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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:lacrimal apparatus disease
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Accession:DOID:1400 term browser browse the term
Definition:Diseases of the lacrimal apparatus.
Synonyms:exact_synonym: lacrimal apparatus diseases
 primary_id: MESH:D007766
 alt_id: RDO:0004067
 xref: ICD10CM:H04;   ICD9CM:375;   NCI:C26809
For additional species annotation, visit the Alliance of Genome Resources.



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lacrimal apparatus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ADULT syndrome
ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome
ClinVar Annotator: match by OMIM:103285
OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar Annotator: match by OMIM:615510
OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis OMIA PMID:16961470 PMID:22212237 PMID:22253609 PMID:22339941 PMID:29284193 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672
JBrowse link
dacryocystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:23116218 RGD:7483616 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:24068863 RGD:8551706 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
dry eye syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing treatment ISO RGD PMID:23211823 RGD:8694422 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:23201116 RGD:7421553 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISS MouseDO NCBI chr  X:65,482,240...65,490,500
Ensembl chr  X:65,481,929...65,527,625
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:23702781 RGD:7483582 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:20575639 RGD:5130907 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19597109 RGD:8661637 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA, protein:increased expression:conjunctiva, epithelial cell RGD PMID:16682594 RGD:8549761 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 ISO protein:increased expression:corneal epithelium (mouse) RGD PMID:22355243 RGD:6218964 NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:tear: RGD PMID:17525184 RGD:8157601 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 ISO associated with Sjogren's Syndrome;protein:increased expression:tear RGD PMID:23752063 RGD:7364807 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta no_association ISO DNA:polymorphism:exon:rs1143634 (human)
DNA:SNPs:promoter:rs16944, rs1143627 (human)
RGD PMID:22128229 PMID:22128229 RGD:7401190, RGD:7401190 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:tears (human) RGD PMID:20508732 RGD:8551707 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human) RGD PMID:18419107 RGD:7829751 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:corneal epithelium RGD PMID:22590618 RGD:8662938 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Muc1 mucin 1, cell surface associated ISO mRNA, protein:increased expression:conjuctival epithelial cell, tear
DNA:splice variant: :rs4072037 (human)
RGD PMID:22089171 PMID:18619437 RGD:7349375, RGD:7349376 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:tear RGD PMID:22089171 RGD:7349375 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming treatment IDA
ISS
ISO
protein:decreased expression:cornea
associated with Graft vs Host Disease
MouseDO
RGD
PMID:19415319 PMID:23272068 PMID:17982500 PMID:21283525 PMID:23538614 RGD:2324954, RGD:7364762, RGD:7364737, RGD:7364730, RGD:7349402 NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO RGD PMID:23272068 RGD:7364762 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Pltp phospholipid transfer protein ISS MouseDO NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS
MouseDO
RGD
PMID:24168989 RGD:8655609 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22194977 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Graft vs Host Disease;mRNA:increased expression:peripheral blood cell:
mRNA,protein:increased expression:cornea,conjunctiva,lacrimal gland:
RGD PMID:22025895 PMID:23372055 RGD:8552821, RGD:8552916 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:cornea,conjunctiva: RGD PMID:23372055 RGD:8552916 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression: : RGD PMID:23372055 PMID:23372055 RGD:8552916, RGD:8552916 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:23211823 RGD:8694422 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
keratoconjunctivitis sicca term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO mRNA:increased expression:conjunctiva, cornea RGD PMID:20007286 RGD:7483613 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Il6 interleukin 6 ISO associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Muc4 mucin 4, cell surface associated ISO RGD PMID:14507865 RGD:7349377 NCBI chr11:68,008,245...68,053,229 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:14507865 RGD:7349377 NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Nrtn neurturin ISO RGD PMID:14507865 RGD:7349377 NCBI chr 9:1,581,860...1,587,835
Ensembl chr 9:1,581,975...1,583,102
JBrowse link
G Tnf tumor necrosis factor ISO associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
lacrimal duct obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Lacrimal duct defect OMIM
ClinVar
PMID:24372406 NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645
JBrowse link
LADD syndrome 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: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G Apoe apolipoprotein E onset ISO DNA:polymorphism:exon: RGD PMID:15328426 RGD:7495765 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bdnf brain-derived neurotrophic factor severity ISO protein:increased expression:serum: RGD PMID:18830907 RGD:8657019 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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 chr16:18,217,404...18,220,979
Ensembl chr16:18,217,407...18,220,979
JBrowse link
G C3 complement C3 ISO RGD PMID:17675493 RGD:7401265 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G Cast calpastatin ISO associated with Lupus Erythematosus, Systemic RGD PMID:15540513 RGD:5683622 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISS OMIM:270150 MouseDO NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:salivary ductal epithelium (human) RGD PMID:12472667 RGD:11520791 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
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 chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISS OMIM:270150 MouseDO NCBI chr 8:54,553,165...54,580,758
Ensembl chr 8:54,553,165...54,580,758
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dgkq diacylglycerol kinase, theta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
JBrowse link
G E2f1 E2F transcription factor 1 ISS OMIM:270150 MouseDO NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Fcgr2a Fc gamma receptor IIa ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:9853108 RGD:6218983 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:24941846 RGD:10450595 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO RGD PMID:19264855 RGD:10054311 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
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 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISS OMIM:270150 MouseDO NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
JBrowse link
G Ifng interferon gamma ISO RGD PMID:15584966 PMID:28421993 RGD:8142390, RGD:14975117 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:12233881 RGD:1580479 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:serum RGD PMID:12051401 RGD:8549582 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A ISO RGD PMID:21182786 RGD:8696035 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:saliva RGD PMID:23906036 RGD:8655918 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISS OMIM:270150 MouseDO NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il23r interleukin 23 receptor ISO protein:increased expression:minor salivary gland: RGD PMID:22262980 RGD:8549566 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISS OMIM:270150 MouseDO NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Il4 interleukin 4 ISS OMIM:270150 MouseDO NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
JBrowse link
G Itsn2 intersectin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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 chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Map3k14 mitogen-activated protein kinase kinase kinase 14 ISS OMIM:270150 MouseDO NCBI chr10:88,165,349...88,215,558
Ensembl chr10:88,165,351...88,215,523
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:19332626 RGD:8693671 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased activity:saliva RGD PMID:15316122 PMID:9923658 RGD:8547814, RGD:8547858 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 8:16,164,531...16,323,126 JBrowse link
G Muc19 mucin 19 ISO
ISS
mRNA:decreased expression:conjunctival epithelial cell
OMIM:270150
MouseDO
RGD
PMID:18184611 RGD:7364736 NCBI chr 7:123,017,896...123,139,053
Ensembl chr 7:123,017,896...123,139,053
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18184611 RGD:7364736 NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28135245 NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:32423153 RGD:127284890 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Nfkbia NFKB inhibitor alpha ISS
ISO
OMIM:270150 MouseDO
RGD
PMID:20696914 RGD:126908016 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:20497955 RGD:8547550 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Prdm1 PR/SET domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
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 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G Pttg1 PTTG1 regulator of sister chromatid separation, securin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837
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 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
JBrowse link
G Rorc RAR-related orphan receptor C ISS OMIM:270150 MouseDO NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Selp selectin P ISO protein:increased expression:plasma RGD PMID:19832990 RGD:6478702 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISS OMIM:270150 MouseDO NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility
no_association
ISO DNA:SNP:intron: (rs7582694) (human)
DNA:SNP:intron: (rs7574865) (human)
RGD PMID:20535138 PMID:20360187 PMID:18273036 RGD:8661690, RGD:8661709, RGD:8661708 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thbs1 thrombospondin 1 ISS OMIM:270150 MouseDO NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097066 PMID:24097067 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tnfsf13b TNF superfamily member 13b ISS OMIM:270150 MouseDO NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
JBrowse link
G Tnip1 TNFAIP3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24097067 NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
JBrowse link
G Traf3ip2 Traf3 interacting protein 2 ISS OMIM:270150 MouseDO NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667
JBrowse link
G Vim vimentin ISO RGD PMID:6352937 RGD:6480477 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:22059987 RGD:5685375 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    sensory system disease 5712
      eye disease 2800
        lacrimal apparatus disease 95
          Alacrima + 1
          Congenital Alacrima + 1
          LADD syndrome 3
          Mikulicz disease 0
          acquired tear duct stenosis 0
          acute inflammation of lacrimal passage + 2
          aplasia of lacrimal and salivary glands 1
          chronic inflammation of lacrimal passage + 0
          dacryoadenitis + 0
          dacryocystitis + 2
          dry eye syndrome + 88
          eversion of lacrimal punctum 0
          excessive tearing + 0
          lacrimal duct obstruction + 2
          lacrimal passage granuloma 0
          lacrimal system cancer + 0
          primary lacrimal atrophy 0
          prolapse of lacrimal gland 0
          secondary lacrimal atrophy 0
          stenosis of lacrimal passage 0
          stenosis of lacrimal punctum 0
          stenosis of lacrimal sac 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          eye disease 2800
            lacrimal apparatus disease 95
              Alacrima + 1
              Congenital Alacrima + 1
              LADD syndrome 3
              Mikulicz disease 0
              acquired tear duct stenosis 0
              acute inflammation of lacrimal passage + 2
              aplasia of lacrimal and salivary glands 1
              chronic inflammation of lacrimal passage + 0
              dacryoadenitis + 0
              dacryocystitis + 2
              dry eye syndrome + 88
              eversion of lacrimal punctum 0
              excessive tearing + 0
              lacrimal duct obstruction + 2
              lacrimal passage granuloma 0
              lacrimal system cancer + 0
              primary lacrimal atrophy 0
              prolapse of lacrimal gland 0
              secondary lacrimal atrophy 0
              stenosis of lacrimal passage 0
              stenosis of lacrimal punctum 0
              stenosis of lacrimal sac 0
paths to the root