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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:ankylosing spondylitis
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Accession:DOID:7147 term browser browse the term
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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ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ANO6 anoctamin 6 severity IAGP
EXP		 DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr12:45,216,095...45,440,404
Ensembl chr12:45,215,987...45,482,280 		JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G ASPN asporin susceptibility IAGP DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506 		JBrowse link
G CARD9 caspase recruitment domain family member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CRP C-reactive protein disease_progression IEP protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703 		JBrowse link
G FCGR3A Fc gamma receptor IIIa severity IEP protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968 		JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility
no_association		 IAGP
EXP		 DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
DNA:polymorphism:cds:HLA-B2705 (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8053961 PMID:21743469 PMID:22138694 PMID:8733445 PMID:21927904 RGD:7364914, RGD:10755579 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 severity IAGP DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874 		JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL17A interleukin 17A treatment IMP RGD PMID:24035250 RGD:9068448 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL1R2 interleukin 1 receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544 		JBrowse link
G IL23R interleukin 23 receptor no_association IAGP
EXP		 DNA:SNPs,haplotype:multiple:
DNA:SNP: :rs11209026(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G JAK2 Janus kinase 2 susceptibility IAGP DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KDM5A lysine demethylase 5A susceptibility IAGP DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PGF placental growth factor IEP RGD PMID:21873332 RGD:6483576 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851 		JBrowse link
G PTGER4 prostaglandin E receptor 4 IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G RUNX3 RUNX family transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739 		JBrowse link
G TBKBP1 TBK1 binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr17:47,694,063...47,712,063
Ensembl chr17:47,694,161...47,712,052 		JBrowse link
G THBD thrombomodulin IEP protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TLR4 toll like receptor 4 IEP mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR5 toll like receptor 5 IEP mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IDA RGD PMID:21317434 RGD:5131280 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G VIP vasoactive intestinal peptide IEP protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97557
    disease of anatomical entity 91096
      musculoskeletal system disease 20986
        autoimmune disease of musculoskeletal system 5754
          ankylosing spondylitis 436
            ankylosing spondylitis 1 0
            ankylosing spondylitis 2 0
            ankylosing spondylitis 3 0
            juvenile ankylosing spondylitis 0
Path 2
Term Annotations click to browse term
  disease 97557
    disease of anatomical entity 91096
      Skin and Connective Tissue Diseases 22941
        connective tissue disease 15990
          bone disease 12628
            bone inflammation disease 6281
              arthropathy 6255
                spondyloarthropathy 548
                  spondylitis 449
                    ankylosing spondylitis 436
                      ankylosing spondylitis 1 0
                      ankylosing spondylitis 2 0
                      ankylosing spondylitis 3 0
                      juvenile ankylosing spondylitis 0
paths to the root