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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 chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
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 OMIM:103285
OMIM
ClinVar
PMID:8456838, PMID:8737655, PMID:9443880, PMID:11462173, PMID:11528512, PMID:11929852, PMID:16114047, PMID:16724007, PMID:16740912, PMID:17041931, PMID:17431922, PMID:18603493, PMID:18626511, PMID:19530185, PMID:19781362, PMID:20543567, PMID:21204238, PMID:25741868, PMID:27469932, PMID:28492532 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
Alacrima, Achalasia, and Mental Retardation 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 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821
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
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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Il1rn interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:24068863 RGD:8551706 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:23201116 RGD:7421553 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Ccl20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:23702781 RGD:7483582 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:20575639 RGD:5130907 NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:19597109 RGD:8661637
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA, protein:increased expression:conjunctiva, epithelial cell RGD PMID:16682594 RGD:8549761 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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 chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:tear: RGD PMID:17525184 RGD:8157601 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 associated with Sjogren's Syndrome;protein:increased expression:tear RGD PMID:23752063 RGD:7364807 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:tears (human) RGD PMID:20508732 RGD:8551707 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:corneal epithelium RGD PMID:22590618 RGD:8662938 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:tear RGD PMID:22089171 RGD:7349375 NCBI chr 8:18,438,838...18,639,777 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 PMID:19415319, PMID:23272068, PMID:17982500, PMID:21283525, PMID:23538614 RGD:2324954, RGD:7364762, RGD:7364737, RGD:7364730, RGD:7349402 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO RGD PMID:23272068 RGD:7364762 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Pltp phospholipid transfer protein ISS MouseDO NCBI chr 3:161,304,469...161,322,289
Ensembl chr 3:161,304,469...161,322,289
JBrowse link
G Sod1 superoxide dismutase 1 ISO
ISS
MouseDO PMID:24168989 RGD:8655609 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22194977 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tgm1 transglutaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16146918 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:cornea,conjunctiva: RGD PMID:23372055 RGD:8552916 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression: : RGD PMID:23372055, PMID:23372055 RGD:8552916, RGD:8552916 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:23211823 RGD:8694422 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Il6 interleukin 6 ISO associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Muc4 mucin 4, cell surface associated ISO RGD PMID:14507865 RGD:7349377 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:14507865 RGD:7349377 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Nrtn neurturin ISO RGD PMID:14507865 RGD:7349377 NCBI chr 9:10,299,881...10,306,599
Ensembl chr 9:10,305,470...10,306,597
JBrowse link
G Tnf tumor necrosis factor ISO associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 2:203,768,364...203,855,573
Ensembl chr 2:203,768,117...203,855,573
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 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 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:7558045, PMID:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8957519, PMID:9462761, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16501574, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18056630, PMID:18414213, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome
ClinVar Annotator: match by term: LADD syndrome
ClinVar Annotator: match by OMIM:149730
OMIM
ClinVar
PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16501574, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28483234, PMID:28492532, PMID:30311386 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        lacrimal apparatus disease 93
          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 + 86
          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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lacrimal apparatus disease 93
              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 + 86
              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

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