
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
JBrowse link
posterior uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
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 JBrowse link
Toxoplasma Chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
Tubulointerstitial Nephritis and Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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 JBrowse link
Vogt-Koyanagi-Harada disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    sensory system disease 6215
      eye disease 3170
        uveal disease 204
          uveitis 115
            Acute Uveitis + 4
            Ansell Bywaters Elderking Syndrome 0
            Blau syndrome 1
            Chronic Uveitis 2
            Experimental Autoimmune Uveitis + 23
            Granulomatous Uveitis 0
            Keratouveitis 0
            Tubulointerstitial Nephritis and Uveitis 3
            Vogt-Koyanagi-Harada disease 5
            autoimmune uveitis 1
            intermediate uveitis + 2
            panuveitis + 79
            suppurative uveitis + 0
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      nervous system disease 12060
        Neurologic Manifestations 8859
          sensory system disease 6215
            eye disease 3170
              uveal disease 204
                uveitis 115
                  Acute Uveitis + 4
                  Ansell Bywaters Elderking Syndrome 0
                  Blau syndrome 1
                  Chronic Uveitis 2
                  Experimental Autoimmune Uveitis + 23
                  Granulomatous Uveitis 0
                  Keratouveitis 0
                  Tubulointerstitial Nephritis and Uveitis 3
                  Vogt-Koyanagi-Harada disease 5
                  autoimmune uveitis 1
                  intermediate uveitis + 2
                  panuveitis + 79
                  suppurative uveitis + 0
paths to the root