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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: 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 chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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 ClinVar Annotator: match by term: Aplasia of lacrimal and salivary glands
ClinVar Annotator: match by OMIM:180920
OMIM
ClinVar
PMID:15654336, PMID:16630169, PMID:17213838, PMID:25741868, PMID:28492532 NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
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 ClinVar
OMIM
PMID:25741868, PMID:28686597, PMID:28771254, PMID:32860008 NCBI chr15:104,026,590...104,115,748
Ensembl chr15:104,026,601...104,115,748
JBrowse link
mucoepidermoid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:promoter: RGD PMID:15999364 RGD:9588574 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Dnmt1 DNA methyltransferase 1 disease_progression ISO RGD PMID:15999364 RGD:9588574 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
Pleomorphic Salivary Gland Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO OMIM NCBI chr 5:16,788,186...16,842,827
Ensembl chr 5:16,791,523...16,799,776
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 chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr16:54,240,892...54,386,131
Ensembl chr16:54,291,251...54,386,129
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 2:188,139,730...188,212,902
Ensembl chr 2:188,139,730...188,215,723
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 chr15:4,254,470...4,281,296
Ensembl chr15:4,254,499...4,281,287
JBrowse link
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A onset ISO RGD PMID:11103935 RGD:8662404 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B disease_progression ISO protein:increased expression:salivary gland: RGD PMID:21109952 RGD:9587467 NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:110,219,276...110,257,345
Ensembl chr13:110,220,283...110,257,367
JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:94,362,249...94,408,884
Ensembl chr 9:94,362,299...94,408,885
JBrowse link
G En1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:36,532,758...36,537,888
Ensembl chr13:36,532,758...36,537,093
JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:143,896,890...143,923,868
Ensembl chr 7:143,897,014...143,923,868
JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO associated with Mammary Neoplasms, Experimental RGD PMID:9840935 RGD:2301098 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Gas2 growth arrest-specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:107,234,389...107,363,624
Ensembl chr 1:107,262,659...107,363,788
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:81,213,364...81,243,824
Ensembl chr16:81,213,364...81,243,757
JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:54,151,048...54,163,701
Ensembl chr19:54,151,048...54,163,608
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link
G Homer3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:20,880,447...20,890,968
Ensembl chr16:20,881,518...20,890,949
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Irx4 iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:32,634,774...32,645,151
Ensembl chr 1:32,634,796...32,643,771
JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:20,589,497...20,592,333
Ensembl chr16:20,589,481...20,592,449
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:88,046,803...88,050,622
Ensembl chr10:88,046,803...88,050,622
JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:42,966,140...42,971,838
Ensembl chr20:42,966,140...42,971,838
JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:222,525,547...222,590,727
Ensembl chr 1:222,525,990...222,590,220
JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:13,039,759...13,055,632
Ensembl chr 7:13,039,781...13,055,632
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:22,450,579...22,486,530
Ensembl chr19:22,450,030...22,486,531
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:15,324,263...15,327,705 JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:198,965,685...198,999,323
Ensembl chr 2:198,965,685...198,999,323
JBrowse link
G Prkd1 protein kinase D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240283 NCBI chr 6:71,035,017...71,349,531
Ensembl chr 6:71,035,332...71,349,249
JBrowse link
G Pygb glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:146,581,063...146,629,504
Ensembl chr 3:146,582,752...146,634,535
JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:118,157,093...118,396,733
Ensembl chr 7:118,156,946...118,396,728
JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:139,333,942...139,835,728
Ensembl chr 3:139,695,028...139,833,967
JBrowse link
G Son SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:31,806,598...31,837,769
Ensembl chr11:31,806,618...31,837,763
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:37,615,022...37,619,728 JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:36,264,741...36,314,811
Ensembl chr 8:36,264,750...36,314,811
JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
JBrowse link
G Wnt5b Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894
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
G Cd4 Cd4 molecule treatment IMP RGD PMID:1828009 RGD:10059317 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Sialorrhea ClinVar PMID:25741868, PMID:30311386 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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 chr20:11,365,630...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
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      mouth disease 754
        salivary gland disease 130
          Mikulicz disease 0
          Parotid Salivary Glands, Polycystic Disease of 0
          Salivary Calculi + 0
          Salivary Gland Fistula 0
          Salivary Gland Neoplasms + 53
          Sialorrhea 2
          Tunglang Savage Bellman Syndrome 0
          Xerostomia + 69
          aplasia of lacrimal and salivary glands 1
          benign lymphoepithelial lesion of salivary gland 0
          mucocele of salivary gland 0
          mumps 0
          necrotizing sialometaplasia 0
          parotid disease + 1
          sialadenitis + 3
          sialolithiasis 0
          submandibular gland disease + 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            salivary gland disease 130
              Mikulicz disease 0
              Parotid Salivary Glands, Polycystic Disease of 0
              Salivary Calculi + 0
              Salivary Gland Fistula 0
              Salivary Gland Neoplasms + 53
              Sialorrhea 2
              Tunglang Savage Bellman Syndrome 0
              Xerostomia + 69
              aplasia of lacrimal and salivary glands 1
              benign lymphoepithelial lesion of salivary gland 0
              mucocele of salivary gland 0
              mumps 0
              necrotizing sialometaplasia 0
              parotid disease + 1
              sialadenitis + 3
              sialolithiasis 0
              submandibular gland disease + 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.