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.
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
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
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
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
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
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
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
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
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
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
G
Ly96
lymphocyte antigen 96
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chr 5:1,972,212...1,989,448
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:14507865
RGD:7349377
NCBI chr 1:214,725,482...214,756,653
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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