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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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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Il13
interleukin 13
ISO
RGD
PMID:20543112
RGD:4145528
NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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Il4r
interleukin 4 receptor
susceptibility
ISO
associated with carcinoma, non-small-cell lung;DNA:SNP: :rs1801275(human)
RGD
PMID:20811626
RGD:5131286
NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with carcinoma, non-small-cell lung;
RGD
PMID:20811626
RGD:5131286
NCBI chrNW_004936481:3,821,564...3,828,086
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Slc7a5
solute carrier family 7 member 5
ISO
protein:increased expression:epithelium
RGD
PMID:28370814
RGD:151361286
NCBI chrNW_004936641:1,513,110...1,538,955
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781
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Tnf
tumor necrosis factor
susceptibility
ISO
associated with carcinoma, non-small-cell lung: DNA:SNPs: :rs1799724(human)
RGD
PMID:20811626
RGD:5131286
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Trpv1
transient receptor potential cation channel subfamily V member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16091555
NCBI chrNW_004936677:277,304...326,907
Ensembl chrNW_004936677:276,994...327,025
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Ang
angiogenin
ISO
RGD
PMID:22331014
RGD:6771318
NCBI chrNW_004936880:39,372...40,070
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Ankrd27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chrNW_004936570:3,044,565...3,097,692
Ensembl chrNW_004936570:3,044,565...3,098,097
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Capn14
calpain 14
ISO
DNA:snps:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25017104 PMID:25407941
RGD:11100048 RGD:11100049
NCBI chrNW_004936493:1,925,510...1,949,116
Ensembl chrNW_004936493:1,925,510...1,949,585
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Ccl26
C-C motif chemokine ligand 26
treatment
ISO
protein:increased expression:esophagus (human)
RGD
PMID:18844613 PMID:24704289
RGD:11081156 RGD:11081157
NCBI chrNW_004936543:2,414,948...2,416,922
Ensembl chrNW_004936543:2,414,850...2,416,953
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:1316818
RGD:6893390
NCBI chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739
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Cd40lg
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403
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Il5
interleukin 5
ISO
RGD
PMID:23161496
RGD:11354947
NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chrNW_004936541:4,873,459...4,919,787
Ensembl chrNW_004936541:4,873,182...4,937,500
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Tgfb1
transforming growth factor beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chrNW_004936531:5,495,872...5,500,462
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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Ccl5
C-C motif chemokine ligand 5
ISO
associated with Asthma;mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
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Cldn3
claudin 3
ISO
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chrNW_004936543:2,952,054...2,953,313
Ensembl chrNW_004936543:2,951,086...2,953,956
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Cldn4
claudin 4
ISO
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chrNW_004936543:2,984,797...2,986,563
Ensembl chrNW_004936543:2,984,996...2,985,625
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Egfr
epidermal growth factor receptor
ISO
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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F11r
F11 receptor
treatment
ISO
RGD
PMID:19478094
RGD:7488941
NCBI chrNW_004936903:317,975...338,892
Ensembl chrNW_004936903:315,716...338,932
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Il13
interleukin 13
ISO
associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid
RGD
PMID:18222984
RGD:2307110
NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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Il5
interleukin 5
ISO
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430
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LOC101964975
interleukin-8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18193101
NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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Psmb9
proteasome 20S subunit beta 9
ISO
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chrNW_004936476:25,894,313...25,899,132
Ensembl chrNW_004936476:25,894,027...25,899,319
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chrNW_004936487:16,959,263...16,968,909
Ensembl chrNW_004936487:16,959,231...16,968,922
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Tjp1
tight junction protein 1
ISO
RGD
PMID:19653339
RGD:2325133
NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15942680
RGD:1580209
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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