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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: OMIM: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, sub-family B (MDR/TAP), member 1 ISO DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human) RGD PMID:22705826 RGD:8657073 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 no_association
susceptibility		 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:15045629 PMID:15961928 RGD:7829810 RGD:8142349 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: Behcet's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28814775 PMID:29681619 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21044750 RGD:8694430 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		JBrowse link
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25045206 NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943 		JBrowse link
G APOA1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713 		JBrowse link
G APOB apolipoprotein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:12074830 NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200 		JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism
protein:decreased activity:erythrocyte:		 CTD
RGD		 PMID:12074830 PMID:17206395 RGD:9068907 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 susceptibility ISO protein:increased expression:plasma (human)
DNA:snp:promoter:g.-2518A>G (human)		 RGD PMID:12712358 PMID:19782713 RGD:8548882 RGD:8549488 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
protein:increased expression:blood, T cell (human)		 RGD PMID:15009175 PMID:15501397 PMID:17067435 RGD:4892106 RGD:8551814 RGD:8551827 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:plasma RGD PMID:22116092 RGD:8547820 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CDK6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: Behcet disease ClinVar NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129 		JBrowse link
G CFB complement factor B ISO RGD PMID:6900632 RGD:7411737 NCBI chr 7:24,034,077...24,040,523
Ensembl chr 7:24,033,740...24,041,179 		JBrowse link
G CPB2 carboxypeptidase B2 ISO RGD PMID:15668188 RGD:1598474 NCBI chr11:21,234,447...21,298,250
Ensembl chr11:21,234,447...21,298,241 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO protein:increased expression:plasma,erythrocyte: RGD PMID:12180795 RGD:9491757 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :1661A>G,49C>A(human) RGD PMID:19563524 RGD:7411682 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:SNPs: :4889A>G, 4887C>A (human) RGD PMID:15088300 RGD:8552789 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO associated with uveitis; DNA:SNP:CDS:rs12785878 (human) RGD PMID:24184224 RGD:401901083 NCBI chr 2:2,377,352...2,391,846
Ensembl chr 2:2,377,416...2,391,447 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:9132327 RGD:8661801 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23291587 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation: :1691G>A (human) RGD PMID:15077257 RGD:7394769 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066 		JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:serum (human) RGD PMID:9836498 RGD:8662438 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa susceptibility ISO DNA:SNP:exon:p.F158V (rs396991)(human) RGD PMID:19026120 RGD:5508432 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G HMOX1 heme oxygenase 1 ISO mRNA:decreased expression:mononulcear cell: RGD PMID:18234118 RGD:7777175
G ICAM1 intercellular adhesion molecule 1 susceptibility
no_association		 ISO DNA:SNP:exon:p.R241G (human)
DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:8712863 PMID:10792421 PMID:11409120 PMID:12074830 PMID:12808331 RGD:8158115 RGD:8158123 RGD:8547575 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G 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 chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
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:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL10 interleukin 10 susceptibility
treatment
disease_progression
onset		 ISO DNA:SNP:promoter:-592A>C (rs1800872) (human)
DNA, protein:hypermethylation, decreased expression:promoter, serum
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15980236 PMID:20622878 PMID:20622879 PMID:21506890 PMID:26654556 More... RGD:14975131 RGD:14975149 RGD:14975256 RGD:1598628 RGD:7364843 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:plasma (human) RGD PMID:21455110 RGD:8698672 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IL18 interleukin 18 no_association
susceptibility		 ISO DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)		 RGD PMID:14727452 PMID:15234532 PMID:16273766 PMID:17055358 PMID:21532063 RGD:4889844 RGD:8655897 RGD:8655910 RGD:8655926 RGD:8655927 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL18R1 interleukin 18 receptor 1 ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 NCBI chr 3:51,803,383...51,844,758
Ensembl chr 3:51,803,175...51,844,684 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G IL2 interleukin 2 ISO DNA:polymorphism:promoter (human) RGD PMID:21640045 RGD:5147902 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL21R interleukin 21 receptor ISO RGD PMID:21724243 RGD:6892926 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152 		JBrowse link
G 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 chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510 		JBrowse link
G IL4 interleukin 4 ISO DNA:polymorphisms:promoter:-33T>C (human) RGD PMID:21640045 RGD:5147902 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 ISO protein:increased secretion:monocyte: RGD PMID:8164212 RGD:7829752 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G 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 chr 6:3,041,617...3,060,685
Ensembl chr 6:3,041,645...3,097,406 		JBrowse link
G ITGA2 integrin subunit alpha 2 susceptibility ISO RGD PMID:12412731 RGD:1582300 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103 		JBrowse link
G ITGAL integrin subunit alpha L ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr 3:17,817,785...17,858,057
Ensembl chr 3:17,817,011...17,858,012 		JBrowse link
G ITGAM integrin subunit alpha M ISO protein:increased expression:neutrophil (human) RGD PMID:21719422 RGD:329901843 NCBI chr 3:17,216,719...17,272,134
Ensembl chr 3:17,204,610...17,273,613 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8712863 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:serum RGD PMID:14600787 RGD:7401213
G MBL2 mannose binding lectin 2 susceptibility
severity		 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:serum (human)		 RGD PMID:15693089 PMID:15730518 RGD:1582154 RGD:1582155 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083 		JBrowse link
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 chr 3:38,934,573...38,948,609 JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:increased expression:peripheral blood mononuclear cell RGD PMID:27156371 PMID:30366049 RGD:21409751 RGD:25671481 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17949555 RGD:8657044 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma, platelets RGD PMID:17949555 PMID:22116092 RGD:8547820 RGD:8657044 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 susceptibility
no_association		 ISO 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		 RGD
ClinVar		 PMID:15515785 PMID:19748964 PMID:28492532 RGD:13204711 RGD:8158059 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association		 ISO DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
DNA:snp:cds:p.E298D (human)
DNA:duplication:intron:g.IVS4?-?+27 (human)		 RGD PMID:11908569 PMID:15705632 PMID:16463158 PMID:21957880 RGD:7771576 RGD:7771577 RGD:7775048 RGD:7775050 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:15377545 RGD:8547573 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
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 7:57,100,212...57,145,278
Ensembl chr 7:57,102,757...57,146,751 		JBrowse link
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 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G SERPINE1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum (human)		 CTD
RGD		 PMID:12074830 PMID:18341631 RGD:8547693 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SLA-DMA SLA-DM alpha chain no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,133,494...25,137,928
Ensembl chr 7:25,133,497...25,137,966 		JBrowse link
G SLA-DMB MHC class II, DM beta no_association ISO RGD PMID:10375868 RGD:1582700 NCBI chr 7:25,119,278...25,125,089
Ensembl chr 7:25,119,139...25,128,236 		JBrowse link
G SLC11A1 solute carrier family 11 member 1 ISO DNA:polymorphism:intron (human) RGD PMID:18998137 RGD:5684936 NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396 		JBrowse link
G SOD1 superoxide dismutase 1 ISO protein:increased activity:serum (human) RGD PMID:12458889 RGD:1580846 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729 		JBrowse link
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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
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)		 RGD
CTD		 PMID:20438790 PMID:23001997 PMID:23291587 RGD:8661713 RGD:8661718 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO DNA:polymorphism:promoter:exon (human) RGD PMID:21640045 RGD:5147902 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G TLR2 toll like receptor 2 susceptibility
no_association		 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell
DNA:SNPs: : rs2289318,rs3804099(human)
mRNA:increased expression:intestine:
DNA:polymorphism: :12408G>A(human)		 RGD PMID:18336589 PMID:19796535 PMID:23908180 PMID:24255044 RGD:8552883 RGD:8552885 RGD:8552888 RGD:8552915 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330 		JBrowse link
G TLR3 toll like receptor 3 ISO protein,mRNA:increased expression:peripheral blood mononuclear cell RGD PMID:23908180 RGD:8552883 NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291 		JBrowse link
G TLR4 toll like receptor 4 no_association
susceptibility		 ISO mRNA:increased expression:mononulcear cell:
DNA:polymorphism: :1896A>G,11196C>T(human)
mRNA:increased expression:intestine:
DNA:SNP:3'UTR: rs7037117(human)		 RGD PMID:18234118 PMID:18336589 PMID:18408113 PMID:19796535 RGD:7777175 RGD:7777176 RGD:8552888 RGD:8552915 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970 		JBrowse link
G TNF tumor necrosis factor no_association ISO DNA:SNPs:promoter:-308G>A, -238G>A, -376G>A (human)
protein:increased expression:serum
associated with Uveitis;protein:increased expression:aqueous humor:
DNA:SNP:promoter:-308G>A (human)		 RGD PMID:12632436 PMID:12770792 PMID:14600787 PMID:15875188 PMID:20601837 More... RGD:12904036 RGD:12904040 RGD:12904048 RGD:7394759 RGD:7401213 RGD:8142356 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Behcet disease ClinVar PMID:25741868 PMID:27264265 PMID:28492532 PMID:28814775 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
G VDR vitamin D receptor no_association ISO DNA:SNP: :rs1544410 (human)
DNA:SNP:exon:rs2228570 (human)		 RGD PMID:21820934 RGD:8158077 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:serum RGD PMID:15257411 RGD:8655578 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G VIM vimentin ISO RGD PMID:3780056 RGD:6480476 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170 		JBrowse link
G VWF von Willebrand factor ISO RGD PMID:15849757 RGD:1580642 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      mouth disease 967
        Behcet's disease 72
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              uveal disease 221
                uveitis 127
                  panuveitis 86
                    anterior uveitis 82
                      Behcet's disease 72
paths to the root