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: ankylosing spondylitis
Accession: DOID:7147
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Definition: An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. (DO)
Synonyms: exact_synonym: Bechterew Disease; Bechterew syndrome; Bechterew's disease; Bechterews disease; Bekhterev syndrome; Bekhterev's disease; Marie Struempell disease; Marie Strumpell spondylitis; Marie-Strumpell disease; ankylosing spondylarthritides; ankylosing spondylarthritis; ankylosing spondyloarthritides; ankylosing spondyloarthritis; rheumatoid spondylitis; spondylarthritis ankylopoietica; spondylitis ankylopoietica; spondyloarthritis ankylopoietica
related_synonym: ankylosing spondylitis, susceptibility to
primary_id: MESH:D013167
xref: EFO:0003898 ; GARD:9518 ; ICD10CM:M45 ; ICD9CM:720.0 ; MIM:PS106300 ; NCI:C84564 ; ORDO:825
For additional species annotation, visit the
Alliance of Genome Resources .
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Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:22876137
RGD:7829800
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:21122270
RGD:5686891
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ano6
anoctamin 6
severity
ISO
DNA:SNP: :rs17095830(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22138694 PMID:23308121
RGD:9684849
NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589
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Antxr2
ANTXR cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062062 PMID:21743469
NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
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Aspn
asporin
susceptibility
ISO
DNA:repeats:exon:
RGD
PMID:20144272
RGD:9684964
NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041
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Card9
caspase recruitment domain family, member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Crp
C-reactive protein
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:22422197 PMID:6605119
RGD:6482308 , RGD:9491788
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:polymorphism: :4887C>A (human)
RGD
PMID:12880680
RGD:1581252
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Erap1
endoplasmic reticulum aminopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587
NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447
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Fcgr3a
Fc gamma receptor 3A
severity
ISO
protein:decreased expression:polymorphonuclear leucocyte
RGD
PMID:8453794
RGD:5508388
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum
RGD
PMID:9851264
RGD:10402573
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il17a
interleukin 17A
treatment
ISO
RGD
PMID:24035250
RGD:9068448
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1r2
interleukin 1 receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20062062
NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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Il23r
interleukin 23 receptor
no_association
ISO
DNA:SNPs,haplotype:multiple: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs11209026(human)
CTD RGD
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036
RGD:8549549 , RGD:8549630
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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Il6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:26339141
RGD:12792209
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Irak1
interleukin-1 receptor-associated kinase 1
susceptibility
ISO
DNA:SNP:enhancer: (rs3027898) (human)
RGD
PMID:20500689
RGD:7495783
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Jak2
Janus kinase 2
susceptibility
ISO
DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human)
RGD
PMID:20627814
RGD:6483025
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kdm5a
lysine demethylase 5A
susceptibility
ISO
DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human)
RGD
PMID:24069348
RGD:9588532
NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNP:cds:677C>T (human)
RGD
PMID:25060515
RGD:42722610
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Pgf
placental growth factor
ISO
RGD
PMID:21873332
RGD:6483576
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Psmb9
proteasome 20S subunit beta 9
ISO
DNA: snp: rs17587
RGD
PMID:22034108
RGD:6483349
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptger4
prostaglandin E receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21743469 PMID:21743469
RGD:6483530
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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RT1-Ba
RT1 class II, locus Ba
severity
ISO
DNA:polymorphism:cds:HLA-DQA1*0401 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
severity
ISO
DNA:polymorphism:cds:HLA-DQB1*0603 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13
RT1 class I, locus CE13
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
RGD
PMID:8733445
RGD:7364914
NCBI chr20:3,314,830...3,318,106
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RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human)
RGD
PMID:19565552
RGD:5147611
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-M5
RT1 class Ib, locus M5
no_association
ISO
DNA:polymorphisms:cds:HLA-B2705 (human)
RGD
PMID:21927904
RGD:10755579
NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775
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Runx3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
DNA:SNPs: :
RGD
PMID:19480848
RGD:6482250
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
DNA:SNPs: :
RGD
PMID:19480848
RGD:6482250
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tbkbp1
TBK1 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21743469
NCBI chr10:82,120,558...82,135,749
Ensembl chr10:82,120,564...82,134,352
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Thbd
thrombomodulin
ISO
protein:increased expression:serum
RGD
PMID:21556780
RGD:5684983
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:blood cell:
RGD
PMID:20952467
RGD:7794744
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr5
toll-like receptor 5
ISO
mRNA:increased expression:blood cell:
RGD
PMID:20952467
RGD:7794744
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:21317434
RGD:5131280
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vip
vasoactive intestinal peptide
ISO
protein:increased expression:plasma
RGD
PMID:20340024
RGD:5685387
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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