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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: EFO:0000699;   GARD:10252;   ICD10CM:M35.0;   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 ISO OMIM:270150 MouseDO NCBI chrNW_004624745:29,850,410...29,857,351
Ensembl chrNW_004624745:29,850,560...29,857,029 		JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chrNW_004624907:1,752,322...1,755,308 JBrowse link
G Bdnf brain derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490 		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 chrNW_004624908:588,925...591,033 JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946 		JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chrNW_004624743:15,265,930...15,405,904
Ensembl chrNW_004624743:15,346,837...15,403,150 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO OMIM:270150 MouseDO NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338 		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 chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO mRNA:increased expression:salivary gland:
DNA:SNPs,haplotype: :+49A/G (rs231775),(rs3087243)(human) 		RGD PMID:12528117 PMID:16869018 RGD:7421506 RGD:7421519 NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324 		JBrowse link
G Dgkq diacylglycerol kinase theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624755:26,179,099...26,197,764
Ensembl chrNW_004624755:26,179,162...26,189,901 		JBrowse link
G E2f1 E2F transcription factor 1 ISO OMIM:270150 MouseDO NCBI chrNW_004624842:5,602,432...5,612,951
Ensembl chrNW_004624842:5,602,432...5,612,951 		JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:lacrimal gland, lymphocyte (mouse)
OMIM:270150
protein:increased expression:serum (human)		 RGD
MouseDO		 PMID:9870874 PMID:9890678 PMID:11157873 RGD:8662410 RGD:8662436 RGD:8662451 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848 		JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624826:23,930...34,735 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chrNW_004624759:17,263,570...17,290,046
Ensembl chrNW_004624759:17,263,969...17,287,723 		JBrowse link
G Gtf2i general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chrNW_004624740:13,446,811...13,547,050
Ensembl chrNW_004624740:13,445,872...13,547,056 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO RGD PMID:24941846 RGD:10450595 NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chrNW_004624733:42,538,286...42,547,911
Ensembl chrNW_004624733:42,538,159...42,548,249 		JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:plasma
protein:increased expression:salivary gland		 RGD PMID:11359451 PMID:15037117 PMID:21589878 RGD:8158122 RGD:8547696 RGD:8547705 NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071 		JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO OMIM:270150 MouseDO NCBI chrNW_004624764:8,175,841...8,177,444
Ensembl chrNW_004624764:8,175,372...8,177,451 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:15584966 PMID:28421993 RGD:14975117 RGD:8142390 NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624730:37,787,772...37,794,871
Ensembl chrNW_004624730:37,787,909...37,794,940 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:conjunctiva (human)
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)		 RGD PMID:9646842 PMID:11527941 RGD:8549786 RGD:8549807 NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890 		JBrowse link
G Il2 interleukin 2 ISO OMIM:270150 MouseDO NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453 		JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chrNW_004624742:27,899,934...27,954,145
Ensembl chrNW_004624742:27,901,071...27,941,109 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO OMIM:270150 MouseDO NCBI chrNW_004624775:927,337...991,062
Ensembl chrNW_004624775:924,648...942,354 		JBrowse link
G Il4 interleukin 4 ISO OMIM:270150 MouseDO NCBI chrNW_004624733:39,412,800...39,420,079 JBrowse link
G Il6 interleukin 6 severity ISO protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)		 RGD PMID:11426023 RGD:7829718 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Irak1bp1 interleukin 1 receptor associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624819:5,570,897...5,584,964
Ensembl chrNW_004624819:5,570,647...5,584,705 		JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624738:6,480,203...6,637,713
Ensembl chrNW_004624738:6,480,257...6,637,722 		JBrowse link
G LOC101702005 aromatase ISO OMIM:270150 MouseDO NCBI chrNW_004624731:9,053,644...9,100,212
Ensembl chrNW_004624731:9,053,803...9,100,212 		JBrowse link
G LOC101703821 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO 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)
DNA:polymorphisms:cds:HLA-DQB1*0201 (human)		 RGD PMID:8468491 PMID:17489060 PMID:21315052 RGD:36174022 RGD:7421543 RGD:7483566 NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713 		JBrowse link
G LOC101707509 cytochrome P450 1A1 ISO associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chrNW_004627988:7...1,323 JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility		 ISO protein:increased expression:saliva, serum
DNA:SNPs: :multiple (human)
DNA:SNP, haplotype:intron: (rs909253) (human)		 RGD PMID:20952683 PMID:22294627 RGD:8548776 RGD:8548787 NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM:270150 MouseDO NCBI chrNW_004624795:167,959...207,421
Ensembl chrNW_004624795:167,990...203,784 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:9923658 PMID:15316122 RGD:8547814 RGD:8547858 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO mRNA, protein:increased expression:conjunctival epithelial cell, tear RGD PMID:19122828 RGD:7364772 NCBI chrNW_004624828:1,510,104...1,579,727 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chrNW_004624766:21,439,023...21,461,108 JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chrNW_004624740:13,428,375...13,439,915
Ensembl chrNW_004624740:13,429,476...13,439,807 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chrNW_004624758:20,063,109...20,068,459
Ensembl chrNW_004624758:20,062,685...20,068,609 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO OMIM:270150 RGD
MouseDO		 PMID:20696914 RGD:126908016 NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624819:5,603,334...5,675,664
Ensembl chrNW_004624819:5,608,019...5,720,121 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624780:16,205,056...16,227,382
Ensembl chrNW_004624780:16,204,838...16,227,390 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 no_association ISO DNA:snp:cds:c.1858C>T (human) RGD PMID:15933742 PMID:16163373 RGD:11534998 RGD:11534999 NCBI chrNW_004624772:9,472,869...9,552,751
Ensembl chrNW_004624772:9,472,913...9,550,990 		JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624733:29,134,720...29,147,261 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 chrNW_004624749:23,993,755...23,995,923 JBrowse link
G Rorc RAR related orphan receptor C ISO OMIM:270150 MouseDO NCBI chrNW_004624772:19,478,403...19,501,184
Ensembl chrNW_004624772:19,477,093...19,501,169 		JBrowse link
G Satb1 SATB homeobox 1 ISO OMIM:270150 MouseDO NCBI chrNW_004624821:3,723,609...3,820,921
Ensembl chrNW_004624821:3,726,355...3,800,497 		JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chrNW_004624826:7,510,039...7,544,332
Ensembl chrNW_004624826:7,511,646...7,537,924 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO OMIM:270150 MouseDO NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547 		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)		 RGD
CTD		 PMID:18273036 PMID:20360187 PMID:20535138 PMID:24097066 PMID:24097067 RGD:8661690 RGD:8661708 RGD:8661709 NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391 		JBrowse link
G Tgfb1 transforming growth factor beta 1 severity ISO OMIM:270150 RGD
MouseDO		 PMID:7554451 PMID:9358754 RGD:7394829 RGD:7394845 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Thbs1 thrombospondin 1 ISO OMIM:270150 MouseDO NCBI chrNW_004624804:6,849,660...6,866,164
Ensembl chrNW_004624804:6,849,670...6,867,684 		JBrowse link
G Tnf tumor necrosis factor treatment ISO DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762 PMID:24941846 RGD:10450595 RGD:7394766 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO OMIM:270150 MouseDO NCBI chrNW_004624793:3,629,425...3,664,258 JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chrNW_004624733:40,964,020...41,006,381 JBrowse link
G Traf3ip2 TRAF3 interacting protein 2 ISO OMIM:270150 MouseDO NCBI chrNW_004624933:507,879...558,357
Ensembl chrNW_004624933:506,254...554,015 		JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chrNW_004624796:10,624,672...10,632,300
Ensembl chrNW_004624796:10,623,929...10,632,600 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chrNW_004624785:5,466,429...5,487,763
Ensembl chrNW_004624785:5,468,563...5,488,143 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14092
    syndrome 9306
      dry eye syndrome 84
        Sjogren's syndrome 65
          Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 0
Path 2
Term Annotations click to browse term
  disease 14092
    disease of anatomical entity 13771
      Skin and Connective Tissue Diseases 6371
        connective tissue disease 4918
          bone disease 3623
            bone inflammation disease 1214
              arthropathy 1194
                arthritis 790
                  rheumatoid arthritis 408
                    Sjogren's syndrome 65
                      Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 0
paths to the root