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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:Xerostomia
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Accession:DOID:9006511 term browser browse the term
Definition:Decreased salivary flow.
Synonyms:exact_synonym: Asialia;   Asialias;   Hyposalivation;   Hyposalivations;   Mouth Dryness;   Xerostomias
 primary_id: MESH:D014987
 xref: EFO:0009869


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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 chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		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:25741903 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chr11:65,027,706...65,145,002
Ensembl chr11:65,121,607...65,145,072 		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 ISO OMIM:270150 MouseDO NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532 		JBrowse link
G APOE apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330 		JBrowse link
G BDNF brain derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		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 chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697 		JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228 		JBrowse link
G CAST calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623 		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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895 		JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO OMIM:270150 MouseDO NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475 		JBrowse link
G CD40LG CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO associated with Arthritis, Rheumatoid;protein:increased expression:serum: RGD PMID:2353152 PMID:16013223 RGD:9491774 RGD:9491835 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		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:12528117 PMID:16869018 RGD:7421506 RGD:7421519 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103 		JBrowse link
G CYP19A2 cytochrome P450 19A2 ISO OMIM:270150 MouseDO NCBI chr 1:120,652,172...120,695,899
Ensembl chr 1:120,367,667...120,695,899 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO associated with Arthritis, Rheumatoid;DNA:polymorphism: :4889A>G (human) RGD PMID:12590982 RGD:5147747 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775 		JBrowse link
G DGKQ diacylglycerol kinase theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095 		JBrowse link
G E2F1 E2F transcription factor 1 ISO OMIM:270150 MouseDO NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883 		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 chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		JBrowse link
G GTF2I general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423 		JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:24941846 RGD:10450595
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 treatment ISO protein:increased expression:salivary gland
protein:increased expression:plasma		 RGD PMID:11359451 PMID:15037117 PMID:21589878 RGD:8158122 RGD:8547696 RGD:8547705 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G ID3 inhibitor of DNA binding 3 ISO OMIM:270150 MouseDO NCBI chr 6:81,422,541...81,424,169
Ensembl chr 6:81,422,546...81,424,075 		JBrowse link
G IFNG interferon gamma ISO RGD PMID:15584966 PMID:28421993 RGD:14975117 RGD:8142390 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL12A interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078 		JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093 		JBrowse link
G IL17A interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		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
G IL2 interleukin 2 ISO OMIM:270150 MouseDO NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609 		JBrowse link
G IL23R interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha ISO OMIM:270150 MouseDO NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142 		JBrowse link
G IL4 interleukin 4 ISO OMIM:270150 MouseDO NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365 		JBrowse link
G IL6 interleukin 6 severity ISO protein:increased expression:plasma:
DNA:polymorphims:promoter:-174G>C(human)		 RGD PMID:11426023 RGD:7829718 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G IRAK1BP1 interleukin 1 receptor associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 1:87,289,964...87,329,926
Ensembl chr 1:87,290,826...87,329,716 		JBrowse link
G ITSN2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 3:114,363,319...114,508,447
Ensembl chr 3:114,363,529...114,508,444 		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 RGD:8548776 RGD:8548787 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299 		JBrowse link
G MAP3K14 mitogen-activated protein kinase kinase kinase 14 ISO OMIM:270150 MouseDO NCBI chr12:18,142,899...18,182,931
Ensembl chr12:18,142,952...18,182,928 		JBrowse link
G MMP3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:9923658 PMID:15316122 RGD:8547814 RGD:8547858 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MUC19 mucin 19, oligomeric ISO mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150		 RGD
MouseDO		 PMID:18184611 RGD:7364736 NCBI chr 5:71,964,131...72,069,073 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr 2:757,897...790,321 JBrowse link
G NCF1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354 		JBrowse link
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO OMIM:270150 RGD
MouseDO		 PMID:20696914 RGD:126908016 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277 		JBrowse link
G PHIP pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 1:87,116,884...87,247,500
Ensembl chr 1:87,117,092...87,243,675 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PRDM1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 1:72,309,096...72,335,474
Ensembl chr 1:72,311,880...72,335,466 		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 chr 4:106,692,102...106,758,101
Ensembl chr 4:106,686,604...106,758,099 		JBrowse link
G SATB1 SATB homeobox 1 ISO OMIM:270150 MouseDO NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610 		JBrowse link
G SELP selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO OMIM:270150 MouseDO NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		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 chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472 		JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO OMIM:270150 RGD
MouseDO		 PMID:7554451 PMID:9358754 RGD:7394829 RGD:7394845 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G THBS1 thrombospondin 1 ISO OMIM:270150 MouseDO NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115 		JBrowse link
G TNF tumor necrosis factor treatment ISO DNA:polymorphism: :-1031T>C(human) RGD PMID:22703762 PMID:24941846 RGD:10450595 RGD:7394766 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr 1:26,474,158...26,489,771
Ensembl chr 1:26,473,938...26,489,822 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,966 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 ISO OMIM:270150 MouseDO NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198 		JBrowse link
G VIM vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170 		JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Stomatognathic Diseases 1285
      mouth disease 967
        salivary gland disease 129
          Xerostomia 62
            HELIX syndrome 1
            Sjogren's syndrome + 61
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            mouth disease 967
              salivary gland disease 129
                Xerostomia 62
                  HELIX syndrome 1
                  Sjogren's syndrome + 61
paths to the root