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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:keratitis
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Accession:DOID:4677 term browser browse the term
Definition:A corneal disease that is characterized by inflammation of the cornea. (DO)
Synonyms:exact_synonym: keratitides
 primary_id: MESH:D007634
 xref: EFO:0009449;   ICD10CM:H16;   ICD9CM:370;   NCI:C26805
For additional species annotation, visit the Alliance of Genome Resources.



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keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23661603 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G IL6 interleukin 6 susceptibility ISO DNA:SNPs,haplotype:promoter:-174 G>C,−572 C/G(human) RGD PMID:22503230 RGD:7829772 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G TLR2 toll like receptor 2 treatment ISO associated with Aspergillosis:
associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea:
CTD Direct Evidence: marker/mechanism
associated with Onchocerciasis, Ocular;
RGD
CTD
PMID:17875630 PMID:18398706 PMID:21647173 PMID:23661603 RGD:7794840 RGD:8552816 RGD:8552914 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO associated with Eye Infections,Fungal;DNA:SNP::rs10983755(human)
associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea:
associated with Eye Infections, Fungal; mRNA,protein:increased expression:macrophage:
RGD PMID:18398706 PMID:19074808 PMID:19875664 PMID:24074256 RGD:7794779 RGD:7794785 RGD:7794845 RGD:8552914 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G VIP vasoactive intestinal peptide ISO RGD PMID:21666233 RGD:5685380 NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730
JBrowse link
Acanthamoeba Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:cornea RGD PMID:21155840 RGD:7777095 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
autosomal dominant keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr11:31,473,439...31,754,446 JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: Dominantly inherited keratitis | ClinVar Annotator: match by term: Keratitis, hereditary OMIM
ClinVar
PMID:7627897 PMID:7668281 PMID:9727514 PMID:10234503 PMID:12634864 More... NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
Bacterial Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1R1 interleukin 1 receptor type 1 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 Ensembl chr2A:103,193,131...103,230,005 JBrowse link
G LY96 lymphocyte antigen 96 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 8:70,525,058...70,567,839
Ensembl chr 8:72,169,986...72,207,372
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO associated with Staphylococcal Infections;
associated with Serratia Infections;
RGD PMID:16926427 PMID:23033384 RGD:8552819 RGD:8662876 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
G TLR2 toll like receptor 2 ISO associated with Pneumococcal Infections;
associated with Staphylococcal Infections;
RGD PMID:16926427 PMID:23841825 RGD:8552819 RGD:8552886 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO associated with Serratia Infections;
associated with Pneumococcal Infections;
RGD PMID:23033384 PMID:23841825 RGD:8552886 RGD:8662876 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TLR5 toll like receptor 5 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 1:198,787,046...198,819,537
Ensembl chr 1:203,798,767...203,801,343
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 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919
JBrowse link
corneal neovascularization term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO mRNA, protein:increased expression:cornea RGD PMID:18829859 RGD:8548897 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:12827053 PMID:19421039 RGD:8657360 RGD:9491750 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:cornea RGD PMID:20610836 RGD:6892921 NCBI chr 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:12556387 RGD:734790 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO RGD PMID:17003426 RGD:6893528 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:18322241 RGD:9365153 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
G FAS Fas cell surface death receptor treatment ISO RGD PMID:12506060 RGD:8662416 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9301478 PMID:11437330 RGD:8655668 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:19647313 RGD:10402147 NCBI chr13:9,584,850...9,779,542 JBrowse link
G IL17A interleukin 17A treatment ISO associated with Herpes Simplex RGD PMID:22379030 RGD:9068451 NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human protein in mouse model RGD PMID:10359324 PMID:12202509 RGD:8549790 RGD:8549796 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G ITGAV integrin subunit alpha V ISO RGD PMID:10664059 RGD:1582461 NCBI chr2B:73,880,962...73,972,486
Ensembl chr2B:191,680,655...191,773,028
JBrowse link
G KDR kinase insert domain receptor treatment ISO RGD PMID:18263815 PMID:21691137 RGD:8549714 RGD:8549755 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G MUC4 mucin 4, cell surface associated ISO RGD PMID:17169838 RGD:7349391 NCBI chr 3:193,050,895...193,114,931 JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21719569 PMID:22553751 RGD:6771213 RGD:6771229 NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:17625041 RGD:8552895 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:19596319 RGD:8554890 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G TNFAIP6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr2B:38,669,652...38,692,037
Ensembl chr2B:155,933,842...155,956,382
JBrowse link
G VEGFA vascular endothelial growth factor A ISO associated with Herpes Simplex;protein:increased expression:cornea:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9301478 PMID:21325621 PMID:22467572 RGD:7483619 RGD:8547993 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
corneal ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 ISO associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: RGD PMID:12714388 RGD:7829721 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO associated with Hypersensitivity;mRNA:decreased expression:eye RGD PMID:16251127 RGD:7364739 NCBI chr11:1,191,223...1,234,373 JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:24244623 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G SERPINF1 serpin family F member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19553628 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G TNF tumor necrosis factor ISO associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: RGD PMID:12714388 RGD:7829721 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
Fungal Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC7A C-type lectin domain containing 7A treatment ISO mRNA:increased expression:cornea RGD PMID:26963514 RGD:11526921 NCBI chr12:10,161,780...10,174,943
Ensembl chr12:10,410,384...10,425,452
JBrowse link
G TLR4 toll like receptor 4 ISO associated with Aspergillosis RGD PMID:20617171 RGD:7794847 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TREM1 triggering receptor expressed on myeloid cells 1 treatment ISO mRNA:increased expression:cornea RGD PMID:26963514 RGD:11526921 NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091
JBrowse link
G TSLP thymic stromal lymphopoietin disease_progression ISO RGD PMID:29550278 PMID:30853520 RGD:38549371 RGD:38549574 NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
JBrowse link
herpes simplex virus keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E treatment ISO RGD PMID:18515564 RGD:7771550 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G ATM ATM serine/threonine kinase ameliorates ISO RGD PMID:24370835 RGD:126781690 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO associated with Herpes Simplex, Type 1 RGD PMID:16997857 RGD:8548890 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO RGD PMID:15287366 RGD:7483593 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:16476970 PMID:18798077 RGD:8551819 RGD:8551837 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CCR6 C-C motif chemokine receptor 6 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779
JBrowse link
G CD274 CD274 molecule ISO RGD PMID:16253242 RGD:41410794 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:18798077 RGD:8551819 NCBI chr  X:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr2A:37,130,386...37,184,587
Ensembl chr2A:37,895,814...37,941,686
JBrowse link
G IFNB1 interferon beta 1 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 9:20,884,742...20,886,317 JBrowse link
G IFNG interferon gamma ISO RGD PMID:12162877 RGD:8157603 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:22467659 RGD:7364834 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL1B interleukin 1 beta ISO mRNA:increased expression:cornea RGD PMID:10624423 RGD:7401196 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO human protein in a mouse model RGD PMID:15258192 RGD:8549793 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:21204603 PMID:29370719 RGD:127285376 RGD:127285545 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G IL23A interleukin 23 subunit alpha ISO mRNA;increased expression:trigeminal ganglion (mouse) RGD PMID:12162874 RGD:39457946 NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617
JBrowse link
G KDR kinase insert domain receptor treatment ISO protein:increased expression:cornea: RGD PMID:16951377 RGD:8549742 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G RNASEL ribonuclease L treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045
JBrowse link
G STAT4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:cornea: RGD PMID:17667620 PMID:17686871 RGD:7794851 RGD:8552970 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor ISO mRNA:increased expression:cornea RGD PMID:10624423 PMID:12162877 RGD:7401196 RGD:8157603 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar
PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007
JBrowse link
Keratitis Fugax Hereditaria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: KERATOENDOTHELIITIS FUGAX HEREDITARIA | ClinVar Annotator: match by term: Keratitis fugax hereditaria OMIM
ClinVar
PMID:49161 PMID:3604606 PMID:11687797 PMID:11992256 PMID:12355493 More... NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 PMID:25741868 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
keratoconjunctivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MUC16 mucin 16, cell surface associated ISO mRNA:increased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr19:8,416,393...8,568,418 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr11:1,191,223...1,234,373 JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:conjnctival epithelium: RGD PMID:15875531 RGD:8552813 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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 chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO RGD PMID:16159632 RGD:8549757 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G IL6 interleukin 6 ISO associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G MUC4 mucin 4, cell surface associated ISO RGD PMID:14507865 RGD:7349377 NCBI chr 3:193,050,895...193,114,931 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:14507865 RGD:7349377 NCBI chr11:1,191,223...1,234,373 JBrowse link
G NRTN neurturin ISO RGD PMID:14507865 RGD:7349377 NCBI chr19:4,821,307...4,844,295 JBrowse link
G TNF tumor necrosis factor ISO associated with Sjogren's Syndrome;mRNA:increased expression:conjunctiva: RGD PMID:10487957 RGD:7829756 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
Pseudomonas Aeruginosa Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPB CCAAT enhancer binding protein beta treatment ISO mRNA,protein:increased expression:cornea (mouse) RGD PMID:23626014 RGD:40903020 NCBI chr20:46,533,163...46,535,282 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:9916118 RGD:8547701 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IL10 interleukin 10 treatment ISO RGD PMID:23878501 RGD:7364804 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
JBrowse link
G IL18 interleukin 18 ISO RGD PMID:12023376 RGD:8655931 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:11895986 RGD:7401195 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1RN interleukin 1 receptor antagonist treatment ISO mRNA:increased expression:cornea (mouse) RGD PMID:9423885 PMID:11895986 RGD:7401195 RGD:8549805 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IL6 interleukin 6 ISO RGD PMID:11349084 RGD:7829813 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:16384971 RGD:8547891 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:cornea: RGD PMID:20012880 RGD:8552969 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:cornea: RGD PMID:17065506 PMID:20012880 RGD:7794775 RGD:8552969 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TSLP thymic stromal lymphopoietin severity ISO RGD PMID:30128494 RGD:38596331 NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
JBrowse link
Warburg-Cinotti Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Warburg-cinotti syndrome OMIM
ClinVar
PMID:9536098 PMID:17103436 PMID:17576681 PMID:23637089 PMID:25741868 More... NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15809
    sensory system disease 7027
      eye disease 3584
        corneal disease 225
          keratitis 63
            Acanthamoeba Keratitis 1
            Bacterial Keratitis + 15
            Dermatoosteolysis Kirghizian Type 0
            Fungal Keratitis 4
            Keratitis Fugax Hereditaria 1
            Keratitis-Ichthyosis-Deafness Syndrome + 2
            Keratouveitis 0
            autosomal dominant keratitis + 3
            corneal neovascularization + 20
            corneal ulcer + 5
            deep keratitis + 0
            filamentary keratitis 0
            gonococcal keratitis 0
            herpes simplex virus keratitis + 22
            keratoconjunctivitis + 10
            macular keratitis 0
            photokeratitis 0
            superficial keratitis + 0
Path 2
Term Annotations click to browse term
  disease 15809
    disease of anatomical entity 15486
      nervous system disease 13579
        Neurologic Manifestations 10044
          sensory system disease 7027
            eye disease 3584
              corneal disease 225
                keratitis 63
                  Acanthamoeba Keratitis 1
                  Bacterial Keratitis + 15
                  Dermatoosteolysis Kirghizian Type 0
                  Fungal Keratitis 4
                  Keratitis Fugax Hereditaria 1
                  Keratitis-Ichthyosis-Deafness Syndrome + 2
                  Keratouveitis 0
                  autosomal dominant keratitis + 3
                  corneal neovascularization + 20
                  corneal ulcer + 5
                  deep keratitis + 0
                  filamentary keratitis 0
                  gonococcal keratitis 0
                  herpes simplex virus keratitis + 22
                  keratoconjunctivitis + 10
                  macular keratitis 0
                  photokeratitis 0
                  superficial keratitis + 0
paths to the root