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_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
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Il13
interleukin 13
ISO
RGD
PMID:20543112
RGD:4145528
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
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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_004624782:11,981,781...12,008,362
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with carcinoma, non-small-cell lung;
RGD
PMID:20811626
RGD:5131286
NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728
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Slc7a5
solute carrier family 7 member 5
ISO
protein:increased expression:epithelium
RGD
PMID:28370814
RGD:151361286
NCBI chrNW_004624746:1,325,368...1,349,616
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
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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_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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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_004624786:6,231,494...6,249,001
Ensembl chrNW_004624786:6,231,494...6,249,001
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Ankrd27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chrNW_004624794:7,494,275...7,544,671
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Capn14
calpain 14
ISO
CTD Direct Evidence: marker/mechanism DNA:snps:multiple (human) mRNA:increased expression:esophagus
CTD RGD
PMID:25017104 PMID:25407941
RGD:11100048 RGD:11100049
NCBI chrNW_004624738:12,975,145...13,033,344
Ensembl chrNW_004624738:12,978,086...13,006,327
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:1316818
RGD:6893390
NCBI chrNW_004624730:74,768,668...74,769,749
Ensembl chrNW_004624730:74,768,668...74,769,798
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Cd40lg
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
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Il5
interleukin 5
ISO
RGD
PMID:23161496
RGD:11354947
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
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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_004624870:33,293...122,536
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Tgfb1
transforming growth factor beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
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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_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
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Cldn3
claudin 3
ISO
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chrNW_004624740:14,065,172...14,066,432
Ensembl chrNW_004624740:14,065,478...14,066,137
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Cldn4
claudin 4
ISO
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chrNW_004624740:14,033,848...14,035,854
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Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18193101
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
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Egfr
epidermal growth factor receptor
ISO
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
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F11r
F11 receptor
treatment
ISO
RGD
PMID:19478094
RGD:7488941
NCBI chrNW_004624794:346,281...367,132
Ensembl chrNW_004624794:346,387...367,428
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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_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
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Il5
interleukin 5
ISO
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
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Psmb9
proteasome 20S subunit beta 9
ISO
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chrNW_004624754:23,811,008...23,815,432
Ensembl chrNW_004624754:23,807,272...23,815,417
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Ptges
prostaglandin E synthase
ISO
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chrNW_004624760:5,643,549...5,653,747
Ensembl chrNW_004624760:5,643,501...5,654,475
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Tjp1
tight junction protein 1
ISO
RGD
PMID:19653339
RGD:2325133
NCBI chrNW_004624768:2,826,848...3,034,195
Ensembl chrNW_004624768:2,828,324...3,034,302
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Tnf
tumor necrosis factor
ISO
RGD
PMID:15942680
RGD:1580209
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514
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