|
G |
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
|
|
G |
Ifng |
interferon gamma |
|
IEP |
protein:increased expression:iris neuron |
RGD |
PMID:9797675 |
RGD:8142379 |
NCBI chr 7:55,789,180...55,793,216
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
associated with Multifocal Choroiditis;DNA:SNP:intron: (rs2222202) (human) |
RGD |
PMID:21357402 |
RGD:7364844 |
NCBI chr13:45,024,921...45,029,586
|
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
severity |
ISO |
protein:increased expression:aqueous humor (human) |
RGD |
PMID:9426952 |
RGD:8549479 |
NCBI chr10:67,503,077...67,504,875
|
|
|
G |
C2 |
complement C2 |
no_association |
ISO |
DNA:SNP: :rs3020644 (human) |
RGD |
PMID:22714898 |
RGD:7411695 |
NCBI chr20:3,951,474...3,970,376
|
|
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 9:2,174,412...2,201,339
|
|
G |
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 chr10:67,503,077...67,504,875
|
|
G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
IEP |
|
RGD |
PMID:12144807 |
RGD:2303104 |
NCBI chr10:68,948,889...68,950,439
|
|
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
|
|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
IEP |
mRNA:increased expression:iris, ciliary body (rat) |
RGD |
PMID:15790900 |
RGD:4890448 |
NCBI chr 8:132,629,097...132,660,980
|
|
G |
Cd59b |
CD59b molecule |
|
IDA |
mRNA, protein:increased expression:eye |
RGD |
PMID:16751365 |
RGD:1600478 |
NCBI chr 3:110,914,008...110,932,489
|
|
G |
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
|
|
G |
Cfh |
complement factor H |
|
ISO |
DNA:SNP, haplotype: :rs800292 (human) |
RGD |
PMID:22714898 |
RGD:7411695 |
NCBI chr13:51,512,376...51,613,829
|
|
G |
Ifng |
interferon gamma |
|
ISO |
|
RGD |
PMID:10227812 |
RGD:8157614 |
NCBI chr 7:55,789,180...55,793,216
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
human gene in rabbit model |
RGD |
PMID:19693263 |
RGD:8551704 |
NCBI chr 3:27,509,836...27,525,738
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
IEP |
protein:increased expression:eye (rat) |
RGD |
PMID:21976127 |
RGD:5508734 |
NCBI chr10:64,313,335...64,349,221
|
|
G |
RT1-CE13 |
RT1 class I, locus CE13 |
|
ISO |
DNA:polymorphisms:cds:HLA-B27 (human, Thai) |
RGD |
PMID:16899524 |
RGD:7364913 |
NCBI chr20:3,314,491...3,322,815
|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
|
RGD |
PMID:17389503 |
RGD:8552823 |
NCBI chr 2:171,499,189...171,504,831
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:21264236 PMID:17389503 |
RGD:7794836, RGD:8552823 |
NCBI chr 5:85,161,247...85,174,882
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
DNA:SNP, haplotype:promoter:-857 C>T (human) |
RGD |
PMID:15851552 |
RGD:8548818 |
NCBI chr20:3,626,685...3,629,303
|
|
|
G |
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 4:26,312,403...26,488,456
|
|
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 chr10:91,410,129...91,430,246
|
|
G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21044750 |
RGD:8694430 |
NCBI chr11:91,226,524...91,240,244
|
|
G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25045206 |
|
NCBI chr 6:57,961,423...57,998,901
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12074830 |
|
NCBI chr 8:55,423,945...55,425,729
|
|
G |
Apob |
apolipoprotein B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12074830 |
|
NCBI chr 6:36,563,704...36,603,300
|
|
G |
Cat |
catalase |
|
ISO |
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12074830 PMID:17206395 |
RGD:9068907 |
NCBI chr 3:110,297,340...110,329,526
|
|
G |
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 chr10:67,503,077...67,504,875
|
|
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
|
|
G |
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 8:132,629,097...132,660,980
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:22116092 |
RGD:8547820 |
NCBI chr X:140,164,341...140,176,057
|
|
G |
Cdk6 |
cyclin-dependent kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Behcet disease |
ClinVar |
|
|
NCBI chr 4:31,592,384...31,784,732
|
|
G |
Cfb |
complement factor B |
|
ISO |
|
RGD |
PMID:6900632 |
RGD:7411737 |
NCBI chr20:3,970,643...3,976,510
|
|
G |
Cpb2 |
carboxypeptidase B2 |
|
ISO |
|
RGD |
PMID:15668188 |
RGD:1598474 |
NCBI chr15:50,557,722...50,606,569
|
|
G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:plasma,erythrocyte: |
RGD |
PMID:12180795 |
RGD:9491757 |
NCBI chr13:87,694,062...87,695,978
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:SNPs: :1661A>G,49C>A(human) |
RGD |
PMID:19563524 |
RGD:7411682 |
NCBI chr 9:69,812,859...69,819,959
|
|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
DNA:SNPs: :4889A>G, 4887C>A (human) |
RGD |
PMID:15088300 |
RGD:8552789 |
NCBI chr 8:66,991,940...66,998,014
|
|
G |
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
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:9132327 |
RGD:8661801 |
NCBI chr17:22,660,799...22,666,687
|
|
G |
Erap1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23291587 |
|
NCBI chr 2:5,666,337...5,705,256
|
|
G |
F5 |
coagulation factor V |
no_association |
ISO |
DNA:mutation: :1691G>A (human) |
RGD |
PMID:15077257 |
RGD:7394769 |
NCBI chr13:79,046,657...79,116,247
|
|
G |
Fas |
Fas cell surface death receptor |
severity |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:9836498 |
RGD:8662438 |
NCBI chr 1:241,212,155...241,245,774
|
|
G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:SNP:exon:p.F158V (rs396991)(human) |
RGD |
PMID:19026120 |
RGD:5508432 |
NCBI chr13:85,782,636...85,792,656
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
mRNA:decreased expression:mononulcear cell: |
RGD |
PMID:18234118 |
RGD:7777175 |
NCBI chr19:13,452,365...13,479,823
|
|
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 8:27,829,688...27,841,618
|
|
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 7:55,789,180...55,793,216
|
|
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 chr X:157,358,279...157,397,563
|
|
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 PMID:29294320 PMID:21506890 More...
|
RGD:1598628, RGD:14975256, RGD:14975149, RGD:14975131, RGD:7364843 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Il17a |
interleukin 17A |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:21455110 |
RGD:8698672 |
NCBI chr 9:30,640,844...30,644,331
|
|
G |
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 8:59,802,072...59,829,275
|
|
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
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14600787 |
RGD:7401213 |
NCBI chr 3:137,030,200...137,036,581
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14600787 |
RGD:7401213 |
NCBI chr 3:27,509,836...27,525,738
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
DNA:polymorphism:promoter (human) |
RGD |
PMID:21640045 |
RGD:5147902 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
Il21r |
interleukin 21 receptor |
|
ISO |
|
RGD |
PMID:21724243 |
RGD:6892926 |
NCBI chr 1:180,168,028...180,195,690
|
|
G |
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
|
|
G |
Il4 |
interleukin 4 |
|
ISO |
DNA:polymorphisms:promoter:-33T>C (human) |
RGD |
PMID:21640045 |
RGD:5147902 |
NCBI chr10:38,272,003...38,277,549
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased secretion:monocyte: |
RGD |
PMID:8164212 |
RGD:7829752 |
NCBI chr 4:5,889,999...5,894,575
|
|
G |
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
|
|
G |
Itga2 |
integrin subunit alpha 2 |
susceptibility |
ISO |
|
RGD |
PMID:12412731 |
RGD:1582300 |
NCBI chr 2:46,520,345...46,621,487
|
|
G |
Itgal |
integrin subunit alpha L |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8712863 |
|
NCBI chr 1:191,348,424...191,386,228
|
|
G |
Itgam |
integrin subunit alpha M |
|
ISO |
protein:increased expression:neutrophil (human) |
RGD |
PMID:21719422 |
RGD:329901843 |
NCBI chr 1:192,089,496...192,139,947
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8712863 |
|
NCBI chr20:11,061,009...11,097,242
|
|
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:1582155, RGD:1582154 |
NCBI chr 1:237,429,873...237,465,567
|
|
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
|
|
G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:30366049 PMID:27156371 |
RGD:21409751, RGD:25671481 |
NCBI chr11:37,261,114...37,261,178
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
|
RGD |
PMID:17949555 |
RGD:8657044 |
NCBI chr19:30,327,643...30,355,856
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:plasma, platelets |
RGD |
PMID:22116092 PMID:17949555 |
RGD:8547820, RGD:8657044 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:15663505 |
RGD:8552650 |
NCBI chr16:26,974,874...27,005,191
|
|
G |
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 chr19:34,555,832...34,596,281
|
|
G |
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 4:11,686,088...11,706,604
|
|
G |
Pon1 |
paraoxonase 1 |
|
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:15377545 |
RGD:8547573 |
NCBI chr 4:34,261,312...34,292,327
|
|
G |
Proz |
protein Z, vitamin K-dependent plasma glycoprotein |
|
ISO |
|
RGD |
PMID:14507116 |
RGD:1580692 |
NCBI chr16:76,450,013...76,463,558
|
|
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
|
|
G |
Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
no_association |
ISO |
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) |
RGD |
PMID:17660222 PMID:22396730 |
RGD:6484733, RGD:7829745 |
NCBI chr 2:191,366,761...191,414,782
|
|
G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphisms:cds:multiple (human) |
RGD |
PMID:23396137 |
RGD:7483565 |
NCBI chr20:4,598,475...4,604,118
|
|
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 chr20:3,314,491...3,322,815
|
|
G |
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
|
|
G |
RT1-DMa |
RT1 class II, locus DMa |
no_association |
ISO |
|
RGD |
PMID:10375868 |
RGD:1582700 |
NCBI chr20:4,707,028...4,710,432
|
|
G |
RT1-DMb |
RT1 class II, locus DMb |
no_association |
ISO |
|
RGD |
PMID:10375868 |
RGD:1582700 |
NCBI chr20:4,693,102...4,700,340
|
|
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
|
|
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 chr12:25,237,977...25,248,356
|
|
G |
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
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
protein:increased activity:serum (human) |
RGD |
PMID:12458889 |
RGD:1580846 |
NCBI chr11:42,942,742...42,948,399
|
|
G |
Stat3 |
signal transducer and activator of transcription 3 |
no_association |
ISO |
DNA:SNP: :rs2293152 (human) DNA:SNP: :rs744166, rs2293152 (human) |
RGD |
PMID:22205606 PMID:23127549 |
RGD:6483021, RGD:8694309 |
NCBI chr10:86,311,528...86,363,513
|
|
G |
Stat4 |
signal transducer and activator of transcription 4 |
|
ISO |
DNA:SNP: :rs7574865 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) |
CTD RGD |
PMID:23291587 PMID:20438790 PMID:23001997 |
RGD:8661713, RGD:8661718 |
NCBI chr 9:49,472,660...49,588,540
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
DNA:polymorphism:promoter:exon (human) |
RGD |
PMID:21640045 |
RGD:5147902 |
NCBI chr 1:90,324,312...90,340,627
|
|
G |
Tlr2 |
toll-like receptor 2 |
no_association susceptibility |
ISO |
protein,mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:intestine: DNA:polymorphism: :12408G>A(human) DNA:SNPs: : rs2289318,rs3804099(human) |
RGD |
PMID:23908180 PMID:18336589 PMID:19796535 PMID:24255044 |
RGD:8552883, RGD:8552915, RGD:8552888, RGD:8552885 |
NCBI chr 2:171,499,189...171,504,831
|
|
G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
protein,mRNA:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:23908180 |
RGD:8552883 |
NCBI chr16:53,554,916...53,572,321
|
|
G |
Tlr4 |
toll-like receptor 4 |
no_association susceptibility |
ISO |
mRNA:increased expression:mononulcear cell: mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) DNA:SNP:3'UTR: rs7037117(human) |
RGD |
PMID:18234118 PMID:18336589 PMID:19796535 PMID:18408113 |
RGD:7777175, RGD:8552915, RGD:8552888, RGD:7777176 |
NCBI chr 5:85,161,247...85,174,882
|
|
G |
Tnf |
tumor necrosis factor |
no_association |
ISO |
DNA:SNP:promoter:-308G>A (human) DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) associated with Uveitis;protein:increased expression:aqueous humor: protein:increased expression:serum |
RGD |
PMID:20601837 PMID:12770792 PMID:15875188 PMID:12632436 PMID:21334264 PMID:14600787 More...
|
RGD:7394759, RGD:12904048, RGD:12904040, RGD:12904036, RGD:8142356, RGD:7401213 |
NCBI chr20:3,626,685...3,629,303
|
|
G |
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 4:159,837,119...159,849,817
|
|
G |
Vdr |
vitamin D receptor |
no_association |
ISO |
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human) |
RGD |
PMID:21820934 PMID:21820934 |
RGD:8158077, RGD:8158077 |
NCBI chr 7:130,864,764...130,916,757
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15257411 |
RGD:8655578 |
NCBI chr 9:22,452,854...22,468,194
|
|
G |
Vim |
vimentin |
|
ISO |
|
RGD |
PMID:3780056 |
RGD:6480476 |
NCBI chr17:81,577,261...81,585,746
|
|
G |
Vwf |
von Willebrand factor |
|
ISO |
|
RGD |
PMID:15849757 |
RGD:1580642 |
NCBI chr 4:160,042,900...160,177,757
|
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
protein:increased expression:aqueous humor |
RGD |
PMID:21570674 |
RGD:5147908 |
NCBI chr 2:121,932,968...121,937,672
|
|
G |
RT1-CE13 |
RT1 class I, locus CE13 |
|
ISO |
DNA:polymorphisms:cds:HLA-B12 (human) |
RGD |
PMID:3341436 |
RGD:7365121 |
NCBI chr20:3,314,491...3,322,815
|
|
|
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 chr 7:130,977,561...131,006,627
|
|
|
G |
Ifng |
interferon gamma |
|
ISO |
|
RGD |
PMID:10227812 |
RGD:8157614 |
NCBI chr 7:55,789,180...55,793,216
|
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
severity |
ISO |
DNA:snp:exon:g.2018T>C (human) |
RGD |
PMID:17005410 |
RGD:8549792 |
NCBI chr 3:27,509,836...27,525,738
|
|
|
G |
Akr1b1 |
aldo-keto reductase family 1 member B1 |
treatment |
IDA |
|
RGD |
PMID:17898287 |
RGD:8548683 |
NCBI chr 4:63,899,222...63,913,315
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IDA |
|
RGD |
PMID:18087711 |
RGD:2298858 |
NCBI chr10:67,503,077...67,504,875
|
|
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 3:27,509,836...27,525,738
|
|
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
|
|
G |
Thbd |
thrombomodulin |
treatment |
ISO |
|
RGD |
PMID:22001200 |
RGD:11038716 |
NCBI chr 3:156,316,526...156,320,178
|
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:polymorphism: :-318C>T,(AT)16(human) |
RGD |
PMID:17287608 |
RGD:7421512 |
NCBI chr 9:69,812,859...69,819,959
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
DNA:SNP:exon:p.R241G (human) |
RGD |
PMID:20445114 |
RGD:8547694 |
NCBI chr 8:27,829,688...27,841,618
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:8162643 |
RGD:7794716 |
NCBI chr 3:136,979,804...136,990,236
|
|
G |
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 chr20:4,598,475...4,604,118
|
|
|
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
|
|
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
|
|
|
G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IEP |
mRNA:increased expression:aqueous humor, vitreous body (rat) |
RGD |
PMID:19232006 |
RGD:4889998 |
NCBI chr10:68,820,330...68,824,906
|
|
G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
DNA:polymorphism:cds:p.V64I(human) |
RGD |
PMID:17417600 |
RGD:8551817 |
NCBI chr 8:132,611,883...132,619,106
|
|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) |
RGD |
PMID:17417600 |
RGD:8551817 |
NCBI chr 8:132,629,097...132,660,980
|
|
G |
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
|
|
|
G |
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
|
|
|
G |
Il10 |
interleukin 10 |
|
ISO |
DNA:SNP:promoter:−1082G>A (human) |
RGD |
PMID:18436829 |
RGD:7365046 |
NCBI chr13:45,024,921...45,029,586
|
|
G |
Il6 |
interleukin 6 |
susceptibility |
ISO |
DNA:polymorphism:promoter:-174G>C(human) |
RGD |
PMID:23336844 |
RGD:7829805 |
NCBI chr 4:5,889,999...5,894,575
|
|