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
Accession: DOID:13241
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; Triple Symptom Complices
primary_id: MESH:D001528
alt_id: OMIM:109650
xref: GARD:848 ; ICD10CM:M35.2 ; ICD9CM:136.1 ; NCI:C34416
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)
RGD
PMID:22705826
RGD:8657073
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21044750
RGD:8694430
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045206
NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
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Cat
catalase
ISO
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830 , PMID:17206395
RGD:9068907
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl2
C-C motif chemokine ligand 2
susceptibility
ISO
DNA:snp:promoter:g.-2518A>G (human) protein:increased expression:plasma (human)
RGD
PMID:19782713 , PMID:12712358
RGD:8548882 , RGD:8549488
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccr1
C-C motif chemokine receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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Ccr5
C-C motif chemokine receptor 5
no_association
ISO
protein:increased expression:blood, T cell (human) DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:15501397 , PMID:15009175 , PMID:17067435
RGD:4892106 , RGD:8551827 , RGD:8551814
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:22116092
RGD:8547820
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cfb
complement factor B
ISO
RGD
PMID:6900632
RGD:7411737
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:15668188
RGD:1598474
NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
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Crp
C-reactive protein
ISO
protein:increased expression:plasma,erythrocyte:
RGD
PMID:12180795
RGD:9491757
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNPs: :1661A>G,49C>A(human)
RGD
PMID:19563524
RGD:7411682
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:SNPs: :4889A>G, 4887C>A (human)
RGD
PMID:15088300
RGD:8552789
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9132327
RGD:8661801
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chr 2:1,410,877...1,449,734
Ensembl chr 2:1,410,934...1,449,733
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F5
coagulation factor V
no_association
ISO
DNA:mutation: :1691G>A (human)
RGD
PMID:15077257
RGD:7394769
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:9836498
RGD:8662438
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Fcgr3a
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:SNP:exon:p.F158V (rs396991)(human)
RGD
PMID:19026120
RGD:5508432
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Hmox1
heme oxygenase 1
ISO
mRNA:decreased expression:mononulcear cell:
RGD
PMID:18234118
RGD:7777175
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Icam1
intercellular adhesion molecule 1
susceptibility no_association
ISO
DNA:polymorphism: :p.K469E (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:p.R241G (human)
CTD
PMID:8712863 PMID:12074830 , PMID:12808331 , PMID:11409120 , PMID:10792421
RGD:8158115 , RGD:8547575 , RGD:8158123
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng
interferon gamma
ISO
associated with Uveitis; protein:increased expression:aqueous humor: protein:increased expression:serum:
RGD
PMID:21334264 , PMID:2154346
RGD:8142356 , RGD:8142377
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
DNA:missense mutation:cds:1217A>T(D406V)(human)
RGD
PMID:20412081
RGD:12791269
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Il10
interleukin 10
disease_progression onset susceptibility treatment
ISO
DNA, protein:hypermethylation, decreased expression:promoter, serum DNA:SNP:promoter:-592A>C (rs1800872) (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:20622878 PMID:20622879 , PMID:15980236 , PMID:26654556 , PMID:29719061 , PMID:29294320 , PMID:21506890
RGD:1598628 , RGD:14975256 , RGD:14975149 , RGD:14975131 , RGD:7364843
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human)
RGD
PMID:21455110
RGD:8698672
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il18
interleukin 18
susceptibility no_association
ISO
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human) DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:14727452 , PMID:15234532 , PMID:21532063 , PMID:16273766 , PMID:17055358
RGD:4889844 , RGD:8655927 , RGD:8655926 , RGD:8655910 , RGD:8655897
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il18r1
interleukin 18 receptor 1
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868
NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
ISO
DNA:polymorphism:promoter (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21724243
RGD:6892926
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP: :rs1884444(human) DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD
PMID:22483685 , PMID:20375120
RGD:8549550 , RGD:8549565
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Il4
interleukin 4
ISO
DNA:polymorphisms:promoter:-33T>C (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
ISO
protein:increased secretion:monocyte:
RGD
PMID:8164212
RGD:7829752
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:12412731
RGD:1582300
NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr 1:198,744,053...198,781,745
Ensembl chr 1:198,744,050...198,781,750
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Mbl2
mannose binding lectin 2
severity susceptibility
ISO
protein:decreased secretion:serum (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:15693089 , PMID:15730518
RGD:1582155 , RGD:1582154
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mefv
MEFV innate immuity regulator, pyrin
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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Mir155
microRNA 155
ISO
miRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:30366049 , PMID:27156371
RGD:21409751 , RGD:25671481
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17949555
RGD:8657044
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:plasma, platelets
RGD
PMID:22116092 , PMID:17949555
RGD:8547820 , RGD:8657044
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:15663505
RGD:8552650
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility no_association
ISO
DNA:snp, insertion:exons:p.R702W, p.L1007insC (human) ClinVar Annotator: match by term: Behcet's syndrome DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)
ClinVar
PMID:28492532 , PMID:19748964 , PMID:15515785
RGD:8158059 , RGD:13204711
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Nos3
nitric oxide synthase 3
susceptibility no_association
ISO
DNA:snp:cds:p.E298D (human) DNA:duplication:intron:g.IVS4?-?+27 (human) DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD
PMID:11908569 , PMID:21957880 , PMID:15705632 , PMID:16463158
RGD:7771576 , RGD:7775050 , RGD:7775048 , RGD:7771577
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:15377545
RGD:8547573
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Proz
protein Z, vitamin K-dependent plasma glycoprotein
ISO
RGD
PMID:14507116
RGD:1580692
NCBI chr16:81,784,348...81,797,889
Ensembl chr16:81,784,348...81,797,815
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Pstpip1
proline-serine-threonine phosphatase-interacting protein 1
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:28492532
NCBI chr 8:60,760,040...60,799,364
Ensembl chr 8:60,760,078...60,799,361
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Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)
RGD
PMID:17660222 , PMID:22396730
RGD:6484733 , RGD:7829745
NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human)
RGD
PMID:23396137
RGD:7483565
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-CE13
RT1 class I, locus CE13
no_association disease_progression
ISO
DNA:polymorphisms:cds:HLA-B*51 (human) severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish) DNA:polymorphisms:cds:HLA-B*15 (human)
RGD
PMID:16101830 , PMID:11426025 , PMID:12622781
RGD:7364873 , RGD:7364939 , RGD:7364918
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :DRB1*0802(human)
RGD
PMID:1358857
RGD:7365104
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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RT1-DMa
RT1 class II, locus DMa
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:3,935,512...3,938,915
Ensembl chr20:5,240,975...5,244,386
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RT1-DMb
RT1 class II, locus DMb
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chr20:3,945,383...3,952,838
Ensembl chr20:5,227,045...5,234,290
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RT1-M5
RT1 class Ib, locus M5
ISO
DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)
RGD
PMID:11426025
RGD:7364939
NCBI chr20:2,038,158...2,040,422
Ensembl chr20:2,038,158...2,040,422
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Serpine1
serpin family E member 1
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830 , PMID:18341631
RGD:8547693
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:polymorphism:intron (human)
RGD
PMID:18998137
RGD:5684936
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:serum (human)
RGD
PMID:12458889
RGD:1580846
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Stat3
signal transducer and activator of transcription 3
no_association
ISO
DNA:SNP: :rs2293152 (human) DNA:SNP: :rs744166, rs2293152 (human)
RGD
PMID:22205606 , PMID:23127549
RGD:6483021 , RGD:8694309
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNP: :rs7574865 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :rs897200, rs7572482, rs7574070 (human)
CTD
PMID:23291587 , PMID:20438790 , PMID:23001997
RGD:8661713 , RGD:8661718
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Tgfb1
transforming growth factor, beta 1
ISO
DNA:polymorphism:promoter:exon (human)
RGD
PMID:21640045
RGD:5147902
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tlr2
toll-like receptor 2
no_association susceptibility
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell mRNA:increased expression:intestine: DNA:polymorphism: :12408G>A(human) DNA:SNPs: : rs2289318,rs3804099(human)
RGD
PMID:23908180 , PMID:18336589 , PMID:19796535 , PMID:24255044
RGD:8552883 , RGD:8552915 , RGD:8552888 , RGD:8552885
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr3
toll-like receptor 3
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:23908180
RGD:8552883
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tlr4
toll-like receptor 4
no_association susceptibility
ISO
mRNA:increased expression:mononulcear cell: mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) DNA:SNP:3'UTR: rs7037117(human)
RGD
PMID:18234118 , PMID:18336589 , PMID:19796535 , PMID:18408113
RGD:7777175 , RGD:8552915 , RGD:8552888 , RGD:7777176
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (human) DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) associated with Uveitis;protein:increased expression:aqueous humor: protein:increased expression:serum
RGD
PMID:20601837 , PMID:12770792 , PMID:15875188 , PMID:12632436 , PMID:21334264 , PMID:14600787
RGD:7394759 , RGD:12904048 , RGD:12904040 , RGD:12904036 , RGD:8142356 , RGD:7401213
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:28492532 , PMID:14600787
RGD:7401213
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP:exon:rs2228570 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:21820934 , PMID:21820934
RGD:8158077 , RGD:8158077
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum
RGD
PMID:15257411
RGD:8655578
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Vwf
von Willebrand factor
ISO
RGD
PMID:15849757
RGD:1580642
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Tnfaip3
TNF alpha induced protein 3
ISO
ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like
ClinVar OMIM
PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532
NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all