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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:panuveitis
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Accession:DOID:12030 term browser browse the term
Definition:An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. (DO)
Synonyms:exact_synonym: diffuse uveitis
 primary_id: MESH:D015864
 xref: GARD:8577;   ICD10CM:H44.11;   ICD9CM:360.12;   NCI:C84989
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
panuveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H susceptibility ISO
ISS
DNA:SNP:cds:p.Y402H(human) MouseDO
RGD
PMID:23497844 RGD:7365014 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G 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
JBrowse link
G Il10 interleukin 10 ISO
ISS
associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human) MouseDO
RGD
PMID:21357402 RGD:7364844 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
Acute Anterior Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G 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
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO
ISS
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)
MouseDO
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
JBrowse link
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
JBrowse link
G 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 JBrowse link
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
JBrowse link
G Cd59 CD59 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
JBrowse link
G Cfb complement factor B no_association ISO
ISS
DNA:SNP: :rs1048709 (human)
DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
MouseDO
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
JBrowse link
G Cfh complement factor H ISO
ISS
DNA:SNP, haplotype: :rs800292 (human) MouseDO
RGD
PMID:22714898 RGD:7411695 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G 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
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO
ISS
human gene in rabbit model MouseDO
RGD
PMID:19693263 RGD:8551704 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G 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
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B27 (human, Thai) RGD PMID:16899524 RGD:7364913 NCBI chr20:3,314,984...3,318,037 JBrowse link
G Tlr2 toll-like receptor 2 ISO
ISS
MouseDO
RGD
PMID:17389503 RGD:8552823 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr4 toll-like receptor 4 ISO
ISS
MouseDO
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
JBrowse link
G Tnf tumor necrosis factor ISO
ISS
DNA:SNP, haplotype:promoter:-857 C>T (human) MouseDO
RGD
PMID:15851552 RGD:8548818 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO
ISS
DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)
OMIM:109650
MouseDO
RGD
PMID:22705826 RGD:8657073 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO
ISS
DNA:deletion:intron:IVS16+1464-1751del (human)
OMIM:109650
MouseDO
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO
ISS
DNA:snp:promoter:g.-2518A>G (human)
OMIM:109650
protein:increased expression:plasma (human)
MouseDO
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
JBrowse link
G 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 JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO
ISS
protein:increased expression:blood, T cell (human)
OMIM:109650
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
MouseDO
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
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO
ISS
DNA:SNPs: :1661A>G,49C>A(human)
OMIM:109650
MouseDO
RGD
PMID:19563524 RGD:7411682 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO
ISS
DNA:SNPs: :4889A>G, 4887C>A (human)
OMIM:109650
MouseDO
RGD
PMID:15088300 RGD:8552789 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G 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
JBrowse link
G Fcgr3a Fc gamma receptor 3A susceptibility ISO
ISS
DNA:SNP:exon:p.F158V (rs396991)(human)
OMIM:109650
MouseDO
RGD
PMID:19026120 RGD:5508432 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO
ISS
DNA:missense mutation:cds:1217A>T(D406V)(human)
OMIM:109650
MouseDO
RGD
PMID:20412081 RGD:12791269 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G Il18 interleukin 18 susceptibility
no_association
ISO
ISS
OMIM:109650
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)
MouseDO
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Il2 interleukin 2 ISO
ISS
DNA:polymorphism:promoter (human)
OMIM:109650
MouseDO
RGD
PMID:21640045 RGD:5147902 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21r interleukin 21 receptor ISO
ISS
OMIM:109650 MouseDO
RGD
PMID:21724243 RGD:6892926 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
JBrowse link
G Il23r interleukin 23 receptor susceptibility ISO
ISS
DNA:SNP: :rs1884444(human)
OMIM:109650
DNA:SNPs,haplotype::rs17375018, rs11209032(human);
MouseDO
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
JBrowse link
G Il4 interleukin 4 ISO
ISS
DNA:polymorphisms:promoter:-33T>C (human)
OMIM:109650
MouseDO
RGD
PMID:21640045 RGD:5147902 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G 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
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO
ISS
OMIM:109650 MouseDO
RGD
PMID:12412731 RGD:1582300 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Mbl2 mannose binding lectin 2 severity
susceptibility
ISO
ISS
protein:decreased secretion:serum (human)
OMIM:109650
DNA:polymorphisms:5' utr, exon:multiple (human)
MouseDO
RGD
PMID:15693089 PMID:15730518 RGD:1582155, RGD:1582154 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:28814775 PMID:31411330 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO
ISS
DNA:polymorphisms: :
OMIM:109650
MouseDO
RGD
PMID:15663505 RGD:8552650 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 susceptibility
no_association
ISO
ISS
DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
OMIM:109650
ClinVar Annotator: match by term: Behcet disease
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
MouseDO
ClinVar
RGD
PMID:28492532 PMID:19748964 PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility
no_association
ISO
ISS
DNA:snp:cds:p.E298D (human)
OMIM:109650
DNA:duplication:intron:g.IVS4?-?+27 (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
MouseDO
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
JBrowse link
G 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
JBrowse link
G Proz protein Z, vitamin K-dependent plasma glycoprotein ISO
ISS
OMIM:109650 MouseDO
RGD
PMID:14507116 RGD:1580692 NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480
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 chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO
ISS
OMIM:109650
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)
MouseDO
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
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO
ISS
DNA:polymorphisms:cds:multiple (human)
OMIM:109650
MouseDO
RGD
PMID:23396137 RGD:7483565 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 no_association
disease_progression
ISO DNA:polymorphisms:cds:HLA-B*51 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
DNA:polymorphisms:cds:HLA-B*15 (human)
RGD PMID:16101830 PMID:11426025 PMID:12622781 RGD:7364873, RGD:7364939, RGD:7364918 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO
ISS
DNA:polymorphism: :DRB1*0802(human)
OMIM:109650
MouseDO
RGD
PMID:1358857 RGD:7365104 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO
ISS
DNA:polymorphism:intron (human)
OMIM:109650
MouseDO
RGD
PMID:18998137 RGD:5684936 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G 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
JBrowse link
G Stat3 signal transducer and activator of transcription 3 no_association ISO
ISS
DNA:SNP: :rs2293152 (human)
OMIM:109650
DNA:SNP: :rs744166, rs2293152 (human)
MouseDO
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
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO DNA:SNP: :rs7574865 (human)
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
RGD 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
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO
ISS
DNA:polymorphism:promoter:exon (human)
OMIM:109650
MouseDO
RGD
PMID:21640045 RGD:5147902 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 no_association
susceptibility
ISO
ISS
protein,mRNA:increased expression:peripheral blood mononuclear cell
OMIM:109650
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)
DNA:SNPs: : rs2289318,rs3804099(human)
MouseDO
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
JBrowse link
G 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
JBrowse link
G Tlr4 toll-like receptor 4 no_association
susceptibility
ISO
ISS
mRNA:increased expression:mononulcear cell:
OMIM:109650
mRNA:increased expression:intestine:
DNA:polymorphism: :1896A>G,11196C>T(human)
DNA:SNP:3'UTR: rs7037117(human)
MouseDO
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
JBrowse link
G Tnf tumor necrosis factor no_association ISO
ISS
OMIM:109650
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
MouseDO
RGD
PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 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
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:14600787 RGD:7401213 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Vdr vitamin D receptor no_association ISO
ISS
DNA:SNP:exon:rs2228570 (human)
OMIM:109650
DNA:SNP: :rs1544410 (human)
MouseDO
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
JBrowse link
G 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
JBrowse link
G Vim vimentin ISO
ISS
OMIM:109650 MouseDO
RGD
PMID:3780056 RGD:6480476 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vwf von Willebrand factor ISO
ISS
OMIM:109650 MouseDO
RGD
PMID:15849757 RGD:1580642 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B12 (human) RGD PMID:3341436 RGD:7365121 NCBI chr20:3,314,984...3,318,037 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
ISS
associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) MouseDO
RGD
PMID:18523590 RGD:8657355 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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 chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
Endotoxin-Induced Uveitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
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
ISS
DNA:polymorphism: :-318C>T,(AT)16(human) MouseDO
RGD
PMID:17287608 RGD:7421512 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO
ISS
DNA:SNP:exon:p.R241G (human) MouseDO
RGD
PMID:20445114 RGD:8547694 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il1a interleukin 1 alpha ISO
ISS
associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) MouseDO
RGD
PMID:8162643 RGD:7794716 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO
ISS
associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) MouseDO
RGD
PMID:1625093 RGD:7421584 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
JBrowse link
G 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
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 IEP mRNA:increased expression:aqueous humor, vitreous body (rat) RGD PMID:19232006 RGD:4889998 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO
ISS
DNA:polymorphism:cds:p.V64I(human) MouseDO
RGD
PMID:17417600 RGD:8551817 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO
ISS
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) MouseDO
RGD
PMID:17417600 RGD:8551817 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cfh complement factor H susceptibility ISO
ISS
DNA:SNP:cds:p.Y402H(human) MouseDO
RGD
PMID:23497844 RGD:7365014 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
sympathetic ophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO
ISS
DNA:polymorphism: :HLA-DRB1*0404(human)
DNA:polymorphism: :HLA-DRB1*04(human)
MouseDO
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
JBrowse link
Toxoplasma Chorioretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
Uveitis, Chronic Anterior 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 chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    sensory system disease 6393
      eye disease 2932
        uveal disease 233
          uveitis 142
            panuveitis 86
              Inflammation of the Whole Uveal Tract 0
              anterior uveitis + 83
              posterior uveitis + 11
              sympathetic ophthalmia 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        sensory system disease 6393
          eye disease 2932
            uveal disease 233
              uveitis 142
                panuveitis 86
                  Inflammation of the Whole Uveal Tract 0
                  anterior uveitis + 83
                  posterior uveitis + 11
                  sympathetic ophthalmia 1
paths to the root