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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:Inflammation of the cornea.
Synonyms:exact_synonym: Keratitides
 primary_id: MESH:D007634;   RDO:0000456
 xref: ICD10CM:H16;   ICD9CM:370;   NCI:C26805
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16172043 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277 		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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Tlr2 toll-like receptor 2 treatment ISO
IMP		 associated with Onchocerciasis, Ocular;
CTD Direct Evidence: marker/mechanism
associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea:
associated with Aspergillosis:		 CTD PMID:23661603, PMID:17875630, PMID:18398706, PMID:21647173 RGD:7794840, RGD:8552914, RGD:8552816 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Eye Infections, Fungal; mRNA,protein:increased expression:macrophage:
associated with Eye Infections, Fungal;mRNA,protein:increased expression:cornea:
associated with Eye Infections,Fungal;
associated with Eye Infections,Fungal;DNA:SNP::rs10983755(human)		 RGD PMID:19074808, PMID:18398706, PMID:19875664, PMID:24074256 RGD:7794779, RGD:8552914, RGD:7794845, RGD:7794785 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Vip vasoactive intestinal peptide ISO RGD PMID:21666233 RGD:5685380 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582 		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 IEP mRNA,protein:increased expression:cornea RGD PMID:21155840 RGD:7777095 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		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: Keratitis, hereditary ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Dominantly inherited keratitis
ClinVar Annotator: match by term: Keratitis, hereditary
ClinVar Annotator: match by OMIM:148190
ClinVar Annotator: match by term: Keratitis, autosomal dominant
DNA:snp:exon:IVS10-2A>T (human)		 OMIM
ClinVar		 PMID:7627897 PMID:7668281 PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532, PMID:7668281 RGD:8551884 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		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 p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
ClinVar Annotator: match by OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)		 ClinVar
OMIM		 PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:11073548 PMID:11074495 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12072059 PMID:12081719 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12384501 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14520102 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15769851 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16532460 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17485979 PMID:17553572 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18294064 PMID:18414213 PMID:18560174 PMID:18570691 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19586875 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20096468 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20412116 PMID:20497192 PMID:20563649 PMID:20650534 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21056478 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21162657 PMID:21198395 PMID:21292415 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21776002 PMID:21811586 PMID:21815880 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22031297 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22429511 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23141775 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24033266 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24346070 PMID:24529908 PMID:24611097 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24785414 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26381000 PMID:26399936 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26553399 PMID:26681637 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:27057829 PMID:27087580 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27398341 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27623246 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28000701 PMID:28271504 PMID:28489599 PMID:28492532 PMID:29106882 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31370293 PMID:31620696 PMID:31992338 PMID:32090102 PMID:115556849 PMID:163800907, PMID:20926451, PMID:23924173, PMID:22031297, PMID:18950394, PMID:20307501 RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277 		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 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670 		JBrowse link
G Ly96 lymphocyte antigen 96 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr 5:1,972,212...1,989,448 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 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841 		JBrowse link
G Tlr2 toll-like receptor 2 ISO associated with Staphylococcal Infections;
associated with Pneumococcal Infections;		 RGD PMID:16926427, PMID:23841825 RGD:8552819, RGD:8552886 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Pneumococcal Infections;
associated with Serratia Infections;		 RGD PMID:23841825, PMID:23033384 RGD:8552886, RGD:8662876 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tlr5 toll-like receptor 5 ISO associated with Serratia Infections; RGD PMID:23033384 RGD:8662876 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764 		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 chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO RGD PMID:18829859 RGD:8548897 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:12827053, PMID:19421039 RGD:8657360, RGD:9491750
G Ccr3 C-C motif chemokine receptor 3 ISO mRNA:increased expression:cornea RGD PMID:20610836 RGD:6892921 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO RGD PMID:12556387 RGD:734790 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614 		JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:17003426 RGD:6893528 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO RGD PMID:18322241 RGD:9365153 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514 		JBrowse link
G Fas Fas cell surface death receptor treatment ISO RGD PMID:12506060 RGD:8662416 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9301478, PMID:11437330 RGD:8655668 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment IMP RGD PMID:19647313 RGD:10402147 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905 		JBrowse link
G Il17a interleukin 17A treatment ISO associated with Herpes Simplex RGD PMID:22379030 RGD:9068451 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786 		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 chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Itgav integrin subunit alpha V IDA RGD PMID:10664059 RGD:1582461 NCBI chr 3:71,113,269...71,205,958
Ensembl chr 3:71,114,100...71,202,411 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:21691137, PMID:18263815 RGD:8549714, RGD:8549755 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183 		JBrowse link
G Muc4 mucin 4, cell surface associated IEP RGD PMID:17169838 RGD:7349391 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21719569, PMID:22553751 RGD:6771213, RGD:6771229 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment ISO RGD PMID:17625041 RGD:8552895 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:19596319 RGD:8554890 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Tnfaip6 TNF alpha induced protein 6 treatment ISO RGD PMID:20837529 RGD:7777186 NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism
associated with Herpes Simplex;protein:increased expression:cornea:		 CTD PMID:9301478, PMID:22467572, PMID:21325621 RGD:7483619, RGD:8547993 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO associated with Hypersensitivity;mRNA:decreased expression:eye RGD PMID:16251127 RGD:7364739 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: therapeutic CTD PMID:24244623 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19553628 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte: RGD PMID:12714388 RGD:7829721 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
Fungal Keratitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr4 toll-like receptor 4 ISO RGD PMID:20617171 RGD:7794847 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tslp thymic stromal lymphopoietin disease_progression ISO RGD PMID:29550278, PMID:30853520 RGD:38549371, RGD:38549574 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361 		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 chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO associated with Herpes Simplex, Type 1 RGD PMID:16997857 RGD:8548890 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO RGD PMID:15287366 RGD:7483593 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:18798077, PMID:16476970 RGD:8551819, RGD:8551837 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 ISO RGD PMID:15287366 RGD:7483593 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474 		JBrowse link
G Cd274 CD274 molecule ISO RGD PMID:16253242 RGD:41410794 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:18798077 RGD:8551819 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997 		JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201 		JBrowse link
G Ifnb1 interferon beta 1 treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:12162877 RGD:8157603 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:22467659 RGD:7364834 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:cornea RGD PMID:10624423 RGD:7401196 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 treatment ISO human protein in a mouse model RGD PMID:15258192 RGD:8549793 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il23a interleukin 23 subunit alpha ISO mRNA;increased expression:trigeminal ganglion (mouse) RGD PMID:12162874 RGD:39457946 NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO protein:increased expression:cornea: RGD PMID:16951377, PMID:16951377 RGD:8549742, RGD:8549742 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183 		JBrowse link
G Rnasel ribonuclease L treatment ISO RGD PMID:15670795 RGD:40902819 NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 susceptibility ISO RGD PMID:17266445 RGD:8661706 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:cornea: RGD PMID:17686871, PMID:17667620 RGD:7794851, RGD:8552970 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:17686871 RGD:7794851 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171 		JBrowse link
G Tnf tumor necrosis factor ISO mRNA:increased expression:cornea RGD PMID:10624423, PMID:12162877 RGD:7401196, RGD:8157603 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		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 ClinVar
OMIM		 PMID:31630788 PMID:31630791 NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803 		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: Keratitis fugax hereditaria ClinVar
OMIM		 PMID:3604606 PMID:25741868 PMID:29366613 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254 		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:9285800 PMID:9819448 PMID:10049954 PMID:10508996 PMID:10596881 PMID:10903123 PMID:10982182 PMID:11074495 PMID:11386851 PMID:11556849 PMID:11668644 PMID:11935342 PMID:15967879 PMID:16380907 PMID:17666888 PMID:18414213 PMID:19125024 PMID:20739944 PMID:21465647 PMID:22567369 PMID:22695344 PMID:22785241 PMID:24033266 PMID:24158611 PMID:24529908 PMID:25741868 PMID:26096904 PMID:26236732 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277 		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 chr 8:18,438,838...18,639,777 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:decreased expression:conjunctival epithelial cell RGD PMID:18782111 RGD:7364735 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:conjnctival epithelium: RGD PMID:15875531 RGD:8552813 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		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
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 chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:9916118 RGD:8547701 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:23878501 RGD:7364804 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Il18 interleukin 18 ISO RGD PMID:12023376 RGD:8655931 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:11895986 RGD:7401195 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 treatment ISO mRNA:increased expression:cornea (mouse) RGD PMID:11895986, PMID:9423885 RGD:7401195, RGD:8549805 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:11349084 RGD:7829813 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:16384971 RGD:8547891 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:cornea: RGD PMID:20012880 RGD:8552969 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
G Tslp thymic stromal lymphopoietin severity ISO RGD PMID:30128494 RGD:38596331 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361 		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 ClinVar
OMIM		 PMID:17103436 PMID:23637089 PMID:25741868 PMID:30449416 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        corneal disease 196
          keratitis 62
            Acanthamoeba Keratitis 1
            Bacterial Keratitis + 15
            Dermatoosteolysis Kirghizian Type 0
            Fungal Keratitis 2
            Keratitis Fugax Hereditaria 1
            Keratitis-Ichthyosis-Deafness Syndrome + 2
            Keratouveitis 0
            autosomal dominant keratitis + 3
            corneal neovascularization + 21
            corneal ulcer + 5
            deep keratitis + 0
            filamentary keratitis 0
            gonococcal keratitis 0
            herpes simplex virus keratitis + 24
            keratoconjunctivitis + 9
            macular keratitis 0
            photokeratitis 0
            superficial keratitis + 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            corneal disease 196
              keratitis 62
                Acanthamoeba Keratitis 1
                Bacterial Keratitis + 15
                Dermatoosteolysis Kirghizian Type 0
                Fungal Keratitis 2
                Keratitis Fugax Hereditaria 1
                Keratitis-Ichthyosis-Deafness Syndrome + 2
                Keratouveitis 0
                autosomal dominant keratitis + 3
                corneal neovascularization + 21
                corneal ulcer + 5
                deep keratitis + 0
                filamentary keratitis 0
                gonococcal keratitis 0
                herpes simplex virus keratitis + 24
                keratoconjunctivitis + 9
                macular keratitis 0
                photokeratitis 0
                superficial keratitis + 0
paths to the root