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
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 .
GViewer not supported for the selected species.
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Ace
angiotensin I converting enzyme
no_association susceptibility
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15045629 PMID:15961928
RGD:7829810 RGD:8142349
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Ada2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619
NCBI chrNW_004624735:10,023,330...10,052,600
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21044750
RGD:8694430
NCBI chrNW_004624730:69,941,963...69,959,266
Ensembl chrNW_004624730:69,941,001...69,957,012
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25045206
NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973
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Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chrNW_004624784:12,249,283...12,251,215
Ensembl chrNW_004624784:12,249,283...12,251,136
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Apob
apolipoprotein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12074830
NCBI chrNW_004624738:3,579,747...3,622,508
Ensembl chrNW_004624738:3,580,033...3,620,192
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Cat
catalase
ISO
protein:decreased activity:erythrocyte: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12074830 PMID:17206395
RGD:9068907
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
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Cd40lg
CD40 ligand
ISO
protein:increased expression:plasma
RGD
PMID:22116092
RGD:8547820
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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Cdk6
cyclin dependent kinase 6
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
NCBI chrNW_004624809:349,453...588,986
Ensembl chrNW_004624809:349,404...579,599
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Cfb
complement factor B
ISO
RGD
PMID:6900632
RGD:7411737
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:15668188
RGD:1598474
NCBI chrNW_004624748:8,850,128...8,927,986
Ensembl chrNW_004624748:8,849,900...8,928,853
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Crp
C-reactive protein
ISO
protein:increased expression:plasma,erythrocyte:
RGD
PMID:12180795
RGD:9491757
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
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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 chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Dhcr7
7-dehydrocholesterol reductase
ISO
associated with uveitis; DNA:SNP:CDS:rs12785878 (human)
RGD
PMID:24184224
RGD:401901083
NCBI chrNW_004624767:16,118,157...16,132,225
Ensembl chrNW_004624767:16,118,052...16,132,834
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:9132327
RGD:8661801
NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chrNW_004624743:15,407,217...15,442,610
Ensembl chrNW_004624743:15,408,485...15,431,967
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F5
coagulation factor V
no_association
ISO
DNA:mutation: :1691G>A (human)
RGD
PMID:15077257
RGD:7394769
NCBI chrNW_004624826:7,438,632...7,507,322
Ensembl chrNW_004624826:7,438,682...7,507,012
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Fas
Fas cell surface death receptor
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:9836498
RGD:8662438
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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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 chrNW_004624826:51,387...59,117
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Hmox1
heme oxygenase 1
ISO
mRNA:decreased expression:mononulcear cell:
RGD
PMID:18234118
RGD:7777175
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
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Icam1
intercellular adhesion molecule 1
no_association susceptibility
ISO
DNA:SNP:exon:p.R241G (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.K469E (human)
RGD CTD
PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331
RGD:8158115 RGD:8158123 RGD:8547575
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
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Ifng
interferon gamma
ISO
associated with Uveitis; protein:increased expression:aqueous humor: protein:increased expression:serum:
RGD
PMID:2154346 PMID:21334264
RGD:8142356 RGD:8142377
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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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 chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379
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Il10
interleukin 10
disease_progression onset susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, serum DNA:SNP:promoter:-592A>C (rs1800872) (human)
RGD CTD
PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 PMID:29294320 PMID:29719061 More...
RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
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Il17a
interleukin 17A
ISO
protein:increased expression:plasma (human)
RGD
PMID:21455110
RGD:8698672
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
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Il18
interleukin 18
susceptibility no_association
ISO
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human) DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
RGD
PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063
RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
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Il18r1
interleukin 18 receptor 1
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868
NCBI chrNW_004624749:6,875,934...6,909,702
Ensembl chrNW_004624749:6,875,750...6,909,734
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Il1b
interleukin 1 beta
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum
RGD
PMID:14600787
RGD:7401213
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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Il2
interleukin 2
ISO
DNA:polymorphism:promoter (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:21724243
RGD:6892926
NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650
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Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP: :rs1884444(human) DNA:SNPs,haplotype::rs17375018, rs11209032(human);
RGD
PMID:20375120 PMID:22483685
RGD:8549550 RGD:8549565
NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109
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Il4
interleukin 4
ISO
DNA:polymorphisms:promoter:-33T>C (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004624733:39,412,800...39,420,079
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Il6
interleukin 6
ISO
protein:increased secretion:monocyte:
RGD
PMID:8164212
RGD:7829752
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
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Irf8
interferon regulatory factor 8
susceptibility
ISO
DNA:Hypermethylation DNA:SNPs,haplotypes: (rs17445836, rs11642873) (human) protein:decreased expression:Peripheral blood mononuclear cells, monocytes (human)
RGD
PMID:26794091 PMID:28592884 PMID:28881647
RGD:329902077 RGD:329902079 RGD:329955373
NCBI chrNW_004624746:2,272,385...2,290,400
Ensembl chrNW_004624746:2,272,389...2,290,455
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Itga2
integrin subunit alpha 2
susceptibility
ISO
RGD
PMID:12412731
RGD:1582300
NCBI chrNW_004624759:6,281,698...6,376,702
Ensembl chrNW_004624759:6,281,561...6,376,712
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Itgal
integrin subunit alpha L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004624782:13,635,217...13,671,401
Ensembl chrNW_004624782:13,640,996...13,669,541
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Itgam
integrin subunit alpha M
ISO
protein:increased expression:neutrophil (human)
RGD
PMID:21719422
RGD:329901843
NCBI chrNW_004624782:14,316,505...14,367,841
Ensembl chrNW_004624782:14,318,499...14,367,922
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8712863
NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611
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LOC101700274
HLA class II histocompatibility antigen, DM alpha chain
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chrNW_004624754:23,752,352...23,765,319
Ensembl chrNW_004624754:23,762,051...23,765,593
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LOC101701356
HLA class II histocompatibility antigen, DM beta chain
no_association
ISO
RGD
PMID:10375868
RGD:1582700
NCBI chrNW_004624754:23,774,013...23,779,851
Ensembl chrNW_004624754:23,773,934...23,779,952
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LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphisms:cds:multiple (human)
RGD
PMID:23396137
RGD:7483565
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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LOC101707509
cytochrome P450 1A1
ISO
DNA:SNPs: :4889A>G, 4887C>A (human)
RGD
PMID:15088300
RGD:8552789
NCBI chrNW_004627988:7...1,323
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LOC101724812
C-C chemokine receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291587
NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726
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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:1582154 RGD:1582155
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
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Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330
NCBI chrNW_004624824:1,035,172...1,047,632
Ensembl chrNW_004624824:1,035,094...1,047,678
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17949555
RGD:8657044
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:plasma, platelets
RGD
PMID:17949555 PMID:22116092
RGD:8547820 RGD:8657044
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Nod2
nucleotide binding oligomerization domain containing 2
no_association susceptibility
ISO
ClinVar Annotator: match by term: Behcet disease DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)
ClinVar RGD
PMID:15515785 PMID:19748964 PMID:28492532
RGD:13204711 RGD:8158059
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
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Nos3
nitric oxide synthase 3
no_association susceptibility
ISO
DNA:snp:cds:p.E298D DNA:duplication:intron:g.IVS4?-?+27 (human) DNA:snp:cds:p.E298D (human) DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD
PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880
RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050
NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:15377545
RGD:8547573
NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
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Proz
protein Z, vitamin K dependent plasma glycoprotein
ISO
RGD
PMID:14507116
RGD:1580692
NCBI chrNW_004624793:745,490...757,886
Ensembl chrNW_004624793:745,579...755,059
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Pstpip1
proline-serine-threonine phosphatase interacting protein 1
ISO
ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624894:1,369,242...1,400,765
Ensembl chrNW_004624894:1,368,455...1,400,340
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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 chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990
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Serpine1
serpin family E member 1
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12074830 PMID:18341631
RGD:8547693
NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337
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Slc11a1
solute carrier family 11 member 1
ISO
DNA:polymorphism:intron (human)
RGD
PMID:18998137
RGD:5684936
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:serum (human)
RGD
PMID:12458889
RGD:1580846
NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
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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 chrNW_004624795:1,648,235...1,680,788
Ensembl chrNW_004624795:1,648,080...1,681,200
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Stat4
signal transducer and activator of transcription 4
ISO
DNA:SNPs: :rs897200, rs7572482, rs7574070 (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :rs7574865 (human)
RGD CTD
PMID:20438790 PMID:23001997 PMID:23291587
RGD:8661713 RGD:8661718
NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
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Tgfb1
transforming growth factor beta 1
ISO
DNA:polymorphism:promoter:exon (human)
RGD
PMID:21640045
RGD:5147902
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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Tlr2
toll like receptor 2
susceptibility no_association
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell DNA:SNPs: : rs2289318,rs3804099(human) DNA:polymorphism: :12408G>A(human) mRNA:increased expression:intestine:
RGD
PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044
RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
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Tlr3
toll like receptor 3
ISO
protein,mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:23908180
RGD:8552883
NCBI chrNW_004624769:16,925,969...16,945,250
Ensembl chrNW_004624769:16,925,984...16,941,196
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Tlr4
toll like receptor 4
susceptibility no_association
ISO
DNA:SNP:3'UTR: rs7037117(human) mRNA:increased expression:intestine: DNA:polymorphism: :1896A>G,11196C>T(human) mRNA:increased expression:mononulcear cell:
RGD
PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535
RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
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Tnf
tumor necrosis factor
no_association
ISO
DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human) DNA:SNP:promoter:-308G>A (human) associated with Uveitis;protein:increased expression:aqueous humor: protein:increased expression:serum
RGD
PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 PMID:21334264 More...
RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Behcet disease
ClinVar
PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775
NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP: :rs1544410 (human) DNA:SNP:exon:rs2228570 (human)
RGD
PMID:21820934
RGD:8158077
NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:serum
RGD
PMID:15257411
RGD:8655578
NCBI chrNW_004624754:15,929,414...15,943,637
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Vim
vimentin
ISO
RGD
PMID:3780056
RGD:6480476
NCBI chrNW_004624796:10,624,672...10,632,300
Ensembl chrNW_004624796:10,623,929...10,632,600
G
Vwf
von Willebrand factor
ISO
RGD
PMID:15849757
RGD:1580642
NCBI chrNW_004624860:2,843,268...2,973,888
Ensembl chrNW_004624860:2,858,088...2,973,052
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all