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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:salivary gland disease
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Accession:DOID:10854 term browser browse the term
Definition:A mouth disease located_in the salivary gland. (DO)
Synonyms:exact_synonym: non-neoplastic salivary gland disease;   salivary gland diseases
 primary_id: MESH:D012466
 xref: EFO:0008581;   ICD9CM:527.8
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
salivary gland disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp3 caspase 3 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell RGD PMID:19356238 RGD:2311442 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732 		JBrowse link
aplasia of lacrimal and salivary glands term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands | ClinVar Annotator: match by term: Salivary glands, absence of 		OMIM
CTD
ClinVar		 PMID:15654336 PMID:16630169 PMID:17213838 PMID:25741868 PMID:28492532 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
HELIX syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: HELIX syndrome OMIM
ClinVar		 PMID:25741868 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chr15:102,269,858...102,361,589
Ensembl chr15:102,269,858...102,361,589 		JBrowse link
pleomorphic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
RGD		 PMID:10029085 RGD:1599086 NCBI chr 5:21,699,650...21,754,325
Ensembl chr 5:21,702,987...21,711,240 		JBrowse link
salivary gland adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir155 microRNA 155 disease_progression ISO RGD PMID:28668836 RGD:24922215 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr16:57,905,991...58,051,466
Ensembl chr16:57,906,128...58,051,474 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:22,686,508...22,933,160 		JBrowse link
salivary gland cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon4l gon-4 like ISS MouseDO NCBI chr 2:176,531,274...176,604,446
Ensembl chr 2:176,531,274...176,604,444 		JBrowse link
salivary gland carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:26498950 RGD:126907998 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO RGD PMID:26498950 RGD:126907998 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein sexual_dimorphism ISO DNA:SNP:intron: (rs3748522) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:154,778,320...154,800,021 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 sexual_dimorphism ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:22,686,508...22,933,160 		JBrowse link
Salivary Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:salivary gland RGD PMID:17708571 RGD:2292654 NCBI chr15:3,869,180...3,897,827
Ensembl chr15:3,870,974...3,898,891 		JBrowse link
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:85,812,784...85,830,504 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:53,625,584...53,674,489
Ensembl chr13:53,625,584...53,674,489 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A onset ISO RGD PMID:11103935 RGD:8662404 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B disease_progression ISO protein:increased expression:salivary gland: RGD PMID:21109952 RGD:9587467 NCBI chr11:46,670,560...46,690,739
Ensembl chr11:46,670,630...46,690,733 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,935,625...4,096,581 		JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:105,646,908...105,685,921
Ensembl chr13:105,646,908...105,686,174 		JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:95,386,155...95,432,800
Ensembl chr 9:95,386,169...95,432,798 		JBrowse link
G En1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:34,303,684...34,309,269
Ensembl chr13:34,303,702...34,309,269 		JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:135,302,460...135,329,570
Ensembl chr 7:135,302,716...135,329,570 		JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO associated with Mammary Neoplasms, Experimental RGD PMID:9840935 RGD:2301098 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Gas2 growth arrest-specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:110,587,952...110,721,572
Ensembl chr 1:110,717,312...110,718,541 		JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:82,747,676...82,778,090
Ensembl chr16:82,747,345...82,778,088 		JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:65,535,492...65,548,270
Ensembl chr19:65,535,492...65,548,052 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:169,716,684...169,780,360
Ensembl chr 2:169,716,709...169,779,737 		JBrowse link
G Homer3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:19,166,141...19,176,701
Ensembl chr16:19,165,482...19,176,640 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Salivary gland neoplasm ClinVar PMID:24006476 PMID:25695684 PMID:25741868 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:81,864,811...81,892,179
Ensembl chr 9:81,864,783...81,892,171 		JBrowse link
G Irx4 iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:31,859,101...31,868,089
Ensembl chr 1:31,859,101...31,868,089 		JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:18,873,119...18,876,116
Ensembl chr16:18,873,121...18,875,955 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:85,567,197...85,571,014
Ensembl chr10:85,567,202...85,571,142 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Salivary gland neoplasm ClinVar PMID:24006476 PMID:25695684 PMID:25741868 NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:42,240,185...42,245,882
Ensembl chr20:42,240,185...42,245,882 		JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:213,890,213...213,955,417
Ensembl chr 1:213,890,213...213,955,149 		JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,804,268...10,819,979 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:121,926,356...121,946,698 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:37,517,518...37,588,961
Ensembl chr19:37,517,587...37,591,413 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:17,251,965...17,257,360 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:187,064,995...187,096,348
Ensembl chr 2:187,065,013...187,096,806 		JBrowse link
G Prkd1 protein kinase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240283 NCBI chr 6:73,460,640...73,774,433
Ensembl chr 6:73,460,640...73,836,509 		JBrowse link
G Pygb glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:160,072,141...160,118,930
Ensembl chr 3:160,072,115...160,123,961 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:110,691,230...110,934,901
Ensembl chr 7:110,691,230...110,934,987 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:153,005,418...153,504,497
Ensembl chr 3:153,004,987...153,504,497 		JBrowse link
G Son SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:41,673,510...41,723,158
Ensembl chr 8:41,673,510...41,712,551 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:84,441,954...84,473,093
Ensembl chr10:84,441,954...84,473,366 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Wnt5b Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:154,281,852...154,406,081
Ensembl chr 4:154,281,852...154,405,681 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 severity ISO protein:decreased expression:saliva-secreting gland (human) RGD PMID:33202356 RGD:150530645 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613 		JBrowse link
sialadenitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:17284325 RGD:8661704 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Cd4 Cd4 molecule treatment IMP RGD PMID:1828009 RGD:10059317 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461 		JBrowse link
G Il27 interleukin 27 exacerbates ISO mRNA:increased expression:saliva-secreting gland (mouse) RGD PMID:32307922 RGD:126790516 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258 		JBrowse link
Sialorrhea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8938667 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546 		JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Drooling ClinVar PMID:25741868 NCBI chr18:65,216,840...65,563,186
Ensembl chr18:65,216,849...65,558,401 		JBrowse link
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 chr20:10,635,775...10,650,709
Ensembl chr20:10,635,775...10,650,709 		JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Bdnf brain-derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		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 chr16:18,250,593...18,254,967
Ensembl chr16:18,251,847...18,254,967 		JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Ca1 carbonic anhydrase 1 ISO RGD PMID:12806141 RGD:408425977 NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:88,495,475...88,593,454 		JBrowse link
G Car2 carbonic anhydrase 2 ISO RGD PMID:15831920 PMID:12806141 RGD:408425973, RGD:408425977 NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:88,462,872...88,478,064 		JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180 		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 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISS OMIM:270150 MouseDO NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,593,594...84,604,501 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		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 chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		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 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISS OMIM:270150 MouseDO NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:63,449,148...63,476,917 		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 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,203,565...1,218,024 		JBrowse link
G E2f1 E2F transcription factor 1 ISS OMIM:270150 MouseDO NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563 		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
RGD		 PMID:9890678 PMID:9870874 PMID:11157873 RGD:8662410, RGD:8662451, RGD:8662436 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394
Ensembl chr13:85,855,437...85,864,394 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240 		JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr12:28,037,344...28,112,677
Ensembl chr12:28,037,853...28,112,677 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:24941846 RGD:10450595 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chr10:35,187,412...35,203,909
Ensembl chr10:35,193,890...35,203,906 		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 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Id3 inhibitor of DNA binding 3 ISS OMIM:270150 MouseDO NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:153,630,498...153,657,856 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:15584966 PMID:28421993 RGD:8142390, RGD:14975117 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483 		JBrowse link
G Il17a interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		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 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Il2 interleukin 2 ISS OMIM:270150 MouseDO NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 4:97,910,230...98,003,759
Ensembl chr 4:97,909,972...98,004,110 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISS OMIM:270150 MouseDO NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507 		JBrowse link
G Il4 interleukin 4 ISS OMIM:270150 MouseDO NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:92,608,468...92,628,377
Ensembl chr 8:92,611,843...92,628,377 		JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:33,336,086...33,446,818
Ensembl chr 6:33,336,441...33,446,818 		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 chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533 		JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:270150 MouseDO NCBI chr10:88,665,417...88,715,669
Ensembl chr10:88,665,417...88,715,592 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:15316122 PMID:9923658 RGD:8547814, RGD:8547858 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		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 8:24,440,840...24,644,494 JBrowse link
G Muc19 mucin 19, oligomeric ISO
ISS 		mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150 		MouseDO
RGD		 PMID:18184611 RGD:7364736 NCBI chr 7:124,897,424...125,018,582
Ensembl chr 7:124,897,424...125,018,582 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006 		JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:28,121,816...28,131,080
Ensembl chr12:28,121,366...28,131,079 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISS
ISO 		OMIM:270150 MouseDO
RGD		 PMID:20696914 RGD:126908016 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072 		JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:92,656,890...92,771,098
Ensembl chr 8:92,656,890...92,771,021 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:49,542,465...49,564,088 		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 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209 		JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:28,394,940...28,406,410
Ensembl chr10:28,394,814...28,406,309 		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 4:112,450,466...112,453,130
Ensembl chr 4:112,450,468...112,453,585 		JBrowse link
G Rorc RAR-related orphan receptor C ISS OMIM:270150 MouseDO NCBI chr 2:184,698,779...184,723,942
Ensembl chr 2:184,698,818...184,724,566 		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 chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Satb1 SATB homeobox 1 ISS OMIM:270150 MouseDO NCBI chr 9:4,916,958...5,010,359
Ensembl chr 9:4,917,215...4,989,925 		JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISS OMIM:270150 MouseDO NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652 		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
RGD		 PMID:24097066 PMID:24097067 PMID:20535138 PMID:20360187 PMID:18273036 RGD:8661690, RGD:8661709, RGD:8661708 NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO
ISS 		OMIM:270150 MouseDO
RGD		 PMID:9358754 PMID:7554451 RGD:7394829, RGD:7394845 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Thbs1 thrombospondin 1 ISS OMIM:270150 MouseDO NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402 		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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISS OMIM:270150 MouseDO NCBI chr16:86,164,377...86,195,072
Ensembl chr16:86,164,377...86,194,499 		JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:39,537,759...39,585,038
Ensembl chr10:39,537,437...39,585,158 		JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:270150 MouseDO NCBI chr20:44,565,992...44,609,240
Ensembl chr20:44,517,242...44,609,618 		JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chr 1:44,470,232...44,478,561
Ensembl chr 1:44,470,462...44,478,558 		JBrowse link
Sjögren-Mikulicz Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:10616008 RGD:5491001 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
submandibular gland disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fn1 fibronectin 1 IEP RGD PMID:19097859 RGD:7205460 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
Xerostomia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4 interleukin 4 ISO RGD PMID:16413168 RGD:7829771 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Stomatognathic Diseases 1375
      mouth disease 1044
        salivary gland disease 140
          Kimura disease 0
          Mikulicz disease 0
          Parotid Salivary Glands, Polycystic Disease of 0
          Salivary Calculi + 0
          Salivary Gland Fistula 0
          Salivary Gland Neoplasms + 58
          Sialorrhea 2
          Tunglang Savage Bellman Syndrome 0
          Xerostomia + 73
          aplasia of lacrimal and salivary glands 1
          benign lymphoepithelial lesion of salivary gland 0
          mucocele of salivary gland 0
          necrotizing sialometaplasia 0
          parotid disease + 1
          sialadenitis + 4
          sialolithiasis 0
          submandibular gland disease + 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            mouth disease 1044
              salivary gland disease 140
                Kimura disease 0
                Mikulicz disease 0
                Parotid Salivary Glands, Polycystic Disease of 0
                Salivary Calculi + 0
                Salivary Gland Fistula 0
                Salivary Gland Neoplasms + 58
                Sialorrhea 2
                Tunglang Savage Bellman Syndrome 0
                Xerostomia + 73
                aplasia of lacrimal and salivary glands 1
                benign lymphoepithelial lesion of salivary gland 0
                mucocele of salivary gland 0
                necrotizing sialometaplasia 0
                parotid disease + 1
                sialadenitis + 4
                sialolithiasis 0
                submandibular gland disease + 1
paths to the root