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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:Behcet's disease
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Accession:DOID:13241 term browser browse the term
Definition:A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. (DO)
Synonyms:exact_synonym: Adamantiades Behcet Disease;   Adamantiades-Behcet Diseases;   BD;   Behcet Disease;   Behcet Syndrome;   Behcet Triple Symptom Complex;   Behcet's Syndrome;   Behcets Syndrome;   Behet's syndrome;   Behçet Disease;   Behçet Diseases;   Old Silk Route Disease;   triple symptom complex
 primary_id: MESH:D001528
 alt_id: MIM:109650
 xref: EFO:0003780;   GARD:848;   ICD10CM:M35.2;   ICD9CM:136.1;   NCI:C34416
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Behcet's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 IAGP DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ACE angiotensin I converting enzyme susceptibility
no_association		 IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15961928 PMID:15045629 RGD:7829810, RGD:8142349 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619 PMID:35241284 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G APOA1 apolipoprotein A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOB apolipoprotein B EXP CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G CAT catalase IEP
EXP		 protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility IAGP
IEP		 DNA:snp:promoter:g.-2518A>G (human)
protein:increased expression:plasma (human)		 RGD PMID:19782713 PMID:12712358 RGD:8548882, RGD:8549488 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association IEP
IAGP		 protein:increased expression:blood, T cell (human)
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)		 RGD PMID:15501397 PMID:17067435 PMID:15009175 RGD:4892106, RGD:8551814, RGD:8551827 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CDK6 cyclin dependent kinase 6 IAGP ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573 		JBrowse link
G CFB complement factor B IEP RGD PMID:6900632 RGD:7411737 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CPB2 carboxypeptidase B2 IEP RGD PMID:15668188 RGD:1598474 NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033 		JBrowse link
G CRP C-reactive protein IEP protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G EDN1 endothelin 1 IEP protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G F5 coagulation factor V no_association IAGP DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FAS Fas cell surface death receptor severity IEP protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FCGR3A Fc gamma receptor IIIa susceptibility IAGP DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G HLA-B major histocompatibility complex, class I, B disease_progression IAGP
EXP		 DNA:polymorphism:cds:HLA-B*51 (human)
DNA:polymorphism:cds:HLA-B*15 (human)
DNA:polymorphism:cds:HLA-B*51 (human, Turkish)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20622878 PMID:23396137 PMID:16101830 PMID:12622781 PMID:11426025 RGD:7364873, RGD:7364918, RGD:7364939 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DMA major histocompatibility complex, class II, DM alpha no_association IAGP RGD PMID:10375868 RGD:1582700 NCBI chr 6:32,948,618...32,953,097
Ensembl chr 6:32,948,613...32,969,094 		JBrowse link
G HLA-DMB major histocompatibility complex, class II, DM beta no_association IAGP RGD PMID:10375868 RGD:1582700 NCBI chr 6:32,934,636...32,941,028
Ensembl chr 6:32,934,629...32,941,028 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:multiple (human) RGD PMID:23396137 RGD:7483565 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphism: :DRB1*0802(human) RGD PMID:1358857 RGD:7365104 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMOX1 heme oxygenase 1 IEP mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 susceptibility
no_association		 IAGP
EXP		 DNA:polymorphism: :p.K469E (human)
DNA:SNP:exon:p.R241G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8712863 PMID:12074830 PMID:12808331 PMID:10792421 PMID:11409120 RGD:8158115, RGD:8158123, RGD:8547575 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IFNG interferon gamma IEP associated with Uveitis; protein:increased expression:aqueous humor:
protein:increased expression:serum:		 RGD PMID:21334264 PMID:2154346 RGD:8142356, RGD:8142377 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP DNA:missense mutation:cds:1217A>T(D406V)(human) RGD PMID:20412081 RGD:12791269 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G IL10 interleukin 10 disease_progression
treatment
susceptibility
onset		 IEP
ISO
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-592A>C (rs1800872) (human)
DNA, protein:hypermethylation, decreased expression:promoter, serum		 CTD
RGD		 PMID:20622878 PMID:20622879 PMID:15980236 PMID:21506890 PMID:29294320 More... RGD:1598628, RGD:7364843, RGD:14975131, RGD:14975149, RGD:14975256 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL17A interleukin 17A IEP protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 susceptibility
no_association		 IEP
IAGP
ISO		 DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)		 RGD PMID:14727452 PMID:17055358 PMID:16273766 PMID:21532063 PMID:15234532 RGD:4889844, RGD:8655897, RGD:8655910, RGD:8655926, RGD:8655927 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL18R1 interleukin 18 receptor 1 IAGP ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777 		JBrowse link
G IL1B interleukin 1 beta IEP protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP protein:increased expression:serum RGD PMID:14600787 RGD:7401213 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL2 interleukin 2 IAGP DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725 		JBrowse link
G IL21R interleukin 21 receptor IMP RGD PMID:21724243 RGD:6892926 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042 		JBrowse link
G IL23R interleukin 23 receptor susceptibility IAGP DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);		 RGD PMID:22483685 PMID:20375120 RGD:8549550, RGD:8549565 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL4 interleukin 4 IAGP DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678 		JBrowse link
G IL6 interleukin 6 IEP protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRF8 interferon regulatory factor 8 susceptibility IAGP
IDA
IEP		 DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human)
DNA:Hypermethylation
protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)		 RGD PMID:26794091 PMID:28881647 PMID:28592884 RGD:329902077, RGD:329902079, RGD:329955373 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility IAGP RGD PMID:12412731 RGD:1582300 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G ITGAL integrin subunit alpha L EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr16:30,472,742...30,523,185
Ensembl chr16:30,472,658...30,523,567 		JBrowse link
G ITGAM integrin subunit alpha M IEP protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G ITGB2 integrin subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,403,059...10,409,757 		JBrowse link
G MBL2 mannose binding lectin 2 susceptibility
severity		 IAGP
IEP		 DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)		 RGD PMID:15730518 PMID:15693089 RGD:1582154, RGD:1582155 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MIR155 microRNA 155 IEP miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:30366049 PMID:27156371 RGD:21409751, RGD:25671481 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP RGD PMID:17949555 RGD:8657044 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 IEP protein:increased expression:plasma, platelets RGD PMID:22116092 PMID:17949555 RGD:8547820, RGD:8657044 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphisms: : RGD PMID:15663505 RGD:8552650 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association		 IAGP DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar Annotator: match by term: Behcet disease		 ClinVar
RGD		 PMID:28492532 PMID:19748964 PMID:15515785 RGD:8158059, RGD:13204711 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association		 IAGP DNA:snp:cds:p.E298D (human)
DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)		 RGD PMID:11908569 PMID:16463158 PMID:15705632 PMID:21957880 RGD:7771576, RGD:7771577, RGD:7775048, RGD:7775050 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PROZ protein Z, vitamin K dependent plasma glycoprotein IDA RGD PMID:14507116 RGD:1580692 NCBI chr13:113,158,648...113,172,386
Ensembl chr13:113,158,648...113,172,386 		JBrowse link
G PSORS1C1 psoriasis susceptibility 1 candidate 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23396137 NCBI chr 6:31,114,800...31,140,092
Ensembl chr 6:31,114,750...31,140,092 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP ClinVar Annotator: match by term: Behcet disease
ClinVar Annotator: match by term: Behcet's syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 no_association IAGP DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human) RGD PMID:17660222 PMID:22396730 RGD:6484733, RGD:7829745 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SERPINE1 serpin family E member 1 IEP
EXP		 protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 IAGP DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894 		JBrowse link
G SOD1 superoxide dismutase 1 IEP protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 no_association IAGP DNA:SNP: :rs2293152 (human)
DNA:SNP: :rs744166, rs2293152 (human)		 RGD PMID:22205606 PMID:23127549 RGD:6483021, RGD:8694309 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP
EXP		 DNA:SNP: :rs7574865 (human)
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23291587 PMID:20438790 PMID:23001997 RGD:8661713, RGD:8661718 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TLR2 toll like receptor 2 susceptibility
no_association		 IEP
IAGP		 protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:SNPs: : rs2289318,rs3804099(human)
DNA:polymorphism: :12408G>A(human)
mRNA:increased expression:intestine:		 RGD PMID:23908180 PMID:24255044 PMID:19796535 PMID:18336589 RGD:8552883, RGD:8552885, RGD:8552888, RGD:8552915 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR3 toll like receptor 3 IEP protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073 		JBrowse link
G TLR4 toll like receptor 4 susceptibility
no_association		 IEP
IAGP		 mRNA:increased expression:mononulcear cell:
DNA:SNP:3'UTR: rs7037117(human)
DNA:polymorphism: :1896A>G,11196C>T(human)
mRNA:increased expression:intestine:		 RGD PMID:18234118 PMID:18408113 PMID:19796535 PMID:18336589 RGD:7777175, RGD:7777176, RGD:8552888, RGD:8552915 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor no_association IMP
IEP
IAGP		 protein:increased expression:serum
associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
DNA:SNP:promoter:-308G>A (human)		 RGD PMID:20601837 PMID:14600787 PMID:21334264 PMID:12632436 PMID:15875188 More... RGD:7394759, RGD:7401213, RGD:8142356, RGD:12904036, RGD:12904040, RGD:12904048 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP
IAGP		 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 chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G VDR vitamin D receptor no_association IAGP DNA:SNP:exon:rs2228570 (human)
DNA:SNP: :rs1544410 (human)		 RGD PMID:21820934 PMID:21820934 RGD:8158077, RGD:8158077 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A IEP protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G VIM vimentin IDA RGD PMID:3780056 RGD:6480476 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G VWF von Willebrand factor IDA RGD PMID:15849757 RGD:1580642 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 110354
    sensory system disease 23735
      mouth disease 3089
        Behcet's disease 156
Path 2
Term Annotations click to browse term
  disease 110354
    disease of anatomical entity 101301
      nervous system disease 53560
        Neurologic Manifestations 34821
          sensory system disease 23735
            eye disease 8582
              uveal disease 511
                uveitis 259
                  panuveitis 205
                    anterior uveitis 201
                      Behcet's disease 156
paths to the root