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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Il13
interleukin 13
ISO
RGD
PMID:20543112
RGD:4145528
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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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 chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with carcinoma, non-small-cell lung;
RGD
PMID:20811626
RGD:5131286
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Slc7a5
solute carrier family 7 member 5
ISO
protein:increased expression:epithelium
RGD
PMID:28370814
RGD:151361286
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11121210
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16091555
NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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Ang
angiogenin
ISO
RGD
PMID:22331014
RGD:6771318
NCBI chr15:24,312,711...24,323,361
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Ankrd27
ankyrin repeat domain 27
ISO
DNA:SNPs:intron: (rs3815700, rs10410895) (human)
RGD
PMID:25407941
RGD:11100048
NCBI chr 1:88,251,216...88,303,615
Ensembl chr 1:88,251,226...88,303,615
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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 chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:1316818
RGD:6893390
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cd40lg
CD40 ligand
ISO
protein:decreased expression:plasma
RGD
PMID:21211656
RGD:5490306
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Il5
interleukin 5
ISO
RGD
PMID:23161496
RGD:11354947
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:increased expression:esophagus (human)
RGD
PMID:22331014
RGD:6771318
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Tgfb1
transforming growth factor, beta 1
ISO
RGD
PMID:24486052
RGD:11073602
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20208534
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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Bmp4
bone morphogenetic protein 4
IEP
protein:increased expression:esophagus:
RGD
PMID:17570215
RGD:8699511
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ccl5
C-C motif chemokine ligand 5
IEP
associated with Asthma;mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Cldn3
claudin 3
IEP
protein:altered expression:epithelial cell, esophagus:
RGD
PMID:21373849
RGD:11344880
NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
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Cldn4
claudin 4
IEP
protein:altered localization:esophagus epithelium, cytoplasm
RGD
PMID:16143882
RGD:2317602
NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
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Egfr
epidermal growth factor receptor
IEP
mRNA, protein:increased expression:esophagus, basal cell
RGD
PMID:11966524
RGD:10395244
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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F11r
F11 receptor
treatment
IEP
RGD
PMID:19478094
RGD:7488941
NCBI chr13:83,873,797...83,897,388
Ensembl chr13:83,873,797...83,897,402
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Il13
interleukin 13
IEP
associated with asthma; mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid
RGD
PMID:18222984
RGD:2307110
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il5
interleukin 5
IEP
associated with asthma; mRNA:increased expression:esophagus
RGD
PMID:18222984
RGD:2307110
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Mir223
microRNA 223
IEP
RNA:increased expression: esophagus
RGD
PMID:28757556
RGD:25824949
NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996
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Mir29a
microRNA 29a
IEP
RGD
PMID:28757556
RGD:25824949
NCBI chr 4:59,650,608...59,650,695
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Psmb9
proteasome 20S subunit beta 9
IEP
protein:decreased expression:esophageal epithelium (rat)
RGD
PMID:23942904
RGD:9854630
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Ptges
prostaglandin E synthase
IEP
protein:increased expression:esophagus
RGD
PMID:16210398
RGD:2300085
NCBI chr 3:14,177,892...14,189,236
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Tjp1
tight junction protein 1
IEP
RGD
PMID:19653339
RGD:2325133
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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Tnf
tumor necrosis factor
IDA
RGD
PMID:15942680
RGD:1580209
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)
RGD
PMID:25910066
RGD:11055189
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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