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.
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Clu
clusterin
ISO
RGD
PMID:15584350
RGD:9017974
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23872714
NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
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Il6
interleukin 6
ISO
conjunctivochalasis;protein:increased expression:tear:
RGD
PMID:19158563
RGD:7829815
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Tnfaip6
TNF alpha induced protein 6
ISO
RGD
PMID:22297496
RGD:7777184
NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
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Ccl11
C-C motif chemokine ligand 11
IEP
mRNA:increased expression:conjunctiva
RGD
PMID:12682842
RGD:2307196
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:19553621
RGD:8548840
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccl5
C-C motif chemokine ligand 5
IEP
mRNA:increased expression:conjunctiva
RGD
PMID:12682842
RGD:2307196
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Ccl7
C-C motif chemokine ligand 7
ISO
protein:increased expression:conjunctiva
RGD
PMID:11090473
RGD:6483824
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:18658092
RGD:6893389
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:8766745
RGD:8547686
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng
interferon gamma
IDA ISO
RGD
PMID:12234900 , PMID:16123425
RGD:8142386 , RGD:8142391
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il10
interleukin 10
treatment
ISO
protein:increased expression:tear
RGD
PMID:22092652 , PMID:16914468 , PMID:15144463 , PMID:19060266
RGD:7364837 , RGD:11041889 , RGD:7365076 , RGD:7365027
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il13
interleukin 13
ISO
associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human)
RGD
PMID:9191598 , PMID:22023794
RGD:8549533 , RGD:8549595
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:9326725
RGD:7401198
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
human protein in a mouse model
RGD
PMID:10549671
RGD:8549802
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il4r
interleukin 4 receptor
susceptibility
ISO
associated with rhinitis; DNA:SNP: : rs2107356 (human)
RGD
PMID:20002627
RGD:4890389
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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Irf1
interferon regulatory factor 1
IEP
RGD
PMID:14605445
RGD:5128787
NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
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Lck
LCK proto-oncogene, Src family tyrosine kinase
IDA
protein:increased phosphorylation:T cell
RGD
PMID:14507881
RGD:1600225
NCBI chr 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
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Muc1
mucin 1, cell surface associated
severity
ISO
RGD
PMID:17177679
RGD:7349351
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Muc2
mucin 2, oligomeric mucus/gel-forming
severity
ISO
RGD
PMID:17177679
RGD:7349351
NCBI chr 1:214,663,929...214,693,197
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Muc4
mucin 4, cell surface associated
severity
ISO
RGD
PMID:17177679 , PMID:11581187
RGD:7349351 , RGD:7349400
NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
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Pla2g2a
phospholipase A2 group IIA
ISO
protein:increased expression:body fluid or substance
RGD
PMID:21042565
RGD:6482725
NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:16914468
RGD:11041889
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tlr2
toll-like receptor 2
ISO
associated with Staphylococcal Infections;
RGD
PMID:19358332
RGD:8552826
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:conjunctiva:
RGD
PMID:21820713 , PMID:16023216 , PMID:21391988
RGD:7777131 , RGD:7794849 , RGD:7794770
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
mRNA,protein:decreased expression:conjunctiva:
RGD
PMID:16023216
RGD:7794849
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnc
tenascin C
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:18305139
RGD:4889589
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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Cyp2c6v1
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1
treatment
ISO
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
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Il3
interleukin 3
susceptibility
ISO
DNA:SNP: :rs40401(human)
RGD
PMID:23953855
RGD:13506915
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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Muc1
mucin 1, cell surface associated
ISO
RGD
PMID:10359313
RGD:7349379
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:conjunctival epithelial cell (human)
RGD
PMID:9990333
RGD:8662412
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Lamp2
lysosomal-associated membrane protein 2
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
NCBI chr X:124,722,628...124,766,079
Ensembl chr X:124,722,628...124,766,044
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Lamp2em1
lysosomal-associated membrane protein 2; TALEN induced mutant1
IMP
in hemizygote mutant male (LAMP2y/-)
RGD
PMID:29720683
RGD:13703117
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Clu
clusterin
ISO
mRNA:decreased expression:conjunctiva
RGD
PMID:12036968
RGD:8699507
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:11448121
RGD:8549794
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Ptger3
prostaglandin E receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21966456
NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human) DNA:polymorphism:cds:HLA-DQB1*0301 (human)
RGD
PMID:9683867 , PMID:9008223
RGD:7365096 , RGD:7483589
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :DRB1*1101, DRB1*0701(human) DNA:polymorphism: :HLA-DRB1*04(human)
RGD
PMID:9683867 , PMID:8052655
RGD:7365096 , RGD:7365103
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Tnf
tumor necrosis factor
ISO
protein:increased expression:Conjunctiva:
RGD
PMID:7750940
RGD:7394786
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Adam3a
ADAM metallopeptidase domain 3A
ISO
DNA, mRNA:amplification, increase expression
RGD
PMID:25491297
RGD:13831354
NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
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C3
complement C3
ISO
protein:increased expression:tear
RGD
PMID:3875643
RGD:7421524
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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Cfb
complement factor B
ISO
protein:increased expression:tear
RGD
PMID:3875643
RGD:7421524
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22692452
RGD:9491751
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Mmp2
matrix metallopeptidase 2
treatment
IDA
RGD
PMID:23378729
RGD:8657047
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Plg
plasminogen
ISO
ligneous conjunctivitis,OMIM:217090;DNA:point mutation:exon:R216H,W597X
RGD
PMID:9242524
RGD:1601405
NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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Ptafr
platelet-activating factor receptor
IEP
protein:increased expression:conjunctiva, eosinophil (rat)
RGD
PMID:15735601
RGD:9999205
NCBI chr 5:150,746,284...150,775,675
Ensembl chr 5:150,754,021...150,775,672
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Gstp1
glutathione S-transferase pi 1
ISO
protein:increased expression:tear:
RGD
PMID:20861728
RGD:8547943
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Mmp3
matrix metallopeptidase 3
ISO
protein:increased expression:conjunctiva
RGD
PMID:20019361
RGD:8693314
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:conjunctiva
RGD
PMID:20019361
RGD:8693314
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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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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Lama3
laminin subunit alpha 3
ISO
ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome ClinVar Annotator: match by term: Laryngoonychocutaneous syndrome ClinVar Annotator: match by OMIM:245660 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11810295 PMID:12915477 PMID:24033266 PMID:25363238 PMID:25741868 PMID:28492532
NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
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Nlrp1a
NLR family, pyrin domain containing 1A
ISO
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar Annotator: match by term: Corneal intraepithelial dyskeratosis and ectodermal dysplasia
OMIM ClinVar
PMID:17377159 PMID:23349227 PMID:25050600 PMID:25741868 PMID:27662089
NCBI chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
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Crp
C-reactive protein
ISO
RGD
PMID:17876605
RGD:9491593
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Plasminogen deficiency, type I ClinVar Annotator: match by OMIM:217090 ClinVar Annotator: match by synonym: Dysplasminogenemia
OMIM ClinVar
PMID:659588 PMID:1427790 PMID:1986355 PMID:6216475 PMID:6238949 PMID:8392398 PMID:9242524 PMID:9375744 PMID:9834305 PMID:9858247 PMID:10233898 PMID:12850227 PMID:15269832 PMID:16849641 PMID:25741868 PMID:31064749
NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Ring dermoid of cornea ClinVar Annotator: match by OMIM:180550
OMIM ClinVar
PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28492532 PMID:32499604
NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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Il10
interleukin 10
no_association severity
ISO
protein:increased expression:tear DNA:SNP:promoter:−1082G>A (human) DNA:SNP:promoter:−819T>C, −592A>C (human) DNA:SNP, haplotype:promoter:−1082G>A (human) DNA:haplotype: :
RGD
PMID:18628987 , PMID:11023480 , PMID:11023480 , PMID:15789056 , PMID:17947295
RGD:7365037 , RGD:7365085 , RGD:7365085 , RGD:7365072 , RGD:7365053
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il17a
interleukin 17A
ISO
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian)
RGD
PMID:18824733
RGD:7364877
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Tnf
tumor necrosis factor
ISO
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Col1a1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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