Behcet's disease - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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	go back to main search page
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.

show annotations for term's descendants Sort by:
Rat (76) Mouse (79) Human (273) Chinchilla (66) Bonobo (77) Dog (75) Squirrel (67) Pig (72) Green Monkey (71) Naked Mole-rat (70) All
Genes (76)

Behcet's disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

DNA:missense mutation, snps, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)

RGD

NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709

G

angiotensin I converting enzyme

susceptibility
no_association

DNA:deletion:intron:IVS16+1464-1751del (human)

RGD

PMID:15961928 PMID:15045629

RGD:7829810, RGD:8142349

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568

G

apolipoprotein A1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein B

CTD Direct Evidence: marker/mechanism

NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497

G

catalase

protein:decreased activity:erythrocyte:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12074830 PMID:17206395

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

susceptibility

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
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:132,433,711...132,439,266

G

C-C motif chemokine receptor 5

no_association

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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260

G

CD40 ligand

protein:increased expression:plasma

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

cyclin-dependent kinase 6

ClinVar Annotator: match by term: Behcet disease

NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634

G

complement factor B

RGD

NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505

G

carboxypeptidase B2

RGD

NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556

G

C-reactive protein

protein:increased expression:plasma,erythrocyte:

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

DNA:SNPs: :1661A>G,49C>A(human)

RGD

NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963

G

cytochrome P450, family 1, subfamily a, polypeptide 1

DNA:SNPs: :4889A>G, 4887C>A (human)

RGD

NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125

G

7-dehydrocholesterol reductase

associated with uveitis; DNA:SNP:CDS:rs12785878 (human)

RGD

NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055

G

endothelin 1

protein:increased expression:plasma (human)

RGD

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

endoplasmic reticulum aminopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:5,666,337...5,705,256
Ensembl chr 2:3,931,904...3,972,447

G

coagulation factor V

no_association

DNA:mutation: :1691G>A (human)

RGD

NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317

G

Fas cell surface death receptor

severity

protein:increased expression:serum (human)

RGD

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

Fc gamma receptor 3A

susceptibility

DNA:SNP:exon:p.F158V (rs396991)(human)

RGD

NCBI chr13:85,782,636...85,792,656
Ensembl chr13:83,249,872...83,259,921

G

heme oxygenase 1

mRNA:decreased expression:mononulcear cell:

RGD

NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079

G

intercellular adhesion molecule 1

susceptibility
no_association

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 chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

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
Ensembl chr 7:53,903,337...53,907,375

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

DNA:missense mutation:cds:1217A>T(D406V)(human)

RGD

NCBI chr X:157,358,279...157,397,563
Ensembl chr X:152,216,596...152,239,499

G

interleukin 10

disease_progression
treatment
susceptibility
onset

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 chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313

G

interleukin 17A

protein:increased expression:plasma (human)

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

susceptibility
no_association

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 chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 18 receptor 1

ClinVar Annotator: match by term: Behcet disease

NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715

G

interleukin 1 beta

protein:increased expression:serum

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

protein:increased expression:serum

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

DNA:polymorphism:promoter (human)

RGD

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21 receptor

RGD

NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:180,168,097...180,195,522

G

interleukin 23 receptor

susceptibility

DNA:SNP: :rs1884444(human)
DNA:SNPs,haplotype::rs17375018, rs11209032(human);

RGD

PMID:22483685 PMID:20375120

RGD:8549550, RGD:8549565

NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 4

DNA:polymorphisms:promoter:-33T>C (human)

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

protein:increased secretion:monocyte:

RGD

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 8

susceptibility

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 chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829

G

integrin subunit alpha 2

susceptibility

RGD

NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:46,523,948...46,621,481

G

integrin subunit alpha L

CTD Direct Evidence: marker/mechanism

NCBI chr 1:191,348,424...191,386,228
Ensembl chr 1:181,918,183...181,955,732

G

integrin subunit alpha M

protein:increased expression:neutrophil (human)

RGD

NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600

G

mannose binding lectin 2

severity
susceptibility

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 innate immunity regulator, pyrin

ClinVar Annotator: match by term: Behcet disease

PMID:25741868 PMID:28492532 PMID:28814775 PMID:31411330

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

microRNA 155

miRNA:increased expression:peripheral blood mononuclear cell

RGD

PMID:30366049 PMID:27156371

RGD:21409751, RGD:25671481

NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718

G

matrix metallopeptidase 2

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:plasma, platelets

RGD

PMID:22116092 PMID:17949555

RGD:8547820, RGD:8657044

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

RGD

NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520

G

nucleotide-binding oligomerization domain containing 2

susceptibility
no_association

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

PMID:28492532 PMID:19748964 PMID:15515785

RGD:8158059, RGD:13204711

NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 3

susceptibility
no_association

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 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360

G

protein Z, vitamin K-dependent plasma glycoprotein

RGD

NCBI chr16:76,450,013...76,463,558
Ensembl chr16:76,450,013...76,463,480

G

proline-serine-threonine phosphatase-interacting protein 1

ClinVar Annotator: match by term: Behcet disease | ClinVar Annotator: match by term: Behcet's syndrome

PMID:25741868 PMID:28492532

NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580

G

protein tyrosine phosphatase, non-receptor type 22

no_association

DNA:SNPs: :rs2488457, rs1310182, rs3789604 (human)

RGD

PMID:17660222 PMID:22396730

RGD:6484733, RGD:7829745

NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:191,366,808...191,414,779

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphisms:cds:multiple (human)

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

G

RT1 class I, locus CE13

disease_progression
no_association

DNA:polymorphisms:cds:HLA-B*51 (human)
DNA:polymorphisms:cds:HLA-B*15 (human)
severe disease; DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)

RGD

PMID:16101830 PMID:12622781 PMID:11426025

RGD:7364873, RGD:7364918, RGD:7364939

NCBI chr20:3,314,491...3,322,815

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphism: :DRB1*0802(human)

RGD

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus DMa

no_association

RGD

NCBI chr20:4,708,932...4,712,335
Ensembl chr20:4,707,028...4,710,432

G

RT1 class II, locus DMb

no_association

RGD

NCBI chr20:4,695,009...4,702,560
Ensembl chr20:4,693,103...4,700,340

G

RT1 class Ib, locus M5

DNA:polymorphisms:cds:HLA-B*51 (human, Turkish)

RGD

NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775

G

serpin family E member 1

protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12074830 PMID:18341631

NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657

G

solute carrier family 11 member 1

DNA:polymorphism:intron (human)

RGD

NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:75,957,316...75,968,101

G

superoxide dismutase 1

protein:increased activity:serum (human)

RGD

NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249

G

signal transducer and activator of transcription 3

no_association

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
Ensembl chr10:85,811,218...85,863,057

G

signal transducer and activator of transcription 4

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 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540

G

transforming growth factor, beta 1

DNA:polymorphism:promoter:exon (human)

RGD

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

susceptibility
no_association

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 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 3

protein,mRNA:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr16:53,554,916...53,572,321
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

susceptibility
no_association

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 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

no_association

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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

protein:increased expression:serum
ClinVar Annotator: match by term: Behcet disease

PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 PMID:14600787

NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591

G

vitamin D receptor

no_association

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
Ensembl chr 7:128,987,981...129,037,677

G

vascular endothelial growth factor A

protein:increased expression:serum

RGD

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

vimentin

RGD

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

G

von Willebrand factor

RGD

NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539

Term paths to the root

Path 1
Term	Annotations
disease	19134
sensory system disease	7375
mouth disease	1047
Behcet's disease	76
Path 2
Term	Annotations
disease	19134
disease of anatomical entity	18447
nervous system disease	14354
Neurologic Manifestations	10440
sensory system disease	7375
eye disease	3725
uveal disease	242
uveitis	150
panuveitis	89
anterior uveitis	86
Behcet's disease	76

paths to the root