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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:Sjogren's syndrome
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Accession:DOID:12894 term browser browse the term
Definition:An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. (DO)
Synonyms:exact_synonym: Sicca Syndrome;   Sjogren Syndrome;   Sjogrens Syndrome;   xerodermosteosis
 primary_id: MESH:D012859
 alt_id: OMIM:270150
 xref: GARD:10252;   ICD10CM:M35.0;   ICD10CM:M35.00;   ICD9CM:710.2;   NCI:C26883;   NCI:C70647
For additional species annotation, visit the Alliance of Genome Resources.

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Sjogren's syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aire autoimmune regulator ISS OMIM:270150 MouseDO NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631 		JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Bdnf brain-derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO mRNA, protein:increased expression: labial gland, CD19+ B cell, CD4-CD8-CD19-monocyte: RGD PMID:30249485 RGD:14398821 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353 		JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 no_association ISO DNA:frameshift mutation: :p.S185_T195del (rs333) (human) RGD PMID:12412204, PMID:23773920 RGD:8551796, RGD:8551818 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISS OMIM:270150 MouseDO NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562 		JBrowse link
G Crp C-reactive protein ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum: RGD PMID:2353152, PMID:16013223 RGD:9491774, RGD:9491835 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human)
mRNA:increased expression:salivary gland:		 RGD PMID:16869018, PMID:12528117 RGD:7421506, RGD:7421519 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISS OMIM:270150 MouseDO NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr14:2,069,409...2,083,370
Ensembl chr14:2,069,409...2,083,370 		JBrowse link
G E2f1 E2F transcription factor 1 ISS OMIM:270150 MouseDO NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721 		JBrowse link
G Fas Fas cell surface death receptor ISO
ISS		 protein:increased expression:serum (human)
OMIM:270150
protein:decreased expression:lacrimal gland, lymphocyte (mouse)		 MouseDO PMID:9890678, PMID:9870874, PMID:11157873 RGD:8662410, RGD:8662451, RGD:8662436 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238 		JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr12:25,410,804...25,487,970
Ensembl chr12:25,411,207...25,488,156 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:24941846 RGD:10450595 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:salivary gland
protein:increased expression:plasma		 RGD PMID:11359451, PMID:21589878, PMID:15037117 RGD:8158122, RGD:8547705, RGD:8547696 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISS OMIM:270150 MouseDO NCBI chr 5:154,489,603...154,491,172
Ensembl chr 5:154,489,590...154,491,223 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:15584966, PMID:28421993 RGD:8142390, RGD:14975117 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
protein:increased expression:conjunctiva (human)		 RGD PMID:9646842, PMID:11527941 RGD:8549786, RGD:8549807 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il2 interleukin 2 ISS OMIM:270150 MouseDO NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854 		JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISS OMIM:270150 MouseDO NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071 		JBrowse link
G Il4 interleukin 4 ISS OMIM:270150 MouseDO NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531 		JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)		 RGD PMID:11426023, PMID:11426023 RGD:7829718, RGD:7829718 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086 		JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337 		JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility		 ISO DNA:SNPs: :multiple (human)
DNA:SNP, haplotype:intron: (rs909253) (human)
protein:increased expression:saliva, serum		 RGD PMID:20952683, PMID:22294627, PMID:22294627, PMID:20952683 RGD:8548776, RGD:8548787, RGD:8548787, RGD:8548776 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:270150 MouseDO NCBI chr10:91,303,428...91,353,601
Ensembl chr10:91,303,428...91,353,601 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:15316122, PMID:9923658 RGD:8547814, RGD:8547858 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO mRNA, protein:increased expression:conjunctival epithelial cell, tear RGD PMID:19122828 RGD:7364772 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc19 mucin 19, oligomeric ISO
ISS		 mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150		 MouseDO PMID:18184611 RGD:7364736 NCBI chr 7:133,048,727...133,166,551 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISS OMIM:270150 MouseDO NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr20:49,464,921...49,556,623
Ensembl chr20:49,464,919...49,556,518 		JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:16163373, PMID:15933742 RGD:11534998, RGD:11534999 NCBI chr 2:206,342,066...206,390,348
Ensembl chr 2:206,342,066...206,390,348 		JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:29,014,332...29,026,088
Ensembl chr10:29,020,049...29,026,002 		JBrowse link
G Reg1a regenerating family member 1 alpha ISO protein:increased expression:minor salivary gland, salivary ductal epithelium (human) RGD PMID:19016805 RGD:9850137 NCBI chr 4:109,497,962...109,500,626
Ensembl chr 4:109,497,962...109,501,082 		JBrowse link
G Rorc RAR-related orphan receptor C ISS OMIM:270150 MouseDO NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphism:cds:HLA-DQA1*0101 (human)
DNA:polymorphisms::HLA-DQA1*0501,LA-DQA1*0301/2;		 RGD PMID:11555411, PMID:21315052 RGD:5147809, RGD:7421543 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:HLA-DQB1*0201 (human)
associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)		 RGD PMID:21315052, PMID:17489060, PMID:8468491 RGD:7421543, RGD:36174022, RGD:7483566 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0301 (human) RGD PMID:11555411 RGD:5147809 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISS OMIM:270150 MouseDO NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association		 ISO DNA:SNP:intron: (rs7582694) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:intron: (rs7574865) (human)		 CTD PMID:24097066 PMID:24097067, PMID:20535138, PMID:20360187, PMID:18273036 RGD:8661690, RGD:8661709, RGD:8661708 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO
ISS		 OMIM:270150 MouseDO PMID:9358754, PMID:7554451 RGD:7394829, RGD:7394845 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Thbs1 thrombospondin 1 ISS OMIM:270150 MouseDO NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466 		JBrowse link
G Tnf tumor necrosis factor treatment ISO
IEP		 DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762, PMID:24941846 RGD:7394766, RGD:10450595 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr 1:14,401,103...14,416,369
Ensembl chr 1:14,402,913...14,412,807 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISS OMIM:270150 MouseDO NCBI chr16:85,275,690...85,306,419
Ensembl chr16:85,275,678...85,306,366 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:40,255,776...40,303,092
Ensembl chr10:40,255,776...40,296,470 		JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:270150 MouseDO NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872 		JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Sjogren's syndrome 68
        Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 0
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Immune & Inflammatory Diseases 3590
        immune system disease 2960
          primary immunodeficiency disease 2375
            autoimmune disease 1689
              autoimmune disease of musculoskeletal system 938
                rheumatic disease 731
                  rheumatoid arthritis 494
                    Sjogren's syndrome 68
                      Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 0
paths to the root